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…

Hannah and Mommy

Hannah and Mommy



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: