Archives for April 2009

So, where do we go from here…

2 Apr by Mommy

I have so much going on right now that even slowing down to try and think of it all, my head is going to melt down.  So, I’ll just throw them out there.

1.  Because Hannah’s mutation combination has never been seen before, there is no way to determine if she is type 2 or type 3.  However, because she does have the mutation of D409H, literature has described this to be associated with cardiac problems so Hannah’s neurologist recommends that she should have a cardiac echo. He also recommends a brain MRI should be done at some point soon as a baseline. 

He also suggested to do a special skin biopsy study to try to differentiate between type 2 and 3. This may be the best way.  I contacted the geneticist at the National Institute of Health (NIH) he recommended, and we will take it from there.

2.  I heard from Dr. Ari Azhir from Neuraltus, the company that put out the press release last week regarding a possible new Gaucher’s drug.  Basically, she never did confirm it was for type 2 or type 3, but she did say “We understand that the drugs we are working on are of the greatest importance to you.”  So, I’ll just still HOPE that it is for GD2 or GD3.  She said she will keep in touch with me on their progress and, when they are ready, we will see if Hannah fits their criteria for a clinical trial.

3.  I need $500,000.   No, that is not a typo!  After the success Chris had with the NPC discovery below, I want to be able to put together a research team instead of just relying on a team that has been put together for multiple issues.  We need one team of researchers dedicated to thinking “outside the box” (as they did with NPC) and come up with SOMETHING for GD2 and GD3 either entirely new or to assist those few researchers out there who are actually working on GD2 and GD3.

But for now, I’ll keep working on my $10,000 goal by July 25 ($6600 to go) to help get the “mouse” finished so that researchers can start testing their ideas.    At least once we have that mouse that will be a HUGE step forward for GD2 and GD3 research!

~ Filed Under: Hannah's Fight

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

Improved Metabolic Correction in Patients with LSD Treated with Hematopoietic Stem Cell Transplant

2 Apr by Mommy

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
Robert F. Wynn, MD, J. Ed Wraith, FRCPCH, Jean Mercer, Anne O’Meara, FRCPI, Karen Tylee, BSc, Margaret Thornley, Heather J. Church, PhD, Brian W. Bigger, PhD

 

Received 22 July 2008; received in revised form 12 September 2008; accepted 3 November 2008.

We compared substrate reduction in patients with lysosomal storage disorder treated with hematopoietic stem cell transplant and found that it was significantly reduced compared with patients treated with pharmacological enzyme replacement therapy. These data might support the wider application of hematopoietic stem cell transplant in the treatment of lysosomal storage disorders.

~ Filed Under: Gaucher's Disease

Be careful what you wish for…

1 Apr by Mommy

Remember last week I said I wasn’t sure if I wanted to know the results of Hannah’s DNA sequencing? I guess “someone” heard me because, according to Dr. Schiffmann, one of the top GD23 neurologist, there is NOTHING in the literature that matches Hannah’s DNA mutation combination. NOT ONE PATIENT! He is going to ask his colleagues for their input as to how they think this will affect her, but for now, we are “inconclusive” on the type of GD she has and what her prognosis is.

The second mutation is common with type 3, one of the most severe types of type 3 (when combined with itself). However, we have learned that when combined with another mutation (such as in Hannah’s case), it can be type 2 or type 3, as it takes on a whole new identity.

So at this point, we don’t know what type she has. We may not know, especially if we are walking in unchartered territory now.

Always knew Hannah was a unique girl…

~ Filed Under: Hannah's Fight

DNA Sequencing Results in but…

1 Apr by Mommy

So the DNA sequencing results are in. Hannah’s genetics doctor couldn’t give us a “type”, however. She did give us confirmation of the first DNA mutation and gave us the second mutation as well. I’ve sent those off to Dr. Schiffmann, Hannah’s neurologist, to see if he could give us a “type” and the prognosis of other patients with this combination. We do know that this second mutation, very rare, is one of the more severe neuro types apparently (from what Hannah’s genetics doctor said), but we really have to see how it pairs with the other one (which we know is a type 1 mutation) to get an idea.

Dr. Schiffmann has been awesome at returning emails, so hopefully I will hear back from him tonight or tomorrow…

~ Filed Under: Hannah's Fight

Hannah’s first noticable lack of ability

1 Apr by Mommy
Fisher-Price Rollin Around Jungle Playground
Fisher-Price Rollin’ Around Jungle Playground

I’m in a down mood right now.  We know that Hannah has “abnormal eye movements” with her supranuclear gaze palsy and lack of saccadic eye movements (ability to follow rapid eye movements). 

But today, I really got to experience how the “lack of ability” (I’m not comfortable with “disability” yet) really affects her. 

We bought this toy a couple of weeks ago.  Basically, the three animals go down the curling slide with music.  We thought it would be a fun toy because she loves placing things on other things. 

However, we realized that when we put the toy on the top and let it go down the slide, her eyes stay stuck at the top, and she can’t watch the toy go down the slide because it is too fast for her.  If we do it by hand, very slowly, she will watch it go down.  But if we just let it go down by itself from the top, she can’t follow it.

How many things is she going to miss out on because she can’t follow something?   There are so many things that move faster than slower in life.  Watching or playing sports, so many different toys where things “fall down”, even playing rolling the ball when she is a bit older. 

I’m just sad…

~ Filed Under: Hannah's Fight
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