Archives for April 2009

Gaucher’s Disease and Related Websites

4 Apr by Mommy

Gaucher Organizations:
Children’s Gaucher Research Fund – http://www.childrensgaucher.org/

NGF – http://www.gaucherdisease.org
NORD – http://www.rarediseases.org
NTSAD – http://ntsad.org
NFJGD – http://nfjgd.org
Canadian Society for Metabolic Disease
Gaucher’s UK – http://www.gaucher.org.uk
March of Dimes – http://www.modimes.org
NGF of Canada – http://www.gaucher.org

Other Sites to Check Out:
Medline Plus:  http://medlineplus.gov
NIH – http://www.ninds.nih.gov
National Center for Biotechnology Information – http://www.ncbi.nlm.nih.gov
Healthfinder – http://www.healthfinder.gov
Entrez – http://www.ncbi.nlm.nih.gov/Entrez
National Center for Complementary and Alternative Medicine – http://nccam.nih.gov
Genome Reference Consortium – http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc
National Health Information Center – http://www.health.gov/nhic
DIRLINE – http://dirline.nlm.nih.gov

~ Filed Under: Gaucher's Disease

If you want bi-weekly Hannah updates via email

4 Apr by Mommy

I have had a few people ask if I could put something together where they didn’t have to visit the blog all the time to get updates on Hannah.   So I am putting together an email list for those of you who want me to email you an update on what is going on with Hannah every 2 to 3 weeks.  If you are interested, just add your email below!

~ Filed Under: Hannah's Fight

National Institute of Health update

4 Apr by Mommy

I have had so many wonderful comments on my post below regarding whether or not to bring Hannah to the NIH.  There is just so much to think about.  The truth is, we already have the best of the best neurologists for Hannah, who actually used to be at the NIH.  Dr. Sidransky even admitted that there isn’t a lot more we could get from her in terms of learning how to treat Hannah because she has such top-notch doctors.  It would be more for their research benefit because Hannah is just so unique.  But having someone like Dr. Sidransky involved in Hannah’s case would be a huge benefit because she is just so well versed on GD23.   THAT would be the reason we would go.

We are leaning towards going there.  We have to figure out money for Abby and Ethan to fly out there.  My aunt and uncle live in DC, possibly very close to the NIH, so I am going to ask them if maybe they would be able to keep the kids during the day for the testing or maybe Daddy could take the kids and explore DC while I am at the hospital with Hannah.  Daddy has to go, because they want to do some DNA testing on us as well.  When we told Ethan we may be going to DC, he almost jumped out of his chair and said “Can we go to the White House?!”  (They have been learning about government in school LOL).

Another part of the problem is that we will be going to Michigan in the beginning of May for a specialized brain scan for Hannah.  I can’t share details now, but as soon as I get permission, I will.  It is just for research purposes, but it has never been done on a Gaucher’s 2/3 patient before. 

Daddy can only take off so much time for work, and he definitely does not want us to go to Detroit by ourselves LOL.  He’s protective that way.

Also, Hannah has SO many different tests coming up besides the specialized brain scan including a brain MRI, echocardiogram, ultrasound, swallow study, neuroopthalmology exam, and I know there is something else I am forgetting.  And this is all within a 1- to 2-month period.  Not to mention she still has her Cerezyme treatments every two weeks. 

Just a lot to think about…

~ Filed Under: Hannah's Fight

Hannah’s Bloggy Giveaway Winners!!

4 Apr by Mommy

Over 100 entries to Hannah’s Giveaway, thanks to these wonderful donations!  If you are a winner, please email me with your details (address, email, etc.) so I can get your prize delivered to you!!

 Thank you all for participating!!!

~ Filed Under: Hannah's Fight

New therapy helps boy with rare disease

4 Apr by Mommy

New therapy helps boy with rare disease

CHICAGO (Reuters) – A drug used to suppress the immune system in cancer and rheumatoid arthritis has helped extend the life of a Minnesota boy struggling with a rare and deadly form of the genetic disorder Pompe disease.

A team of researchers led by Dr. Nancy Mendelsohn of Children’s Hospitals and Clinics of Minnesota used a novel treatment plan using Rituxan, or rituximab, a drug used for non-Hodgkin’s lymphoma and rheumatoid arthritis made by Genentech Inc and Biogen Idec.

Rituxan is a monoclonal antibody, a genetically engineered immune system molecule. The team used Rituxan in combination with the rheumatoid arthritis drug methotrexate and intravenous gamma globulin, in a bid to damp down the child’s immune response.

“It seems to have worked,” said Mendelsohn, who chronicled the child’s case in the New England Journal of Medicine on Wednesday.

Pompe is an enzyme disease, and many of its youngest victims lack a gene that makes alpha-glucosidase or GAA, which is needed to break down glycogen, a stored form of sugar.

The resulting build up of glycogen damages the muscles, especially the heart and skeletal muscles.

Older Pompe patients often respond to enzyme replacement therapy, but many infants with the “CRIM negative” form of the disease quickly make antibodies to the enzyme and rarely see their first birthday.

Not so for Ira Brown of Minneapolis, whose symptoms first appeared at around five weeks of age.

Stymied by the poor prognosis of infants who develop the genetic disorder, Mendelsohn and colleagues decided to try suppress the child’s immune system to allow him to respond to the enzyme replacement treatment.

At 2-1/2, Brown is now the oldest survivor of the CRIM negative form of the disease.

Mendelsohn is hopeful the treatment will induce tolerance to enzyme-replacement therapy, so the Rituxan may one day be discontinued.

She said the treatment approach is being tried on other children and thinks it may work for other diseases, including hemophilia A and B, Gaucher’s disease and Fabry’s disease.

~ Filed Under: Gaucher's Disease

National Institute of Health wants to see Hannah

3 Apr by Mommy

I talked to Dr. Sidransky at the NIH, and she sounds like a very impressive and passionate doctor.  She has been studying GD2 and GD3 for many, many years.  They really want to see Hannah since she this new mutation is pretty rare and never seen in combination with the 84gg.  Because the D409H carries cardiac problems associated with it, she agrees that we need to have an echocardiogram for Hannah as well as check for minor hydrocephalus.  They also want to do the skin biopsy to see if they can tell type 2 or type 3 as well as a couple of other studies.

The problem is, we would have to be there for 3 days.  Granted, the trip would be fully paid for, but that is three days that Ethan and Abby would be without us, most likely in May or June.  All of the testing she recommended can be done here at Texas Children’s Hospital, and we could send the results to them with the exception of the biopsy, which is a maybe (depending on how TCH acquires their biopsies or something).  But she admitted they really want to see her in person, do our DNA, etc., for research purposes. 

I keep thinking, maybe she holds the key to this disease somehow?  But then I keep thinking “why would she be so special as to hold the key?”  And then I go back to Abby and Ethan.  They wouldn’t pay for them to go with us to DC.  Do we want to leave them alone for that long with neighbors?  

We aren’t in a rush, but she asked to let her know early next week what we want to do…  What would you do in this situation?

~ Filed Under: Hannah's Fight
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