Building our own community for an ultra-rare disease

Bo Bigelow shares the story of his daughter Tess, who has an ultra-rare genetic disorder with only 51 known cases in the world.

Our son Dana has always had a gift for capturing key moments. He does it with a single statement, made at just the right time. Once, he did this after we'd had a long day with our daughter Tess, who has an ultra-rare genetic disorder. The kind of day that's like an endurance event, with medical appointments, inconclusive test results, and scary unknowns. At day's end, Dana looked at my wife and said, "You got a tough heart.".

It's been a frequent saying in our house since then. He's been there for events that few 13-year-olds have witnessed. He watched Tess go into a full body cast, two different times, when her hips were so misaligned that she couldn't stand, let alone walk. He's seen Tess melt down, when her GI issues overwhelmed her and she couldn't communicate to tell us what she needed. And about a year ago, he watched my wife try to revive Tess, while she lay there on the carpet, unresponsive after her first seizure.

Tess is nine. In her first year of life, Dana was overjoyed to have a little sister. But she didn't act like other kids. She wasn't rolling over or crawling. She didn't talk. And something seemed awry with her vision, since she didn't appear to see us or respond much to us.

In time, her deficits became undeniable. We embarked on a dizzying succession of appointments. Many of these were with doctors I didn't even know existed, such as a developmental pediatrician. We spent full days at Boston Children's Hospital, often winding our way through multiple departments at a crack: metabolism, orthopedics, neurology, gastroenterology.

Sometimes doctors got us answers. I remember the day we learned why Tess didn't seem to see us, even when we were right before her eyes. It turns out she has cortical visual impairment. Her eyes function properly, but there's a disconnect between her eyes and her brain, when it comes to interpreting visual information.

Other times we had to get our own answers. Her gastroesophageal reflux disease improved slightly on a proton pump inhibitor, but her real gains did not come until we drastically changed her diet, subtracting grains, dairy, soy, and alliums. When we did that, not only did her GI symptoms clear up, she seemed to emerge. She began to connect with us and her surroundings, responding to our voices and even looking at us. Up to that point, we had had another saying in our household, reserved for those dark times in the car, when my wife and I were numb, driving back from Boston with no answers about how to reach Tess: "She's in there."

This is the piece of living with ultra-rare disease that threatens to break you: you are learning as you go, with no clear roadmap. With no diagnosis, no name for what she had, and no community of other patients with the same thing, we never had any idea what to expect from her. All we could do was put out fires as they arose.

Even as we worked on solving these individual problems for Tess, we kept wondering what was causing all of this. Why did she have so many issues, affecting so many different systems?

We took her to geneticists. They administered a battery of tests, checking for Rett Syndrome, Angelman Syndrome, and Prader-Willi Syndrome. Each was negative. In the end, they shrugged and said Tess was a mystery we might never solve. One of them told us she keeps a short handwritten list of unsolved patients in her pocket at work every day, and that she would add Tess's name to the list.

In time, her genetics team arranged for whole exome sequencing. We learned that she has a mutation in a gene called USP7. My wife and I asked all about the gene – what it does, how it affects her, and what treatments are available. The answer was the same for all three questions:  "We don't know."

We didn't get a diagnosis for her until she was five. That was when we finally learned that USP7 mutations cause a disease. It's so rare it has no name. She was only the eighth known case in the world.

Since then, my wife and I have started a nonprofit to get to a cure. We'll find the cure by funding research and finding more patients. We're up to 51 cases worldwide now.

We families connect with each other. We do this online and also in person at our annual family conference. We trade stories and treatment ideas. We share what's worked and what hasn't. Sure, none of us can walk into your average pediatrician's office and get a list of symptoms, but this – these Facebook threads and once-a-year powwows over coffee in a hotel lounge – is the closest thing to a roadmap that we have.

Even now that we know about USP7 and can connect with other parents, we still have unpleasant surprises. When other USP7 patient families told us of their ordeals with epilepsy, we listened, grim-faced, and declared that no, our Tess didn't have seizures. Until she proved us wrong last summer. Until we found her in her bed in the morning, pale and barely breathing, and had to resuscitate her while an ambulance roared up our driveway.

We are lucky to have a pair of researchers who are studying the disease. They've written two papers about it. In their work, they are optimistic about the gene and ways to attack this disease, even going so far as to call it "druggable”. They've given newly diagnosed families some idea of what to expect. More often, though, it's the other way around – we are telling the researchers what our disease looks like.

There's a wide range of how each child is affected by the disease. We met a boy last year at our conference who walks and talks and is attending high school. He does not want to identify with the disease, because his friends don't know that he has it, and he is largely able to pass as typical. Tess, on the other hand, is deeply affected by it. Her brand of USP7 means that she is cognitively years behind her peers, operating at the level of a toddler. She cannot follow most directions. She needs someone with her every second of every day, because she can be a danger to herself. She does not appear to know her own name.

The other day, my wife unearthed a cache of videos she had recorded on her phone in those early days. They're all from when we lived in the unknown, before Tess's diagnosis. In most of them, Dana's about five and Tess is two. In each one, Tess's disease is painfully apparent within seconds. In one, she is in a high chair and cannot find the pieces of food he's putting on the table for her. In another, she is frozen in place, unable to crawl to her brother, who waits on the floor, calling her name. In spite of these challenges, he never loses patience in those videos. He keeps calling to her. He sings her songs. He finds ways to make her laugh.

In the videos, he demonstrates over and over what it truly means to have a tough heart: to push Tess to do more, to wait with superhuman patience, and to never lose faith in her.

About the author

Bo Bigelow lives in Maine with his wife and two children. He has a blog and podcast called Stronger Every Day.

Patient Insights is a monthly series that appears in partnership with Inspire, a company with an online support community of more than 1.5 million patients and caregivers worldwide.