One July morning, my 1-year-old son’s motor skills broke down in a most unusual way. For several days, Robert had had momentary lapses in motor function—less than a minute at a time—then he’d been just fine, as though a videotape had been paused, then an invisible hand had hit “play.” Neither my husband nor I knew what to make of this—what exactly had we seen?
Robert seemed clumsy but strangely so. I planned to take him to the pediatric clinic—I figured, ear infection. While I got ready, Robert played with toys, taking them in and out of a basket. Then, a car dangling from his hand, the Robert I knew vanished. His body was seated, upright and still, but like a soft bag of flesh, not a body with bones. When I called his name he didn’t respond. With parted lips, the corners of his mouth rose eerily in a detached smile. The seconds ticked by while I stared, but his body never wavered—his only movement had been the smile.
Then his hand gripped the toy, and his muscles engaged again. As though nothing at all had happened. The only transition had been a slight straightening along his spine.
Robert crawled to the bed and drew himself up on its edge to stand. Then, completely alert, he spent several minutes moving from the bed to the floor, stopping to look at his hands, fingers and knees as though he had no idea what motion came next. Finally, ready to crawl, he set his forehead on his hands and cried.
I thought doctors would diagnosis this right away. Instead, everything became worse. Within a year, Robert had a g-tube, and his first wheelchair arrived in time for nursery school. He never spoke again. Something was clearly wrong, yet each medical test was returned negative or normal.
This trend continued for five years until bits of medical data began to emerge, stars we hoped to assemble into a constellation. For another eight years, we collected data and yet no recognizable connections could be drawn among those points.
How did we cope? What advice can I offer?
Our best asset was access to high-quality employer-based health insurance, but holding onto that proved difficult—we made employment choices based on that, not salary or job security. Many people have minimal health insurance or none at all. Year after year, I reminded myself how lucky we were.
Eventually, we had to turn to the ACA (Obama Care), which is expensive, yet for the time being, the best option for those uninsured. I advise selecting a high-premium/low out-of-pocket ACA plan. If you have high medical needs, the cost of the premium, deductible and out-of-pocket costs is generally the same across all plan levels. By paying a high premium upfront, you budget annual medical expenses, rather than dealing with big bills piecemeal. This approach also means less paperwork.
Your Story Matters
Building a network of support may be your most important task. Story may be the number one tool. I started a blog about my son during our diagnostic odyssey—connecting with others who commented—and reading other parent’s blogs, I built a network of information and human connections that eventually triggered a lead to diagnose Robert’s problems.
Your narrative matters, but mostly to your peers. Physicians need data, findings and numbers. Negative test results speak volumes to researchers, especially the parameters under which analyses were performed. Don’t discard negative lab results, imaging studies, genetic testing, biopsies, etc. Demand original lab copies, as summary results from physician offices don’t have the technical details researchers want.
Keep a binder with the most significant positive results in the first section. Then bundle other tests by type under separate tabs: MRIs, genetic tests, whatever’s relevant to your case. Add a handful of particularly compelling clinic notes at the end. Scan and upload an electronic copy to a cloud service. Keep a copy on a data stick for your bag. Update that binder regularly. Order copies of MRIs on disc immediately. The originals may be deleted from hospital records much sooner than you imagine.
Don’t be afraid of second opinions. You may like your physician, but he or she may run out of ideas. A responsible doctor will refer you to someone else. Don’t stay with those who say there’s nothing left to try or test.
Don’t be afraid of big university hospitals and research centers. Ask questions and learn how to differentiate medical students from residents from attendings, and what kind of information you can expect from each. More importantly, in specialists’ offices, get the names of the administrative assistant and nurse, and any residents that work with the Great One. Get the direct dial or email for these new friends. They will save your butt over and over, getting questions answered and paperwork completed. Be nice to them—always.
I’d prefer to live in a country in which Americans’ medical needs were met, in which no one had to crowdfund or even beg for treatments. Yet crowdfunding offers a chance to tell our stories and educate our neighbors, friends and strangers on where our safety nets fall short, how we cope. It offers us a chance to individualize treatments and to seek our own answers, rather than be told limitations must be placed on finding them.
I wanted to understand Robert’s medical condition more than anything. I figured even if new treatments didn’t materialize as a result of diagnosis, advances in medicine and science meant that our medical future is always just arriving, and who can tell what solutions lie just beyond the horizon? Robert’s disease was obviously rare, and only I could push for answers in a world in which he was an outlier.
Path to Crowdfunding
Our answer arrived in the form of whole exome sequencing—a technology that didn’t exist in 1998 when Robert became ill. I’d met Amy Clugston, head of Syndromes Without a Name, through blogging. One day, she emailed offering to introduce me to her friend Dr. C. Jimmy Lin, who was launching a nonprofit to help undiagnosed children find answers through genome sequencing. He needed pilot cases, Amy said. RGI connected us with a top-flight geneticist, a major lab that would cut its rates for sequencing and an electronic platform to crowdfund the $7,500 cost of sequencing.
Interviewed by the Baltimore Sun on behalf of RGI, I was asked how I’d raise that sum. I blurted out, “Well, my husband and I have about 700 friends on Facebook. If I can get 750 people to give $10 each, we’ll meet our goal.” The Sun story was picked up by wire services, and before I’d had a chance to approach friends, $10 donations from strangers had landed in Robert’s account.
We raised $1,000 from that newspaper article. Even then, I thought it would take months to raise the rest. I planned to post on Facebook, ask relatives directly, discreetly mention our campaign in holiday cards, and post a link on my own blog. But within 10 days of posting our campaign on Facebook, we’d raised all $7,500. The story was passed, friend to friend, reposted, and scattered far beyond our own circles.
Robert has Dystonia 16, a form of dystonia so rare, he was the 9th reported case in the world, the first in the United States. His defects are on gene PRKRA—the copy from me has the reported defect. My husband doesn’t carry one, but during gamete transcription, his RNA created a different error on PRKRA.
Robert’s diagnosis changed the way I see human difference. Many people think genetic illnesses happen to imperfect children and defective parents. But each time our DNA is copied, all three billion “letters” of it, RNA makes transcription errors—during gamete production, during the earliest stages of fetal development, and as we age. Our genomes are literally riddled with mistakes because the evolutionary purpose of DNA replication is to randomly create variation. We are biological equals, a single spelling error away from disaster in the genetic material that writes our humanity.