by Dave Lukas, Lake In the Hills, Illinois
Three years ago, my life was changed forever. Three years ago, I walked out of a doctor’s office, got in my car and sobbed. Three years ago, my image of what my future looked like was shattered.
Today, my life is still changed forever. Today, I leave doctor’s offices feeling confident and grateful. Today, my image of my future looks uncertain, but there is so much hope.
Three years ago today, I was diagnosed with fascioscapulohumeral muscular dystrophy (FSHD). It took me a long time to remember how to pronounce it, spell it, and for my phone to figure out it wasn’t misspelled. It’s a rare form of muscular dystrophy I was born with, a genetic disease. My body produces a protein called DUX4 and this protein destroys and kills muscle. And like all forms of muscular dystrophy, it’s a progressive disease. I will keep losing more muscles, and will not get them back. There is no cure.
But it’s not like the muscular dystrophy you know from the Jerry Lewis telethons. FSHD is a much sneakier disease. Most of us get diagnosed in our mid- to late 20s after years of having something just a bit “off” about our bodies that no one seems to be able to explain. Most doctors are mystified.
It’s a slow disease that gradually robs people of muscles in their face, shoulders, upper body, and legs. It takes away things like being able to reach up and wash your hair, being able to get dishes down from the top shelf, the ability to smile, and other activities most people take for granted. It’s a disease people learn to live with by making a series of adjustments to do the random everyday stuff. For many of us, it progresses to legs and feet and begins to weaken and kill the muscles there. About a quarter of people with FSHD end up in wheelchairs.
Fun stuff.
But those are the facts. Thankfully they aren’t my reality now, but they are for so many of my friends and others with our disease.
With hindsight, I see that my journey started in my mid 20s, when I noticed I couldn’t raise my arms completely over my head. Fast forward 16 years and my wife (fiancé at the time) kept saying my shoulders just weren’t right. The way I took my shirt off wasn’t right. The way I reached for things up high wasn’t right. So I saw a local orthopedic doctor and he saw the oddities and thankfully paused long enough to say, “this isn’t right, I know a doctor you should go see, she’s a friend of mine and she might know what this is.”
Enter Dr. Charulatha Nagar, a neurologist at Northwestern Medicine. Even typing her name makes me cry with gratitude for this woman. She is simply the best doctor I have ever come across. Even my wife, who knows doctors, agrees with me. She saw me, took a look at me, asked me to do a bunch of random stuff (walk on my heels, push my hand away, purse my lips, to name a few) and then sent me for more blood work than I thought was even possible. Even the tech was surprised at the sheer volume of tests Dr. Nagar wanted to run and went to grab extra vials. About a million needle and finger pricks later, Brandi and I walked out still unsure what was going on, but confident in Dr. Nagar.
A few weeks later, we had a return visit to go over the results of these tests. That was today, three years ago. She informed me that my muscle protein levels were eight times higher than normal—meaning my muscles were screaming out that they were in trauma. That combined with my physical examination, Dr. Nagar informed me I had facioscapulohumeral muscular dystrophy. She needed to confirm with a genetic test, but she had studied and worked with patients with FSHD in medical school, so she knew the disease well and was confident I had it. A later genetic test would confirm my diagnosis.
I really don’t remember what else we talked about in her office, but I remember walking out to the car with Brandi and feeling overwhelmed with uncertainty. We got back into my car and I started sobbing! What was my life going to look like now? How soon would I lose all the muscle in my body? Would I die early? What if I couldn’t see my kids grow up? What if I became a burden on my future wife? She had already lost one husband to a rare disease. Why does she have to care for another? How was that fair?
Those and many more questions swirled and bounced in my head for what seemed like months. I really struggled to identify as someone who had a disease that would affect me for the rest of my life. I struggled with telling people. I didn’t want people to treat me differently. I didn’t want people to look at me like I was sick or broken. I kept my diagnosis hidden from everyone except family and close friends.
Which is where everyone else came in somewhere along the path. They either heard my diagnosis from me or heard it from my parents or read about a random post here on Facebook. But not from me directly. And that’s not fair. I truly struggled with telling people and struggled to wear the identity as someone who has muscular dystrophy. It was a journey to get to the point I’m at today.
Fast forward three years and where am I? I’ve already participated in one clinical research study and I’m about to start another. I immediately became involved in the biggest and most influential charity and research non-profit for my disease, the FSH Society. And now I’m taking steps to formally establish a national chapter through the Society here in the Chicagoland.
I have a team of doctors and medical professionals I trust 100 percent and it brings tears of gratitude just to think of them. Which then evokes more tears cause I’m one of the lucky ones who didn’t have to go through 20 doctors to figure out what I had. I can’t tell you the number of stories I’ve read about people with FSHD who have gone through doctors upon doctors and they still don’t have a doctor who knows how to treat them. I don’t have the words to express my gratitude for people like Dr. Nagar. Hence all the grateful, grateful, grateful tears.
There is hope on the horizon for a cure, as well as treatments to stop the progression of the disease. We know what causes the disease, which is a huge step. There are so many teams all over the world that are working on cures right now. And with the FSH Society leading the way with both their awareness efforts and advancing of research grants, I’m confident we’re going to get there.
The Society has a goal of having a disease-modifying drug on the market by 2025 and is confident this is achievable! To think that my world was rocked in 2015 and ten years later we could have a cure or progression stopper for my disease…holy #%&!
This disease has taught me to be grateful for the little things. There are so many things I’m still able to do (like run) that so many others with FSHD cannot. There may come a point in my life when I can’t do those things anymore. So I do them while I can to the best of my ability.
This isn’t a quick story and it’s one I’ve needed to tell for some time. It’s important because while this disease doesn’t define me, it’s a part of me and my story.
Hard challenges are put in front of us all the time and we have the choice to look at them as obstacles or fuel to propel you further on your path. My FSHD diagnosis laid me low for a while. It left me on the side of the road beat up and broken. But I stood up, dusted myself off, wiped away the tears, and used this diagnosis and this disease as fuel to make me a better person. This disease won’t break me. I’m stronger than FSHD.
Three years later, I find myself with a greater sense of power and purpose with FSHD. I may not know what lies ahead for me, but all I have to do is look to my wife and my three children to remember who else I’m fighting for. All I have to do is connect and reach out to all the friends I’ve met who have FSHD to remember the collective strength we have.
Going from powerless to powerful has been quite the journey. I’m not broken, I’m not helpless.
I am humbled, honored and encouraged.
I AM stronger than FSHD.
Thank you so much for your inspiring story! Your story is powerful and yet so relatable to those with FSH. I was just diagnosed with FSHD and though I am much older than you (62 years old) your story brought a message of hope. My symptoms manifested many years before this but it wasn’t til I met Dr. Erin Manning, a neurologist from the Hospital for Special Surgery In NYC that FSDH was confirmed. I feel tremendous gratitude for her insight and attention to the details of my symptoms. Like your appreciation of Dr.Nagar, I feel honored to have a doctor like Dr. Manning.
This journey has just started for me, yet in retrospect I’ve been traveling on this road for a long time.
I will be attending an MDA clinic in a few weeks and will meet many doctors and therapists to guide me through this. Today was the first day that I acquired enough courage to look for info on the FSH society website. I’m glad I did! I wish you continued strength for your journey, which you already have because YOU ARE stronger than FSHD.
Thank you,
Marie Nolan
I’m 56 years old and I to have FSHD , I was diagnosed with this strain about 30 years ago.
Dr John Ravits was my doctor at the university of Washington I’m Seattle and a few years later did a DNA test and truly confirmed. I cannot run anymore can still walk but getting harder. I don’t want to give up! I’m happy to hear there could be a cure in 2025
Take care , Bill Harvey , LYNDEN Wash.
Yesterday I watch my son who also has the diagnosis walk to his car, and my heart breaks. He is becoming more affected and I feel like it’s happening before my eyes. This cure is not coming fast enough. I know as a mother I am very sad to watch my twin sons who are 24 deteriorate. I seriously would take them to another country if I could get the cure faster.
I am 29 and I have FSHD, I was diagnosed with this when I was 8. My face is dead, I am on wheelchair, but I noticed recently that work out in the gym give amazing results. 3 months magnetic bike – legs muscles are slowly rise from the dead. I am still not walking, but I have progress 1-2% for month. 3 months ago I couldnt stand without my elbows and forearms on some surface. One month ago I standed with little catch with my fingers. (All in corset, because I have so big lordosis that I cant take a breath standing without corset). Today I will check if I have another little progress. Take care.
This is great to know! We believe exercise can reawaken muscles that have atrophied from disuse. Keep it up! Also consider working with a physical therapist of muscle activation specialist who might be able to target exercises to muscles that are still healthy but weak from not being exercised.
After knowing your story it make me overwhelmed to think that can It be possible in my case too. Coz I am suffering with FSHD from 2004 which is diagnosed in 2015 and almost loose hope of my life. My upper body muscles are now in a bit level and my legs limits my mobility last 3 years.Wish Allah (SWT) bless me to share my story like u!!!!
Tanks a lot for sharing your inspiring story.I overwhelmed to think that if my story could be like yours one? I am 35 and diagnosed FSHD in 2015 and suffering with it at the age of 22. My upper body muscles are infected at d beginning and last 3 years my legs are limits my mobility though m not yet using wheelchair.Do d miracle happened on me , do I ever be stronger than FSHD..can I be alive to get treated on 2025!!! Wish Allah (SWT) give me that strength to wait for cure!!!
Thanks for this inspiring story. My mother has FSHD, and was diagnosed about 45 years ago when she was having trouble with balance and climbing stairs. She also has Myasthenia Gravis, which affected her facial muscles for a period of time, but somehow that disorder has been somewhat milder. She is remarkable in her journey , as she is now 92 years old! She had been faithfully using a macrobiotic diet, which she considered to help in keeping the progress of the disorder to a minimum. My father had been taking care of her until his death a year ago, and now she is in assisted living, using a motorized wheelchair. Her core muscles have weakened considerably in the past year, and she tries to walk with a walker up the hallway once a day, with somebody following behind with the wheelchair. Each case is different — my nephew has also been diagnosed with FSHD in his late 20’s, and his progression seems more pronounced than my mother’s. Our family is hoping that the research and therapies for this disorder are developed very soon.
Very inspiring!! I am going to be 68 in May and was diagnosed with type 2 about 12 year ago. Recently had to start using rollator in house for balance to avoid falling. My disease has progressed since having to have cancer surgery last March, ultimately losing one kidney. Every day is a challenge, but have got to keep going forward.
This is so well written and encouraging–something this community really needs to hear. Besides that it is also sober and true. Thank you for sharing your story; I am continually praying for those working on a cure or treatment that will provide relief for those affected, which include myself, my 24 year old daughter and my sister as well. My father passed away in October of last year, but lived to be 85. He was a wonderful example to us of perseverance, endurance and hope. Thanks again.
So inspiring! I was treated in 2004 after an incorrect diagnosis. I was given cortisone and told to start exercises and swimming. Well the exercises prescribed were way above my ability as I couldn’t do much with my arms, let alone with weights. But I did start swimming. I persisted and soon enough I could swim a mile and I gained some mobility and strength back in my arms.
A few years later some other members of my family displayed similar signs and we’re correctly diagnosed with FSHD. Their outlook was terrifying. Doc’s told them to preserve energy and not to exercise. And never think about having kids. The impact of the diagnosis and being told not to exercise put them in a downward spiral. Their journey has not been the same as mine. They have gotten weaker and weaker and much more affected in daily life.
As a Physiotherapist, I can truly say, that how you received your diagnosis and what you do with it can dramatically alter the course of your life.
If you don’t use it, (your muscles) you will lose it. Keep moving, don’t give up! You’ve got this!!!!
Do something you love, do it consistently and you will real the rewards! We may do it differently to others, it may take us longer, and we may look a bit funny doing it, but achieving that goal of yours will give you the power back! You are stronger than FSHD!
Good morning,
I hade a sister with FSHD and I would love to find out more about your neurologist and network of physical therapists that you may be working with. She wants to continue to walk, but recently broke her femur.
Where is your sister located? We can send you information about neurologists and PTs whom patients have told us about.
Hi. Thank you for sharing your story, attitude and strength. They are inspiring. I recently learned that someone extremely close to me has been struggling in silence with his diagnosis for over a year. We live in NJ and are looking to find the best team of specialists to help manage his progression. Any suggestions are so greatly appreciated.