Undercover Boss and MPS (Sanfilippo Syndrome)

Did you catch Undercover Boss last night?  The one with the CEO of Mack Trucks?

We were watching it last night with the kids, and when it showed that little snippit preview of the grandfather talking about a disease where his kids are “missing an enzyme,” Daddy and I just stopped in our tracks.   We both looked at each other like, “WHAT?!”

After all, Hannah’s disease is exactly that.  She is missing the enzyme needed to break down fats in her body.

It turns out that this grandfather had two grandkids with MPS III (Sanfilippo syndrome), which is in the same family of diseases as Gaucher Disease.   Where as Hannah is missing the enzyme to break down fat in her body, MPS III is missing the enzyme to break down mucopolysaccharides in the body.

When the grandfather said that they needed 24-hour care, my heart just started racing.

That man understood what our life with Hannah is like.  Hannah also needs 24-hour care, someone always there to keep an eye on her whether she is awake or asleep.   Watching your child’s life deteriorate every day, nothing you can do about it, with very little research on the horizon to provide even a treatment.

Even though it wasn’t Gaucher’s disease mentioned, the amount of national awareness for any diseases in our lysosomal storage disease family is a huge welcome.

Texas Parent 2 Parent Conference

Wow!  What a whirlwind 48 hours!

We are still in Austin tonight.  The conference just ended a few hours ago, but we decided to stay an extra night so we didn’t have to drive home late at night and exhausted.  Good call on our part, huh?   I think so!

I’m so glad we came.  I really am.  We went to quite a few informative sessions including legislative outcomes of special needs legislation from the last session, discussing how we all deal with grief, learning how to navigate the MDCP, CLASS, and other financial and equipment assistance that the state provides, and a few others that are slipping my mind at the moment. 

I met SO MANY wonderful new people, all parenting a child (or children) with so many different types of special needs.  I didn’t meet anyone else who was parenting a child with a life-limiting or rare disease, but I still felt a common bond with many of the people I met. 

Ethan and Abigail had a great time in their respective child-care rooms.  They were just suites that were reserved for certain age groups.  Abigail made a “new best friend” for the weekend, this 6yo girl who lives about 3 hours from us.  They were joined at the hip.  On Friday night, at the family dinner party, they were holding hands, and hugging, and just being so girly!  It was adorable.  Ethan didn’t make any “friends,” but he did have a good time. 

Even though neither Ethan nor Abby has made any comments about meeting so many children with so many different types of special needs (including Cerebral Palsy, Autism, Down Syndrome, etc) and different types of assistive equipment (wheelchairs, oxygen, etc.), I know that exposure to these children as just “regular kids” was so good for them.  Questions may come down the line, and we will deal with them at that time.

Tomorrow we are going to explore Austin a little bit, and then we are going to head back home and start getting ready for a jam-packed July!

I can’t wait until next year’s conference!

Alec Baldwin – Lyso what?

Neuronopathic Gaucher’s Disease is a lysosomal storage disease…

Even sleeping, she is just adorable!

Hannah has been sleeping in her crib for about 6 weeks or so now.  Between my video monitor and our movement sensor, I feel quite comfortable having her in there now.  She was just getting way too big to sleep in her pack’n'play overnight.  She would roll around, and she is longer than the width of the pack’n'play now!  I know, I know — it is better for her anyway.  Much more comfortable.

Last night, I was watching my monitor of her, and she just looked so adorable.  So, at midnight, I took this picture with my phone.  

Pictures of my beautiful Hannah!

Just was in the mood to share some recent pictures of my amazing, sweet, charming, and always smiling little girl.   You would never know that she has a fatal rare disease that is threatening to take her away from us in a year or few…

Grey’s Gift — Texas, support a common-sense law!

This is a guest post from Nicole, Greyson’s mom.  Greyson lost his battle with Krabbes disease a few months ago at 11 months old.  His life could have been saved if the state of Texas screened Greyson at birth for Krabbes.  He could have been treated, and he would still be here today if he was!  Greyson’s parents are fighting to get the Texas newborn screening laws changed.  They need our help!

HB 1795 passed unanimously in the House today!

However, Lt. Gov. Dewhurst placed it on the Intent calendar in the Senate due to it’s fiscal note, which now includes CF. He has decided to put it up for debate on the Senate floor tomorrow. Please show your support of SB1720-Greyson’s Law by emailing or calling Lt. Gov. Dewhurst before 11 am.

 You can contact his policy advisor at:
Jamie.Dudensing@ltgov.state.tx.us
(512)463-0001.

Take Action for Me: Please send this letter to your reps!

Remember back in January when I wrote THIS LETTER in support of the Ryan Dant bill?  Well, the HR number has changed, but the importance of this bill has not.

Please, please, please just take a moment to send this letter off either via snail mail or email to your local congress and senators.  It is so very important!!  http://www.gaucherdisease.org/senator_congressman_cosponsor_letter.doc

Read more about the bill here:  http://www.gaucherdisease.org/legislation_ryan_dant.php

Dear Gaucher Community:

I would like to make you aware of a piece of legislation that not only affects the Gaucher population, but individuals with other rare diseases.

On April 9, 2008, Congressman Kenny Marchant (R-TX), introduced H.R. 5748, the Ryan Dant Healthcare Opportunity Act of 2008. This Bill is named for a constituent, Ryan Dant, who is in Congressman Marchant’s district and suffers from an extremely rare congenital disease. Ryan’s prescription drug costs are close to $500,000.00 annually. Ryan will soon exhaust the lifetime maximum of his private healthcare insurance. When this happens, he will have no choice but to enroll in the Medicaid program for the duration of his life, so that his lifesaving medication will be covered. This will greatly limit his earning capacity.

H.R. 5748 provides an alternative to individuals facing a similar situation, by allowing a Medicaid state option that would permit individuals to be released from the qualifying earnings restrictions. This legislation would apply only to individuals who pay more than $250,000.00 per year in prescription drug costs and have exhausted at least $1,000,000.00 in private insurance coverage.

As with any piece of legislation, it takes the efforts of thousands of individuals to bring it to fruition. The National Gaucher Foundation is committed to doing everything possible to see H.R. 5748 passed.

I am asking you to please join with me and Mark Dant, Ryan’s father, in mobilizing our forces. I have always been so proud of how the Gaucher community pulls together to not only help each other, but others in need as well. Inside, you will find sample letters and contact numbers for both your Legislators and members serving on the Health Sub-Committee. I urge you to please contact these individuals, as well as, distribute this information to anyone you know who could assist us. Time is of the essence! We need to move on this as quickly as possible!

Sincerely,

Rhonda P. Buyers
Ceo/Executive Director
National Gaucher Foundation

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