My journey continues

by Ian Rys, Port St. John, Florida

When I turned 50, I began to feel I was moving and walking differently. I won’t lie: That scared me. 

I’ve always tried to have a positive outlook, but FSHD was starting to break me. I have great support from family and friends, but I needed something more. I didn’t know what it was. One thing was for sure – I needed to know where others afflicted with this disease were getting their medical care and information. 

Then last year I decided to go to the FSHD Connect Conference in Las Vegas. There, I discovered what I had been hoping to find. Not only did I meet others like me for the first time, but I was also among patients and doctors from around the world gathered to hear and tell of all the latest findings on FSHD.

I learned of different therapies being developed and got information on trials and studies. I also learned that one of the best ways I could contribute was to participate in the research. I’m all in!

After the conference, I called Dr. Rabi Tawil’s office at the University of Rochester in upstate New York and was guided through the process of becoming his patient. My son Josh, a nurse anesthetist, CRNA, accompanied me on my visit. I was so excited!

Dr. Tawil was gracious, kind, and respectful. We went through quite a bit of range-of-motion and strength testing, far more than I ever had before. Next, we talked about why I was there, various trials, and what I hoped to accomplish. The best news came when Dr. Tawil told me I would be a very good candidate for the trials we had discussed. We talked about my battle so far and how to be proactive in my fight. 

By the time I left, I had also met with another neurologist, Dr. Phillip Mongiovi; Katy Eichinger, a physical therapist who gave me a prescription for an ankle-foot brace; and a representative from the local Muscular Dystrophy Association. I couldn’t believe all of this took place on my very first visit!

Now I have a plan. I will be genetically tested and then, toward the end of this year, I will be eligible for the trial I’m interested in. Dr. Tawil is now my FSHD doctor as well! I’ll be heading back to see him in six months.

I’m happy to say I’m no longer scared. In fact, I feel as if I’m back on the winning side. I’m not naïve. I know there is no “cure” that will restore me to my physical condition prior to the FSHD progression, but I’m doing all I can to help myself be the strongest I can be.

I will conduct my journey with grace and gratitude, and I will continue sharing my experiences in the hope of helping others. We are all in this together, and we are all worthy of the best medical treatment available.

Before leaving the University of Rochester, I got a bit emotional as I thanked Dr. Tawil for taking me on as a patient. He said, “It’s not a privilege to have this disease.” That was when I told him I agree, but it is a privilege to be treated by him. 

I am forever grateful for my rock star doctor!


4 responses to “My journey continues”

  1. I met Dr Tawil in March when I, two cousins and a sister went to Rochester to participate in two studies being conduced there. Your description of him is very accurate and many of those traits, as well as compassion is found in the staff there as well. I, too, am on an FSHD journey and share your outlook. I live in Canada and unfortunately may not be able to have Dr Tawil as my doctor but am grateful I will have the opportunity to participate in the ReSolve study that will allow me to see him three more times over the next year and a half. I have found structured exercises to be very beneficial in slowing the muscular degeneration and over the past six years have improved my overall balance and strength to where reaching overhead is easier. I have even been able to participate in 5K runs. Because of this progress and the benefits of exercising, I started a Facebook group called “Moving with FSHD” where patients and caregivers can share exercises and ways to maintain an active lifestyle despite this disease. I welcome you, or anyone affected that is reading this, to search for the group and join. We may not yet have a cure but together we can cope.

  2. I never got a prescription for a foot brace. Instead I bought my first pair on Amazon then later I got a pair on ebay. I found that the $250 ones don’t work any better than the $30 ones. Thanks for sharing your personal experience.

  3. Thank you for sharing your story. When you talk about “…being proactive in your fight”, what action are you taking that you find beneficial?

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