Archives for January 2009

To those who leave comments on my posts, thank you.
Thank you for being my support.
Thank you for validating my feelings, even if you may not agree with them.
Thank you for making me feel like I’m really not alone out here.
Thank you for spending your quality time thinking about my beautiful daughter.
Thank you for your well thought-out suggestions.
Thank you for worrying about me, especially when I don’t take care of “me.”
Thank you for caring.
Thank you.

Even though this blog really focuses on Hannah, there are two other VERY special kids that share our lives. I choose to keep their lives out of this blog because I’ve decided to only bring them in when it pertains to Hannah. After all, this is my current therapy for this whole situation.

Big Boy E is 8 years old, and Little Girl A is almost 5.

We gently broke it to the kids that Hannah is sick. They know she has gone to a lot of doctor’s appointments because of her big tummy. We told them that she has a problem inside her body, and that she has to get medicine every two weeks poked into her arm, and it is not going to be fun for her. We also said that she has a lot of doctors working for her to get her “fixed up.” That was the extent of it. Little Girl A was like “okay, love you Hannah!”. Big Boy E asked a few more questions but nothing “deep.” Just more about the procedure.

We also explained that we are going to be doing a lot of stuff to help the doctors work to find better medicines for Hannah, fundraisers, visits to specialists, etc. When Big Boy E asked what he could do to help, I didn’t know what to say. So Daddy said “you can stuff envelopes that we have to send out.” He was cool with that, but of course Little Girl A wants to do that too! Now we just need to find something to stuff into an envelope!

We never mentioned the possible future symptoms, physical or neurological, that she may encounter or the possibility of her being taken away from us much earlier than she should be. That is just stuff we didn’t feel they needed to know. If future symptoms come up, we’ll deal with that as it happens.

I think we handled it pretty well. I’m satisfied. We’ll answer questions as they come up, but we are only going to tell them as much as we think they can handle at each of their ages.

Someone needs to write a guidebook on how to deal with a rare chronic illness diagnosis…

I say “round 1” because after everything I’ve read, this is going to be a long process to get Hannah covered and to find out exactly what Aetna will end up covering.

Apparently it isn’t as straight forward as 90%/10% (we cover 10%) and a yearly max-out-of-pocket like our coverage says. Basically, Aetna, our doctor’s hospital group, and Genzyme (who make the cerezyme) are going to “negotiate” a payment, and then it has to go to the Aetna review board for approval. I would love to be a fly on that wall! It is my understanding that once the review board goes through and comes up with what Aetna will pay and what we are responsible for, then I’ll hear back. Many people I’ve talked to said that they have had to appeal the decision, some with favorable outcomes and some with no change.

The only positive so far is that Aetna already has active codes for the ERT (enzyme replacement therapy) and the process for it, so Hannah won’t have to go through a precertification process before getting started. It should save us some time.

I’m hoping to hear back from our Genzyme rep who is working with Aetna and our doctors. Thank goodness for her… she at least is getting us answers and a lot faster than I could!

Stupid, I know. I don’t know if it is because we were expecting a diagnosis of NPC, which would have been much worse for Hannah, or if it is because I’m relieved to finally have a diagnosis and now “know the enemy,” or if it just really hasn’t hit me yet, but I am feeling guilty for not being totally upset with this diagnosis. I mean, I’m being threatened with Hannah being taken away in a couple of decades plus (regardless of type 1 or type 3) developing painful physical symptoms. Shouldn’t I be crying more often? It has only been 4 or 5 days since we found out, yet I feel like something is wrong with me because I am just not crushed. I can’t explain it, I guess.

I am in such a “fight” mode right now. Fighting to learn all I can about Gaucher’s. Fighting to come up with a game plan to get Hannah the help she needs. Fighting and getting angry at some of these laws that we have that will limit Hannah’s right for everything she can achieve in the future. The more I learn, the more I realize I have even more to learn. It is almost totally consuming me, but we have much such a strong and conscious effort to step back and spend time as a family and to give all three of our kids fun and attention this weekend.

Everyone keeps telling me how much of a miracle it is that Hannah is here, especially after defying all the odds of our infertility (even with 4 failed IVFs). There has to be a purpose she is here. I’ve said it before, but I truly believe God wouldn’t bring her to me just to take her away and cause her pain and suffering. Maybe she is “the one” who is going to help find a cure for Gaucher’s disease or even a treatment for type 3 (if she indeed has type 3).

Maybe Hannah’s purpose here is to find the cure for Gaucher’s disease. Maybe she holds the answers? So many things are falling into place to make this happen — one of the foremost leaders of Gaucher’s research in the world just happens to move 3 hours from us AND is willing to take Hannah on as a patient? Finding one of the other foremost specialists in Gaucher research back east who has basically held my hand since we found out until we can see this new doctor PLUS willing to share this info with my doctors? I mean, how lucky can we be in that respect?

It is in her smile, her laugh, and her spirit. She does have a purpose for being here and being struck with this disease. She’s going to kick Gaucher’s ass! You watch.

Hannah’s facebook cause has reached beyond the 250 member mark. That is 250 people who now are aware of Gaucher’s disease and what it can do. That is 250 people who can help spread the word about this disease that affects 10,000 people worldwide. Absolutely amazing!

To all of you who have joined, thank you, thank you! To all of you who have invited your friends to join this cause, thank you even more!

If you haven’t joined and you are on facebook, just go to the Hope for Hannah cause.

I’ve updated my Gaucher’s page above, so if you want to get more detail into what this disease is all about, click here.

Hannah has the most severe form of Gaucher’s disease, regardless of which type it is. Whereas most Gaucher’s patients have a deficiency in the glucocerebrosidase to some degree, Hannah’s fibroblast study shows she has absolutely zero of the enzyme. Can’t get lower than zero. According to Dr. W., the specialist back east who has been answering all of my questions (Hannah’s guardian angel), says that is “of concern.” What that means in terms of prognosis with the painful and debilitating physical symptoms and how well the Cerezyme treatment will work on her, I’m still trying to find that out.

We know that one of the mutations, most likely mine, is Type 1 Ashkenazi Jewish type (being that I’m Jewish). We have no idea what Daddy’s mutation is. That will determine which type of Gaucher’s she has. Dr. G., the genetics doctor, is sending that order in to be tested. Could take 3 to 4 weeks. Daddy’s mutation is a probably a very rare one seeing that it also produces absolutely no enzyme and is NOT one of the more well known mutations. Still hoping that it is of the N370s variation, because that would lead us to a Type 1 diagnosis.

I called Genzyme today, and I was set up with a case worker for Hannah. Very caring lady. She is my “go to” person there, and she is going to work with the genetics team and our insurance company to get this all started. It seems, and I’m not sure yet, but after our deductible, we will be responsible for 10% of the treatment costs. Nevertheless, I’m glad to have her on our side because the genetics doctors aren’t familiar with what is required to get this treatment started, as they have only had four Gaucher patients in their clinic.