Rare Disease Day: Show Your Stripes
Each year I try to set apart time to raise awareness for Rare Disease Day. This year it is on February 29, cuz that’s rare, and the National Organization for Rare Disorders, NORD, has asked professionals and families to show their stripes.
From NORD, “The zebra, with its distinctive stripes, is the official symbol of rare diseases in the United States. While each of the more than 7,000 rare diseases is unique, there are many commonalities that unite our community. To raise awareness around rare disease issues, NORD is promoting specific ways that individuals, organizations and groups can show their stripes in support of Rare Disease Day! “
National Organization for Rare Disorders, NORD
Our family has walked the striped journey for a years now. Although our daughter has always had Albrights Hereditary Osteodystrophy, AHO, we weren’t aware until she was around ten years old. We had thyroid and asthma issues on the front burner, so it took awhile before a specialist asked about the size of her hands. The ossifications on her. Her face shape. X-rays showed that she had bone fusion, and that her bones were measuring as someone who was seventeen.
At first we were told to monitor her calcium and phosphorus levels. We didn’t know other AHO kids her age were on hormones to combat the bone fusion and help the kids reach normal height. When she went to her well-check months later, the bone fusion was worse and we learned we were beyond the place of anything helping. She reached her final height just as she became a teenager. She’s 4’9″. The good news is we’re not a tall family at all, so around us, it’s not a big deal.
Now she’s in full teen mode and our specialist admits AHO is so rare that there isn’t a lot of research. We don’t know exactly what to expect from puberty. We’ve had to add a medicine because she is delayed in an area that if we don’t treat, there is a cancer risk. Yet I’m never comfortable adding meds to her already full cocktail.
We don’t know too much about her reproductive years. I’ve been asked to put her through extensive cognitive testing, as well as consider surgery for what another specialist said are harmess ossifications on her legs. There’s updates regarding oral health for AHO patients, and I often see calls for research patients through Vanderbilt.
It’s a weird place for us as a rare family because as a dear friend noted, there is nothing at first glance that would ever reveal we have a team of doctors,regular lab work, crazy medical bills, and requests for medical appointments that we have to discern is it really necessary or over concern/attempt for more money/using her as a guinea pig?
It’s a hard place because especially because she’s a teen, there’s insecurity that comes from this age just by being a teen. She’s overcome so much—no longer on an IEP, but on a 504. She’s in a regular classroom setting but often there’s an aide who assists when needed. She’s aware when she has to leave early for an appointment or comes in late because of lab work. None of us want to dwell and label her, yet the reality is as her parent I have to advocate on her behalf. There are things we go through other parents do not. Yet, there are things we don’t have to deal with daily that other rare parents do. That gives me guilt, because I know families with special needs where they have therapies, hospital stays, and so much more than we have.
All of it is draining. As my dear friend said, it seems like she’s too healthy to belong to the special needs community and yet not to be an active part of the healthy community. That’s exactly where we are.
So I identify with the stripes. There are days I feel we’re a family of zebras in a land of lions. But I praise God, I really do, for ALL He has done. Between what AHO states and mistakes made with her thyroid as a baby, we were told to prepare for mental retardation. That’s not the case. No, she’s not driving yet, but I think one day that might change. She is taking a college class at her high school. She has such a support system that extends way beyond home and doctors. Our church family is amazing. Our friends. Her friends.
That’s a glimpse into our rare story. If you’d like to learn more about AHO, you can click HERE and HERE. If you’d like to learn more about Rare Disease Day, click HERE.
