by Julie
When you are a child, you feel like you have all the time in the world. When you become a parent, you realize this isn’t true. Your own children grow up way too fast. And when your child has FSH muscular dystrophy, this is not only poignant, but heartbreaking, as Julie testified at the Voice of the Patient Forum. Her son Noah was diagnosed with the FSHD four years ago, at the age of 10.
Unable to keep up with his peers in sports, Noah gave up basketball and baseball. He joined the Boy Scouts and band, but his FSHD limits him. He was unable to pass the swim test or carry a heavy backpack for an overnight camping trip. His mouth weakness ruled out most of the band instruments, but he discovered a love for percussion. But as he enters high school, his mother knows joining the marching band will be challenging if not impossible.
“There are many limitations that Noah has, and FSHD impacts his life in so many ways,” said Julie. “As his mother, it is heartbreaking when classmates draw attention to the fact that he is unable to smile.”
“As parents, like all parents, every decision made is done with the intention of giving our children a better future,” she said. “Given the opportunity to find a cure for FSHD, we would do whatever it takes for our son…Any treatment that would stop the progression of the disease would benefit him so greatly. If we knew that the disease would no longer cause future muscle loss, then he could focus more on building up the weak muscles and strengthening what he does have.”
“Every year we’ve noticed progression of the disease. Noah is on a path to real medical and physical limitations,” she worried. “If a therapy is shown to be effective, implementing it as soon as possible can mean all the difference between reversible and irreversible changes.”
How would treatments to slow or stop FSHD change your life or the life of your loved one? Please share your thoughts in the Comments section.
This is an excerpt from testimony in the Voice of the Patient Report.
I would do anything to find some kind of cure for my Maison
It would be prayers answered and dreams come true to find a cure! To watch my husband with debilitating chronic pain daily , is the hardest thing to endure, all the while trying to remain positive . We have been blessed with several doctors, friends, and family all looking for the same outcome, finding resolution. My husband puts on persona of strength, the havoc this disease has caused is sometimes not comprehensible. It has robbed him of things we take for granted like showering without exertion, walking without a thought, breathing without even noticing and wondering how to complete your day at work. While that is not enough, what about the enjoyment and satisfaction of building and creating things, landscaping or simply mowing the grass? However, the determination, resilience , and hope he carries in his heart each day I am so thankful. The courage and fight he demonstrates on a daily basis for his family is heroic.
So well said.
You spoke for many of us with you description.
Thank you.
Stopping the progression of the FSHD would give me the hope of remaining in my own home and not having to go to a nursing home when I can’t take care of myself any longer. I am that point of the progression that I am barely able to take care of myself and my social life is pretty much confined to my home.
Hi Julie,
I too, started showing signs of problems with my ability to do the things my friends were doing at around 8 years of age. As a guide I will tell you I am now 76 years old. As a youngster I was back and forth to doctors from that early age until I was 23 years old and not one doctor could tell me what my problem was. I carried on with my life adapting the way I did things. I played soccer, squash, swimming and sailed my VJ in competitions on our local lake. Soccer, I had to settle for goalkeeper, but all these events I believe, made my body adaptable and able to cope with some of the strains I placed on it. At 24 I had met & married the most wonderful girl with the result being two wonderful children, a boy & girl who we are both so very proud of, resulting in grandchildren. The greatest accomplishment though is, NOT one of them, have this dreaded disease. Getting back to my progress, I went to work in a Zinc & Lead Smelter at the age of 32 and within 10 years had been promoted to the staff as a Plant Supervisor. After a few years I had experienced a larger than normal movement in the changes that befall us all, and which led to me doing a lot of falling. During a night shift as part of my duties I went up to Furnace Top to inspect the operation of the furnace feed system. Crossing the gantry I fell, if it hadn’t been for a 5 inch kick-plate along the walkway I would have tumbled 200ft to the concrete below. That sent me to my Doctor on my way home . He was a locum filling in and her said to me I think you need to see a specialist and got me in that day somehow. All this led to me finding out that I had FSHD and I was now 47 years old. I asked this doctor for a certificate to present to my works medical officer for me to have my next shift off as I had not had any sleep. His words to me really knocked me over, he said “My boy you will never ever work again.” With the start of 2021 in a weeks time, I will be 8 months short of 30 years since I have drawn a wage and my wife has stuck with me through thick and thin up until 8th October just past when she passed away with Cancer. I now reside in a Nursing home near my family.
I would not consent to living with either of my children they have their own lives to live and their own families to raise and they do not need me and my chronic pain in their lives as well. In saying all this Julie I would stress that you let your son find his own limits in life and work his way around them, he might surprise himself in what he can do, as well as surprise you. I wish you well, and I wish your son didn’t have this dreaded disease, but he has and he can still have a great life. From a man who has spent the last 25 years in a powered wheelchair and still had a great life. The end result has made my life worthwhile and I would do it all over again. A Cure will arrive one day I pray for all those suffering that it gets here soon.
As someone who was lucky enough not to be troubled too much by my FHSD until my early 60s I have seen a more rapid decline in my functions .Things I took for granted are now a painful chore requiring a different approach & often help from others .Walking,swimming,going out by myself are almost gone .A treatment would be a miracle for me but also for so many younger people who are finding their daily lives so hard.We all have to keep as strong as possible & hopeful.