My Daughter's Rare Disease Is a Superpower

We’ve just returned from parents evening. Another stark reminder that our child is falling behind. That she is constantly having to play catch up both academically and socially, as well as learn to live with the ups and downs of her rare genetic condition. She is so proud to be that 1 in 1 million. She never complains, she never asks why, she never doubts herself. She is the beacon of light at the end of the tunnel of misdiagnosis, medical appointments, cancelled appointments, miscommunications, medical reports, healthcare plans, Googling of this rare disease (just like the doctor does), hospital visits, hospital stays, learning to use new equipment — the list goes on. But she’s there, and she’s rocking this life she has, and she inspires us every day.

But the reality often is that her life is hard. She can’t do what other children her age can. She can’t manage a full day at school. She can’t function without her hearing aids. She can’t dress herself safely. She will go to a wheelchair clinic next week. She accomplishes so much just getting to school and learning. Some days she can’t even access the toilet. She’s behind her peers at school, she’s not reaching this goal or that goal. Her reading isn’t where it should be. Her attendance isn’t good enough. She’s missing out on making relationships. But every day that she is able and well enough, she’s there. She has her specialist shoes put on, and she goes into her classroom and she’s there. She’s present, she’s learning, she’s living.

It can be heartbreaking to see that this alone isn’t recognized as an achievement for her — because it really is. She has her pain medication before she goes in, she’s just about recovered from the sheer exhaustion of yesterday’s morning at school. She’s not strong enough yet to do a full day, but we are hopeful that she will get there. And when we hear in the playground that there’s yet another birthday party happening at the weekend, and she isn’t invited again, we squeeze her a little tighter so that she knows just how incredible she is. Rare disease is an underrated, misunderstood superpower.