Hannah’s fight against childhood rare disease

Today is the World Rare Disease Day blog-hop, 30 days before World Rare Disease Day on February 29th.   Dozen of rare disease bloggers across the world are coming together to share our personal stories of how childhood rare disease has affected our lives.  (Please check out their stories below)

If you take a look at the statistics about childhood rare disease, the numbers are mind boggling.   The ones that hit home for me were these.

• There are only about 50 children in the U.S. (few hundred world wide) with her form of Gaucher’s Disease, that is it!   Extremely rare even by rare standards, which is a disease affecting less than 200,000 people.
• 30% of children with a rare disease will die by their 5th birthday.     Hannah was 3.
• 75% of the 7000 rare diseases affect children.   Hannah.
• Almost 80% of rare diseases are genetic in origin.   Neuronopathic Gaucher’s Disease, Hannah.

When Hannah was first diagnosed at 5 months old, there was so very little about nGD out there.   It was like finding needles in a haystack just to find any information we could sink our teeth into.   But there was something about Hannah that made her family and I just want to fight like crazy for her.   We wanted the people who could help her the most, the researchers and specialists, to be reminded of the faces behind this horribly rare disease.   In our drive for awareness and answers, Hannah became one of the poster children for life-limiting rare diseases.

As I promised Hannah at her funeral service last month, ”Because of you, other families will be empowered to fight for their children.   Because of you, doctors will have more compassion and resources when working with children with rare diseases.  Because of you, communities will come together for reasons they never did before. ”

We are going to continue to fulfill this promise to her by actively helping other families with young child diagnosed with life-limiting rare diseases in Hannah’s name with our Little Miss Hannah Foundation at http://www.littlemisshannah.org.

It is amazing what one little girl has accomplished in the fight for rare disease awareness in her short life.   To my Hannah:  ”One of your biggest gifts, one of the reasons I believe that we were blessed to have you as our daughter, is the awe-inspiring changes you have made in the world.   What you have done in three short years, most people, including myself, could never do in a lifetime.  You have opened so many peoples eyes, from physicians to friends to strangers, and shown how important it is to fight for children like you, ones for whom today’s medical advances do not have a chance to save.”

The more people who learn about these specific childhood rare diseases, the more they will come to love these children affected by and realize that they desperately need more people fighting for them.   There are very few rare diseases with celebrity spokespeople, millions of dollars in foundations, or rare diseases that are a household name where anyone would know what they are.

Before Hannah, thousands never even heard of Gaucher’s disease or have ever met and fallen in love with a child who would lose their life to a rare disease.

But because Hannah was here, because she fought so hard, all those people that loved her will continue to fight against life-limiting childhood rare diseases in her memory.

I love you, my little miss Hannah.   The world is forever changed because of you.

Be at Peace, Cooper Wilson

I’ve been following Cooper and his family for months now.  Cooper was diagnosed with GM1, another lysosomal storage disease.  He had just turned two a few days earlier.   

“Cooper peacefully earned his wings this afternoon as the three of us sat on the swing outside. We were talking and rocking, and he just decided it was time. We are so thankful that he chose the time and place. It couldn’t have happened that way if we’d planned it… just as it should be.”I have read this dozens of times now, and I just keep thinking to myself…I can’t even allow myself to type the words.  But the peace and tranquility of his passing is something that…if it has to happen… you know…

Be at Peace, Gage Pruitt, beautiful boy…

Gage passed away.   I feel like my heart is being pulled from my chest right now.  He had Wolman’s disease, another lysosomal storage disease like Hannah’s.  His mom and dad fought so hard for him, so damn hard.  Mary, I wish I could just give you a hug right now, be there for you.

Positive thoughts for Gage…

I met this mom a couple of months ago online.   Her son, Gage, suffers from Wolman’s disease, another lysosomal storage disease, that is even more rare than neuronopathic Gaucher’s disease.  

Gage had a stem cell transplant a few months ago, and he had seemed to be doing well.  Unfortunately, he has become very ill, and they received some distressing news after his brain MRI.

Babies are true fighters, and I truly believe in the power of positive thinking.  So please keep little Gage in your thoughts and prayers and give him the extra fight he needs to get through this.

http://gagepruitt.blogspot.com

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.

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.

I’ve become a special needs local blogger…

I’m very excited about this new writing “gig” I got.  It doesn’t pay anything really, but I thought it would be good exposure not only for Hannah, but it would give me a chance to help other local families by sharing their stories, providing information on upcoming local events and conferences, and become a stronger advocate for families of special needs childrens (for example:  sharing HR5748, the Ryan Dant Healthcare Bill).

Check me out – http://www.examiner.com/x-3597-Houston-Special-Needs-Kids-Examiner 

As London on the Suite Life of Zach and Cody says — Yay Me!  (Sorry, only Disney Channel watchers would get that…)

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