Hello, my name is Heather and I am from the United States/Michigan. My sister and I were one of the first two diagnosed with CSID over 30 years ago. I am very familar and did the clinical trials with the FDA for Sucraid (the oral meds used to tolerage Sucrose). It is so interesting to hear and see new faces with this disease. We have full mutation of the disease so we can not with stand any sucrose. For us we went 16 years with out the drug, but now I can't imagine (although possible) going with out. It is truley amazing to hear of stories, for my sister and I it seemed like forever and we were the only ones. We have been on Sucraid for 16 years now and conducted the FDA trial and for so many years my parents worked hand in hand with Dr. Treem our of New York.
They are now coming up with mutations of CSID where maybe our children have it. I am waiting to speak with Dr. Treem, as my sister may have a daughter with CSID and I am thinking my daughter may have a mutation to it too. This is all so new and I am looking to gain experience with other patients that have CSID or have a sibling with CSID that may have passed this genetic disorder to there children.
Heather -Age 33
Diagonosed at birth
(My Sister -Age 37 Diagonosed at about 1 year)
(My other sister-Age 35 Does not have CSID)