There is a yearly conference for families of children with special needs that is put on by Texas Parent 2 Parent up in Austin in a couple of weeks.  Even though much of the conference is dedicated to school-age children and autism/down syndrome, there still were a few great sessions that I thought would be very helpful for Daddy and I.  So, we signed our family up to go.

Ethan and Abigail will be in their child care program that day, which will be good exposure because there will be lots of siblings of kids with special needs plus special needs children as well.  So, for as much as this conference is for us as parents, I think it will be wonderful for our kids as well.  Hannah will be staying with us, and if she is “active” during one of those sessions, either Daddy and I are going to sit that session out since we are both signed up for the same sessions.

I’m looking forward to it.  I think it will be a great experience for all of us (especially the Friday night “family gathering”)!

For the past couple of days, I noticed that Hannah’s abdomen was getting bigger.  Then last night after her bath, Daddy made the comment to me that he thought her stomach looked bigger.  Having him make that comment without telling him what I was thinking proved to me that I wasn’t just be paranoid and seeing things.

Then this morning while playing, she was having a harder time breathing.  It was almost back to the days when her spleen and liver were so huge they pushed up her lungs so much she didn’t have much air in them.  It is kind of like a gasping sound, but she really wasn’t gasping.  She was just running out of air quicker than normal.

So I called the pediatrician’s office, and our pediatrician was out of town this week (Okay, he does deserve a rarely-taken vacation — but bad timing!).  So we saw one of his clinic partners.  I was kind of dreading it because this pediatrician really doesn’t know Hannah or her situation, so I was fearful that something would be missed.

The nurse came in and took her oxygen stats — 99% on room air!  Then, we got her naked and weighed her 18 lb 15-1/2 oz.  Those were good signs.

The doctor came in and listened to what I had to say.  He listened to her lungs really thoroughly as well as her heart, and everything sounded good.  Those were the words I wanted to hear! 

Then it was on to the abdomen.  Her liver looked much bigger than normal, at least 2 cm bigger than two weeks ago.  Then he palpated on her abdomen, and she sounded like a drum, a loud drum.  She has so much gas in there that she is about to pop!

Whether it could be a side effect from the amoxycillin for her ear infection (which she still has) or a reaction to the new formula (Grow N Go, 9 mos and up), we don’t know.   She also has been a bit more constipated than usual to the point where 3 times in the past few weeks, she was in agony because she was unable to poop out what turned out to be huge, solid logs (I would have to help her, not fun!).

He prescribed some Florastor for kids that we can use in her formula for gas relief.  If we don’t see a change by Friday, he wants to see her again.  He was very concerned that he didn’t “miss anything” because of her Gaucher’s disease, but everything he said made sense to me. 

Keep your fingers crossed that we can deflate her!

Because Hannah’s disease progression is slower than was originally expected (thank goodness!), we have been able to slowly plant the seeds of Hannah’s illness to Ethan (8) and Abigail (5). 

We made a very strong point never to say she is “sick” but that she has a “disease.”  We don’t want them to connect being “sick” with always having a serious outcome.

Because Ethan is older, we have able to get more in depth with the situation.  For example, there is a boy in his school with physical special needs (including a wheelchair and constant assistant).  We were talking about him the other day, and I made the comment that “you know, Hannah will be a “special needs” child too.”  That led to a discussion about her developmental delays and orthotics.  He had never put two and two together before, but this was a good discussion into it.  He made the comment, however, that “Hannah doesn’t look like she has special needs.”  After explaining to him that special needs is more than just a physical thing, I think he has a better idea of the situation.  Fortunately with him, we had the discussion, he asked questions, and we have moved on.  At least that door is open now.

With Abigail, we talk about her disease causing problems with her eyes and making it harder for her to learn to walk, eat, and crawl.  Abby knows that Hannah has lots of doctors appointments, but we just say they are trying to help her.   That seems to work for her.

One step at a time.  The discussions are now out there in the open, and as time goes on, we will keep sharing more information as it becomes necessary.

There is a discussion on our GD23 family list regarding the personal choices made by different families on whether or not to trach their GD23 babies. The families were so passionate about their decisions, and I was able to see both sides of that decision very clearly. So many heartful and painful decisions such as siblings perceptions vs quality of life vs increased medical intervention. I understood every single point of view, even though many of them conflicted with each other.

And then it hit me. There is a very strong probability that we may be faced with that decision with Hannah sooner than later. Breathing issues due to a “floppy” throat are very common, especially with GD2 and younger GD3 children.

I don’t want to be faced with that decision. I hope we never are forced to make that decision.

Whoo hoo!  Our plane tickets have been purchased (well, the NIH ordered them)…

We will be leaving for Bethesda, Maryland, on July 13th (arriving in the evening) and leaving Saturday, July 18th, around noon.  We will be staying at the Children’s Inn adjacent to the hospital, but they want Hannah listed as an “inpatient” and have an inpatient room so we will have a home base during the day with nurse observation after each procedure.   Then, we will be given a “pass” overnight so we can be comfortable and less claustrophobic at night.

We should be getting an itinerary of tests and consultation in the next couple of weeks.