Hearing it from the expert

We are here in Dallas tonight! 

We just got checked in a few hours ago after our meeting with Dr. S., the “world-reknown expert” on Gaucher’s Disease.  Such a nice guy, and his assistant was such a sweetheart.  Since it isn’t a children’s hospital, they don’t see a lot of babies.  So as soon as we checked in, she asked if she could take Hannah around the office to meet everyone.  Hannah loved it.

Dr. S. took our history as well as the info given to us by the other doctors and past test results.  He also did his own neurological exam.

He found the same findings that Dr. E., did last week.  Specifically, the abnormal eye movements.  They are called “saccadic” movements.  Hannah can’t follow items that are rapid.  He explained it great — you know when you are driving and pass a lot of trees and your eyes go from tree to tree?  Her eyes don’t do that.  She just stares straight ahead.  She also hears things and recognizes them (like my voice from across the room), but she can’t seem to find where that voice is most of the time.

The interesting thing is that he gave us the impression that type 2 is a much more distant possibility than Dr. E. thought it was.  He doesn’t know for sure because Hannah is still young.  But his overall impression with her neuro and physical exams were that everything was normal or “on track” except her eye movements.  He even thinks that she isn’t as “delayed” as certain people thing she is (but we are still going to take advantage of Early Intervention).

He tells us that we will have a much better idea if we are dealing with type 2 or type 3 in about 4 months.  If she has type 3, then the Cerezyme treatment will make a noticable difference in her spleen and liver as well as a rise in her platelet count.  Apparently, Cerezyme has very little to no effect on type 2 patients.  So if we see the Cerezyme work in a few months, we can probably rule out type 2!

He also wants Hannah to do another skin biopsy to look for some kind of abnormality in her skin cells.  I don’t know the details, but in type 2 patients, this abnormality shows up on the biopsy.  If she has type 3 (or type 1 for other patients), then this abnormality isn’t present.

We also have to wait for the DNA sequencing to come back.  We’ll forward those results to him.

Another interesting thing he said is that it is impossible for Hannah to have absolutely no enzyme activity, and that the test done must have been done wrong.  He said that having no enzyme is “incompatible with life.”  So where that leaves us with that test, I don’t know.

He wants to see us back in about 6 months, and he is going to work closely with Dr. E. and Dr. B.  He also made himself immediately available if we have any questions or concerns.  You could tell he fell in love with Hannah, as he kept calling her a “beautiful baby” and a “happy baby.”  Of course, Hannah was smitten with him too (and his nurse!) — she loves people.

He said that we are doing everything we should be doing, and he is very happy with what Dr. E. has done so far, and he is very impressed about Dr. B., as I guess most pediatricians aren’t that into finding out what is wrong with their chronically ill patients. 

We do find it interesting that both Dr. E. and Dr. S. had the same physical and neuro exam results, yet feel totally different towards a diagnosis. 

Bottom line…We still don’t know if we are dealing with type 2 or type 3 yet, but we walked away feeling much better.  He seemed pretty secure in feeling that it wasn’t likely type 2, but he couldn’t say for sure until we 1] get the DNA sequencing back and 2] see how she does with the Cerezyme treatment in 3 to 4 months.  We also got the impression that type 1 is not really a possibility anymore, but again, he won’t commit to anything yet.