We have a date for our NIH visit to meet Dr. Ellen Sidransky and her team, including Dr. Ozlem Goker-Alpan.   July 13th through July 18th. 

We’d have to leave Monday evening since Hannah has her Cerezyme treatment at TCH that morning, and we USUALLY get out of there by 1:00 PM, but after last week’s delay, we didn’t get out of there until 2 PM because the pharmacy was late.  So, we want to make sure we have time to make it.  We would return home that Saturday. 

They had first mentioned keeping Hannah in the hospital during our 5-day visit, but I asked if we could please stay at the Children’s Inn there so we could be more comfortable and have freedom to just move around.  I can’t imagine keeping her cooped up in a hospital crib for five days, especially if she isn’t being treated for anything!

I’m really looking forward to meeting Dr. Sidransky, as I have talked to her on the phone a few times.   She sounds like a very impressive and passionate doctor.  She has been studying GD2 and GD3 for many, many years.  They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg.  Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus.  They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.

As I mentioned before, my aunt and uncle live a block away from the NIH, so we will have family close by, which is great.  Daddy is really disappointed he can’t go, but he just can’t take any more time off of work.  Also, we just can’t afford to bring Abby and Ethan with us (even though me and Hannah would be paid for), so Daddy will stay home with them. 

What is interesting is one week after we get back from the NIH, Hannah will be turning ONE YEAR OLD!  What a milestone we hit!