Gaucher’s…What I know now

I’ve updated my Gaucher’s page above, so if you want to get more detail into what this disease is all about, click here.

Hannah has the most severe form of Gaucher’s disease, regardless of which type it is. Whereas most Gaucher’s patients have a deficiency in the glucocerebrosidase to some degree, Hannah’s fibroblast study shows she has absolutely zero of the enzyme. Can’t get lower than zero. According to Dr. W., the specialist back east who has been answering all of my questions (Hannah’s guardian angel), says that is “of concern.” What that means in terms of prognosis with the painful and debilitating physical symptoms and how well the Cerezyme treatment will work on her, I’m still trying to find that out.

We know that one of the mutations, most likely mine, is Type 1 Ashkenazi Jewish type (being that I’m Jewish). We have no idea what Daddy’s mutation is. That will determine which type of Gaucher’s she has. Dr. G., the genetics doctor, is sending that order in to be tested. Could take 3 to 4 weeks. Daddy’s mutation is a probably a very rare one seeing that it also produces absolutely no enzyme and is NOT one of the more well known mutations. Still hoping that it is of the N370s variation, because that would lead us to a Type 1 diagnosis.

I called Genzyme today, and I was set up with a case worker for Hannah. Very caring lady. She is my “go to” person there, and she is going to work with the genetics team and our insurance company to get this all started. It seems, and I’m not sure yet, but after our deductible, we will be responsible for 10% of the treatment costs. Nevertheless, I’m glad to have her on our side because the genetics doctors aren’t familiar with what is required to get this treatment started, as they have only had four Gaucher patients in their clinic.