Archives for March 2009

Hannah’s DNA was sent off for sequencing on February 7th. We were told 6 weeks. Two weeks ago, our doctor’s research coordinator was told they would be available last Monday. When she checked on them last week, the genetics counselors were “out of town” and to check back this Monday, today!

I’m scared to death. I know that “it is what it is.” But I look at Hannah at 8 months old, and with the exception of her lack of rapid eye movements and some other minor abnormal eye movements, she seems good. Of course, I’m worrying about the coughing/choking episodes we see a couple of times a day, but those have not been severe. All but one have actually been very minor, with her resolving it within a couple of seconds, which could also be due to her laryngomalacia or just drool.

We know that one of the genes, 84gg allele, is most likely mine. It is a type 1 gene, but the most severe type 1 gene. Being an Ashkenazi Jew, it is likely mine since Daddy isn’t Jewish. He’s the wildcard.

Tomorrow I also have to go back to my doctor for a blood pressure check to see if my BP meds are still keeping me under control. I’m nervous that he is going to “up the dose” because I have a feeling my BP is up with all the stress and lack of exercise lately.

It has been EATING at me that we got declined for SSI because of our income (which is not that great for a family of five!).  So, you know me, I decided to take action!  It is just WRONG that people who need assistance don’t receive it, especially if they have been paying into the system for decades! 

I wrote a letter to Senators John Cornyn and Kay Bailey Hutchison, our Texas senators, about our situation last week.  I ended the letter asking for help with that issue as well as “In addition to requesting assistance from your office to obtain eligibility, I would like to work with your office to alter the eligibility requirements for individuals with severe chronic medical issues to obtain SSI benefits.“

I also wrote our local congressman, Kevin Brady.  Kevin Brady’s office sent me an “I’m sorry but that is the way it is” letter with a phone number to call the state senator to see if there are other assistance programs available.  Not quite what I was looking for. 

Today, less than a week later, I received a letter back from Senator Cornyn’s office:

“Thank you for your recent correspondence and for bringing this matter to my attention.  The decisions of the federal agencies have a direct impact on the lives of many Texans.  For that reason, I understand the iportance of this issue to you.  As your United States Senator, I am happy to offer my assistance.

However, the Privacy Act of 1974 requires me to have your written authorization before obtaining personal information from a federal agency on your behalf.  If you would like for me to proceed with a congressional inquiry, please complete, sign, and return the enclosed form to my office…It is a priviledge to represent you in the United States Senate.  I will await your response.”

How awesome is this!   I don’t know how a “congressional inquiry” proceeds and what exactly it means, but it has to mean something!

With the exception of Hannah’s bi-weekly cerezyme treatments, monthly visits to her pediatrician to keep tabs on her GD, and therapy sessions one to two times a week, Hannah hasn’t seen that many “white coats” in the past few months since we got the diagnosis.

That is going to change in a couple of weeks when we add these procedures:
1.  Swallow study, April 16.
2.  NeuroOpthalmology evaluation, April 2x?
3.  PET Brain scan, Michigan, May (more details later, very interesting)
4.  Lead genetics doctor — May/June?

And as I sit here writing this out, I know there is something important that I am missing…I’ll have to update this later!

Yesterday, I worked on yo-baby yogurt with Hannah for her two attempts at spoon feeding.  Though she didn’t cry or scream, she did NOT like it very much.  Though, I was able to finally get in about 1/2 the banana flavor in the morning and 1/3 of the vanilla in the evening.  It was a struggle.  She would NOT open her mouth for me.

Today, I tried baby-food peas and a fresh-smushed banana.   Nothing.  She refuses to open her mouth.  I think I will video tape our next attempt.  She literally and purposefully keeps her lips shut and looks away!  The only time I was able to get anything in when she would start babbling.  Then she figured out that trick.  She actually gagged on the banana, maybe it was too slimy?

So I decided to try another test.  I took the rest of the baby-food peas and put it in her bottle and used that instead of rice cereal with the formula.  Basically, a pea-flavored bottle.  OMG, she inhaled that thing!  Usually we stop her every 5 to 10 seconds to take a breath anyway (she usually puts away a 6-oz bottle in less than 10 minutes).  She kept pulling my hand back to her mouth, she loved that bottle!! 

Obviously, we are not dealing with a taste issue here.  It is definitely texture related or she is just being a stubborn girl.  Or a combination of both.   I think I’ll keep trying the spoon feeding twice a day like I am supposed to, but then if she doesn’t it eat, I’ll just replace the baby food with the rice cereal in her bottle. 

At least she is still getting the nutrients, right?

My wonderful neighbor coordinator a fundraiser with our local Chic-Fil-A, and they have agreed to donate 20% of all proceeds that night to help us fight for Hannah’s life. 

I went by there with Hannah and Abby yesterday, and I was able to meet Mica, the marketing director, who is organizing everything on that end.  It was so nice just to be able to thank her for everything she has done and to introduce her to Hannah and Abby.   She was such a sweet lady, and she even gave Abby a bright yellow balloon (which Hannah had been eyeing the entire time!).

Here are the details:
       April 7th, 5:00 PM to 8:00 PM
       Alden Bridge location, Research Forest and Kuykendahl
       MUST bring this flyer for the 20% to be applied

Please share this flyer with all of your friends.  You can even just send them the link at http://www.littlemisshannah.com/chicfila.doc 

Thank you, Chic-Fil-A, for really caring about our community and helping us fight for Hannah!

I haven’t been able to find out any more details on the press release from Neuraltus’ regarding their funding for a new Gaucher’s Disease treatment.  I could be wrong in assuming, but since they work in neurodenerative diseases that they must be working on something for type 2 or type 3. 

I have had no luck yet finding out.  There doesn’t seem to be a website for Neuraltus that I can find.  I have emailed two of the founders at their respective hospitals.  I have also emailed two of the venture capital partners.  I cannot find any contact information for the CEO they mention in the article, Ari Azhir.   I found a phone number for the company Azhir works for, but when I called it, it was disconnected (probably old).  I’ll give these emails a couple of days.  Then, if I don’t get an answer, I will start calling around. 

I just need to know if this is hope for GD2 or GD3… even if they can’t give me details yet, just let me know which GD it is for.  If anyone can help find out, I would so appreciate the assistance!