Vol. 3 No. 2, Winter 1997
A publication of the FacioScapuloHumeral Society
Provided by the FSH Society, Inc.
Inside ...
- Richard A. Lefebvre
As Chairman of the Fundraising Committee, I would like to thank you for your past financial support of the Society and hope that you will continue your generous support in the future. I would also like to take this opportunity to share with you some very important information regarding FSHD genetic research and what we believe is a call to action.
You should be aware that FSHD research is not receiving adequate funding from government, corporate and other agencies such as the National Institutes of Health (NIH). In fact, we have been informed that the NIH-sponsored FSHD research grant will not be renewed by Genome Therapeutics Corporation in Boston. This is of particular importance as the FSHD research project at GTC represents ten years of work and a significant bank of FSHD cell lines that must be preserved. The Society is presently working with GTC to find a new home for the project and thus ensure that this significant research continues in the future. The lack of funding for FSHD genetic research and the potential for decreased funding in the future is particularly alarming (I am physically challenged by FSHD as well) as it represents our only hope for a cure.
At our next board meeting, I will be recommending a number of initiatives that will allow the FSH Society to significantly increase financial resources and enable us to increase the level of FSHD genetic research. Those recommendations are as follows:
First, the Society must aggressively pursue FSHD genetic research and dramatically increase the level of funding available to researchers. It is very clear that FSHD genetic research could lose momentum. FSHD is, in fact, an orphan disease and it is up to us to make research happen. We need to make this our number one priority and pursue it with a passion. We will need the help of everyone concerned with FSHD as the cost of supporting a single genetic research project is approximately $500,000 annually.
Second, we must maximize our internal resources. As of December 1, 1996, the Society has collected $37,000 in donations with 300 paid members out of a total membership of 1,000. If the prevalence of FSHD is one in twenty thousand, then there are more than 15,000 people affected in the United States alone. Clearly, we have a significant opportunity to generate more funding. It is crucial that we be able to demonstrate impressive internal financial support before we launch an external campaign. We have all expressed a willingness to do something, anything, to help find a cure for FSHD. Research represents an opportunity for each of us to personally assist the scientific community in their efforts toward finding the cause and cure we all dream of. All it takes is money, persistence, and determination.
The FSH Society's Scientific Advisory Board can effectively provide the guidance we need to identify the most beneficial research projects as well as the financial resources required. At minimum, we should seek to fund one genetic research project internally and mobilize the entire FSH Society. Every member of the FSH Society will need to have a personal fund raising dollar goal, and a new member recruitment goal.
Third, we must aggressively recruit people with significant contacts in the corporate world to join us and champion this effort at the board level. Achievement of this goal is most important for a successful external fund raising campaign and our ability to achieve significant funding for the longer term. Everyone must be actively involved in identifying and recruiting new board member candidates.
The above recommendations will be made at the next FSH Society board meeting. Subsequent to this meeting, you will receive more information on the decision of the FSH Society board and our future direction. If you have any questions, suggestions, or need further information, please call me at 508/562-4303. Thanks again for your support. We appreciate it very much.
-Richard A. Lefebvre,
Secretary, FSH Society Board;
Chairman,
Fundraising Committee
The FSH Society, Inc., announces that the 1997 International Scientific Symposium on Facioscapulohumeral Muscular Dystrophy will be held on Saturday, April 12, 1997, as a satellite meeting of the American Academy of Neurology (AAN) Annual Meeting in Boston, Massachusetts. The purpose of this conference is to bring together scientists in the field to summarize current knowledge, plan future research strategies and establish collaborative research projects. Under the auspices of the FSH Society, an organizing committee with Rabi Tawil, M.D., Assistant Professor of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York; Robert C. Griggs, M.D., Professor and Chairman, Department of Neurology, University of Rochester School of Medicine and Denistry, Rochester, New York; and Barbara Weiffenbach Ph.D., Research Manager, Genome Therapeutics Corporation, Waltham, Massachusetts set the agenda and conference faculty. Dr. Tawil will chair the conference of leading FSHD researchers and clinicians from the United Kingdom, Europe, Japan, South America and the United States. The conference is open to neurologists and molecular geneticists actively engaged in research on neuromuscular diseases and FSHD in particular.
In July, 1994, an international FSHD symposium held in Japan proved essential to defining and implementing subsequent research strategies. In the ensuing three years, the FSH Society has worked to promote a meaningful exchange of scientific information on an international basis and organize the second international scientific conference. The active efforts of the FSH Society's President, Daniel P. Perez; Theodore L. Munsat, M.D., Board Member; the Board and Scientific Advisory Board including Robert C. Griggs, M.D. and Barbara Weiffenbach, Ph.D. have resulted in support from the AAN, government and other organizations to realize this symposium. As well as sponsoring the second international symposium on FSHD, the FSH Society will provide scholarships to enable two outstanding neuromuscular fellows-in-training to attend the conference to encourage young investigators with an interest in pursuing research careers in the muscular dystrophies.
The aim of the April, 1997, conference is a more formal and comprehensive presentation of the latest in FSHD research. The conference agenda will include presentations and discussions encompassing molecular genetics, molecular diagnosis and clinical research. The specific goals of the April 12, 1997, meeting in Boston will be to:
1) discuss strategies to find candidate genes: If position effect plays a role in FSHD, then the FSHD gene could reside far from the 3.3Kb repeats.
2) reach a consensus as to the criteria that need to be fulfilled by a candidate gene before it is confirmed as the FSHD gene.
3) consolidate and refine genetic-clinical correlations: Further definition of the genotype-phenotype correlations provides valuable information for use in genetic counseling and may suggest specific molecular mechanisms (i.e. a dynamic mutation as a cause for anticipation).
4) reach a consensus regarding diagnostic genetic testing. Felicetti et al recently described double-digest method that should result in a practical and accurate FSHD diagnostic test on small families. However, the utility of the method needs to be confirmed and guidelines set for its clinical use.
5) consider possible therapeutic interventions. At the present time, therapeutic interventions will, by necessity, be limited to the use of non-specific anabolic agents that can potentially slow disease progression. However, it is conceivable that, by the time of the proposed meeting, major advances in our understanding of FSHD will be achieved. Therefore more disease-specific therapeutic interventions will also be discussed.
The FSH Society is indebted to Dr. Tawil for his dedication to
the FSHD community, organizing and writing the proposal for the
conference and creating the opportunity to bring together extraordinary
professionals from around the world to advance the knowledge and
look for solutions to stop the progression of FSHD.
- Morgan Downey, J.D.
Now that the elections are finally over, all eyes turn to Congress. Hope is in the air that the major parties will pursue goals in a more middle of the road, cooperative attitude than in the last two years. Cynics don't hold their breath.
However, for the patients and scientists who look to expanding biomedical research through the National Institutes of Health, there is the mix of good news and bad. The good news is that in spite of the government shutdowns, dire talk of gloom and doom and hand ringing, NIH came out of last year's budget battles better than anyone expected. Credit has to go to Congressman John Porter (R-Il), Chairman of the House Appropriations Subcommittee and now-retired Senator Mark Hatfield (R-OR), Chairman of the Senate Appropriations Committee.
The bad news is both parties seem more committed to achieving a balanced budget. The so-called "discretionary" programs (those that are not entitlements or defense) will take the brunt of the cuts. Senator Hatfield's leadership on NIH funding will be missed. Finally, the Administration appears to be focusing its second term on children's issues, primarily education. This may mean focusing on putting money into the education side of the Labor, Health and Human Services and Education appropriations bill at the expense of health funding.
In sum, one has the sense that Congress will keep being more generous to NIH than the Administration but the depth of NIH supporters in Congress could be much better.
What does this have to do with members of the FSH Society? A lot.
While the appropriations committees are reluctant, especially in the House to "earmark" funds for research on particular diseases, no one can deny that a Member of Congress can help significantly in identifying diseases that for one reason or another are not getting attention in the research community. If the Member of Congress sits on the Appropriations Committee, and especially the subcommittees dealing with NIH budget, their concerns are heard loud and clear. These concerns can be expressed in questions to NIH witnesses when they testify before Congress on the NIH budget or on other occasions.
The process of connecting those concerned with FSH disease and Members of Congress is called grass roots lobbying.
Now is the time for the FSH Society to get into grass roots lobbying. What FSH needs is one (just one) Member of Congress who will help advance the cause of research on the disorder.
Effective grass roots lobbyists do not need campaign contributions, a Ph.D. in political science, or connections to the Members' family. The most effective grass roots lobbyists in the biomedical research area have two skills-a dedication to expanding research on their disorders and persistence in advocating that dedication. It is as simple as that. It helps to have someone who understands the process and that is the role I play for the Society.
To start the FSH Society grass roots campaign, we have listed below the members of the Senate and House appropriations Committees. Those in bold type sit on the Subcommittees dealing with NIH appropriations. (Note: some committee assignments may change in the next month.) Review the list. If one of the members is from your district or state, please contact the East Coast Office 617/860-0501 or the West Coast Office 619/632-5411 or me 202/466-0577 to discuss approaching the member. The political process has come out of the logjam of the last two years and is again open to effective lobbying. Now is the time for advocates of FSH research to pick up the ball.
If your member of Congress or Senators do not appear on these lists, keep in mind that they are still important figures and can still be helpful in many ways.
- Morgan Downey, J.D.
Counsel, FSH Society
Republicans | Democrats |
| Ted Stevens (AK) | Robert C. Byrd |
| Thad Cochran (MS) | Daniel K. Inouye (HA) |
| Arlen Specter (PA) * | Harry Reid (NV) |
| Pete Domenici (N.M) | Patrick J. Leahy (VT) |
| Christopher (Kit) Bond (MO) | Dale Bumpers (AR) |
| Slade Gordon (WA) | Frank R. Lautenberg (NJ) |
| Mitch McConnell (KY) | Tom Harkin (IA) * |
| Larry Craig (ID) | Barbara A. Mikulski (MD) |
| Conrad Burns (MT) | Bryan Dorgan (ND) |
| Richard C. Shelby (AL) | Herb Kohl (WS) |
| Launch Faircloth (NC) | Patty Murray (WA) |
| Judd Gregg (NH) | Ernest F. Hollings (SC) |
| Robert F. Bennett (UT) | Barbara Boxer (CA) |
| Ben Nighthorse Campbell (CO) | |
| Kay Bailey Hutchison (TX) |
Republicans | Democrats |
| Bob Livingston (LA) | David Obey (WS) |
| Joseph M. McDade (PA) | Sidney R. Yates (IL) |
| C.W. Bill Young (FL) | Rosa DeLauro (CT) |
| Ralph Regula (OH) | John P. Murtha (PA) |
| Jerry Lewis (CA) | Charles Wilson (TX) |
| John Edward Porter (IL) | Norman D. Dicks (WA) |
| Harold Rogers (KY) | Martin Olav Sabo (NM) |
| Joe Skeen (NM) | Julian C. Dixon (CA) |
| Tom DeLay (TX) | Vic Fazio (CA) |
| Jim Kolbe (AZ) | W.G. Bill Hefner (NC) |
| Todd Tiahrt (KS) | Steny H. Hoyer (MD) |
| Zack Wamp (TN) | James Moran (VA) |
| Ron Packard (CA) | Alan B. Mollohan (WV) |
| Sonny Callahan (AL) | Ed Pastor (AZ) |
| James T. Walsh (NY) | Marcy Kaptur (OH) |
| Charles H. Tayor (NC) | David E. Skaggs (CO) |
| David L. Hobson (OH) | Nancy Pelosi (CA) |
| Ernest Jim Istook (OK) | Peter J. Visclosky (IN) |
| Henry Bonilla (TX) | Thomas M. Foglietta (PA) |
| Joe Knollenberg (MI) | Esteban E. Torres (CA) |
| Dan Miller (FL) | Nita M. Lowey (NY) |
| Jay Dickey (AK) | John Olver (MA) |
| Jack Kingston (GA) | Jose E. Serrano (NY) |
| Tom Latham (LA) | Louis Stokes (OH) |
| Mike Parker (MS) | Carrie Meek (FL) |
| Rodney Frelinghuysen (NJ) | David Price (NC) |
| Roger F. Wicker (MS) | Chet Edwards (TX) |
| Michael R. Forbes (NY) | |
| George R. Nethercutt Jr. (WA) | |
| Anne Northrup (KY) | |
| Mark W. Newmann (WS) | |
| Randy "Duke" Cunningham (CA) | |
| Robert Aderholt (AL) |
*Chairman if Republican or ranking Minority Member if Democrat
of subcommittee dealing with NIH.
- Daniel P. Perez
What lies
behind us
and what lies
before us
are tiny matters compared to
what lies within us
- Ralph Waldo Emerson
What lies behind us? 1996 lies behind us.
I worked and fought hard to advance the cause for the FSHD community in 1996. In every arena of life there were numerous challenges of courage, natural consequences and sacrifices made for following my conscience. Nineteen-ninety-six was a hard year and there were times that I regretted-the death of people that I loved, the separation from those that I love, the issues with FSHD within and outside of my professional life, the awareness of the unfairness of situations involving FSHD, the increasing awareness of the courage it takes to live with FSHD, the courage it takes to follow my conscience, and the loneliness felt in following my conscience.
Each one of us decides the course that we will follow in the face of adversity and when meeting the challenge of courage. What, then, is the challenge of courage? According to Webster's dictionary, courage is "to be able to face and deal with anything recognized as being dangerous, difficult, or painful, instead of withdrawing from it." So then, how does one have or gain courage? Courage comes from one's own soul searching and it lies within us. Ultimately we must look inward for this quality. Courage cannot be directly imparted, given or supplied from without, but can be better defined through example and stories of past actions of courage.
Being involved with FSHD demands courage.
The backdrop against which I make this statement is the Del Mar conference. The 1996 FSH Society Patient Conference held in Del Mar was nothing short of brilliant. Many thanks to Paul Schultz, M.D., Stephen Jacobsen, Ph.D., Carol Perez and members of the invited faculty for making such a fine program available for those interested and involved with FSHD.
In the weeks following the conference, the realization of the courage presented by all in attendance became apparent to me. Each person there embodied and defined the meaning of courage-patient, spouse, parent, child, mother, father, son, daughter, sibling, physician, caregiver and researcher. We shared stories that all had the element of past and present courage. We were there to teach, learn and observe; to offer hope and inspiration; to gain the wisdom, assurance and solace that we are not alone with this issue. For me, it was further affirmation of the purpose of the FSH Society, of its mission, its meaning and of the work that we do that is so very important for those involved with FSHD.
Nineteen-ninety-six was a productive year for the FSH Society and FSHD. There were successes in 1996: the continued operation of East and West Coast offices, the continued flow of high quality information to those in need of it, the publication of the FSH Watch, the publication and distribution of the patient brochure, the Del Mar Conference, meetings with NIH-relevant agencies and companies to advocate for and to further raise awareness of FSHD, the re-submission of a grant for a NIH Scientific Symposium, positive indication for funding of the 1997 Scientific Symposium from the NIH, regular mailings to our membership, networking on all levels, the expansion of FSH Society support groups with the addition of Michigan, the identification of the first series of gene fragments from the 4q35 region, the development of genetic diagnostics with higher accuracy, the emergence of clinical trials for new therapeutic agents, the University of California Davis web site (disability.ucdavis.edu) and FSHD bulletin board service (bbs) approaching 500 logins per day, and many more.
There were also setbacks in 1996: the continuing need to attract, retain and maintain professionals and programs solely focused on FSHD, the loss of momentum on a decade-long project on FSHD, the frustration of not being able to protect the interests of FSHD research given the resources of the Society, the increasing body of information indicating the difficulty of the research and the confounding nature of the FSHD problem-albeit novel and scientifically interesting.
It is important to realize that all of this work is being done by an all-volunteer staff on roughly $40,000 per year. The work we do is done by a handful of dedicated, devoted and hard working individuals who are taking a courageous stand against great odds to effect change. A common thread among these individuals is the sense of unfairness and injustice endured by those who are involved with FSHD. They also have perspective on the sheer magnitude of the problem. Their conscience is clear about what is right and wrong, and tells them that neglect by others in positions to effect change is not acceptable.
We have a long way to go and much ground to cover through 1997 and beyond to the millennium. We need significant increases in financial and other resources to ensure continued advocacy for the FSHD population. It is evident that a treatment or cure for FSHD will require considerable risk and courage on the part of everyone.
What lies before us? 1997 lies before us, and there are six things you can do to help make this a successful year:
First, if every person diagnosed with FSHD in the United States were to contribute $100 annually, we would have $2,000,000 per year which would double the current level of national spending on FSHD. The support rate for the FSH Society is 30 percent and we need to increase the paid membership. Please make, at minimum, a membership contribution of $35 if you have not already done so. Please read Dick Lefebvre's letter in this issue. As chairman of the fundraising committee, he asks for your support.
Second, ask a handful of people who do not have FSHD to support the cause by making contributions or joining as members. Ask them to support you.
Third, if you have access to corporate or foundation support, or know of anyone who is interested in championing FSHD, please contact us.
Fourth, this will be a critical year in Washington DC. Please read Morgan Downey's letter from Washington and act on it any way that you can.
Fifth, it is important for us to show solidarity. Please try to attend the 1997 Network Day in Boston on Sunday, April 13, 1997. If you are interested in helping with activities on this day, please volunteer your services. There will be an opportunity to meet the international community of researchers following the FSH Society Scientific Symposium on Saturday, April 12, 1997, and to receive updates on FSHD research on the following day at the FSH Society Network day.
Sixth, please keep us informed with any news, interesting or relevant developments that relate to FSHD.
Within us lies the courage needed to make changes happen. Take the risk. Give us your commitment. More than ever, we need you now.
- Daniel Paul Perez, President,
FSH Society, Inc.
Facioscapulohumeral Dystrophy (FSHD) is a muscle disease with a frequency in the population of between 4 and 10 per 100,000. The disease is inheritable; the responsible gene is located on chromosome 4. The expression of symptoms requires inheritance of the defective gene from only one affected parent. An individual of either sex has a fifty percent chance of inheriting the gene from that affected parent.
The disease pathology includes a progressive loss of skeletal muscle with a usual pattern of initial noticeable weakness of facial, scapular and upper arm muscles and subsequent developing weaknesses of other muscles of the torso and lower limbs. Early facial weaknesses distinguish this disease from other neuromuscular diseases that can be similar in appearance. The age of onset is variable, as is the eventual extent and degree of muscle loss, but noticeable muscle weaknesses are usually present by the age of twenty and are recognizable in all but a small percentage of adults who carry the gene.
The prognosis includes both a loss of muscular strength that limits personal and occupational activities of most FSHD individuals, and a loss of mobility in perhaps twenty percent of the cases. Hearing loss and retinal abnormalities associated with FSHD have been reported, but the frequency of these effects and their relationship, if any, to the causative gene for the muscle defect are uncertain.
The Facioscapulohumeral Society (FSH Society) is an independent, non-profit and tax-exempt U.S. corporation organized to address issues and needs specifically related to Facioscapulohumeral Muscular Dystrophy (FSHD). Papers certifying its incorporation, bylaws and tax-exempt status are deposited at the corporation's east and west coast offices and the office of its General Counsel in Washington, D.C.
The FSH Society was created because of a need for a comprehensive resource for FSHD individuals and families. Purposes of the organization are:
The Society invites contact from any interested individuals, families,
physicians, caregivers, charitable organizations, government agencies,
industry, scientific researchers and academic institutions. Any
inquiries regarding membership, charitable donations, purposes
and goals or other issues pertaining to the Society and FSHD,
should be addressed to the east or west coast offices.
Current Happenings in Research
- Michael R. Altherr, Ph.D.
Dr. Michael R. Altherr chaired a Muscular Dystrophy Association-sponsored workshop in San Francisco, California in October, 1996. Topics and discussion leaders included Sequencing, Dr. B. Weiffenbach; Genes & cDNA Clones, Dr. R. Frants; Heterogeneity/Other Loci Dr. M Speer; Position Effect Model, Dr. S. Winokur; Non-Mendelian Inheritance, Dr. M. Zatz; Clinical Issues, Dr. K Mathews; Genetic Testing Issues, Dr. K. Arahata; and Other Species, Dr. J. Hewitt.
Summary: The gene responsible for FSHD remains elusive. Four years following the discovery of a molecular rearrangement that many suspect as an important contributor to the disease, there is no clear gene candidate. Researchers were buoyed this past year by the publication of the first bona fide gene from the region. Physical mapping studies have progressed beyond the assemblage of clones to actual DNA sequencing. Two laboratories have initiated major sequencing efforts. A total of near 50,000 bp of sequence at high coverage has been assembled and analyzed. Several putative transcription units have been identified and are being studied as gene candidates. Other previously identified gene candidates have undergone additional scrutiny but have failed to produce further insight. Evidence for locus heterogeneity, mosaicism, anticipation and the appearance of "non-disease" sized alleles with 4q linked disease continue to accumulate and to confound investigator's hopes for developing a simple genetic testing regimen. This is further complicated by the biologically exciting finding that interchromosomal exchange occurs between repeat containing loci from chromosome 4 and 10. These observations continue to fuel speculation on alternative molecular mechanisms that might play a causal role in this disease. Studies of chromatin structure have been undertaken and preliminary data suggest that the repeat segments may reside in a transcriptionally quiescent region of the genome. Finally, animal studies continue with the mouse as the experimental vanguard. There is hope that the cloning of the mouse myd mutation will identify the murine equivalent of the FSHD and lead the way to the human gene.
- Michael R. Altherr, Ph.D.,
Researcher, Life Sciences,
GENOMICS,
Los Alamos National Laboratory,
Los Alamos, New Mexico,
is a member of the
Scientific Advisory Board of the FSH Society.
Patient Trials of Proventil® (Albuterol) to Begin Soon
- John T. Kissel, M.D.
The Ohio State University and University Rochester are collaborating on a large multicenter study of a long-acting beta agonist agent (Proventil) in FSH dystrophy. The study will involve 90 patients, with approximately 45 being recruited at each center. The study is a double prospective, double blind, placebo-control trial that will involve three groups. One group of 30 patients will receive Proventil at 1 dose (8.0 mg twice daily), the second group of 30 patients will receive a higher dose of Proventil (16.0 mg twice daily), and the third group will receive placebo.
Patients will be evaluated several times over the course of the year for strength, muscle mass, and a number of functional parameters. This study is based on encouraging results that were obtained in a preliminary study done at the two medical centers.
In the research section of this FSH Watch, on page 15, is a copy of the information sent to patients. This study was recently funded by the Food and Drug Administration for $700,000 with Dr. John Kissel, of The Ohio State University as principle investigator and Dr. Rabi Tawil at the University of Rochester as site investigator. We are seeking participants for these studies.
- John T. Kissel, Associate Professor of Neurology,
Ohio
State University, Columbus OH
1997 FSH Society Network Conference
Individuals with FSHD, family and friends are invited to meet on Sunday, April 13, 1997 at the DoubleTree Inn in Waltham, MA (Boston). This will be an excellent opportunity to meet one another and the international scientists and researchers. Panel discussions and workshops are being planned for the day. More information and registration forms will be mailed, or you may call Carol Perez at 617/860-0501.
The FSH Society has secured a special room rate of $99 per night
at the DoubleTree Inn for a suite that sleeps up to four. There
are a limited number of rooms available at that price so please
make your reservations early. Call the DoubleTree Inn at 800-222-TREE,
or (local) 617-890-6767.
The Search for the Gene Continues
- From the Newsletter FSHD Number 15, November 1996; a publication of the Vereniging Spierziekten Nederland (VSN), translated by Mark T. Reder
Professor Dr. R.R. Frants, an anthropogeneticist in Leiden, has good hopes that the gene involved in FSHD will be found next year. On this optimistic note he concluded his contribution to the annual contact day, 1996. Before dealing with the present-day situation in the search for the gene involved in FSHD, Professor Frants recapitulated some general aspects of the genetics, to wit that the hereditary information is stored in the chromosomes located in the nucleus of our body cells; that we have 22 pairs of chromosomes and two sex chromosomes (the X and Y chromosome); that one-half of these chromosomes derives from the father and the other half from the mother; that chromosomes are constituted of DNA (desoxyribonucleineacid); that the DNA in humans contains "recipes" (genes) for about 75,000 characteristics; and that a genetic defect is a misprint in the recipe (a mistake in the "code of a gene" for a particular quality [a mistake in "the code of a gene": scientists generally talk in terms of "coding genes for a particular hereditary quality"]).
At the present state of scientific knowledge the gene involved in FSHD is situated on chromosome 4, one of our largest chromosomes. In order to find out if there is something wrong with this gene, it first has to be isolated. During recent years, scientists all over the world are searching for this gene.
Missing DNA fragment on chromosome 4
Some years ago it was discovered that DNA material is missing from one of the ends of chromosome 4 (a so-called "deletion"). The missing piece of DNA material is relatively large. However, the size of the missing fragment may differ from one family to another. According to accepted theories of genetics, the gene involved in FSHD is supposed to be situated in the area where the deletion occurs. However, this turned out to be not so. Not a single researcher has been able to discover a gene in the missing DNA material, for any hereditary trait whatsoever, including the gene connected with FSHD.
Position-(effect)-model
Since no gene was discovered in the area of the deletion, the question arose: "What's going on here?" Researchers, particularly Ciska Wijmenga of Leiden, concluded that as a result of the fact that DNA material is missing, structural changes occur in "folding and rolling" of DNA in compact form (which we call a chromosome), that the gene involved in FSHD becomes partially inactivated. In other words, "the recipe cannot be read," the gene cannot be expressed. The idea, therefore, implies that the deletion affects the activity of neighboring genes to that deletion, and therefore probably also the gene involved in FSHD. This idea is called the position-(effect)-model.
Candidate genes
Then the question naturally arises: "Are there genes in the vicinity of the deletion who are candidates for the gene involved in FSHD?" At Leiden, during the past year and a half, three "candidate genes" have been examined to see if they might be involved in FSHD.(Those genes are designated by the name of FRG-1 (Judith van Deutekom last year still gave this the designated code of B7), FRG-2 and Tubuline. The code FRG-1 designated "FSHD-Regio-Gene-number-1.")
Research has shown that these three genes are probably not involved in FSHD. Moreover, a large problem arose. It became evident that the area in which the gene involved in FSHD was supposed to be situated is almost identical to areas on other chromosomes. In Leiden they fortunately were able to improve the research technique in such a way that one can narrow the research to exclusively the area in question on chromosome 4: "We now have the technology to find candidates for FSHD. We are now operational, however, if we, or others, find the gene, this does not mean that we know how the gene works."
Diagnosis FSHD
Problems also occurred in determining the diagnosis. The shortened DNA fragments found on chromosome 4 in families turn out to appear also on chromosome 10. An Italian research team published a method at the end of 1995 to cut up the chromosome 10 fragments biochemically in such a way that they can no longer be confused with those of chromosome 4. Obtaining this technique was an important breakthrough for FSHD diagnostics. With the aid of this, the FSHD diagnosis can be determined with a certainty of about 98 percent in most cases.
Exchange of DNA material between chromosomes
Now there are also indications that the ends of chromosome 4 and 10 quite often exchange DNA material. Genetically considered this is a very interesting phenomenon. It was already known that identical chromosomes-for instance, chromosome 2 derived from the father and chromosome 2 derived from the mother-can exchange hereditary material. This phenomenon does not hurt as long as no hereditary information is lost in this exchange. Apparently such an exchange of genetic material can also occur in non-identical chromosomes; in this case between the ends of chromosome 4 and 10. This may happen because the structure of these ends is very similar. Professor Frants thinks there is sufficient indication to warrant the assumption: "If we find a shortened chromosome 4 fragment, even if it is situated (exchanged) on chromosome 10, this will have consequences for the activity of the gene involved with FSHD."
Note: Genetically viewed, something very special occurs with FSHD.
First of all, there is a relatively large deletion 3.3 kb in the
4q35 region of chromosome 4. This area distinguishes itself by
a large number of repetitions of one and the same piece of DNA,
the so-called "repeats." Furthermore, there is the
exchange of DNA material between chromosomes 4 and 10. This phenomenon
is called "crossing over." Finally, there is the
likelihood of a position-(effect)-model, which is to say that
the deletion influences the activity of the gene involved in FSHD
elsewhere on the chromosome (this phenomenon has been demonstrated
already for animals, but sofar never with humans.)
Calling All Teens: Teen Network Forming
Hi FSH Friends: Getting together and meeting you at the conference in California was exciting! Especially great was that it gave you the change to meet others in your age group who are dealing with FSHD like yourself. Being a parent with FSHD, and having a child with FSHD, enables me to appreciate how important this can be. I hope that your experience at the November conference was a positive one and it brought you closer to finding out what FSHD is all about.
For those who were not able to make this event, we are having another in April, 1997, and we developed the networking idea! This link will be your way of communicating with your peers. No one can understand better the challenges you are facing. Now you can connect via telephone, mail, or on-line. After April's conference we will add more names to the list.
Until then, chat back and forth with those available and see how
incredible it feels to have a "pen pal" or a new
friend! Please send me your name and any other names you'd
like to add or ideas you'd like to see happen. This is
your network and I hope it works for you. I'm only keeping
the data base. You're in charge of all the rest. Always,
Karen Johnsen, FSH Support Group Coordinator, 12203 Foxhill Lane,
Bowie, MD 20715 (301) 262-0701m KJAY1@aol.com
Web Pals Wanted
Greetings from OZ. I'm Ray and I've got FSH, too. I'm in Melbourne, Australia and I'd like to hear from you. The e-mail address is:rrev@webnet.com.au
Mr. Ray Jordan
86 Barry St., Reservoir
Victoria 3073, Australia
Pen Pal Wanted
Craig Eynon,
P O Box 1152
Mead, WA 99021
509/466-1956
Craig is fourteen and would like to hear from others with FSHD
especially about the scapula fixation procedure.
Vietnamese Speaking Pen Pal Wanted
A member of our group has moved to New York from Vietnam and would
like to have contact with someone who speaks Vietnamese and is
familiar with FSHD. Please contact Marilyn Meisel, Tri-State FSH
Society Support Group at 718/357-5079.
I would like to discuss research opportunities in my laboratory
with individuals interested in studying the molecular biology
of FSH dystrophy. I am primarily interested in individuals looking
for post doctoral research opportunities. However, I would also
be willing to discuss graduate school opportunities for individuals
looking for an interesting thesis topic. Please feel free to contact
me, Michael R. Altherr, at (505) 665-6144 or e-mail at ALTHERR@LANL.GOV
Brain and Tissue Banks for Developmental Disorders
The Brain and Tissue Banks for Developmental Disorders at the University of Maryland in Baltimore and the University of Miami are tissue resources established to further research aimed at improved understanding, care and treatment of developmental disorders. The Brain and Tissue Banks were funded by the National Institute of Child Health and Human Development to serve as intermediaries between people who wish to have tissue donated for research upon the time of their death and the researchers who need this tissue for their vital work.
The Banks have set up a National Registry of donors so that information necessary for the rapid recovery of tissue at the time of a donor's death is available to us. It is very important to register in advance. In order for tissue to be viable for research, retrieval must be enacted within eight, or at most 24-hours after death. Time is therefore of the essence and without some advance planning the Banks may find it impossible to retrieve tissue.
The Banks can work with families and individuals from all areas of the United States. Please consider registration with the Banks nearest you. It is important, however, to register with only one Bank.
If you are interested in becoming a registered donor, or if you have any questions or concerns regarding the donation process, please contact Sally Wisniewski, Project Coordinator, at 1-800-847-1539. This number is answered on a 24-hour basis so that we are able to respond swiftly to emergencies. You may leave a message at any hour, and we will respond as soon as possible. All inquiries are important to us, and no question is too small.
Thank you for taking the time to consider the possibilities offered to humanity through the great gift of tissue donation. Internet site: gopher://gopher.btbank.ab.umd.edu:1070
H. Ronald Zielke, Ph.D., Director
Sally Wisniewski, B.A., Project Coordinator
University of Miami
Department of Neurology (D 4-5), Room
427A Fox Building
1550 NW 10th Avenue
Miami, FL 33136
1-800-59-BRAIN, FAX: 305/547-6970
Stuart A. Stein, M.D., Director
Elsa Robinson, R.N., Project Coordinator
Sao Paulo, Brazil
Researcher(s): M. Rita Passos-Bueno,
Mayana Katz
Address: Departmento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matao 227, 05508 Sao Paulo, SP Brazil
Interest(s): Clinical and occupational
Bristol, England
Researcher(s): Peter Lunt, Philip Jardine
Address: Bristol Royal Hospital for Sick Children, Clinical Genetics Service, St. Michael's Hill
Bristol BS2 8BJ, England
Interest(s): Molecular genetics and clinical
Cardiff, England
Researchers: Peter Harper, Meena Upadhyaya
Address: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, England
Interest(s): Molecular genetics
Manchester, England
Researcher(s): Jane Hewitt, Robert Lyle, Lorraine Clark, Elizabeth M. Valleley
Address: Department of Cell and Structural Biology, Stopford Building, University of Manchester Medical School, Oxford Road, Manchester M13, United Kingdom
Interest(s): Molecular genetics
Boulogne, France
Researcher(s): Yves Rideau
Address: Unite Duchenne de Boulogne, Centre Hospitalier Universitaire, BP 577, 86021 Poitiers Cedex, France
Interest(s): Orthopedic Surgery (Scapula Fixation), Corrective
Procedures for FSHD.
Cedex, France
Researcher(s): Claude Diaz, Ph.D.
Address: Association Francaise contre les Myopathies (AFM), 1 rue Internationale, BP59, 91002 Evry Cedex, France
Interest(s):
Abstract: Evaluation of scio-familial and clinical status in facio-scapulo-humeral muscular dystrophy: Results of a survey of 270 French patients
A survey of facio-scapulo-humeral muscular dystrophy (FSHD) patients
was designed to reveal various aspects of this disorder, as experienced
directly by the affected individuals. In addition to our questions
on the medical status (diagnosis, functional impairments, pain,
and treatment), our questionnaire which was returned by 270 individuals
representing 10 percent of the patients affected by this disorder
in France, included questions on psychological and social aspects
of this disease. Our results confirm findings reported in the
literature concerning the age at onset (between age 10 and 20),
the nature of functional impairments, therapeutic management (notably
physical therapy) and the lack of influence of the disease on
childbearing. On the other hand, our results differ from previous
studies in terms of (1) patient reactions to the disclosure of
the diagnosis, which was said to be usually received calmly by
the patient and did not systematically lead to emotional trauma,
(2) less homogeneity in functional impairments: we found two subgroups
of different severity: the most severely affected group, which
represented around 25 percent of our subjects, was wheelchair-bound,
(3) pain, which was mentioned by over half the patients, and (4)
professional status: 37 percent of the patients were employed.
Finally, although no major psychological problems were found,
comments by the respondents demonstrated a tendency to a "melancholiform"
type of existence.
Paris, France
Researcher(s): Michael Fardeau
Address: Institut National de La Sante et, de le Recherche Medicale, 17 Rue du Fer-a-Moulin, 75005 Paris, France
Interest(s): Clinical
Researcher(s): Marc Jeanpierre, Jean-Claude Kaplan
Address: Hospital Cochin-Maternites, Sericede Biochemie Genetique 123, Boulevard de Port-Royal, 75014, Paris, France
Interest(s): Molecular genetics
Rome, Italy
Researcher(s): Giancarlo Deidda, Luciano Felicetti, Rossela Tupler
Address: Department of Molecular Biology, Istituto di Biologia Cellulare,
43 viale Marx, 00137, Roma, Italy
Interest(s): Molecular genetics
Tokyo, Japan
Researcher(s): Kiichi Arahata, J.H. Lee, Chirhiro Akazawa
Address: Division of Neuromuscular Research, National Institute of Neuroscience, NCP, 4-1-1
Ogawahigashi, Kodiara, Tokyo, 187, Japan
Interest(s): Molecular genetics and clinical
Leiden, Netherlands
Researcher(s): Oebo F. Brouwer
Address: Department of Neurology, University Hospital Leiden, P.O. Box 9600, 2300 RC Leiden, The Netherlands
Interest(s): Molecular genetics
Researcher(s): Rune Frants, Nicole Datson,
Judith C.T. van Deutekom,
Marten Hofker, Egbert Bakker
Address: Institute for Anthropogenetica, MGC-Department of Human Genetics, Leiden University
Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Nijmegen, Netherlands
Researcher(s): George W.A.M. Padberg, Oscar Vogels
Address: Institute for Neurology, University Hospital Nijmegen, Department of Neurology, Reinier Postlaan 4, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
Interest(s): Molecular genetics and clinical
St. Petersburg, Russia
Researcher(s): Valery M. Kazakov, Dimitry Rudenko
Address: Department of Neurology, Pavlov's Medical Institute, L. Tolstoy Str. 6/8, 197089 St., Petersburg, Russia
Interest(s): Clinical
Update: Why did the heated discussion arise between ERB and Landouzy-Dejerine concerning the priority in describing FSHD. Excerpts from Acta Cardiomiologica Suppl. Nov./Dec. 1996, Valery M. Kazakov
Duchenne de Boulogne was the first who described of the FSHD (a gradually descending variety-author's note) as a clinical and genetic entity under the name progressive muscular atrophy of childhood (PMACH) in 1855-1872, and Landouzy-Dejerine and Erb admitted the priority of Duchenne in describing this variety. At present another name was offered for this disease- "facioscapulolimb muscular dystrophy, type 1 (FSLD1): a gradually descending with initial facioscapulohumeral (FSH) phenotype, autosomal dominant". If to go on using eponym designations, the eponym "Duchenne de Boulogne" should be added to this very type of muscular dystrophy.
Landouzy and Dejerine were the first to suggest using an anatomical definition for this disease, i.e. the FSH type in order to present it as a special variety of myopathy and separate it from PMACH of Duchenne.
However my investigations that had taken in 1969-1974 and then in 1993 when some of patients were reexamined after 24 years showed that "pure" FSH type as a nosological entity does not exist. This is only the phenotype, special topography of muscle weakness, that can by observed at the initial phase of the disease and only at the patients with a gradually descending variety of muscular dystrophy, i.e. the FSLD1.
Thus some patients described by Landouzy and Dejerine with the diagnosis FSH type correspond to PMACH of Duchenne.
However, in Landouzy and Dejerine's casuistry there were patients who differed from the patients described by Duchenne taking into consideration the extension of muscle affection. These patients corresponded to the cases of juvenile shoulder-girdle (JSG) form of Erb when in lower extremities it was neither the proximal parts not the pelvic girdle, but the peroneal group of muscles, especially anterior tibial, that was severely involved.
In my opinion, a new name (FSH type) that was used by Landouzy and Dejerine was intended for distinguishing this very special variety of muscular dystrophy.
Chronologically Landouzy was the first to find out such type of the extension of muscle atrophies. However, at that period and in the following years the clinical peculiarities of this variety were not sufficiently designated and this variety was not differentiated from the gradually descending variety, i. e. from PMACH of Duchenne.
As a result of this it happened so that PMACH of Duchenne (a gradually descending variety) and JSG form of ERB (a descending variety with a "jump", author's note) were "absorbed" by FSH type of Landouzy and Dejerine and the priority in describing both diseases passed over to these two French physicians.
The famous discussion between Erb and Landouzy-Dejerine dealt with the priority of recognition and description of this very special variety characterized by a "jump" of the myodystrophic process from the upper part of the body to the peroneal group of the muscles.
Erb was the first to distinguish this special variety of muscular dystrophy as a clinical entity. he was the fist to describe a "hard" pattern of muscles that were isolately affected and preserved in this variety and he also established the early involvement of the anterior tibial muscles. For diagnosing the disease, Erb attached great importance to the presence of stereotypical patterns of muscle affectations and not to extent and time of involving of the mimic muscles that could be preserved at some patients.
However, an autosomal dominant mode of inheritance of this special variety was established by landouzy and Dejerine in 1885. The name "facioscapulolimb muscular dystrophy, type 2 (FSLD2): a descending with a "jump" with initial facioscapuloperoneal (FSP) phenotype, autosomal dominant: was offered for this disease. If to go on using eponym designations, then the eponym "Erb, Landouzy and Dejerine" should be added to this very special variety of muscular dystrophy.
Thus, one of the main reasons of the historical discussion is
the discovery of the clinical heterogeneity of FSHD by Erb and
Landouzy-Dejerine as far back as the XIX century.
Pretoria, South Africa
Researcher(s): Antonel Olckers
Address: University of Pretoria,
Dept Human Genetics and Developmental Biology,
PO Box 2034,
Pretoria, South Africa 0001
Interest(s): Molecular genetics
Update:
We plan to screen all the SA families for the 3.2 kb deletion
next year with the marker that was kindly donated to us by Dr.
Weiffenbach. This year we focused on getting the protocols standardized,
contacting families, and a small pilot study to prepare the project
for 1997. Hopefully this will all work out according to plan and
bring us closer to providing a diagnostic service for the South
African FSHD families.
Marburg, West Germany
Researcher(s): Manuela Koch
Address: Institut for Humangenetic der, Philipps-Universitat, Bahnhofstr, 7A, D-3500 Marburg, West Germany
Interest(s): Molecular genetics
Abstract: Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal
dominantly inherited neuromuscular disorder affecting facial and
shoulder girdle muscles with subsequent progression to the pelvic
girdle and lower extremities. The major gene involved has been
localized to chromosome 4q35 (FSHD1A). The 4q35 DNA marker p13E-11
(D4F104S1) detects a de novo EcoRi DNA rearrangement of <30
kb in isolated and familial cases. The intrafamilial size of the
fragment is constant, inversely correlated with the severity,
and directly correlated with the age of onset of the condition.
There has been evidence of parental mosaicism in FSHD1A for the
D4F104S1 locus. Four female and three male clinically unaffected
parents have been described to be carriers of EcoRI fragments
of the same size as their affected offspring, but with a markedly
less intensive hybridization signal (semi-quantitative evidence).
In our total sample of 42 FSHD1A families, we found semi-quantitative
evidence of parental D4F104S1 mosaicism in 11 families (EcoRI
fragment size range: 12-27 kb). On analysis with adjacent 4q35
probes (D4S163, D4S139), additional qualitative evidence of germline
mosaicism could be obtained in two families. In our mosiac families
and in the families reported in the literature, a female predominance
of mosaicism carriers (13 females versus 5 males) could be noted.
In our sample, mosaicism was observed in multigeneration families,
in families with isolated cases, and in families with two and
three affected children from seemingly unaffected parents. A short
EcoRI fragment once having emerged in a mosaicism a carrier was
found to be transmitted autosomal dominantly to subsequent generations.
Of all reported sporadic patients, 19% have a mosaic parent. Finding
evidence of parental mosaicism in all our families with more than
one affected child of seemingly unaffected parents suggested that
there is no autosomal recessively inherited form of FSHD1A.
Davis, CA
Researchers: M. Brewer; D.D. Kilmer; R.T. Abresch; S.G. Aitkens; G.T. Carter; W.M. Fowler; E.R. Johnson; C.M. McDonald; N.J. Wright
Address: Research and Training Center on Neuromuscular Disease, Department of Physical Medicine and Rehabilitation, University of California, Davis, TB 191. Davis, CA 95616-8665; and National Institute on Disability & Rehabilitation Research
Interest(s): Rehabilitation, Occupational and Clinical
Update:
We have administered our 24-page Quality of Life Summary (QOLS) to 620 adults with neuromuscular diseases. Preliminary results from this survey have been tabulated and reveal information regarding the following issues: (1) perceived health, (2) insurance coverage and satisfaction, (3) degree of disability, (4) availability and accessibility of transportation, (5) locus of control, (6) life satisfaction and well-being, (7) education and vocational rehabilitation, (8) income and benefits, (9) employment, (10) social support, (11) personal assistance and attendant care, (12) disability identity, (13) information sources and needs, (14) sexuality, (15) use of computers, and (16) demographics. So far we have received surveys from 39 individuals with FSHD.
Our initial focus groups have shown that one of the major problems
for people with neuromuscular diseases was access to information.
Over and over people complained that they did not know where to
get help with various aspects of their disability. Another major
complaint was that service providers knew very little about their
disease. Preliminary results from our survey corroborate well
with our focus groups. Over 25 percent of individuals with neuromuscular
diseases find it very hard or almost impossible to obtain information
about services that help them with their medical care. Another
30 percent find it somewhat hard to obtain information about services
that help them with their medical care. Over 50 percent of the
individuals found that the most common sources of disability information
(physicians, rehabilitation counselors, and other professionals)
were only slightly helpful or not at all helpful at providing
information regarding their disease or disability. These results
emphasize the need for organizations like the FSH Society that
can advocate for individuals with FSHD.
Irvine, CA
Researcher(s): Sara T. Winokur; Ulla Bengtsson; Michael Altherr*
Address: University of California, Irvine, School of Medicine, Department of Biological Chemistry, D240 Medical Science Institute, Irvine CA 92717
Interest(s): Molecular genetics
Interest(s): Molecular genetics
Notes: *Michael Altherr is currently with the Genomics and Structural
Biology Group, LANL, Los Alamos, NM
Los Angeles, CA
Researcher(s): Stanley F. Nelson
Address: University of California, Room 3256, RNRC, 710 Westwood Plaza, UCLA Medical School, Los Angeles, CA 90024
Interest(s): Molecular Genetics
Iowa City, IA
Researcher(s): Kathrine Mathews; Brian Shute; Kate Mills; Julie Fedderson; Holly Bailey; Jeff Murray
Address: Department of Pediatrics, 216 MRC, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242
Interest(s): Molecular genetics , clinical and mouse model
Boston, MA
Researcher(s): David C. Preston
Address: Brigham & Women's Hospital, 75 Francis Street, Boston, Massachusetts 02115
Interest(s): Neuromuscular Service
Researchers: Barbara E. Shapiro, Neurology Service
Address: Massachusetts General Hospital, 15 Parkman Street, Acc #835, Boston, Massachusetts 02114
Interests: Clinical and nutritional
Waltham, MA
Researcher(s): Barbara Weiffenbach, Susan Manning, Zying Liu
Address: Genome Therapeutics, Corp.
Department of Human Genetics, 100 Beaver Street, Waltham, Massachusetts 02154
Interest(s): Molecular genetics
Los Alamos, NM
Researcher(s): Michael R. Altherr
Address: Life Sciences Division,
Los Alamos National Laboratory,
Mail Stop M880
Los Alamos, New Mexico 87545
Interest(s): Molecular genetics
Update:
The work in my laboratory continues to focus on the identification
of genes likely to contribute to FSH dystrophy as well as molecular
mechanisms that might modulate gene expression as a result of
the loss of 3.2 kb repeats previously associated with FSHD. Toward
this end, an outstanding postdoctoral fellow, Sara T. Winokur,
working in my laboratory at the University of California, Irvine
has recently published a paper in the Journal Human Molecular
Genetics (volume 5: page 1567-1575). This paper describes several
lines of research that we pursued in an effort to better understand
the molecular basis of FSHD. In brief, we utilized the technique
of flourenscence in situ hybridization (F1SII) to examine whether
the repeats are likely to play a role in sub-nuclear localization
of the chromosomes in interphase nuclei and to follow up previous
studies that looked at the distribution of this sequence in other
primate species. One of the great difficulties in finding the
gene responsible for FSHD has been the amplification and dispersion
of sequences in the vicinity of the FSHD gene localized to the
terminus of the long arm of chromosome 4. In humans, this pattern
has become quite complex with similar sequences found at perhaps
greater than 10 distinct locations. In her study, Sara and our
Research Associate, Ulla Bengtsson, were able to demonstrate that
the likely progenitor locus for this dispersion was, in fact,
the long arm terminus of chromosome 4. Furthermore, while lower
primates exhibit significant cross hybridization to the 3.2 repeat
there is considerably less dispersion of these sequences in these
species. This had led us to pursue a strategy of gene cloning
from Rhesus monkey, a distantly related primate with relatively
low numbers of 3.2 repeats. Any bone fide genes isolated from
the terminus of chromosome 4 will be valuable to study regardless
of their origin.
Rochester, NY
Researcher(s): Robert Griggs; Rabi Tawil; Denise Figlewicz; Lynn Cos; James Forrester; Michael McDermott
Address: University of Rochester School of Medicine, Department of Neurology, 601 Elmwood Avenue;, P.O. Box 673, Rochester, New York 14642
Interest(s): Molecular genetics and clinical
Update:
Request for participants. We are currently recruiting persons with FSH Muscular Dystrophy to participate in a double-blind research trial of Proventil® (Albuterol) vs. placebo in the treatment of FSHD. Proventil® is a medication used to treat asthma but has shown experimentally to increase muscle bulk and strength in normal individuals. Participants in this study must be between 18 and 60 years of age and should not have a history of heart disease or high blood pressure. Eligible subjects will be taking the experimental treatment for one year and strength and muscle mass will be measured during 3 day inpatient visits at the start, 6 months, and 1 year (end of study). Participants are also expected to return for two outpatient visits, at 1 and month 3 to check for side effects.
If you are interested in participating in this study, or would
like more information, please call Lynn Cos, R.N. at (716) 275-7680.
Durham, NC
Researcher(s): Margaret Pericak-Vance, John R. Gilbert, Marcy Speer
Address: Duke University Medical Center, 227D Bryan Research Building, P.O. Box 2900, Durham, North Carolina 27710
Interest(s): Molecular genetics
Columbus, OH
Researcher(s): Jerry Mendell, John T. Kissel
Address: Department of Neurology, Ohio State University Hospitals, Room 463-Means Hall, 1654 Upham Drive, Columbus, Ohio 43210
Interest(s): Clinical
Update:
Request for participants. We are soon to start a clinical trial of a medicine called Proventil® for facioscapulohumeral muscular dystrophy. Proventil (drug name, albuterol) is an epinephrine-like drug usually used for asthma and other lung diseases, which in preliminary studies increased muscle mass in patients with FSH. We are quite excited about the study, and are already getting calls from patients. Although we know that many of you will not be eligible for the study, we thought you would be interested in reading about it.
The study is being done in conjunction with the University of Rochester in Rochester, New York. The plan is to study 100 patients who will be randomized into 1 or 3 groups, namely low-dose Proventil, high-dose Proventil, and placebo. None of the investigators involved in the study will know which group you are assigned to until the whole study is completed. Because of the nature of the study, we are restricting it to patients between the ages of 18 and 60 who are able to walk at least 30 feet. The study involves three hospital stays of three days each in the Clinical Research Center at the beginning of the study and after 6 and 12 months. Two additional out-patient visits one month and three months after the start of the study will also be required.
Although Proventil is a safe drug, it does have side effects which are outlined in the consent form (and will be discussed with you in details before you agree to participate). Since the medication does have effects on the heart, we are obtaining screening electrocardiograms on all patients before they participate. In addition, we are asking any patients who are considering being in the study who have had any type of chest pain, rapid heart beats, shortness of breath, previous abnormal EKGs, a prominent family history of heart disease or other symptoms which have caused them concern to please consult their family doctor before being evaluated for participation. People with known prior heart disease, including prior heart attacks or rhythm disturbances, will unfortunately have to be excluded from the study. If there are any questions concerning the status of your heart, we can have you evaluated by one of our Ohio State University cardiologists, but this must be covered by your own private insurance and will not be paid for as part of the study.
Our present plan is to recruit 50 patients each at Ohio State
and the University of Rochester. We anticipate there will be a
place in the study for everyone who wants to participate. Please
call Karen Downing, our study coordinator, at 614/292-1234 if
you are interested in participating. We may ask to have your medical
records sent here to review if you are not one of our regular
patients.
First National FSH Society Patient Conference a Success!
On November 16, at the Del Mar Hilton in Del Mar, California (San Diego), over 80 members met for the first national FSH Society Patient Conference. For the FSH Society, the location was particularly significant. Four years ago, at this site, a small group of people met with Dan Perez to begin the realization of his dream for an FSHD organization. Living with FSHD is perhaps best confronted with a mixture of fellowship, courage, knowledge, and hope from expanded genetic studies to discover the cause of and treatment for FSHD. The FSH Society designed this conference to help fulfill those purposes.
For all FSHD participants and families who attended there was a new realization or reaffirmation that they are not alone, that one can live a full life with FSHD with dignity and success, and that the progress of genetic studies provides hope for the future. The Society is indebted to Dr. Paul Schultz, chairman of the Scientific Advisory Board, and members of the general board of the FSH Society, who brought together an outstanding faculty to the Conference. Their comments spanned important topics of many aspects of FSHD: knowledge of the nature of FSHD, orthopedic approaches, physical and occupational therapy, genetic research for FSHD, genetic counseling and support groups, and quality of life in general. The Society is further indebted to Dr. Irwin Siegel, Alicia Ryden, Jill Peck-Murray, Dr. Sara Winokur, Kathy Carder, Cheryl Stigall and Ted Abresch for their participation and knowledge. Thank you, also, to Mr. Frank Bishop, an attending participant who videotaped the proceedings of the conference.
Thank you for the very positive comments from all of those who
attended. On Sunday, April 13, 1997, the FSH Society will sponsor
an FSH Society National Network Conference at the DoubleTree Inn
in Waltham (Boston), Massachusetts. Contact Carol Perez at the
East Coast Office, (617) 860-0501, of the Society for information
and to make your plans to attend.
Workshop I
Daniel P. Perez, B.A.
Founding President of the FSH Society, Inc.ñWelcoming
remarks
Stephen J. Jacobsen, Ph.D.
Co-founder of FSH Society, Inc.ñProgram overview
Paul Schultz, M.D.
Director of Muscular Dystrophy Clinic at Children's Hospital,
San DiegoñDefinition of FSH Dystrophy and related conditions
Irwin Siegel, M.D.
Associate Professor of Neurological Sciences,Orthopedics, Physical
Medicine and Rehabilitation at Rush-Presbyterian-St.Luke's
Medical Center, Chicago IL- Orthopedic approaches to shoulder
and spine problems
Alicia Ryden, P.T.
Private practice of physical therapy in El Cajon, CaliforniañWhat
physical therapy can do for shoulder and gait problems
Jill Peck-Murray, O.T.R.
Occupational Therapist at Children's Hospital, San DiegoñWhat
occupational therapy can do for shoulder and arm problems
Sara Winokur, Ph.D.
Fellow in Human Genetics at University of California at IrvineñGenetic
research in FSH Dystrophy
Kathy Carder, M.S.
Genetics Counselor at Children's Hospital, San DiegoñWhat
genetic counseling can do for a FSHD family
Cheryl Stigall, LCSW
Clinical Social Worker at Children's Hospital, San Diego-Support
groups "Let's Talk"
Ted Abresch, M.S.
Director of the quality of life and community integration program
at Research and Training Center for Neuromuscular Diseases at
UC Davis - Quality of life and community integration:The
Internet Tool
Karen Johnsen, A.A.
FSH Society Board Member: Coordinator of the Mid-Atlantic FSH
Support GroupñWorkshop
Carol Perez, M.Ed.
Certified Rehabilitation Counselor, Executive Director of the
FSH Society, Inc.ñRegistration & Workshop
1995
Altherr MR, Bengtsson, U, Markovich RP, Winokur ST, (1995). Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 2:S32-8.
Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, Nonaka I, (1995). Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analysis. Muscle Nerve Suppl 2:S56-66.
Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR, (1995). The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve Suppl 2:S39-44.
Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR, (1995). Early onset facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 2:S67-72.
Deidda, G., Cacurri, S., Grisanti, P., Vigneti, E., Piazzo, N. and Felicetti, L. (1995). Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur. J. Hum. Genet. 3: 155-167.
Furukawa T, (1995). Neurogenic FSH muscular atrophy. Muscle Nerve Suppl 2:S96-7.
Gilbert JR, Speer MC, Stajich J, Clancy R, Lewis K, Qiu H, Yamaoka L, Kumar A, Vance J, Stewart C, Rozear M, Roses AD, Pericak, Vance MA. Exclusion mapping of chromosomal regions which cross hybridise to FSHD1a associated markers in FSHD1B. J Med Genet (1995) 32:770-773.
Goto K, Lee JH, Matsuda C, Hiraayashi K, Kojo T, Nakamura A, Mitsunaga Y, Furukawa T, Sahashi K, Arahata K. (1995). DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromuscular Disorders (1995) 5(3):201-08 Pergamon-Elsevier Science Ltd.
Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D Weiffenbach B, (1995). Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group. Muscle Nerve Suppl 2:S50-5.
International Symposium on Facioscapulohumeral Muscular Dystrophy, Clinical and Molecular Genetic Aspects of the Disease. Kyoto, Japan, July 10, 1994. (1995). Muscle Nerve Suppl 2:S1-109.
Kazakov VM, Rudenko DI. Clinical variability of facioscapulohumeral muscular dystrophy in Russia. Muscle Nerve (1995) Suppl 2:S85-95.
Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler, WM Jr., Johnson ER, McDonald CM, (1995). Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil (1995-Sep-Oct) 74(5 Suppl): S131-9.
Lee JH, Goto K, Matsuda C, Arahata K, (1995). Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve Suppl 2:S6-13.
Lee JH, Goto K, Sahashi K, Nonaka I, Matsuda C, Arahata K, (1995). Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 2:S27-31.
Lunt PW, Jardine PE, Koch M, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. (1995). Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 2:S103-9.
Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M, (1995). Correlation between fragment size at D4F104S1 and age of onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 4(5):951-958.
Lyle R Wright TJ Clark LN Hewitt JE (1995). The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics 28:389-97.
Matthews KD, Mills KA, Bailey HL, Schelper RL, Murray JC. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve (1995) Suppl 2:S98-102.
Matthews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RI, Smith R, (1995). phenotypi and pathologic evaluation of the myd mouse. A candidate for facioscapulohumeral dystrophy. J Neuropath Exp Neur (1995 Jul) 54(4):601-06.
Mills KA, Mathews KD, Scherpbier-Heddema T, Schelper RL, Schmalzel R, Bailey HL, Nadeau JH, Buetow KH, Murray JC. Genetic mapping near the my dlocus on mouse chromosome 8. Mamm Genome (1995) Suppl 2:S73-80.
Padberg GW, Brouwer OF, de Keizer RJ, Dijkman G, Wijmenga C, Grote JJ, Frants RR, (1995). On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve Suppl 2:S73-80.
Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA, (1995). Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve Suppl 2:S81-4.
Tawil R Meyers, GJ Weiffenbach B, Griffs RC. (1995). Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. Arch Neurol (1995 Nov) 52(11):1069-72.
Upadhyaya M, Osborn M, Maynard J, Altherr M, Ikeda J, Harper PS, (1995). Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. Am J Med Genet (1995 Jun 19) 60(3):244-51.
Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P, (1995). Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve Suppl 2:S45-9.
van Deutekom JC, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR, (1995). Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl 2:S19-26.
Wijmenga C, Dauwerse HG, Padberg GW, Meyer N, Murray JC, Mills K, van Ommen GB, Hofker MH, Frants RR, (1995). Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35. Muscle Nerve Suppl 2:S14-8.
Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira
A, Wijmenga C, Padberg G, Frants R, (1995 Jan). High proportion
of new mutations and possible anticipation in Brazilian facioscapulohumeral
muscular dystrophy families. Am J Hum Genet 56(1):99-105.
1996
Bakker E, Van Der Weilen MJR, Voorhoeve E., Ippel PF, Padberg GW, Frants RR, Wijmenga C, (1996). Diagnostic, predictive and prenatal testing for facioscapulohumeral muscular dystrophy; diagnostic approach for sporadic and familial cases. J Med GEnet (1996) 33:29-35.
Coelho PC, Morgado F, Reis P, de Queiroz MV. Facioscapulohumeral dystrophy with myositis associated with rheumatoid arthritis. Clin Rheumatol 1996 Mar:15(2):185-8.
Deidda G, Cacurri S, Piazzo N, Felicetti L, (1996). Direct detection of 4q35 rearrangements implicated in facioscapulohnumeral muscular dystrophy (FSHD). J Med Genet (1996) 33:361-65.
Ichikawa Y, Yamada H, Motoyoshi Y, Shimizu T, Kawai M. (Abnormal head drooping in facioscapulohumeral muscular dystrophy) Rinsho Shinkeigaku 1996 Mar:36(3):503-6.
Kaneko K, Ohnishi Y, Atsumi T, Hozumi I, Miyatake T. On the heterogeneity of neurogenic facioscapulohumeral muscular atrophy (letter; comment) Muscle Nerve 1996 Apr;19(4):533-3.
Kohler J. Rupilius B, Otto M, Bathke K, Koch MC. Germline mosicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occuring predominatntly in oogenesis. Hum Genet 1996 Oct;98(4):485-90.
Nakagawa N, Higuchi I, Yoshidome H, Isashiki Y, Ohkubo R, Kaseda S, Iwaki H, Fukunaga H, Osame M. Familial facioscapulohumeral muscular dystrophy; phenotypic diversity and genetic abnormality. Acta Neurol Scand 1996 Feb-Mar;93(2-3):189-92.
Song MD, Arahata K. (Gene hunting of facioscapulohumeral muscular dystrophy) No To Shinkei 1996 Apr;48(4):307-13.
Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D, FSH-DY Group, (1996). Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol (1996) 39:448-452.
Tupler R, Beradinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L, (1996). Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet (1996):366-73.
Ueyama H, Kumamoto T, Mita S, Kimura E, Nakagawa M, Uchino M, Ando M. Facioscapulohumeral muscular dystrophy with chromosome 9p deletion. Neurology (1996 Feb) 46(2):566-9.
van Deutekom JCT, Lemmers RJLF, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet (1996 May) 5(5):581-591.
van Deutekom JCT, Bakker E, Lemmers RJLF, van der Wielen MJR, Bik E, Hofker MH, Padberg GW, Frants RR. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26; implications for genetic counseling and etiology of FSHD1. Hum Mol Genet (1996 December) 5(12).
Winokur ST, Bengtsson U, Vargas JC, Wasmuth JJ, Altherr MR. The
evolutionary distribution and structural organization of the homeobox-containing
repeat D4Z4 indicates a functional role for the ancestral copy
in the FSHD region. Hum Mol Genet (1996) 5(10):1567-75.
FSH Society Groups Welcome New Members and Offer New Resources
Infantile
Facioscapulohumeral
(IFSHD) National Network
The IFSHD (Infantile Facioscapulohumeral and early onset) National Network has continued to thrive as we welcome additional families to our group. Accessibility to the Internet has allowed us the opportunity to reach out across the continents spreading word of our existence. We welcome yet another international family from Austria.
One of our goals in forming this Network is to address your desire for information. The recent publication of the patient brochure for FSHD is a concerted effort by the FSH Society to respond to these needs. We will continue to gather experiences and respond with articles on living with FSHD.
We have formed a pen pal network for our children. Anyone interested may contact Carol Perez or me for the name, age, and address of those involved. Please let us know if you would be interested in receiving correspondence.
The opportunity to contribute and assist one another is realized in sharing common experiences, challenges and compassion. We provide strength through our communications. Therefore, we would like to develop a resource list of those families willing to exchange information about IFSHD and early onset. Shortly, you will receive a questionnaire to identify families who wish to be on our IFSHD resource list.
Once again, I would like to thank those who have offered support and acceptance of the IFSHD network. The IFSHD and early onset Network welcomes your comments, questions and involvement.
Mary Redick, Coordinator,
IFSHD Network,
W11149 County Road M,
River Falls, WI 54022,
Phone: 715/426-9986
The FSHD Support Groups offer the unique opportunity to meet others and share information and support on FSHD issues. We currently offer the following support groups: Michigan FSHD Support Group, Mid Atlantic FSHD Support Group, New England FSHD Support Group, South Central Pennsylvania FSH Support Group, Tri State (New York Area) FSHD Support Group
Meetings* are generally held every other month on Sunday afternoons covering topics specific to FSHD. The groups are fortunate to have leading researchers and clinicians present the current genetic and clinical information. Experts address nutrition, exercise and coping strategies for FSHD. Individuals, family members and professionals concerned with FSHD are welcome to attend.
Videotapes of selected meetings from the Mid Atlantic FSHD Support Group and New England FSHD Support Group are available on loan ($3 postage charge per tape). Tapes currently available include presentations on physical therapy, occupational therapy, massage therapy and a discussion with a physician. Contact Carol Perez, East Cost Office of the FSH Society for further details.
We are grateful to Mary Grady, Karen Johnsen and Robert Smith for making these materials available.
Please call Carol Perez, FSH Society Director, East Coast Office, (617) 860-0501, with any questions or interest in forming a local group, telephone network or pen pal group. In order to preserve confidentiality, the FSH Society will contact members and inform them of groups in their areas. We have requests to form groups in: Phoenix, AZ, San Diego, CA, San Francisco, CA, Los Angeles, CA, Denver, CO, Palm Beach, FL, New Orleans, LA, Duluth, MN, Kansas City, MO, St. Louis, MO, Rochester, NY.
Information about support groups and networks is published in the FSH Watch.
*Groups meet in accessible locations.
Introducing Our Michigan Group
I'm James Partridge. I'm 30 years old and work as an attorney for a large law firm in Detroit, Michigan. More importantly, I am a newlywed. (This June, I married my law school sweetheart.) I was diagnosed with FSHD nearly 15 years ago, but up until I got engaged, I lived in blissful ignorance about the causes and effects of FSHD. Granted, every day, I was reminded of my physical limitations, but I tried to ignore my disability anyway. You might say I was in a state of denial. As soon as I proposed to Karen, that all changed.
Before the wedding, my wife and I were discussing having children and I did not even know the odds of passing FSHD to my children. A little ashamed, I contacted MDA, who told me about Carol Perez and the FSH Society. Carol and I hit it off right away, and she helped me learn more about FSHD. More importantly, she introduced me to Linda.
I admit, I was scared to meet Linda. Despite having lived with FSHD for 15 years, I had never met another soul with the disease. I had no idea what to expect when I met Linda. Would she be less affected than me? Would it be like getting a look into the future? What was I getting myself into, I wondered. Well, as it turned out, I had nothing to worry about. Linda and I were so overwhelmed to meet someone who could understand what it was like to live with FSHD that we talked for well over an hour. Finally, I had to leave to go back to work.
After our first lunch together, Linda and I realized that there are probably a lot of people in this area who have had experiences similar to ours. Conversations I have had with some of you tell me this is true. That is why we put the Michigan FSH Support Group together to meet others who are concerned with FSHD. We would love to have you join us to share information and experiences, or to just sit and listen.
-James Partridge, JPartri920@aol. com
I'm Linda Shain Vanek, a 50-something social worker, now working as a consultant in the area of human services administration in Ann Arbor, Michigan. I have two wonderful daughters who live in the Boston area, and an aging poodle who lives with me in Ann Arbor. So now you know all the essentials!
Oh yes, I have FSHD. Actually I was diagnosed in 1975 with polymyositis, and only recently found out that my diagnosis was dystrophy. In this past year I have gathered together a new medical support system, and discovered the wonderful resources of the FSH Society. That is why I am excited about the prospect of meeting others interested in FSHD. Just knowing James has been a real delight-we have shared information, ideas, and lots of laughs. It would be great to expand the network.
Perhaps the idea of a "support group" makes you feel somewhat uncomfortable. Maybe you wonder if it will offer anything new or helpful to you or your family. Our hope is that you will try it and that you will come meet us and see for yourself.
-Linda Shain Vanek, ShainL@aol.com
I'm Kristi Myers and I'd like to tell you a little about myself, and about the second meeting of the FSHD Michigan Support Group, which was held on September 8, 1996.
I am a 38-year-old trainer/consultant for a large information technical organization. FSHD was diagnosed in my family about 20 years ago when my sister wanted to get her ears pierced. Before the ear piercing, she had to have plastic surgery on a soft spot of skin on her ear. During the pre-admission tests, however, the doctors discovered an elevated CPK level. This eventually led to the diagnosis of FSHD. Once the diagnosis was made, the rest of the family was tested. My sister is the most affected and my brother shows very few, if any, symptoms. I have some symptoms, such as not being able to whistle and my smile is a bit crooked.
As our family tried to learn more about FSHD, we found very little information. Many of the doctors we talked to had never heard of FSHD. So, over the years and the miles (we live in different states now) my sister and I have continued to share the limited information we have been able to find. It was my sister who introduced me to the FSH Society and newsletter, which has been very exciting for me.
I don't dwell on the fact that I have FSHD. And, in most cases, I don't tell people that I have this disease, because in the past, people have treated me differently when they knew. So it was difficult for me to contact the Michigan Chapter of the FSHD group, but I'm glad I did. It's great to find others who not only know what FSHD is, but who understand and share my concerns.
As I said, the second meeting of the Michigan chapter was held on September 8, 1996. The meeting was small and informal. This allowed for plenty of time for us to share experiences and ask questions of each other. It's a very relaxed atmosphere and a great chance to share information. If you think this may be beneficial to you or you'd like to meet others with FSHD, please join us.
-Kristi Myers
Michigan FSH Support Group
James Partridge and Linda Shain Vanek
Mid Atlantic FSH Support Group
Karen Johnsen
12203 Foxhill Lane
Bowie, MD 20715
301/262-0701
Meeting dates:
New England FSH Support Group
Carol A. Perez
Lexington, MA 02420
617/860-0501
Note: The FSH Society National Network Conference will be held
on Sunday, April 13, 1997, in Waltham, MA at the DoubleTree Inn.
South Central Pennsylvania FSH Support Group
Ranae Beeker
Hanover, PA
717/632-4803
Call Ranae Beeker for meeting date and location. The South Central
Pennsylvania FSH Support Group welcomes your participation.
Tri State (New York) FSH Support Group
Marilyn Meisel
Fresh Meadows, New York
718/357-5079
Call Marilyn Meisel for 1997 meeting dates and location. The Tri
State (New York Area) FSH Support Group members come from New
York, New Jersey and Connecticut and meet in Queens, New York.
Marilyn Meisel established this group in 1994. The Tri-State group
meets every other month. Shari Fallet, M.D., Long Island Jewish
Hospital, met with the group on September 29, 1996, to discuss
advances in genetic testing and genetics in FSHD.
FSHD Local Networks
Colorado:
Kansas and Oklahoma:
Tennessee:
International FSH Group Updates
As of this edition, the FSH Society has links to FSH Groups in
England, France and the Netherlands. Their coordinators and updates
on activities are listed below. The French and Dutch coordinators
are fluent in English.
Belgium:
Update: The Belgian group represents all neuromuscular disorders
and meets annually. Their publications are in French.
Canada:
Update: The S.M.D.I. International Newsletter and Access-Able
Information are published quarterly. The newsletter provides an
international forum for disorder/disability information, news
and opinion relevant to the field of neuromuscular disorders.
England:
Update: 1996 meeting was held in Oxford in October.
France
Update: Dr. Claude Diaz, Association Francaise Contre Les Myopathies
(AFM), has completed the report on the survey of more than 200
individuals with FSHD in France. The abstract of this study is
listed in the researcher's section of this issue.
Netherlands
Update: The Netherlands FSHD working group of the VSN meets annually
and publishes four newsletters per year. The National Contact
Day was on September 14, 1996. The FSHD Newsletter Number 15 November
1996 reports on the discussions. Excerpts from their newsletter
are published on page 8 of the FSH Watch. Dr. Oscar Vogels discussed
a proposed trial of beta 2 antagonists (salbutamol) with 30 participants
in 1997. Dr. George Padberg responded to questions about pain
and reports that his group is completing a survey on pain and
FSHD.
World Wide Web/Internet Update
FSH Society Internet Address: http://disability.ucdavis.edu
There is a high level of activity on the home page for the FSH Society's web site which is maintained by our friends and colleagues at the University of California, Davis, Division of Physical Medicine and Rehabilitation. Ted Abresch, Director, quality of life and community integration program, Research and Training Center for Neuromuscular Diseases, UC Davis, reports on the Society's web server for the month of October 1996, in this newsletter. Currently, the web site contains information submitted by both the FSH Society and the Research Training Center that is germane to disabilities of all types, including muscular dystrophy.
To access the web page, you must connect to the World Wide Web. Most major service providers, i.e., Compuserve, America Online, Prodigy, etc., currently provide this access. Once connected, there are several web browsers (software programs) such as Netscape, Mosaic, or Microsoft's Internet Explorer that allow you to locate the addresses of the thousands of home pages now available. Whatever software you use, our home page address is: http//disability.ucdavis.edu
Once you have reached the web page, you will find the FSH Watch and the newsletter from UC Davis Research Training Center. Also, by clicking the appropriate link on the web page, you can transfer to the bulletin board service, (bbs). At this location, you can post messages to or read messages from the FSH Society bulletin board.
There will be a topical data base, which will include published scientific articles so that you can search the data base for a subject such as "exercise" and retrieve all the information on this subject that is in the data base. This project takes many months and will grow over time.
Finally, please submit questions that you have for the scientific advisory board via the bbs. Frequently asked questions will be answered on a monthly basis and posted to the bbs and published in the FSH Watch.
-William R. Lewis, III, M.D.
, Cardiologist, Cardiovascular
Medicine,
School of Medicine, University of California,
Davis,
is an FSH Society board member
and member of the Scientific Advisory
Board
of the FSH Society.
Web server statistics for FSH Society and the UC Davis Research & Training Center for Neuromuscular Diseases.
During October, 1996, the use of our web site increased by 34 percent, with an average of 354 requests per day. The use of the web has increased 10-fold over the past six months. In addition, the web site was instrumental in bringing new members to the FSH Society. We hope to improve both the information content and the use of the web in the near future. Editor's Note: As we go to press, there are no more than 1,000 logins daily on the FSH Society Bulletin Board.
-Ted Abresch, Director, Quality of life and community integration
program, Research and Training Center for Neuromuscular Diseases,
University of California, Davis
Your East Coast Office went West! I had the most extraordinary and energizing experience at the Del Mar 1996 FSH Society Patient Conference. Meeting with networkers from 13 states, clinicians, researchers and people I have been writing to and talking with since 1989 was delightful. Your evaluations of the conference underlines the importance and value of our FSHD network and mission. You most enjoyed the chance to talk with others living with FSHD and we learned that this was not a "patient" conference. It was a network and support system conference. You were impressed by the upbeat attitude and resilience of participants.
With 1997, we enter the year with new challenges and we will meet the expectations. How satisfying it is to know that the International FSHD Scientific Symposium (equated to the Olympics for FSHD), is a reality because of the diligence, foresight, persistence and vision of the FSH Society President, Daniel Perez, and his dedicated Board members.
The new challenge is to build a fund to support and further research solutions to FSHD. The Society's Fundraising Chairman, Richard Lefebvre, requests your action by your soliciting your family and friends for donations to the Society. Those of you who have companies that match contributions should ask consideration of the FSH Society for matching funds (membership contributions). You who have United Way programs at work can request that the FSH Society be listed as a participating charity. The East Coast Office has provided the necessary paperwork to corporations and we do meet the requirements to participate successfully.
Join us in Waltham (Boston), Massachusetts, on April 13, 1997, to meet with your fellow FSH Society Network members from all over for presentations and discussions specific to FSHD.
-Carol
A. Perez, M.Ed., C.R.C
I wish to express a debt of gratitude to Dr. Paul Schultz, one of our founding board members and chairperson of the Scientific Advisory Board. Dr. Schultz is an active member of the board, always willing to volunteer his time to help in the causes of the Society. He has provided important, measured and reasoned advice in several issues that have recently confronted our organization. Under his direction, we experienced outstanding success with the FSH Society Patient Conference in Del Mar this last November. Thank you, Dr. Schultz.
As I reflect on 1996 and previous years, the FSH Society has placed a positive mark on the FSHD landscape. It is a contributing member in the mix of organizations and professionals involved in the work toward the cause of and treatment for FSHD. Through its network of professionals, an informational brochure and newsletters, it assumes a role of the major provider of information about FSHD. It has established an interactive network resulting in the increase in FSHD support groups, the recent FSH Society Patient Conference, and a resource on the Internet. As 1997 unfolds, the FSH Society will be the sponsoring organization of an international scientific and clinical symposium for FSHD in Boston. I thank all of you who are sustaining members and donors. Your contributions have made a real difference for many.
I encourage each reader to assess the significance of the FSHD research summary by Dr. Altherr. It points out the fascinating, complicated and frustrating nature of the FSHD molecular studies. It is a sobering caution against notions that the molecular nature and consequent therapeutic solutions for FSHD are simple, but a sustaining hope that excellent researchers are making significant progress.
The FSH Society can expand its contribution in this area as much as its members and supportive organizations choose to participate. Such organizations will not seek out the Society, but many will respond when the Society takes the message to them. I hope that readers with an interest in FSHD research and treatment will reject the passive assumptions that their own involvement is useless or that others can better shoulder the work. Thus far, the success of the efforts of a handful of individuals is notable. The untapped ability and resources of thousands who are directly influenced by this disease could make an important impact on the programs of researchers and clinicians who will eventually solve the FSHD problem.
The West Coast Office is here in 1997 to hear your questions and requests for the present, and to welcome your own commitments to hasten future solutions through research and therapy. The new telephone number for the West Coast office is 619/632-5411 and my e-mail addresses are sjjacobsen@compuserv.com or sjjacobsen@worldnet.att.net. My best wishes to each of you in this coming year.
-Stephen
J. Jacobsen, Ph.D
Charitable Air Medical Transport System in Place
Multiple sources of charitable air medical transportation are now available to almost anybody in the United States. There is no guarantee that every need will be met, but there are dedicated people working to help meet every need.
There are two national charitable programs that should be known by every medical organization, every health care worker and every family with a rare disorder patient. These are:
1) The National Patient Air Transport Hotline (NPATH) 1-800-296-1217. This unique hotline makes referrals to all known appropriate charitable, charitably assisted and special patient discount commercial service based on an evaluation of the patient's medical condition, type of transport required and departure/destination locations. Patient referrals are made to over 45 different sources of air medical transport help.
2) The "special lift" air medical transport program operated in conjunction with the NPATH Hotline. Sponsors of large-scale disease research or experimental treatment programs can take advantage of this program which will manage and coordinate the air medical transportation aspect of the special project-arranging to move large numbers of patients to and from special research or treatment facilities one at a time, as required-via charitable means-nationwide.
At the present time, a "Child-Lift 1" program is serving a special double-blind drug testing program for Congenital Lactic Acidosis. A "Child Lift 2" program is transporting patients with Sturge-Weber Syndrome. Both of these programs are serving the Clinical Research Center of the University of Florida. A third very large nationwide "special-lift" program is currently being negotiated.
Both of these charitable air medical transport programs are operated by Mercy Medical Airlift (MMA), a non-profit charity specializing in developing, assisting and coordinating charitable public benefit air medical transport programs.
The Hotline can be reached on 1-800-296-1217. To discuss possible future "special lift" programs call MMA at 1-800-296-1191. MMA offices are in Manassas, Virginia but its services are nationwide. MMA operated the above described programs in support of the Air Care Alliance and works in full cooperation with and supports all known public benefit volunteer flying organizations, airline patient and other related patient air medical transport programs.
NPATH is now present on the world wide web on www.npath.org.
-Edward R. Boyer, President, Mercy Medical Airlift
Members
As of September 30, 1996, we welcome the following new members. Their names are printed with their permission.
Bob Beckley-Michigan
Virginia Burcher-New York
William Dorfer-Connecticut
Dr. David T. Lokerson-Maryland
Mr. Stanley Mandel-Florida
Mr. Richard Morris-Florida
Dabney Richey-Texas
Quang Truong-New York
Ellen Zurbin-New York
Contributors
Ms. Elizabeth Coar-New Jersey
Mrs. Joseph D. Cotler-New York
Isabel M. Jeffares-Georgia
Pitney Bowes Matching Gifts Program-Connecticut
In Honor of Justin Zachary Cohen:
Mr. & Mrs. Stuart Cohen-New York
In Honor of the Anniversary of Harriet and Stuart Cohen:
Mr. & Mrs. Jay T. Kaplan-New York
In Honor of Frank J. Fitzmaurice:
Mr. G. P. Moynihan-California
In Honor of the Anniversary of Robert and Ellen Gutenstein:
Mark and Maureen Criscitello-New Jersey
Mrs. Joan Sherman-New York
In Honor of Richard A. Lefebrve:
Ms. Nancy Brine Fredrickson-Massachusetts
In Memory of Dr. Gino Passamonti:
Mr. Daniel P. Perez, Massachusetts
In Honor of Jessi Pease:
Mrs. Arthur Sennott-Massachusetts
In Honor of Jessica Ryley:
Car King Auto Care Center, Inc.-Ohio
Mrs. Martin Doto-New York
James F. Ryley, Jr.-Pennsylvania
David D. Smith-Ohio
Speedy Muffler King, Inc., Midas Muffler Shop-Ohio
In Honor of Kaleb Bates Wolcott:
Julie Wolcott-Vermont
Nan Wolcott-New York
In Memory of Dr. Joseph Wolf:
Mr. and Mrs. William H. Luttmann-New Jersey
Mr. and Mrs. Charles C. Perez-Massachusetts
Corporate Membership
Rehab Seating Systems, Inc. (RSS), Brookline, MA, manufactures
and markets the Power Commode/Lift™ and the patented Hi-Seat
Seating System™ product lines. The Power Commode/Lift product
line consists of three variations on the basic design which can
be used as a bedside commode, over-the-toilet commode, or lift
system in institutions or the home. The Hi-Seat Seating System
product line consists of chairs and transporters with adjustable
25-inch high seats which are used in the home, hospitals, rehab
centers, and nursing homes.
Thank You!
The FSH Society wishes to acknowledge the following for their contributions to our efforts.
Tribute to Richard A. Lefebvre On His Retirement from Quorum Health
Resources
With special thanks to the generosity of Donald E. Strange who honored Mr. Lefebvre and matched all contributions to the FSH Society by the following:
Maine
Paul Barrette
Sue Butts
Richard Cunningham
Ray Davis
Edward Miles
Maryland
James Agnew
Francis Kirley
Massachusetts
David Ackerman
John Albert
Paul W. Allison
Dr. Mehbooba Anwar
Gerard Baker
Gerald Barbini
Ben Beres
Charles Bernasconi
Mr & Mrs. Bilodeau
Michael D. Blaszyk
Bob Bois
Marie Bortone
Bernie Bussell
Christine Calvey
Mr &
Mrs. Clark
Deborah Chapman
Ben Colonero
Denis
Conroy
Thomas E. Cummings
Douglas Danner, Esq.
Bill Diggins
Ralph DiPisa
Mr & Mrs. DiRoberto
Mike Donahue
Jeff Doran
Edward "Ted"
Dudley
Dana Fennelly
Mr & Mrs. Fredrickson
Maureen Banks Gould
Robert Griffin
Mark Gronberg
William C. Harvey
Nancy Herlin
Robert Hersey
Phil Hopkins
Robert Ingala
Elizabeth Jordan
Richard Jost
David Kaloupek
Mr. & Mrs.
Edward Kittredge
Mr. & Mrs. William Kluber
Mr.
& Mrs. Alan Knight
Mrs. Kompel
Asher Kramer
Doris Krensky
Stanely Krygowski
Mr. &
Mrs. Kenneth R. Lafleche
Amy Lefebvre
Dick &
Linda Lefebvre
Mrs. Lorraine Lefebvre
Mr. &
Mrs. LaMontagne
Mary Lou Leppert
David MacIntosh
Joseph Maher, Esq.
Emilie Malboeuf
Marriott
Health Care Systems
Sharon McCann
Douglas McGreggor
Denise Norris
Madeline O'Reilly
Daniel
Perez
Chris Peterson
Maureen Pompeo
Kristin
Reilly
Mark Rich
Steve Robbins
George Robinson,
Esq.
Mr & Mrs. Thomas Sager
Florence Schumacher
Mr. & Mrs. Elliot Schwartz
Roger Simpson
Doris Sinkevich
Tony Slabecheski
Beatrice E. Soltys
Joseph Strand
Neil Stroman
Michael Sullivan
Mary Sweeney
Grace Tucker
Mr. & Mrs.
Jim Tzamos
John Valorz
Robert E. Vigneault
Stephen
Weiner, J.D.
Frank Wesolowski
Donna Williams
John F. Youngclaus
Ellen Zane
Steve Zuromski
New Hampshire
Steve Gordon
Mr. & Mrs. Gary Marlow
Frank Niro
Jeffrey Schaub
William Schuler
Thomas Sheehan
Mr. & Mrs. David Speltz
New York
Robert G. Dwyer
Arnie Katz, c/o Kurron
Corbett
Price c/o Kurron
North Carolina
Richard L. Shedden
Ohio
Janet DeWeese
Michael D. Kitchen
Pennsylvania
Arebi Garsaa
Thomas D. Robinson
George J. Starosta
Rhode Island
David M. Balsofiore
Carey Cobb
Edward Cummins
Nancy Lancaster
Tennessee
W. Roger Borchers
James E. Dalton, Jr.
David Dempsey
James J. Free
Pat Glaser
Steve Hough
Robert D. Huseby
Marlin Markham
Margaret Mazzone,
Esq.
Quorum Health Resources
John Shea
John
Smalley
S. Douglas Smith
Mr. & Mrs. Ron Trace
Texas
Donald E. Strange
Vermont
Paul Bengtson
Susan Havers
Peter Hostetter
William Stowe
Virginia
William H. Bryant
Beverly D. White
Wyoming
George Brisson