Today, Hannah had her occupational therapist come to visit to work on her solids eating, as we have made very little progress in that area.  It worked out perfectly, as Hannah was fed 3-1/2 hours earlier and JUST woke up from an hour-long nap.  After M’s last visit at our house (Hannah would have nothing to do with it), I was so glad Hannah fully cooperated this time. 

We did have some firsts today.   After propping Hannah up in her high-chair with a towel, she would actually play with the baby food (we tried carrots and bananas, separately) on her tray.  It was messy, but she enjoyed it!  She didn’t give us the total rejection face that she used to when she “accidently” got it into her mouth.  She also played with her little people in the food and put that in her mouth.  Definitely an improvement from what we were doing previously!  Who knew a little propping up on the high chair would help so much.

She still spits out her food most of the time and sometimes does a little, I don’t want to say “gagging” because that is more severe, but she does have that type of reaction at times when she swallows.  Not every time though.

She recommended that we have a Hannah do a swallow study.  Not necessarily because there is something obviously wrong, but because she felt it would be a good idea to see where we are at with her swallowing issues, especially since she is at high risk for swallowing difficulties (one of the symptoms of GD2 and GD3).   Even though I know it is not going to be an easy procedure to do on Hannah, I have to agree. 

I just want to know where we are at with Hannah.  If there IS a swallowing issue, then knowing about it now would make it easier for us to figure out what we need to do to try and get her to eat solids.  If there is no swallowing issues at this point, then we know that Hannah just hasn’t figured it out yet. 

I sent our pediatrician an email about this since I’m not sure it if I should go through him or our lead doctor (Dr. E, genetics).

I’m so grateful for such wonderful neighbors, I tell ya.

We had an informal meeting tonight (6 of us) to talk about putting together a fundraiser for Hannah.  I will admit, I felt overwhelmed and incredibly humbled with all of these amazing ideas they were coming up with and willing to do for us.   They came up with ideas like local dinner nights where restaurants will donate a portion of their sales to our fund as well as a community-wide walk/run and silent auction, most likely in September.  I was listening to all these ideas, and it just blew me away! 

I know that Hannah and my kids are worth it.  It is just so wonderful seeing that others are willing to help me fight for my kids, all three of them.  Not only am I working to save Hannah’s life, but I’m working to protect Ethan and Abby from having to see their little sister deteriorate right in front of them. 

I can’t wait to see what comes out of this!!

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…