We got the results from Hannah’s gaucher markers bloodwork.  These are the three levels that are incredibly raised when the patient has Gaucher’s Disease.  I’m waiting to hear back from Dr. Schiffmann on whether this is what he had hoped/expected, but they do look significantly down in just three months!

From 2/9/09 to 5/4/09:
Angiotensin converting enzyme (ACE) – 205 IU/L down to 102 IU/L  (normal 26 to 106)
Chitotriosidase (CHITO) – 636 nmoles/hr/ml down to 215 nmoles/hr/ml  (normal 4 to 120)
Tartrate resistant acid phosphatase (TRAP) – 52.1 IU/L down to 20.2 (normal 3 to 10)

Would you believe that Hannah is my easiest child to take care of tomorrow (Thursday)? 

Abby has had two ear infections for over a month now.  She had a bloody granuloma in her right ear that had to be suctioned out a few weeks ago.  She did Omnicef for two weeks, and it didn’t help.  Now she is on amoxycillin (same stuff as Hannah).   She is already on her second set of tubes, but her ENT doctor says that they are clogged now.  Also, he is concerned because she should have outgrown her ear infections by now (she is turning 5 next month).

So he did a nasal swab last Thursday, and I found out tonight that she has streptococcus.  But that doesn’t explain her ear infections, however.  But it would explain why she has been acting so uncomfortable for the past couple of weeks.  Tomorrow, I have to take Abby in to get bloodwork done to test for allergies.  We need to figure out what is going on with her now. 

Also, Ethan had another cold sore breakout, and I am on the last of his acyclovir.  Too bad, I didn’t realize that early today when we saw the pediatrician for Hannah (Ethan was at school). 

Like I said, Hannah will be the easy one tomorrow (hopefully!)

Hannah just has an ear infection in the left ear.  So it most likely is draining down into the back of her throat while she is sleeping, and that is what is making her cough and wake up.  She has always had a little phlegmy issue at nighttime on her back, so this just exacerbated it.  Thank goodness I took a video of it to show Dr. B. because before he saw that, he was very concerned about this being a GD neuro symptom (swallowing difficulties, etc.)  But once he saw that, he looked so relieved and was like “Oh, this doesn’t really concern me at all!”  Phew 🙂  I was so happy after we found out it was an ear infection likely causing it.  

Just some antibiotics, and we go back in two weeks for a recheck!  Phew 🙂

Hannah has always had some type of nighttime sleeping issues similar to snoring.  However, over the last few weeks, it has gotten to be more bothersome for her.  Over the last few nights, she has gotten so uncomfortable to the point where she wakes herself up.   The weird thing is that she doesn’t APPEAR to have any congestion during the day…clear nose and all.

Of course I’m all paranoid about sleep apnea and breathing difficulties since those are “on the list” for the neurological issues of GD23. 

I’m going to see if I can take her into the pediatrician this morning to see if he can hear any congestion in her lungs and take it from there.

It is so depressing how little support there is for Gaucher’s Disease type 2 and type 3. Seriously.

I have only been able to find about a dozen other families who have had children with GD2 or GD3. Sadly, most of their children have already passed away. I can think of maybe 4 other families that I have been in contact with who are still fighting this disease. Four — in the entire internet, and you know I have tried!

I have so many questions I want ask other parents who are going through this or have gone through it. There aren’t even enough families yet to create a mailing list or message board.

I have found other message boards and mailing lists for other rare diseases. Even though they aren’t hugely active, there are enough members to at least have questions answered and get a few opinions. Not for GD2 and GD3.

I really do feel alone in this…