Where we are at now

Wow, it is amazing what a change of scenery can do for the psyche, you know?  We made it home from Vegas, and it was great spending time with my husband’s family and meeting my new little niece.  She is just so adorable (and so little – 8 weeks old!).  It was nice letting down the “fight” mode for a few days and just “be,” you know?  But now it is time to put the gloves back on.

Here is where we are at with Hannah…

• We are still waiting on the DNA sequencing to be completed to see if we can compare her DNA to one that is in the Gaucher Registry to see if 1] she has Gaucher’s Disease type 2 or type 3, and 2] to see if there is a known prognosis for another child with this DNA match.  They said 6 weeks for this test.  It was sent out on February 7th.  If there is no match, then we may opt for the additional skin biopsy to be sent to Stanford to utilize an experimental test to see if it is type 2 or type 3.
• We have an upcoming swallow study and a neuroopthalmological evaluation.  I have to get the swallow study appt set up this week, but the NeuroOpthalmology appt is in late April.   Other than that, we just have our regular monthly visits with our favorite pediatrician, Dr. B.  and possibly seeing our genetics doctor (Hannah’s lead doctor) in the next few months.  We don’t see her neurologist up in Dallas until mid August.
• Continue the Cerezyme treatments.  Just to clarify to the newer readers of this blog, the Cerezyme treatments ONLY help the physical symptoms that she has from the GD — the enlarged spleen and liver and will help minimize bone problems.  Since it does not cross the blood-brain barrier, it does not help the neurological problems of GD23, which is the part that really sucks.  Basically, we are doing the Cerezyme to make Hannah more comfortable at this point.
• Fundraising.  My neighbor friends are helping put on a Walk/Run for Hannah with silent auction tentatively scheduled for September of this year.  So, if you are near the Houston area, we would love to have you join us.  More details as they become available.  They are also hosting a Chic-fil-a night in April to help us raise funds as well.
• Hannah.  She is stable, so that is good.  She still has some abnormal eye movements, but they aren’t severe at this point (although she does not have any rapid eye movement control).  She still has some slight breathing issues (when she gets really excited or worked up, she breathes a bit heavier — her lungs are most likely smushed because of the enlarged abdomen).  But she is a very interactive baby!  She LOVES people and pretty much charms everyone she meets.  If you already didn’t know she had GD2 or GD3, you would not know she was an ill baby facing a life-limiting disease.