Saturday, May 28, 2022

A Little Girl From Beirut

July 4, 2008 by  
Filed under NPC Family Stories

Sawsan Moubarak is 8 years old and lives 45 minutes South of Beirut, Lebanon, in a town called Zefta, District, Nabatieh.

Her father, Jason, is an inspiration for all parents, especially me.  His wife gave birth to Sawsan and passed away in childbirth and he takes care of Sawsan and two other children; a girl, 13, and a boy, 10.   “After Sawsan showed symptoms of NPC, you can imagine how my life turned around, especially with her mother not here.  Words cannot describe the agony and sadness I am going through,” he told me.

Sawsan is now on Keppra 500 twice a day.  She has many, “narcolepsies and cataplexies: 5 to 6 times a day.  And seizures too, even with the Keppra, she has them once a week.”

Coriell Institute: The Value of BioBanks To Further Medical Research

June 11, 2008 by  
Filed under Genetic Testing

Coriell tank in use
I had never heard of the term “BioBank” or biorepository until my 4 year old identical twins, Addi and Cassi, were diagnosed with a fatal disease called Niemann Pick Type C, otherwise known as the “Childhood Alzheimer’s.”

Since receiving this nightmare diagnosis, I have become familiar with many organizations I had no idea existed, including an nonprofit research organization called the Coriell Institute based in Camden, New Jersey.  Coriell is a leading biobank that is funded by the NIH and they are dedicated to understanding human genetic diseases.

Coriell collects human biospecimens from people with all types of diseases ranging from Epilepsy to Parkinson’s to Rett Syndrome.   As scientists study the connection points between genes and diseases, they are finding many diseases have complex patterns of inheritance.

I have submitted Addi and Cassi’s “biospecimens” — things like tissue and blood samples — to Coriell which are now being analyzed and stored in tanks.   When researchers are interested in studying Niemann Pick Type C diesase, they order biospecimens from Coriell so they can try and understand the molecular characteristics and clinical progression of the disease.    Once Addi and Cassi’s NPC mutation is fully analyzed, it is given an anonymous number and will be represented by a red dot on Chromosome 18 and can be ordered from Coriell.

Addi and Cassi’s DNA will essentially live on forever in these tanks and my hope is someday their DNA will help solve something researchers have not thought of yet.  Maybe their identical twinship will prove even more important to understanding disease than the genetic disease they were born with?  Who knows, but it’s interesting to think of the possibilities.

Cures for human disease can only happen faster with biobanks providing researchers with critical genetic material.  I am eternally grateful to the NPC families who have already contributed to Coriell’s biobank.   Most of these NPC children have passed away but they live on through current research work and they are now trying to help save Addi and Cassi’s lives.

I hope people who have the opportunity to provide samples to biobanks like Coriell will do so in the future and without fear.  The good news is that the newly enacted genetic discrimination law (GINA) bars health insurers from using genetic information to make coverage decisions.   Many Americans have been reluctant to take advantage of breakthroughs in genetic testing for fear of “genetic discrimination” and that the results could deny them jobs or health insurance.

ReThink IT Video: A Story About Alzheimer’s

June 3, 2008 by  
Filed under Opinion, Videos

An Alzheimer’s video I made for the 2008 election.

Terry Fator Performs To Help Find a Cure For Kids with “Childhood Alzheimer’s”

May 19, 2008 by  
Filed under Videos

America’s Got Talent winner and ventriloquist Terry Fator (the $100 Million dollar voice performing at the Las Vegas Mirage!) performed at our Reno fundraiser to help cure “Childhood Alzheimer’s.” Watch a hysterical video clip of Terry Fator singing a Sonny and Cher duet, “I’ve Got You Babe,” with Reno Mayor Bob Cashell.  May 2008.

Former American Idol Melinda Doolittle Sings “Be Blessed” To Help Kids With Deadly Dementia

May 10, 2008 by  
Filed under Videos

On May 10, 2008, we hosted our 1st annual benefit to cure Niemann Pick Type C. Over 1000 people attended the "The Moonlight Garden Gala" gala event held at the downtown Reno Ballroom. Supporters were treated to outstanding performances by former American Idol singer, Melinda Doolittle, and America’s Got Talent gifted ventriloquist, Terry Fator. Listen to Melinda Doolittle performing the song “Be Blessed” for NPC afflicted children – it was a very emotional moment for all!

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