2018 FSHD Connect Conference

Informative and life changing

by Ian Rys, Port St. John, Florida

As a first-timer, I was very excited to attend the 2018 FSHD Connect Conference held in Las Vegas, Nevada, this year.

As we boarded the plane for Las Vegas I noticed something I wasn’t expecting quite so soon—I was feeling waves of emotion that just got bigger with each nearing mile, but I had to stay cool!

This was easy, as our plane kept getting delayed, and my thoughts of meeting another FSHer for the first time kept my mind busy.

When we finally arrived in Vegas, we checked in and got settled. The next day as we approached the El Dorado conference room I saw others. Others like me!!! We entered and made our way through the powered chairs and scooters to a table. That ride through the room, with others in chairs and scooters, was awesome! It was almost as if we were a “gang” of sorts, and we were the majority. 

We joined a table where we met Carol Chandler, her husband Franco, and her daughter Valerie. This was my first time meeting another person affected by FSHD. I embraced my emotions and was living in the moment from then on. This was great as I took it all in, but in retrospect I wish I had thought to take more photos with those in my tribe. But enough of that. On to the conference!

We were welcomed as the FSH Society’s top brass introduced themselves, gave a quick summary of what’s going on in today’s research, and what we could expect from the experts that joined us from around the world. FSH Society Board Chair Jim Chin, President and CEO Mark Stone,  and Chief Strategic Programs Officer June Kinoshita kicked things off, and their passion was contagious.

No time was wasted, as there was a lot to tell. The first day was very educational and scientific. At first, I was concerned that I wouldn’t understand the language being used, but I was surprised to find that the presenters did a great job in breaking it down for us all. There were only a few points that, no matter how hard I tried, I just couldn’t keep up, but that may have been my own excitement overwhelming me. There was so much wonderful information.

Alexandra Belayew, PhD, started off with an explanation of the role DUX4 plays in FSHD: how it operates, how it should operate, and what we know about it. Then Rabi Tawil, MD, from the University of Rochester spoke about genetic testing as well as answering some questions I’d always had regarding heart and respiratory involvement (view here). I also learned that we should exercise if we can and that scapula wiring does not work (bone grafting is the recommended method for stabilizing the scapula). I hope to meet with Dr. Tawil in August so I can get genetic testing and see about getting into the very promising Acceleron trial.

After the break, the presenters dove deeper into the therapies being developed to target muscle growth and regeneration, and how important it is for us patients to participate in these clinical trials. (Join the National Registry of Myotonic Dystrophy and FSHD Patients and Family members for information about research studies and how to participate.) This is history being made―and we are a part of it.

The afternoon continued with presenters covering their work on developing therapies. I also learned a bit about DUX4 and its behavior in relation to FSHD. This was all new and very exciting for me as a patient.

Many researchers from all over the world were gathered in this one room, at this moment, and they were sharing the very latest drug development research with us. I could tell that they live and breathe this work. It is their passion, and I believed it was transferred to us all in that room.

As the first day of the conference came to an end, I was hoping for some social “face time” with new friends. After dinner we got to do just that―finally meeting friends who had been acquaintances for years through FSH Today’s Facebook page. It was awesome!

Day two started with a great breakfast provided by the FSH Society. President and CEO Mark Stone addressed us all and shared his vision for the future. As I watched and listened to Mark speak, I was so proud that he is our fearless leader. He has such a warm personality, I felt as if he was talking directly to me.

On to the breakout sessions. I think this was my favorite part of the conference. I found my way to five different breakout groups and walked away from each one with something I will use in my daily life. It was during these sessions that I was able to listen to others talk about their experiences, their progression, concerns, and fears, and share mine as well.

Another highlight for me was getting a few minutes between sessions to introduce myself to the presenters and chat some more. I really enjoyed the way things were going when it came time for Nate Phipps from Harvard Medical School to show the latest in soft textile robotics. It was very interesting to see how this technology might be used in the future of assistive devices for FSHD. This was a genuine information gathering session for both Nate and us as patients, and I was honored to be in attendance.

The conference came to an end on a very high note for me.

I am a more informed patient. 

I feel I am a better reference for others seeking information. 

I now have information to advocate for myself. 

For the first time, I learned about my disease from people I trust. 

FSHD has taught me many lessons over the years. I have learned gratitude and compassion. I have learned to accept myself and that FSHers are all people who share common human interests. We all want to get through life with hope for a treatment or even, dare I say, a cure.

We are all unique not only in our personal battles with FSHD but as human beings trying to do the right thing for ourselves the best way we can so we can make the most of this beautiful life.

I highly recommend attending a conference or a Family Day or any other FSH Society gathering. The connections we made are priceless.

My wife and I agree that, not only was this conference informative, but it was life changing. Thirty-five years after my diagnosis, I met another person with FSHD.

I’d like to thank the FSH Society for making this event possible. I’d also like to thank all of the researchers and presenters who contributed as well.

Last but definitely not least, June Kinoshita. You are my hero! Without you, I don’t think I would have ever found my tribe.

Watch and read the slides and videos from 2018 FSHD Connect here.