The problem was that Q93.5 was a dumping ground for hundreds of genetic disorders. The Q means that you have a birth disorder, caused by problems in your chromosomes. The 9 means that it’s not a condition that affects a specific organ system—say, nerves or gut. The 3 means that it’s not Down’s, Turner’s, or other well-known syndromes, and that the underlying genetic problem doesn’t affect either the X or Y chromosome. The 5 means that you’re missing part of a chromosome, but not parts that are covered by other codes.
That’s where Angelman sat—in a miscellaneous bucket, three times over, alongside very different disorders that it had nothing in common with, save that they didn’t quite fit anywhere else. “It was completely meaningless,” says Bichell. And it consigned Lou and others like him to a kind of medical anonymity. By contrast, the specific code for autism—F84.0—“opens a lot of doors,” says Bichell. “Children can have behavior therapy and all kinds of things that are reimbursable. But for Angelman syndrome, there was no code, so having that diagnosis didn’t automatically connect to potential treatments.”
That’s no longer the case. After a year of effort from Bichell and others, Angelman syndrome is getting its own specific code—Q93.51. That single extra digit at the end means everything. It’ll make it easier to understand the lives of people with the condition, to recruit them for clinical trials, and to develop better ways of caring for them.
Bichell was once a documentary filmmaker, and then a nurse and midwife. But when Lou was born and diagnosed, she shifted her focus to studying Angelman syndrome and developing treatments for it. She raised funds for research, earned a PhD in neuroscience, and became the director of an alliance that ensures clinical trials for new Angelman treatments are done rigorously and collaboratively.
Her foray into the esoteric world of medical codes had a morbid origin: “I worried about what my son would die from,” she says. “We heard lots of scary stories about kids drowning because they wander off and have a fascination with water. But there was no data.” Without medical codes to link Angelman syndrome with accidents, surgeries, hospital admissions, or anything else, Bichell was lost. She put together a Facebook page and collected stories from people who knew an Angelman patient who had died. “I collected over 200 cases,” she says. “But I couldn’t make any conclusions from that.”
Last spring, with help from Angelman experts, Bichell wrote an application to grant the disorder its own ICD code, and sent it to the National Committee on Vital and Health Statistics, which administers the codes in the U.S. She bolstered it with letters of support from universities, pediatrician associations, autism foundations, and pharmaceutical companies. Finally, in September, she appeared before the committee to make her case, along with Wen Hann Tan who studies Angelman at Boston Children’s Hospital, and Raquel Cabo from Ovid Therapeutics, which is developing treatments for the disorder. Two weeks ago, they got their code.