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The 'Wait... What?' Moments When Parenting a Child With Muscular Dystrophy

“I believe your son has a condition called facioscapulohumeral muscular dystrophy (FSHD). A blood test is required to confirm it.”

With those words, my life’s focus would be forever changed.

These words were first spoken to me in the fall of 2011 when my son, Sam, was 6 years old. He was referred to a neurologist at the University of Arizona Medical Center after an orthodontist asked if Sam could raise his eyebrows. “Of course he can,” his father responded. As it turns out, he could not. Wait… what?

He was an active 6-year-old boy. Yeah, he got tired. Yeah, his smile was “odd.” And yes, his aunts and uncles thought he was a very serious child with little facial expression, but that was just Sam. He laughed, he played, he had loads of make-believe friends and could always be found wearing a costume. One minute he was a Teenage Mutant Ninja Turtle, jumping off the couch to apprehend the notorious Shredder. The next, Captain America, running around the house with a pot’s lid he would use as a makeshift shield. He was a bright, funny, active child.

When the test results confirmed the diagnosis of FSHD, we were referred to the Children’s Clinic at Tucson Medical Center. There, we met with the muscular dystrophy team for the first time, which consisted of a physical therapist, social worker, psychologist, nutritionist, education specialist, genetic counselor and neurologist. They asked questions, timed Sam running down the hall, asked him to get up off the floor without using his hands, and tested his push/pull strength.

When the neurologist finished her examination, Sam’s father and I had a barrage of questions. This is a genetic disease, yet there is no history in either of our families — how can this be? Where did it come from? And then the ultimate question — how is it treated? What medications will he be on and does he require some sort of surgery? The reply: There is no cure or treatment. It is a progressive disease, so his muscles will atrophy over time. Keep him active, but not too active. Wait… what?

No parent is prepared for a doctor to tell them their child’s health will continue to decline and there is absolutely nothing that can be done. When you take your child to the doctor, the expectation is the child will be healed. Treated. Cured.

Since those early years, I have learned a lot about FSHD and living with a disabled child, and more about navigating the murky waters of doctors, insurance, medical equipment and government agencies than I would wish on my worst enemy.

FSHD is a muscle disease that affects about one in 8,000 to one in 20,000 births worldwide. Its cause was attributed to the production of the DUX-4 protein which destroys muscle tissue/cells in 2010. Thanks to this discovery, several pharmaceutical companies are conducting clinical trials. However, every year that passes without a treatment, the bodies of those affected by FSHD are irreversibly damaged. The severity of the disease varies greatly among those affected. Some are less affected, while others, like Sam, are more severely affected. About 20% eventually end up relying on a wheelchair. Much of the literature on FSHD would lead you to believe that the disease is mild and minimally affects the patient’s quality of life. In most cases, this simply is not true — especially for those living with early-onset or infantile FSHD.

Sam is 15 years old now. He uses a wheelchair full time and has undergone three surgeries — two to lengthen/move tendons in his left foot and then a spinal fusion surgery where they placed rods in his spine to correct severe scoliosis. This last surgery relieved pressure from his heart and lungs, but it limited his mobility even further.

Throughout this nine-year journey, we have learned to fight many battles in this war for health and independence. If you are in this world of caring for a person with a disability, you know all too well the excessive costs associated with durable medical equipment (DME), the limitations of insurance when it comes to accessibility outside the home, and the frustrations in gaining access to life-altering devices.

Families like ours have asked these questions: How is it possible that the cost of necessary DME is so astronomically high? What is the mark-up on these items? Why doesn’t someone do something about these costs? Insurance agencies balk at approving required equipment because of the price tags. Our insurance has been billed $6,000 for a shower chair and $15,000 for a wheelchair — it is extremely costly.

Those of us in the rare disease community also know there is a huge gap between where insurance ends and independence begins. Insurance will pay for Sam’s wheelchair, but it will not cover a ramp so he can get out of his house in that wheelchair.

I am currently in the process of trying to get Sam a learner’s permit and driver’s license. It is quite a complicated and costly venture. After he passes the written portion of the test, I then have to take him to get an “assessment.” At $182 per hour, they will assess his ability to drive with adaptations. Then, at $135 per hour, they will teach him to drive using their adapted vehicle. Arizona requires a minimum of 30 hours of training. Once he passes the driving test, they will write a prescription for vehicle modification. The car to be modified must have less than 50k miles. Modifying the vehicle can cost between $20,000 – $80,000. To my knowledge, none of these costs are covered by insurance or any other agencies. Wait… What?

I know that not every 16-year-old has a license. I also know that not all young people own their own vehicles. But most teenagers can ride in the car with their friends, relatives etc. They can borrow a family car or jump on public transportation. They can hop into a car with a friend’s parent and go shopping, to the movies, out to eat, or to school and/or work. Sam cannot. My goal is to level the playing field for him and all those with FSHD and other disabling conditions. Despite these frustrations, I know there are thousands of people working toward these goals every day. So often the work of God’s hands is at the end of human arms.

Sam and I have had many, many wonderful people help us along the way. He has had dedicated, hard-working teachers, school staff, physical therapists, friends, and family and community members encourage and cheer him on along the way. We are eternally grateful to too many people to name. Chris Carrino, the voice of the Brooklyn Nets and an FSHD-affected individual gave some advice to fellow FSHD patients recently. He said that people will always help — your responsibility is to be the person that people would want to help. I thought that was excellent advice because it is so easy for one to get wrapped up in one’s own problems, causing bitterness and resentment to settle in.

The value of keeping a positive and optimistic outlook cannot be overstated. Sam has already lost a lot due to the progression of his disease. He has lost his ability to walk and play with his cousins. He watches teenagers his age play sports and run around the ball field. He has learned to adapt, and has a positive attitude despite the losses and challenges he faces.

We can defeat this disease. We can overcome any and all obstacles — Sam is a perfect example of that. By following Sam’s example, those with this disease can live an abundant, full life with the help and support of caring people. With the help of organizations like the FSHD Society and the Muscular Dystrophy Association, we will continue to shine the light of awareness on these diseases so we can find a cure.

Getty image by Ponomariova_Maria

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