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.

Fundraiser on hold

After the huge success of the Chic-Fil-A fundraiser, I realized that there are so many, many wonderful people in this community who wish to help us fight for Hannah.  I haven’t talked to the manager there yet to finalize the numbers on the fundraiser, but what I was recently told today by a good friend more than tripled what I had originally thought in terms of money raised and people showing up with our flyers. 

We did hit a snag on the September fundraiser, the Walk/Run 5k, it seems.  There may be some red tape involved, and so a good friend and I decided that it would be best to take a step back and regroup and come up with a Plan B type of fundraiser if we need to.  Regardless of what we decide, we need to find someone who “knows someone” in the association (our city’s management group, we are a planned community) to let us know what we can and can’t do.  I think once we have the person’s guidance, then the rest will fall into place.

So for now, things are on hold.  But I’m not worried.  With the overwhelming amount of support and care we have received from our community so far, I know something will come together.

The Magic of a Photograph

Tomorrow is our last full day of vacation here in beautiful Southern California.  It has been a nonstop week of activity, and it has been such a great trip so far.  Easter egg hunts, Passover dinner, my parents party where I was able to catch up with a few old dear friends I haven’t seen in many years, swimming, etc.  Just a wonderful (and exhausting) trip.

I always took tons of photographs before Hannah.  I think part of the reason I started taking so many photos once we brought Ethan home was partly out of guilt (since we missed his first 14 months) and partly because my memory really sucks.  Friends and family mention stories that I was involved with and say “don’t you remember when…?”  Honestly, sometimes I don’t.  At least with pictures, I have a “hard copy” of that moment in time and will always be able to relive it and remember it.

I think I have taken over 250 pictures this trip so far, and we still have Disneyland left to go tomorrow, our last full day here.  Of course, about half of those will be junked pictures.  You know, back of someone’s head because they moved, blurry, etc.  But I will have dozens of wonderful photos of this trip with all three kids. 

It’s funny.  Well, “funny” is not quite the term I mean.  But I find it very ironic that I am so determined to get these pictures with me included in them even though I am at my “least attractiveness” in terms of how I feel about myself, especially my weight since I am at my highest weight ever.  I look at all those pictures, and I have two feelings about them.  1]  At least I was a part of that moment and that my kids can see who I was, and 2] OMG, do I really look that huge!  It is like a double-edged sword, you know?

After looking through the pictures on the camera tonight, I realized what wonderful memories I collected just from this trip.  Memories I hope never to lose, good or bad.  Even photos to motivate me to take care of myself better.  I can’t wait to download them and share (most of) them!

Niemann Pick Type C Treatment Could Deliver AIDS Breakthrough

I am so proud of Chris and her girls!  Chris, you are still and always will be my supermom mentor!  We love you guys!

Rare Disease Treatment Could Deliver AIDS Breakthrough
Thursday, April 2, 2009

OAKLAND — At Children’s Hospital in Oakland, researchers searching for the cure to a rare disease afflicting a pair of twin girls have discovered a startling ray of hope that may lead to a breakthrough treatment for AIDS.

Five-year-old Addison Hempel and her twin sister Cassidy are both stricken with Niemann Pick Type C Disorder, a rare and deadly disease that disrupts the metabolization of cholesterol.

The brain cells die because of it. They can’t process cholesterol, explained the twin girls’ mother Chris Hempel. They end up in wheelchairs. They can’t swallow. It’s fatal and there’s no treatment.

The first symptom was a swelling of their spleens. It was a cancer specialist who first noticed signs of Niemann Pick Disorder. The girls also started having symptoms of weakness and clumsiness similar to very early onset Alzheimers’. Niemann Pick is often referred to as “childhood Alzheimer’s” because of these similarities.

The lack of available treatment for the disease led the Hempels to search for a cure on their own. They went on the Internet and found a study that said it cured mice that were genetically modified to have Niemann Pick Disorder.

The treatment was a simple inexpensive sugary compound made from starch called Cyclodextrin.

The Hempel family took that research to their Doctor Caroline Hastings of Children’s Hospital in Oakland. With the twins’ condition rapidly getting worse, the Hempels knew there was no time to lose.

“We wanted to take the risk now, because our kids are deteriorating,” said Chris Hempel. “We don’t know what will happen. But I know it’s not going to hurt them, and we know in our mice that have the disease, it provides a big benefit. So why not?”

After receiving a special FDA exemption, Addi and Cassie are set to become the first humans to take Cyclodextrin therapeutically. Surgeons recently implanted intravenous infusion devices under the skin of each girl.

The hope for an even bigger benefit from Cyclodextrin treatment brought Nashville Doctor James Hildreth to Oakland. He studies HIV/AIDS. The connection between the two diseases?

“We made the discovery that cholesterol is required for HIV to be infectious,” explained Dr.Hildreth

The same compound that will hopefully drain cholesterol from the children’s brain cells – Dr. Hildreth has discovered – also drains cholesterol from the AIDS virus, killing it.

Collaborating with the Hempels, Dr. Hildreth is now working on an AIDS prevention based on Cyclodextrin.

“What’s really, really remarkable and got me so excited is here’s a substance that’s used by humans,” said Dr. Hildreth. “Millions are exposed to it every day. It’s exceedingly safe, but it can kill HIV. What more can you ask?”

The one-of-a-kind cholesterol trial for the twins will commence with a very low dose that doctors hope to increase steadily.

“What we don’t know about the drug is if it works,” said Dr. Hastings. “How much do we give and how frequently? We’re just starting with the protocol.”

The twins will get intravenous Cyclodextrin every week or so. Ultimately, doctors hope to develop a sort of portable pump that can deliver it directly, twenty four hours a day.

The twins’ are thrilled that the treatment might give their girls a fighting chance at surviving their battle with Niemann Pick Disorder.

“I feel such a relief to even have something to try that’s even a glimmer of hope,” said Chris Hempel.

The AIDS preventive, instead of being intravenous, could be a cream as cheap as ten cents a dose, that people worldwide could use.

“We hope to be doing trials in humans very soon,” said Dr. Hildreth.

Doctors say this collaboration could be a remarkable example of how smart use of basic research can save lives.

Copyright 2009 by KTVU.com. All rights reserved.

Come together…right now…over me…

Yep, I have that song in my head. And if you don’t know what that song is, then you aren’t as old as I am! :)

For the past three days, I have been working to find information on various GD23-related items from researchers, doctors, and other interested parties from multiple countries. Even though I have an incredibly long way to go, I feel like I have finally made some progress in learning what exactly is going out in terms of GD23 research and what I can do to help! I can’t go into details right now until things progress a bit, but you better be sure I’m knocking on every door imaginable!

And I am so pleasantly surprised at how wonderful many of the people who I have asked for information from have been! Especially Willy (you know who you are) who even offered to help with something I thought was an impossible request (even if he can’t find out!).