Where we are today…

Where we are today…

Hannah is almost 3-1/2 months old already, can you believe it?

• Skin biopsy on 11/12. This is so they can get a full DNA and enzyme test on Hannah without having to get bloodwork each time. Also used to rule out/rule in Gaucher’s disease.
• Opthamology on 11/19. Meeting to do a full retinal exam on Hannah and also to check for cherry red spots on her retina (Neimann Pick disease). Also to get some ideas at why she has a blue tint to the white part of her eyes.
• Early Intervention Services on 11/20. Dr. B, our pediatrician, wants us to get started with them right away so they can monitor her neurological and developmental milestones regardless of what we end up with.
• Genetics specialist on 11/26. If the Neimann Pick isn’t back by then, not sure what we are going to talk about.

Gaucher’s disease is still on the table, but it may be close to being ruled out. Per the specialist:
“It would be very unusual for a patient with Gaucher disease to have 50-55% of the normal enzyme activity. It seems most likely that your daughter is a carrier and that her symptoms are not due to Gaucher disease. Testing for NP sounds like a good idea. If Dr. G does do a skin biopsy, the test for the Gaucher enzyme could also be repeated on the skin fibroblasts just to confirm the blood levels. There are also some other blood tests that indirectly can point to a diagnosis of actual Gaucher disease. THe most reliable among these is a test called chitotriosidase. This enzyme is usually very high in patients with Gaucher disease-moreso than in virtually any other disorder. However, 6% of the general population have a mutation due to which they do do not make chitotriosidase so it is not a test that is 100% useful. Additionally, patients with NP can have elevations of chitotriosidase but not nearly as high as those typically seen in Gaucher disease. Another blood test is CCL-18 or PARC but this test is not commercially available in the US as far as I know. ”

We are currently waiting on the results of the Neimann Pick A and B tests. Unfortunately, those aren’t due back for three weeks. Why the heck does it take so long?????

Emotionally, I’m having an extremely difficult time with this right now, especially having NP on the table along with Gaucher’s. Why can’t there be something on the table that isn’t going to take Hannah away from me in a couple of years?? There just has to be something else!