With all the excitement yesterday, I forgot to give an update on Hannah and our pediatrician visit!

She is doing great 🙂 At 5-1/2 months old, she is 15 lb 1 oz, and she is almost 25 inches long. She is definitely moving up those growth charts. Not surprising given how well she eats. He has given us the okay to start solids, but I didn’t tell him that we have already tried sweet potatoes a couple of times already (she just doesn’t know what to do with it yet!). But now that we got the okay, I’m going to start trying once a day.

He strongly disagrees with the ENT doctor’s assessment of her overall body tone, because he thinks it is great and right on target. She isn’t rolling over yet, but that could be due to her large abdomen from the spleen and liver. Her spleen is still huge (6 cm below the rib cage, normal you can’t feel it at all), and her liver is still slightly larger than normal (3 cm below the rib cage, normal is 1 to 2 cm). Her platelets were 90,000, just shy of the 93,000 to 105,000 range she has been in for the past 3 months, so basically stable.

She definitely has an old-fashioned cold (you know, the kind where she blow bubbles out of her nose), but her lungs sounded clear so there is no bronchial involvement. Heart sounded great, and everything else looked great too. Still has the breathing stridor difficulties because of her laryngomalacia, but it hasn’t worsened at all.

Instead of an every 2 to 3 week appointment, we graduated to seeing him monthly now! As much as I love Dr. B., (he is the best pediatrician!), having more time in between visits is a good step towards some type of normalcy. Of course, this was before we got a diagnosis, so who knows what is next!

But, bottom line, Hannah is doing great health wise right now. 🙂

I found this doctor, Dr. W., back east on the National Gaucher Foundation website. I had emailed him some questions back when we were first looking at Gaucher’s, and he emailed me back with a lot of details and information. So much so, that even my pediatrician (who I forward everything to) was impressed and glad I made the connection. Dr. W. had sent me an unsolicited email back in mid November asking how Hannah was. I was so touched.

I sent him an email tonight sharing Hannah’s diagnosis and asking him a few questions. Within 90 minutes or so, he emailed me back with the information I asked for AND he told me to go meet with a colleague of his up in Dallas who is one of the leading experts in Gaucher’s Type 3. Not only that, he contacted this doctor to let him know I was going to email him!

I did email Dr. S. asking him if he is accepting new patients, and if we could set up a consultation with him via phone, email, or in person. I just received an email back telling me “absolutely!” He gave me his clinic number and told me to call tomorrow to set up an appointment time. I need to get a copy of Hannah’s records (probably a book!) to bring with us.

He’s not covered by our insurance, but I think he will be worth it. I mean, I KNOW he will be worth it. I’m going to call the insurance company tomorrow to see if maybe he just isn’t on the list, but I’m not holding my breath.

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!)

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!!!

Humidifiers are wonderful! Hannah is sleeping peacefully next to me right now. We are still having a problem with her napping during the day though. She still will most often only take long naps if they are on me. As soon as I move her to her crib or pack-n-play, she wakes up within about 15 minutes. Then, at nighttime, she gets so hysterical before finally calming down on me and crashing. Fortunately, around 9:30 PM each night, I am able to put her in her pack-n-play for the night. Did I mention that she has been sleeping through the night for 3 months now?? Yeah, baby!

Today Little Girl A was home since she only goes to preschool on Monday, Wednesday, and Friday. About 1:30 PM, she went down on the couch to take a nap. Hannah was tired too, so I sat on the other couch in the family room with her on my chest. Next thing I know, I am waking up and it is almost 2:30 PM! I didn’t even realize I was tired enough to take a nap! Kind of cute…all the girls napping in the family room together.

Tomorrow morning is her pediatrician checkup appointment. I don’t have many concerns to bring up, since we just saw him 3 weeks ago. I want to ask him to do a platelet check since it has been 6 weeks since her last one. I want to ask him about her sleeping with her eyes open (really freaky, as they sometimes are about 1/4 way open — sometimes I think she is awake!). What else…to see if her spleen and liver have changed in size. Her weight…I am guessing 15-3/4 pounds. I’m sure I’ll think of more tomorrow.

I’m going to email Hannah’s genetics doctor tonight for an update, since I haven’t heard from his nurse yet. I emailed her on Sunday night. Yes, I probably could/should give her more time before doing this, but I am SOOO tired of waiting on whether or not her skin biopsy is done!

Hannah has had a cold for the past couple of days. Not surprising since I have had one as well, and it has been going around. You know, the run-of-the-mill runny-nose kind of cold.

The problem is, like right now as I am writing this and she is lying in her crib next to me, that she is having a harder-than-usual time breathing. She has always had breathing issues due to her laryngomalacia (poor muscle tone in her throat). But now she is lying on her back (even though she started on her side) and breathing pretty heavily. I keep looking at her chest and throat to see if she has having bad retractions, which she isn’t.

I’m trying not to overreact. I woke up my husband two nights ago and almost took her to the ER because of it. But she made it through the night (with me wide-awake watching her the entire time). She is much better during the day. We got a new humidifier and that has helped quite a bit, which goes back to it being just a cold.

We go back to the pediatrician on Wednesday for our every 2-to-3-week checkup. I’ll definitely bring this up to him. We go back to the ENT doctor (otolaryngologist) on the 26th for her laryngomalacia, and I don’t see any improvement in it. But it doesn’t seem to be getting worse either.