When you’re diagnosed with a rare disease as a child, you may go through the motions—the doctor’s appointments, the hospitals, the tests—but there comes a time when you realize your routine is, in fact, not normal. There’s something going on with your own body that you might not fully understand.
Hannah was diagnosed as an infant with a genetic disease called NF1 that causes tumors in the nervous system. Growing up, she did as she was told but never fully understood she had any real medical issues, especially because her community tended to be private about those concerns.
“Growing up in an Asian American community, talking about illnesses and diseases wasn’t that big,” Hannah said.
NF1 tumors develop in different places for different people. In Hannah’s case, she has a tumor in her neck area that causes pain. For reasons not yet fully understood, it often also causes birthmarks, which she has had since a baby.
“My parents only told me about the birthmarks and the things I saw on the skin,” she said, so she didn’t even realize NF1 was also a neurological disorder.
“Especially with neurological disorders, there’s something frowned upon, so it’s not really a topic of discussion. Any learning disabilities or mental disabilities, it’s not really talked about. They try to cover it up.”
When she was in middle school, Hannah started reading the pamphlets that the doctors were giving her family. For the first time, she was able to understand the vocabulary and better understand the full extent of her rare disease.
The pamphlets revealed to her that many children with NF1 have psycho-social problems as part of their development, which suddenly explained why she had dealt with social anxiety her whole life.
Hannah is now a young adult, taking over her own medical care. She has begun seeing an NF1 specialist who is working with her to see if there is any medication or clinical trials that could help relieve her symptoms.
One of the most difficult things for her as she navigates the uncharted waters of dealing with a rare disease is keeping all of her medical records in one place. As a child, she had to change medical facilities because of family moves and insurance changes. This caused scattered records and no continuity in her care.
That’s when she found AllStripes, a platform that helps rare disease patients digitally consolidate all of their medical records, while also contributing to drug research from home.
“AllStripes gives more autonomy to the patients to make their own decisions … It gives me more freedom and comfort knowing that I have all my records. If I were to move around because of different jobs, it would give me more comfort because I would have the medical records in one place.”
Hannah graduated from Bryn Mawr University in 2019 with a degree in psychology and hopes to be a doctor to better help children with rare diseases manage their psycho-social problems — something she wishes she’d had more of as a child.
“If I were a doctor, I would learn about each individual patient, especially if they had a rare disease so I could understand,” she said.
Her medical journey is far from over, and she doesn’t yet know what’s in store:
“Living with a rare disease is living in the unknown because you yourself don’t even know the full extent of your rare disease and how it can manifest.”
But this won’t stop Hannah from pushing forward in her goal to create a better world for rare disease patients in the future.
If you are a patient with a rare disease, or a caregiver of a child with a rare disease, and are interested in contributing to research from home learn more here.