Archives for July 2009

Thank goodness Daddy has Monday off because it is going to be a crazy one. 

Monday morning, Hannah has an appointment with the audiologist and then her ENT doctor, Dr. Larrier. Originally, it was scheduled a couple of months ago just as a follow up for her ear infection, but now it is going to end up being a bit more in depth because of Hannah’s breathing issues, which Dr. B., Hannah’s pediatrician, attributes to airway issues.

Hannah’s lungs have always sounded clear when we have any appointments (minimum of one a month), so we know that she has never had any aspiration pneumonia or anything. We also know that she has had laryngomalacia in the past, and we also know that swallow/breathing issues are one of the symptoms of her disease.

I admit I’m a bit nervous as to what she is going to tell us, but I know that we “need to know.”  We aren’t anywhere near needing a tracheostomy or anything like that yet, I don’t think, since 99% of the time Hannah has no breathing issues at all (outside of getting out of breath when exerting herself a lot).   Keeping my fingers crossed.

Then after those two appointments, we head downtown to meet with Dr. Ondo, the associate director of Baylor Universities Parkinson’s Disease Clinic.  

• My “hope” is that he will do an evaluation of Hannah and her symptoms as an evaluation for Parkinson’s disease to see if there are truly any commonalities.
• My”dream” is that he would be enthusiastic to learn more about the PD and GD connection and get involved with this type of research with me and the others who I am working with. 
• My “fear” is that we leave there with even less of a connection between PD and GD — but, if that is the case, at least I will know!

And that is just the beginning of the week.  We still have dev therapy, physical therapy, occupational therapy, an orthotics check, a rescheduled Cerezyme appointment, and my mom coming into town to get ready to take the kids to California while we prepare to leave for the NIH…NEXT WEEK!

There, I said it. I’m not really the pity-party type of person, but today it just all seemed to hit me. I think the combination of seeing how hard Hannah works in the therapy videos I uploaded last night to Facebook plus seeing her chest retractions when she really gets upset and worked up or maybe it was making the mistake of looking at a “where your child should be at 12 months” development checklist.

THIS IS NOT FAIR!!!

I was playing with Hannah in the living room, as we usually do, and she did something new today. She kept reaching out to hug me.

That’s when I lost it. I just started to cry. This disease is still creeping up in her brain and is causing more problems. This is really happening.

I just stared at her, and for the first time ever, I told her to fight it. I told her not to give up. I told her that I would do whatever I can do to help her.

But I feel like I am failing in that department. I mean, reality check here, what are the odds that I can pull this off? Who am I to think that I really am going to find something to save her life? I feel like I have gotten so little accomplished and have made barely a dent.

It hasn’t helped that I have received very little help or even support from the people who really could help. I can’t do this alone. I have so many wonderful friends who have offered help, but the type of help I need is so intensive and so involved. I think that is one of the most depressing parts of this whole situation.

This Cerezyme fiasco hasn’t helped matters. Even though Hannah is not going to miss a treatment due to it, it really has thrown a curve ball in my plans. The National Gaucher Foundation and Genzyme have been so incredibly wonderful, supportive, and proactive with me, and we were just at the beginning stages of seeing how we could all work together. But now that has to be pushed back a few months until this chaos has normalized (understandably so, that is their priority, not Hannah – so I have no ill will towards them for that).

Don’t know why this has me more depressed today, but a researcher out of the country is working on a possible treatment to help slow down Hannah’s form of the disease. He agreed to test Hannah’s fibroblast cells to see how they would react with what he is working on. He warned me up front that the research data on Hannah’s genetic mutations make this not very likely at all to work for her. But then, this morning, I got an email saying that he would likely know by the end of the month now that he has the cells. I guess I felt like there was hope with this, but now reality is telling me that I’m just waiting for the big “doesn’t work, sorry.” Then what?

Lastly, money. I need to raise money. I need to raise a lot of money. It is going to take money to even attempt to save Hannah…there is no money out there. This could not have happened at a worse time in our economy. Not to mention that we are running out of money personally, and I just don’t know what the heck we are going to do. Money sucks.

I don’t want to lose Hannah. When I step back and look at her, I realize more and more that there is progression in her disease.

I don’t know what to do.

Hannah loves, loves, loves the Wiggles.  I mean, Sam Wiggle comes on, and she giggles and smiles like a little schoolgirl!   There is one part on her Pop go the Wiggles DVD that she absolutely loves more than any!  She gets wildly excited when she sees it.  LOL