Sam and Lars have excellent doctors here in Utah but even they can't answer all of our questions. The disease is so rare that sometimes it's hard to find a doctor who has ever seen a patient with the disease. Our nephrologist is currently treating four kids with cystinosis... basically every kid in Utah with the disease. If I'm wrong, call me. We feel incredibly blessed to have the doctors we have.
This a greatGreatGREATgreat place to find information about cystinosis. Their goal is to register 400 people with cystinosis by the end of 2012! That said, go register now! The information is used to help researchers find out more about cystinosis and how they can help. I have had many questions answered from this site. For instance...
At what age do most patients start cysteamine treatment?
Is it okay to make up cystagon in advance and store it in your fridge?
Are males with cystinosis sterile?
What else should I take into consideration before starting Sam on growth hormone shots?
Do most kids with cystinosis really have blond hair and blue eyes?
What current drug trials are out there?
I just updated the info. for both boys and it took less than 30 min. Yippee!!