Laughing it Off, One Dust Bunny at a Time: A Family Full of Rare and Genetic Mystery

January 22, 2016

In our house, we often don’t have the energy or ability to tackle the daily tasks that make us look like a responsible and disciplined family. The dust bunnies have moved out from under the couches and are now demanding their own rooms. The children are spending their winter vacation sculpting the laundry piles into a replica of Mt. Rushmore. We’ve had bagels for so many meals that the head of the Thomas company sent us a Christmas bonus.

We are, admittedly, oozing through life most days. We make up for it in other ways though. Most importantly, we laugh at ourselves a lot.
When you are a single mother to 2 teenagers and all of you have health disorders, there is sometimes not much else you can do. Between the 3 of us, we have 9 separate chronic conditions. Four of them qualify as rare diagnoses, and since they are genetic, we share them.
How does this happen in one family? The answer is one of the mysteries of the universe.
My ex-husband and I met in high school and got married as soon as we graduated from college. He had always been healthy and the only problems I had were tachycardia and fibromyalgia, diagnosed when I was a teenager. Not unheard of, but certainly early. Our daughter came along shortly after, and despite some mild neurological issues and quirkiness, she was a healthy little girl with blond hair and blue eyes and the sweetest Cindy Lou Who face you could imagine. I was exhausted, and slept constantly, but I was a new mom. It was to be expected, right? Then our son came along. Born with severe, complex clubfeet, much of his baby and toddler years would be spent in treatment. He had some hypotonia for his first 6 months or so and along with some other slight signs of a genetic disorder his pediatrician sent us for a genetic consultation. This was the beginning of our quest for answers.
We lived in Cincinnati at the time, 2 miles from one of the best Children’s hospitals in the world. After some initial visits with a well-known specialist there, we were all diagnosed with Ehlers Danlos Syndrome. My daughter’s symptoms were more vascular while my son and I had more problems with. frequent injuries and chronic pain. Both of them had enlarged aortas and pulmonary arteries. In addition, my son was sick constantly. By the time he was 4 he’d had viral meningitis, pneumonia multiples times, scarlet fever, and a variety of other illnesses that sent us to the ER in the middle of the night. Our daughter, who had been through years of OT & PT, was somewhere on the mild side of the autism spectrum. As for me, my pain levels had skyrocketed since having my babies. My joints ached but tests showed no arthritis. My muscles hurt, my skin hurt, and despite the rolling eyes from doctors, some days it felt like even my bones hurt. I was still constantly sleepy but chalked it up to all our stress and to the Ehlers Danlos. As our stress increased, and my marriage became rocky, my sleep began to be even more disturbed, filled with terrifying visions and episodes of paralysis.

We left Cincinnati when the children were in early elementary school and moved to Maine. It was harder to find the specialists we needed. However, it gave us some great doctors with fresh eyes. After multiple sleep studies, I was finally diagnosed with narcolepsy.

We saw an allergist next, who after more testing, found out my son had Selective IgM Immunodeficiency, and all of us had a sensitivity to salicylates. Unlike a regular allergy, salicylates from foods build up in our bodies much like a toxin. Though the Ehlers Danlos caused pain anyway, this was a secondary cause of pain. On days I am not careful about my diet, I am left with migraines, sinus headaches, facial flushing, digestive problems, and random severe shooting pains throughout my body that feel like a bad case of the flu.

Continued genetic testing revealed my children also inherited FTAAD (Familial Thoracic Aortic Aneurysm & Dissection Disorder) along with their father. It is the same disorder that the actor John Ritter had and can cause aneurysms throughout the whole body.

The FTAAD was found on the MYH11 gene and was a brand new mutation. Only 1% of those with FTAAD have it on the MYH11 gene in the first place. My son’s Selective IgM Deficiency is found in .03% of the population. For both of these disorders, we don’t fully know what to expect and the specialists can’t tell us. The Ehlers Danlos, while considered rare, is becoming more common as awareness grows.

I have given up worrying excessively about it all. We will still dislocate knees getting up from the floor. We will still have marathon sleep sessions. We will still tease that this headache might be the big one. We have learned to laugh through it all. We joke that we don’t really have disabilities. Our genetic mutations are simply the process of developing superpowers. It’s exhausting work really. Our beds are unmade and we are eating popcorn for dinner tonight, but who cares? Our capes are flying high!

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