Archives for January 2009

I’ve done so much this morning, but I have so many other things in my head that need to be done too. My head is just spinning! I don’t think this has all soaked in yet, which is probably a good thing.

1] Talk to Aetna, our insurance company this morning. They are going to assign me a caseworker for Hannah so I can direct all of my questions to one person. The member services person I talked to ‘thinks’ that the Cerezyme treatment would be considered a medical expense as opposed to a pharmacy expense because it is done either in a hospital or an outpatient clinic since it is an IV-based infusion. But she isn’t sure. Hence, the assignment to a caseworker. That would be awesome, as we would only have to cover 10% of the cost. But I’m not getting my hopes up, because I’ve been reading about how some insurance companies find ways not to cover this kind of treatment.

2] Talked to our Early Intervention service coordinator. Hannah is going to start developmental therapy next Wednesday, and we will come up with a game plan for how often and what then.

3] Dr. W., the Gaucher’s specialist back east who emailed with me about 5 times yesterday (God bless him!) told me to find out if Hannah has a specific gene mutation (“If it is N370S, it is very, very unlikely that Hannah has type 3 disease despite her presentation early in life“). Then Dr. B., our amazing pediatrician (couldn’t ask for better), took it upon himself to look it up in the database (since I haven’t heard back from our genetics doctor since yesterday) and found the test results and forwarded them to Dr. W. Hopefully we’ll get an answer soon!

4] Found out that Dr. S., the expert that we were referred to, JUST joined Aetna’s network on 1/1/09! He is covered by our insurance. How amazing is that! We have an appointment with him scheduled from February 12th. It is about a 3-1/2 hour drive, but it will be so worth it.

5] Found out that the Cerezyme treatment is based on weight. So since she is just a baby, it shouldn’t cost anywhere near as much as it would if she was an older child or an adult. So if the insurance doesn’t cover it, that will help at least.

6] Set up an appointment with SSI (Supplemental Security Income) for next week to see if Hannah qualifies for benefits. We could use all the help we can get with these medical bills of hers. But I’ve been hearing that they reject almost 70% of the people who apply and a small percentage of that do get it after an appeal. The lady on the phone was very nice, as Hannah’s situation does “prequalify” us for an appointment. We’ll see.

7] Type 3 is so rare!! OMG, I am having such a difficult time finding parents with type 3 young kids. As a matter of fact, I’ve only found two so far that had infants diagnosed with type 3. I know Gaucher’s disease in general is rare, but apparently type 3 is the rarest of the rare! I’m not giving up though. I’m working to make some contacts through a couple of Gaucher’s organizations.

8] Ordered Hannah’s birth certificates. Two copies. $22 each! I remember when they were only $10 each back in California. I ordered two copies because we are going to need it for the SSI meeting and probably for other programs as well.

I’m probably missing something, but I’ll update later.

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!