An Unexpected and Unexplainable Surprise

We met with Dr. Roy yesterday, Hannah’s ENT. He is one of those doctors that you just feel a trust with, someone that is going to tell it to you straight, but also willing to actively “ride the ride” with us. Dr. B., our pediatrician, searched him out for us after our first ENT wanted us to proactively trach Hannah back when she was 11 months old because of her laryngomalacia and her prognosis.

We starting seeing Dr. Roy back in September of 2009, and yesterday was the third visit with him.   He noticed pretty significant laryngomalacia and some vocal cord weakness when he did his first laryngoscope (camera down Hannah’s nose while she was awake) as well as moderate reflux.   Back then, he heard the stridor sounds Hannah made when she was upset and the breathing issues when she was upset.  The trach was always in the picture, but we were able to walk away from the two previous visits with “We will review where we are in two months.”

Then we had Hannah’s multiple gagging/breathing episodes, two of which landed us with 911 at the ER.  I thought for sure we were close to having to make the trach decision.

We stopped solids and put Hannah on a liquid diet.  Not a single gagging episode in the 6 weeks that we started that.  Not even a minor one!

So when Dr. Roy came in yesterday, Hannah yelled at him.  He actually loved hearing that because he had never heard a strong vocal from her before.  We explained that she does now yell and has a stronger cry these days.  He also thought she looked really good too, which she does.

He did another laryngoscope today, and Hannah was a trooper.  This was her 5th time having that dang camera put down her nose into her throat.  But the results were GREAT!   He was so pleasantly shocked and surprised that Hannah’s laryngomalacia has significantly IMPROVED since our last visit plus her vocal cords were much more active — the vocal cord weakness has IMPROVED as well!  Her reflux is still there but definitely looks better.

We never expected an improvement in Hannah’s symptoms, especially the ones that are so closely tied to her Gaucher’s disease.  But it happened.  Her laryngomalacia and her vocal cord weakness have definitely IMPROVED.  Say it with me, IMPROVED!!  I love saying that!!!

We all agreed that we would rather have to deal with a gastric tube in feeding Hannah if it comes to that than having to deal with a tracheotomy.  For whatever reason, a G-tube just does not seem anywhere near as drastic as a trach.  Dr. Roy also agreed that a G-tube is much easier and safer to deal with than a trach.  But we are not at a G-tube yet, as long as she keeps her weight and keeps growing, we are going to stick to bottle feeding.

So all of the breathing/gagging/feeding issues we have been dealing with for the past many months have been all related to her hypersensitive defensive gag reflex, a neuromuscular nGD issue.  But no laryngospasms, no breathing issues, nothing else.  We have dodged this bullet for now (I know it may happen in the future, but for now I’m rejoicing!).

IMPROVEMENT!!  We drove him from this appointment, and I had a HUGE smile on my face the whole way home.  It was just so unexpected.  It wasn’t that I was expecting it to be much worse (though I was expecting some worsening), but to have it significantly improve?  WOW!!!

Food …. a necessity, a frustration

In addition to get Hannah’s new braces tomorrow, we are meeting with Dr. V, Hannah’s gastroenterologist, tomorrow afternoon.  It is just a followup for her reflux, but I think I’m going to take advantage of this time to discuss Hannah’s feeding regression issues with him.

I’ve become quite nervous about giving Hannah finger foods now such as her goldfish, Vienna sausages, and cheerios.  For whatever reason, the last few times with these, 50% of the time she has choked/gagged on a small piece which led to a gagging episode (nothing requiring 911 or anything like that, just the need to hold her until she calms down).   She seems to have no problems with the Gerber yogurt melts, cheetos, ice cream dots, and Gerber air puffs.

The question we have is with this “hypersensitive defensive gagging reflux”…. is it just going to get worse as her disease progresses or is it something she has to get used to to move forward?

I don’t expect Dr. V to have the answers on that.  That is something I will ask Dr. Schiffmann about.

But Dr. V may be able to give me more insight into her feeding in general, which currently is 5 bottles a day with 1 pediasure, 12 ounces of milk, and 10 to 12 jars of stage 2 baby food – about 1000 to 1200 calories a day.  From what I have learned about nGD, Hannah is hypermetabolic (wish I had that problem!) so the fact she hasn’t gained much weight in 4 to 5 months is not that surprising, and she is still on her “curve” according to Dr. B., our pediatrician.  But at least she hasn’t lost any weight and is gaining in inches.  23 pounds, 30 inches.

I’m not sure that holding off on her finger foods like goldfish, cheerios, and cheetos, are the best thing for her.  I just know that she hasn’t had any more gagging episodes since we have held off on them.

One of the hardest things with this is not being able to move her forward in skills because of my fear.   I admit that I do treat her with “baby gloves,” but I just don’t want to make things worse, you know?

Big Medical Day tomorrow

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!)

Whoo hoo! Gotta love an ear infection!

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

Nighttime Congestion

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.

Sometimes being rare just, well, sucks…

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…

Hannah’s Blog Makeover

As you can see, I’ve done a bit of redecorating around here. Here is why (and my ultimate goal for Hannah’s blog):

• To make it easier for friends and family to follow Hannah’s story (Hannah posts on the main page instead of everything like research, etc.)
• To become a home for other GD23 families to find the latest research and support information
• To share upcoming fundraisers for all GD23 events all over the country (not just Hannah’s)
• To help other families of rare disease find support information and share their stories

I have a LOT of work still left to do, so pardon the mess. I wanted to start getting it online, even though I know it will take a few days to get just what I want to get done completed.

If you find any messups, problems, etc., please let me know (just don’t ignore it, I may forget about it!)

Off to play with Hannah and Abby!  Priorities, you know!

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