It is hard to believe that we are already planning our next NIH visit!   I wonder what DC is going to be like at the end of February when our next visit is tenatively scheduled.  It isn’t going to be as in-depth as our first visit back in July, but I think they are going to do another EEG, BAER, meet with PT and OT, and a neurology consultation again.  I’m not sure what else they are going to do yet.

As silly as it may sound, my “hope” for our next visit is that Hannah will be walking “with assistance” between me and my husband.  I would love to be able to walk into the National Institute of Health’s building with a walking toddler.  That would show amazing progress!    I’m not getting my hopes up on it happening, but she is doing so well these days and can walk about 3 or 4 feet when holding our hands with her in between us.

Next week we pick up her new SMOs (ankle braces).  I let Abigail pick them out, and she picked out Hello Kitty design.  Hey, it almost was Miley Cyrus, but I nixed that idea!   Hard to believe it has been almost 7 months since we got the old pair.  Her feet have grown!

Hannah’s 18-month birthday is coming up in two weeks.  Makes me happy!

Our world changed exactly one year ago today….

We have a diagnosis!

OMG, I’m shaking as I type this. I just got a call from our genetic doctor’s nurse. “We have a diagnosis” is how she started the conversation. It is official. She has Gaucher’s disease! Even though Gaucher’s is still a rare and serious condition, there is hope and treatment! We don’t know what subtype of Gaucher’s it is yet, but the fact that it COULD be type 1 (type 2 and type 3 are life-limiting), which will give her a normal life span, OMG, there is hope!!!!!

Our genetics doctor wants to see us this afternoon, so I have to take off now. I’ll update more when I get back tonight!!!

(later that afternoon)

I’ve got so much information going around in my brain right now that I know I’m going to put something wrong here, so bear with me. We met with Hannah’s genetics doctor this afternoon, and he believes that Hannah has, most likely, Gaucher’s type 3 (life expectancy late teens to early adulthood). This is based on “his research” and the fact that her symptoms presented at birth, which is extremely unusual. It would be more likely Type 2 (life expectancy 2 years) because of the onset of symptoms, but because she isn’t showing any neurological signs and she is almost 6 months, he feels that type 3 is most likely. He doesn’t believe it is type 1, but he cannot say for sure. Basically, this is such a rare condition that this hospital (one of the top 10 in the country) only has 4 patients with it.

There is a treatment, Cerezyme, which will deal with the physical aspects of Gaucher’s disease. We are looking into getting it started. However, preliminary research for this shows this treatment to be about $10,000 a treatment — treatment is every 2 weeks via IV — that’s over $200,000 a year. I have NO CLUE what our insurance will cover. Obviously, this is one of the top things I”m going to look into now that we know what we are dealing with. I mean, they aren’t going to NOT treat her, are they?

There was also talk about a bone marrow transplant, but I forgot how that fit into the scope of things. More research.

We still have to “wait and see” on the neurological symptoms (which separate type 1 and 2/3). If she shows any neuro signs like more significant developmental delays, eye movement problems, seizures, etc., then that means it is definitely type 3 and it is progressing. The developmental delays she has now he won’t attribute to a “neurological problem” at this point because 1] she is so young and not that delayed, and 2] she was one month premature.

I’m going to be sharing a LOT of stuff over the next few weeks about what I learn, be forewarned.

Gaucher’s disease, type 3, gives Hannah 15, 20 years or so with us. But you know what, we can handle that. A LOT of advances can be made in just a few years. Hannah will be at the forefront of those advances, if I have any part of it. Which I plan to (and am recruiting a lot of people to help once I figure it out!). If she does indeed have type 3, and she develops neurological problems, then we will do whatever it takes to keep her a happy baby and make her comfortable. I’m not scared of having a special needs child, especially when she has a smile that warms your heart like Hannah’s does.

Thank you for all your prayers and good thoughts. Please keep them coming. We have a wild ride ahead of us, and we could use all the support and helpful ideas we can get! (Especially with dealing with insurance companies!)

I think Ethan (9) and Abigail (almost 6) are really starting to be more affected by Hannah’s disease now, especially after this last 911 ambulance/ER visit. Unlike the first time, Ethan and Abigail were in the ER room when Hannah was being worked on, and they saw/heard much more this time. Last time, they showed up after Hannah had fallen asleep and was just being monitored for a few hours.

Ethan started freaking out a little bit when Hannah’s O2 saturation started falling even though Hannah was resting quite comfortably. He started crying and panicking, but it turned out the probe had just fallen off her foot and wasn’t working any more. We lied to him and said that in the future he doesn’t have to start panicking until her number is in the 60s (of course, we would be in FULL panic mode if that ever happened). But at least if he sees the 80s, he knows that it isn’t perfect and she needs help, but she will still be okay with the oxygen.

Abigail is showing signs in other ways, particularly in her need for attention, playing “doctor” all the time and using all the phrases and procedures that she has seen Hannah go through. She acts more numb to it than Ethan does, and she seems to just soak it all in and keep it to herself.

When I saw Dr. Bhakta, the kids’ pediatrician, this morning, I mentioned this to him. He is going to see if TCH’s Childlife program has any help for siblings of children with diseases, as they usually just help children who have the disease. He also thinks that we should probably look into some psychological help for Ethan and Abigail for what I am assuming is because of the progressive nature of this disease. I can’t imagine what it is like for them seeing paramedics and ambulances having to work on your baby sister as well as knowing the other “special needs” she has.

Hannah had another breathing/gasping episode Sunday night requiring us to call 9-1-1 again. We were at a restaurant when this happened, and by the time the paramedics came, her oxygen saturation was at 82% on room air (should be 98% to 100%). The paramedics started her on oxygen immediately so she went back up to 100% rather quickly. This time in the ER, she didn’t fall asleep afterwards as she did the first time. Within about 15 minutes, she was completely fine again, having caught her breath and relaxed.

We didn’t bring our oxygen with us to the restaurant – last time that will ever happen again. We are getting our pulse oximeter (portable) today so we can monitor her next time.

My first thought was this was a bit different than last month because she wasn’t eating anything at the time it happened, so I thought Hannah was having the dreadfully feared “laryngospasm,” which is common in many GD type 2 children. Honestly, I don’t know exactly what it was, as I have never seen a laryngospasm before (I even looked on youtube!).

I do know that laryngospasms lead to the one thing I have been hoping to avoid — the trach. Hannah’s ENT, Dr. Roy, and I have discussed the need to eventually have “the discussion” about it, and I was convinced even before hearing from him this morning that this episode is going to be the precipitus for it. At what point, how many episodes, etc., do we say “now is the time?”

The problem is we just aren’t sure exactly what these episodes Hannah is having actually are.

I talked to Dr. Goker-Alpan at the NIH today, and she also isn’t completely convinced yet these are laryngospasms and instead think they may be seizures and wants Hannah to have a full seizure workup including sleep-deprived EEG, BAER (brainstem auditory evoked response), and even a 24- to 48-hour EEG if regular EEG is negative.

She also wants to see if there has been any change in Hannah’s vocal cord weakness via larynscope, so when we see Dr. Roy next month, we will have him do that as he can compare it with the video from her scoping done about 4 months or so ago.

We also need to start keeping a log of these episodes, regardless if they are big (requiring 911 and ER visit) or small, so we can see if there is a certain trigger or not. Also, it will help us determine the frequency of these episodes which will eventually help us face the dreaded white elephant in the room – the need to have a tracheotomy for Hannah.

I guess for me, the trach represents the next phase in this disease…progression, deterioration, and that the disease is winning. If it is a laryngospasm, it is another piece of “evidence” that Hannah is following the type 2 path, which I just don’t want to happen.