Google The Unplanned Homeschooler: April 2022

Wednesday, April 13, 2022

Gilbert Gottfried, Myotonic Dystrophy and the Unplanned Homeschooler

Gilbert Gottfried, well-known comedian and actor with the unmistakable voice, died from complications of myotonic dystrophy type 2. According to his publicist, his death was caused by ventricular tachycardia, an arrhythmia associated with myotonic dystrophy. This rare disease, which affects only about 1 in 10,000 people, is a form of muscular dystrophy which, according to the Myotonic Dystrophy Foundation causes a host of "varied and complex symptoms, including skeletal muscle problems, excessive daytime sleepiness, early cataracts and heart, breathing, digestive, hormonal, speech, swallowing, diabetic, immune, vision, and cognitive difficulties." 

This week may be the first time you've heard of myotonic dystrophy. To my knowledge, no other celebrity or well-known person has been diagnosed with the disease. Because it is so rare, you may never even meet anyone who has it. But I know it well, because my husband and at least two of our three kids are afflicted. 

I first learned about myotonic dystrophy a few years ago, when my husband's brother called to let him know he had been diagnosed. My husband had been showing symptoms for some time, too, but we didn't know what was going on. Both of my husband's parents died relatively young, but we're pretty sure that the disease came from his mother, who had mobility issues and a lot of other health problems in the decade before she passed. 

My kids tested positive

Around this same time my older daughter was going through a barrage of medical tests, because of pain, fatigue, hypermobility and a myriad of other symptoms she had been dealing with practically since birth. She had already been diagnosed with Ehlers Danlos syndrome, a connective tissue disorder, but that didn't explain all her symptoms, so we were traveling the state visiting specialists in genetics, neurology, rheumatology, cardiology and more. I mentioned to the geneticist that her uncle had tested positive for myotonic dystrophy, so they ran another test looking specifically for the mutation. Just before she turned 18, my daughter was officially diagnosed with the same disease.

The geneticist suggested we test my son, even though he did not have all the same symptoms as his twin sister. We knew that because myotonic dystrophy is caused by what is called an autosomal dominant mutation, there was a 50 percent chance of him having the disease, too, but we were hopeful. A week later his test came back positive, too.

My youngest has not yet been tested, as the geneticist insists it is better to wait until she is close to 18 and can decide for herself if she wants to know. But she and her brother were both also diagnosed with Ehlers Danlos syndrome, so it is impossible to tell if her pain and fatigue are due to that or if she is also showing early signs of myotonic dystrophy. She, too, has a 50 percent chance of having myotonic dystrophy so it is just a matter of waiting to see how the test turns out. 

There is no treatment for this disease. There is no cure. It is a chronic disease that slowly robs you of your mobility and puts you at high risk for many other complications, some of which can be life threatening and many of which contribute to daily pain. There is some new hope in the form of CRISPR gene editing trials which have shown some promise with similar disease, at least in mice. 

Homeschooling with myotonic dystrophy

My twins are 20 now, and are finishing their first year as full-time college students. They've been living with their diagnoses for a couple of years. It hasn't been easy. Myotonic dystrophy wuld be tricky enough on its own, but combining a muscular disorder with a hypermobile connective tissue disorder in the form of Ehlers Danlos syndrome is just awful. Faulty muscles and faulty joints combine to cause tremendous pain and require enormous energy. 

Living with this pair of rare diseases means looking at life differently. As we wrapped up the twins' final year of high school, we worked closely with the Disability Services office on the university campus to make sure they were able to succeed in their concurrent classes. We spent a considerable amount of time considering potential majors and what sort of careers they could maintain long term, even if they are in a wheelchair full time well before retirement age. 

My twins can't party like average college students. They've been warned not to drink alcohol or even consume energy drinks because elevated liver enzymes can be a problem with myotonic dystophy. They've had to be extra careful during the pandemic because their disease can cause respiratory and cardiac complications. And they have to work extra hard to maintain good grades because they are on scholarships, they both intend to pursue graduate school and if they blow their academic standing they would have an extremely hard time finding work they could physically do while trying to finish school.

I may not be homeschooling my twins anymore, but supporting them through college is still important. They decided to stay home and attend the local state university because the campus is smaller and easier to navigate, and because they would not have to live in the dorms. Parking is still an issue sometimes, though, especially when the weather is bad, and their schedules don't always match up so I spend a lot of time helping one or both of them get to class. 

Looking to the future

The cardiac complication that Gilbert Gottfried died from can often be addressed with a pacemaker. It is recommended that people with mytonic dystrophy get evaluated regularly for complications with their hearts. They also have to stay on top of other health issues. Young adults can be resistant to making their own appointments and taking care of their medical needs, but the only way to live a full life with myotonic dystrophy is to be very proactive in your care. I am working to encourage this with my twins, and even with their dad. 

I am scared of what the future holds for my kids, but I am oddly encouraged by the life of Gilbert Gottfried. His career evolved as he got older, and presumably lost a lot of his strength and mobility. He pivoted to more voice work and less stand up, but he lived his whole life as an entertainer, doing what he loved in one way or another. 

I am still doing everything I can to help all three of my kids open doors to opportunities to pursue what they love. Their paths may be limited due to their disabilities, but there are always ways to find what you want and need in life if you stay open to the possibilities.