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Fri, Feb 15 9:00am · One of a Kind-When Your Child has a Condition with No Name - Experts by Experience

Today, I’m spending the day with my daughter, Tess. She’s nine years old.

Since Tess’s birth, my wife and I have drastically redefined our lives. We have simplified our working lives in order to make room for medical appointments, sessions with specialists, and educational meetings. We’ve connected with a group of diehard friends and relatives—people who we can call at any time, night or day, to ask for help. We’ve slowed our lives down to make days like today, possible.

You see, Tess has an ultra-rare disease. It is so rare that it doesn’t have a name! We simply call it USP7, after the gene that shows the mutation. Because of that mutation, she’s non-verbal, she has autism, epilepsy, vision issues, gastroenterological problems, and intellectual disability–even though she is nine years old, she functions at the level of a toddler.

It is dark and not quite 5 a.m. when we hear Tess calling to us from her bed. I go to her room and unzip the safety enclosure that fits over her mattress. Without it, she wouldn’t be safe—she puts everything in her mouth, whether it’s food or not. As a result, even her own room can endanger her. I pull her out, hug her tightly, and whisper, “Good morning.” Excited to start the day, she hugs me back.

At breakfast, she uses a speech device to talk. Over and over again she repeats, “Eat. Oatmeal.” I spoon it into her mouth–food is one of her favorite things. In recent weeks she has started requesting other things–she has navigated to the button that indicates she needs to use the bathroom, she has said the word “up” and meant it. Such gains in communication have been slow and taken years of speech therapy. But we are thrilled!

Later, I take her to an indoor pool, where it’s warm and no one else is there. She loves the water–actually, her favorite place to be is underwater. I used to have to hold her for the entire swim, but these days she fights me like crazy–she pushes my hands away, dunks her head, and cannot wait to swim on her own. After ten minutes, she becomes still and quiet. Her face takes on a greenish tint, and I get her out of the water just in time for her to spit up a cup of pool water. She is getting better about closing her mouth and not swallowing water during her weekly swimming lessons, but she still has a lot to learn.

Our days have not always been as peaceful as today. It took years to get here. In the beginning, before she was diagnosed, we were so worried about losing Tess. We bounced from one medical appointment to another, in a healthcare system that isn’t built to deal with USP7. My wife was made to feel like she was a “crazy doctor-mom”. One pediatrician even dismissed us, saying Tess’s eyes were fine, although we knew she could not see. Only later did we learn how right we were–Tess has cortical visual impairment, so her eyes have trouble telling her brain what she sees.

Tess has also had some wonderful doctors. When we look at the best care she has received, there are two principles that stand out:

  • Do not try to take our star-shaped child and fit her into the space meant for a circle. Instead, try to think about ways that would set her up for success.
  • As her parents, we’ve spent time learning about her rare condition, so we are the experts on USP7–when we have questions, when we are concerned, please listen to us.

Tess is restless in the afternoon–I can tell she wants something, but I cannot figure out what it is she wants. Despite her progress with the speech device there are times when we don’t know what she is trying to say. She’s tired now, but does not want to sleep. She climbs into my lap, and with my cheek against her neck, I hum low notes into her ear. I’ve spent the whole day talking to her—narrating our activities, asking her questions, saying her name. Aside from some joyful yelling in the pool, she has remained silent. But this, the low vibrations of my humming, triggers a response from her. She lets out a tiny murmur, her shoulders relax, she leans against me, and melts in my arms. When I stop humming, she grabs my elbow–her way of saying, “Do that again.”

Experts by Experience is a collaboration between Inspire and Mayo Clinic Connect, online support communities for patients and caregivers. By sharing their stories, patients and caregivers awaken, inform, and strengthen the capacity to partner in their care. The stories also help clinicians and non-medical professionals in health care implement patient-informed practices in their interactions and communications, by uncovering opportunities for quality improvement. The series showcases the value of shared experiences and features contributors from around the globe.

About the author:

Bo Bigelow lives in Maine with his wife and two children. He is Chairman of the Foundation for USP7 Related Diseases. He is also a co-founder of DISORDER: The Rare Disease Film Festival, and hosts the weekly podcast, Stronger Every Day. You can find him on Twitter at @bobigelow.

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