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

21 Apr by Mommy

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

~ Filed Under: Rare Disease

Niemann Pick Type C Treatment Could Deliver AIDS Breakthrough

2 Apr by Mommy

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.

~ Filed Under: Random Thoughts, Rare Disease

Jordell…The beginning

16 Mar by Mommy

Guest post by Nichole, Mom to Jordell with Gaucher’s Disease type 3

jordellJordell was always a normal little boy but seemed to have a big tummy and was sick alot. All the doctors said it was normal and he would just grow into his tummy. When he went for his 18 month check up I asked the doctor once again and he felt it and knew that something wasnt right so Jordell had an ultrasound 2 days later and they found out he had a very massive spleen. They got him into Blank Childern’s Hospital in Des Moines, Iowa.

They wanted to wait a few months but when I got on the computer and looked why someone would have an enlarged spleen everything pointed to leukemia. As any worried mother would do I fought my hardest to get him in as soon as possible so they got ahold of the doctor and wanted to see him the next day. So we traveled the 2 hours that night and got right in the next morning.

They did a bone marrow biopsy and the doctor told me that we wouldnt go home untill he could tell me whats wrong with him. So went had to stay in the hospital and I was very nervous all day and finally he came in and told me that Jordell had leukemia, my heart sank. Right away we started talking about Chemotherapy. Jordell had surgery on Feburary 22, 2008 to have a port placed in his chest and got a dose of interthecal chemotherapy. He was going to start Chemo that night but then the doctor came in and said they didnt think he had leukemia.

After that they ran more tests and everything came back negitive. The doctor then got ahold of another doctor in Rochester, Minnesota and thought they could find out what was wrong so we went by ambulance 3 and a half hours in the snow and ice. That was not a fun ride! When we got there, right away they started running more tests. I have never seen so many doctors in my life, I think there was every kind of doctor you could ever think of come in and out of his room. They decided to send us home since in was Friday and they couldnt really do much over the weekend but we had to come back Monday. But we were very excited to go home and sleep in our own beds for a couple nights!!

So we went back Monday and did some more tests and found out other ones came back negative. Still confused about whats going on. We went home Tuesday the 4th and had an appointment for Friday the 14th set up in Iowa City, Iowa and hopefully by then we would know what it was that was wrong.

On March 13th I got a call that said Jordell had Gaucher Disease. They werent sure what type yet but I was relived to have a diagnosis but also scared because I didnt know much about Gaucher Disease. Thankfully we went to Iowa City the next day!

~ Filed Under: Gaucher's Disease, Rare Disease

Greyson’s Gift – Texas Newborn Screening Law Changes

9 Feb by Carrie

I met this family online a few weeks before her beautiful little boy, Greyson, passed away from Krabbe’s disease.   Her situation not only makes me sad because her Greyson passed away before his first birthday, but it also makes me mad because his death could have been prevented, as Krabbe’s disease is treatable if caught early enough.  Many states test for Krabbe’s disease in their newborn screening group, but for whatever lame reason, Texas does not.  She wants to advocate change for all children born here in Texas, and I will do whatever it takes to help her make Grey’s Gift a reality.

~ Filed Under: Rare Disease

Be at Peace, Cora McClenahan

9 Feb by Carrie


I have been following Cora’s family blog since her neuroblastoma (cancer) diagnosis a two short weeks ago.  When I read their blog tonight and found out that she had passed, I just lost it.  I remember seeing Cora’s pictures from the past couple of months, and there are so many of the same pictures that I have with Hannah, same pose, same smile, same love in her eyes. 

My heart is breaking for her family, and I had a mini-freak out because that could be us. 

Please keep her family in your thoughts – http://themcclenahans.blogspot.com

~ Filed Under: Rare Disease

Special Kids: Elizabeth

3 Feb by Carrie

Elizabeth born on September 29, 2003 and diagnosed with Spinal Muscular Atrophy (SMA) Type 1 when she was 8 months old. Her family lives in Pontiac, Illinois. She is a smart, beautiful child a very special child.  She participated in a clinical trial at Stanford  under the direction of Dr. Ching Wang . 

She an inspiration to children like her all over the world.

She sees a very good SMA doctor in Madison, WI,. Dr. Mary Schroth. She uses the NIV protocol that helps keep Elizabeth’s  lungs healthy and the best doctor there is for these kids in her grandmother’s opinion.

SMA is a genetic disease in which many physical abilities, such as sitting independently, crawling, swallowing, and even breathing are affected. The brain and mental abilities are NOT affected; in fact many people with SMA have above average intelligence. 

More info about SMA and Elizabeth – www.our-sma-angels.com/elizabeth

~ Filed Under: Rare Disease
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