What is a diagnosis worth? For my family, learning that our daughter, Amy, has the ultra-rare disorder xeroderma pigmentosum/ trichothiodystrophy (XP/TTD) complex after two decades of searching, the value is incalculable. For an insurance company, there is a definite amount — and in 2015 that amount was $9,500.
What does this have to do with genetic counseling? It turns out, quite a lot. This is our story of how an amazing genetic counselor, Margaret Au, not only guided us through hearing some of the worst news our family ever received, but also how she helped us handle the unforeseen repercussions of one epic financial battle.
Our daughter has been a medical mystery since she was 3 years old when she began experiencing migraines. That first symptom was followed by many others, from cataracts to kidney stones. Her diagnoses ranged from congenital hypomyelination to osteomesopyknosis. Doctors were sure she had “some syndrome,” but nobody knew which one.
Medical testing for someone with an undiagnosed rare disorder can only be described as an odyssey. For Amy, it became an unmerry-go-round of unexpected diagnoses, followed by more testing, leading to still more unusual diagnoses. There were never any treatments; none of it made any positive difference for her life. It was just an endless, exhausting cycle. When she was 15 years old, we simply stepped off the ride.
We continued to meet her medical needs as they arose but stopped looking for answers. And for a long time, things were okay. She was stable. She had time to develop and grow away from the microscope of medical diagnostics. That changed nine years later, when Amy was 24 years old. One day, lightly hopping from one foot to the other, Amy suffered a spiral fracture of the femur. Her bone, which prior tests had told us was unusual but not concerning, had completely given out. We were terrified there would be more breaks. We returned to the testing world and found that there was a new tool for diagnosing medical mysteries — whole exome sequencing.
Genetic testing means genetic counseling, and while Margaret Au may have the title of genetic counselor, she quickly became our champion. When our daughter’s results came back, Margaret explained to us the novel errors in Amy’s genes as well as the working diagnosis. The prognosis is not good. There are no treatments. Margaret helped us to digest all of this information. Despite our endless calls and emails, Margaret made us feel that talking to our family was the most important thing she had to do.
Margaret skillfully guided us to world-renowned experts. She made connections for us with the National Institutes of Health. Though there is no cure for XP/TTD, with Margaret’s help we were accepted into a research study that will hopefully lead to one. We learned how to keep our daughter safe from further trauma. And for the very first time, we met other families with similar diagnoses. Instead of isolation, we were suddenly part of a community. In the midst of the most difficult of circumstances, we felt supported and secure.
Then that unexpected bill arrived. Our insurance denied our claim, saying there weren’t enough cases to prove genetic testing was medically necessary — a neat trick because simply based on incidence, the ultra-rare patient can never win. We were still reeling from learning our daughter had a progressive, life-threatening disease. Now, we were $9,500 in debt to a powerful, unfeeling insurance company. We called Margaret in desperation.
Our mild-mannered counselor turned into a superhero. She researched similar cases. She drafted letters. And, when we were denied, she pushed deeper into research and wrote more letters, all to support our claim. With every denial, Margaret helped us fight harder. Two long years later, on our very last available appeal, her hard work quite literally paid off. We became that unusual case where an insurance company reversed its irreversible decision. Our bill was paid, and we could focus on our daughter.
When we were referred to a genetic counselor, I anticipated meeting someone knowledgeable and emotionally supportive. I did not expect a warrior who would become our champion. For our family, and for all of her patients, genetic counselor Margaret Au is priceless.