Jana and Sara are 32 year old twins, born and raised in North Dakota. We had the pleasure of speaking with both of these precious young ladies about their rare story.
The girls’ mom and dad were made to understand that having kids was not possible for them.
They adopted a child, and then to their delight, they gave birth to four children as well. Then came the surprise: twin girls. By the time twins Jana and Sara were born, their mom and dad were very experienced parents and very seriously concerned about their health.
By about 18 months old, their dad was pulling them in a wagon around a University Medical center while they got tested. A lot. Actually, Sara got tested a lot. Jana appeared so fragile that the physicians mostly choose Sara to poke. They figured that when they discovered what was preventing her from thriving, they would know what was wrong with her identical twin as well.
Eventually, the diagnoses came: Cystinosis. Both parents have to carry the altered allel, in order for a child to have cystinosis and even then, there is only a 25% chance that a child will inherit the mutation… and here they were, the sixth and seventh kids. The jackpot of rarity, doubled.
Kids with cystinosis tend to be short, and thin, and fragile. Their inability to process cystine leads to the build-up of crystals in their eyes and in their internal organs. Medicine can slow this process but you have to take a lot of it. And when you are a little kid you usually have trouble swallowing pills so you have a greater volume of Yucky Stuff to take. And eye drops. You have to open your eyes how many times a day and take eye drops?! But Jana and Sara at least had each other and they both had to do all this. Their parents found that making the medicine cold helped, and later the kids took more and more responsibility for chilling and taking their meds.
High school was the worst. Then again, many people would tell you that high school is the worst. Luckily, they had each other and another big help. Their father was a teacher in the school. Still, they knew that there were rumors about them and together they finally decided to “give a talk about cystinosis” to their classmates.
Unfortunately, this was less than successful in getting others to understand their rare condition. But thank goodness high school does not last forever. Both girls have gone on to college in culinary arts, and both are successfully working. As adults, they got in touch with the Cystinosis Research Foundation and the Cystinosis Research Network, and have learned more about their condition, and were able to meet others with their condition.
They live full lives- enjoying their family reunion in Montana, social outings with friends, and their work. Their message to others with cystinosis?
“Our message to kids is don’t give up the fight and believe in yourself.”