When they were just two years old, Sara Healy and her twin sister, Jana, were diagnosed with cystinosis, a genetic disorder that causes an amino acid (cystine) to build up in the body’s tissues and organs. Their early experiences with treatment resulted in side effects that left them feeling socially isolated, as did their well-intentioned parents’ efforts to make them feel “normal.” Not until Sara and Jana met other families with cystinosis did they feel truly accepted. Now, Sara hopes to work in the rare disease world professionally.
During the pandemic, I decided to go back to college to get a nonprofit management degree, because I wanted to be an advocate and more involved in the rare disease community in general. I graduated in May, and I'm hoping to use my degree to help advocate and spread awareness about the rare disease community, and cystinosis in particular. I'm a cook right now, but I won't be able to handle being a cook forever. I'm 38, and I have cystinosis, and as a cook, you’re on your feet all day in a hot kitchen.
My twin sister Jana and I were diagnosed with cystinosis when we were around 2 years old. Before that, Mom and Dad didn't really know what was going on with us. First, they thought it was a Vitamin D deficiency. Then, they thought it was rickets. Then they thought we were malnourished. We lived in a small town in North Dakota, and when the doctors couldn’t figure it out, they told us there were two places we could go for answers: Denver or Minneapolis. My parents chose Minneapolis, so they took us both there. Jana was too sick to do tests on, so they did the tests on me. The doctors there eventually figured out we had cystinosis.
We were born in 1983, when there wasn't an FDA-approved drug yet. But one of the residents took a liking to our family, and found this clinical trial that was going on for a new drug, and he was able to get us in the clinical trials. The side effects were bad-smelling breath and body odor, and an upset stomach. From there, we started regular treatment, and every six months or so, we would go to Minneapolis for blood work and exams. The doctors would look at our eyes for cystine crystals, which is a symptom.
Mom and Dad wanted us to seem normal, but we didn't really feel normal. In grade school, we avoided telling anybody about our illness, and when we did, they treated us differently. We didn't have a lot of friends when we were in school. We had a few friends, but they didn't understand the side effects of our pills, like the smell, or the fact we had to take pills every six hours. It wasn't until college that people truly accepted us. Basically, Jana and I were each other's friends most of the time. We always knew someone who had the same illness, and we always knew what each other was going through, so we weren't completely alone in the situation.
Because Mom and Dad wanted us to seem normal, they didn't really take us to any of the support group events out there. I'm guessing they just didn't really do the research to see that there were others out there like us, because they really wanted us to feel normal. But in a way, by not doing that for us, we felt more abnormal and more alone. We have five other siblings, and we were the only ones with this condition, so we felt like we were a burden. There were times when I think they were jealous because our parents had to spend more time with us on doctor's visits, so they probably felt left out sometimes.
In college we started searching for cystinosis groups, and we found CRN, or the Cystinosis Research Network. We found out that they do conferences every other year where affected families meet up. We decided to go to one of them. I think the first one we went to was in Chicago, when we were in our late 20s.
I know Mom and Dad had our best interest at heart. I know they wanted us to feel normal, but we didn't feel normal. But at the conference, we made friends, and we joined Facebook groups, and we started getting more involved because we felt like our voices were finally being heard. If I could go back, I’d tell my parents not to be so concerned with us feeling normal, and be more open to ways to reach other cystinosis families, so when we grew up, we would have a place we could go — even once or twice a year — where we’d see people like us, and we didn't need to feel different.
I found AllStripes through the Cystinosis Research Network. Because AllStripes combines different medical files altogether in one place, it’s a lot easier for my doctors to review them. I want to be part of things like this to make people feel it's okay to have a rare disease. You're not different, and you're not alone.