On Rare Disease Day 2017 at Capitol Hill, we spoke with Drew, a teenager diagnosed with Alport syndrome who discusses the symptoms she experiences along with limitations from her disease.
Me and my youngest sister are affected by it. She is on like early stages because I had it we were able to catch it early for her. We both have hearing aids right out I had a transplant year-and-a-half ago I have to take pills both morning and night about six morning and night. My younger sister, one of the symptoms obviously hearing loss from it. We would also get tired more often like and in fifth grade I had to like do half days because I was just so tired and stuff. But then I went on to dialysis and it kind of helped me get more energy back into the day that can complete my days.
Like gymnastics, I've been wanting to try a little bit but you know at first when I had dialysis I would have to like go out of a pool every like 30 minutes so my dad could like check the tube to make sure that it was like okay and nothing, no water or whatever was getting into it. Also with that I wasn't really allowed to have like sleepovers anywhere else because they had to hook me up to it but the way I did it was I could go home and like sleep for eight hours and it would just work through those eight hours where if I did the other way I would have to go to the hospital three days a week.
About Alport syndrome
Alport syndrome is a hereditary kidney disease that causes a decline in kidney function, hearing loss, and vision problems. The disease leads to kidney failure for most boys by the time they reach their 20s. Girls are affected too, with some impacted similarly to boys but most seeing later disease progression. It is estimated that there are 30,000 to 60,000 Alport syndrome patients in the USA, but the disease is still often misdiagnosed or undiagnosed.
There is currently no treatment that has been proven to prevent the development of kidney failure in people with Alport syndrome; however, early diagnosis is essential as there are medications to delay the progression of the disease.