Sunday, November 19, 2017

Stem Cells For Dummies: The Controvery, Pros and Cons, Facts, Future Research

January 27, 2010 by  
Filed under Featured Stories, Stem Cells

Stem Cells for Dummies CoverOk, I admit it. I am a Dummie!  Especially when it comes to Science!  I do hold a Bachelor of Arts in Political Science from Berkeley but it’s not exactly the type of “Science” degree you need when your children are dying from a rare cholesterol disease that causes dementia.

All of a sudden topics like gene therapy and stem cells are very important topics in our household as research into these areas could lead to life-saving treatments for our twins.   But learning complex scientific topics like stem cells can be intimidating to many people.

Dr. Larry Goldstein, professor of cellular and molecular medicine and director of University of California San Diego’s stem cell program, has written a book in plain English on stem cells called Stem Cells for Dummies. The book is intended for anyone who wishes to learn more about stem cells, where they come from and the potential use of stem cells in medical research and in treating disease.

What is the difference between Embryonic stem cells (ESCs), Adult stem cells (ASCs) or iPS cells (Induced Pluripotent Stem Cells)?  What are the many objections to stems cell use in research and why is it such a highly controversial topic?  The book is written for the layperson, doctors or even someone in the medical research field who is not familiar with stem cells.

Stem cell derived neurons will someday allow scientists like Dr. Goldstein determine whether breakdowns in the transport of proteins and  lipids within cells trigger the neuronal death and neurodegeneration that is a hallmark in Alzheimer’s and Niemann-Pick Type C disease.

Stem Cells for Dummies is a fantastic book that allows anyone to brush up on basic biology and learn about critical stem cell research at the same time. You can read the index of topics here. Learning about stem cells today could be life-saving for you or someone you love in the future as the world moves closer to regenerative medicine.

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Nothing Bundt Cakes for Nothing Bundt Beautiful Birthday Girls

January 26, 2010 by  
Filed under Featured Stories

Twins-Ice-Cream-Cone-Cakes

Addi and Cassi turned six years old on Saturday. Over two years ago when the twins were diagnosed with Niemann Pick Type C disease, I was not sure they would still be with us today. Our little angels are amazing fighters and doing very well on their cyclodextrin infusions.

Here is the ice cream cone cake Grammy Helen and Mommy put together to celebrate their birthday milestone.  We purchased the bundt cakes at Nothing Bundt Cakes and used ice cream waffle cones from Williams-Sonoma and a fun plate and streamers to top it off.

Addi and Cassi normally don’t ingest much cholesterol but this cake was surely loaded with eggs, milk, butter, etc.  A big birthday treat!

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Extraordinary Measures Inspirational Quilt – Help Niemann Pick Type C Families Win 10K prize By Voting Today

January 16, 2010 by  
Filed under NPC Family Stories

Five families with children suffering from Niemann Pick Type C disease have posted their touching videos on the Extraordinary Measures Movie’s Inspirational Quilt. They are running a contest on the movie’s website and the winner of the video contest will win $10,000 to be donated the charity/foundation of choice. The chances of winning increases with the number of votes the family receives. The Hadley’s and Hempel’s have also posted our videos — please vote for all videos and we all will be entered into a larger pool to win the $10k prize.

Hadley Hope Videohttp://extraordinarymeasuresthemovie.com/?videoId=212
HempelFamily Videohttp://extraordinarymeasuresthemovie.com/?videoId=193

I really love the words to the song written for Elise Marie Barton, a little girl who suffers from Niemann Pick Type C disease like Addi and Cassi. You can watch the video here – http://extraordinarymeasuresthemovie.com/?videoId=201 – and vote to help all NPC kids.

‘Elise Marie’ by Billy Johnson (Album: ‘It’s a Good Life’ – 2009)

I know a girl named Elise Marie
She’s a baby, she’s just three
Though she’s got a real bad disease
She’s as courageous as she can be

I know a girl sweet like a cherub
Big beautiful eyes
She got skin like porcelain
And a sweet, sweet smile

I know a girl, life ain’t easy
But she got the love of so many people
I know a girl gonna keep on tryin’
Cause hope is on the horizon

Hope is on the horizon
Hope is on the horizon

I know a girl, tough as nails
She take a hit like a champ
She might stumble, she might fall
But she get back up again

I know a girl, life ain’t easy
But she got the love of so many people
I know a girl gonna keep on tryin’
Cause hope is on the horizon

Hope is on the horizon
Hope is on the horizon
Hope is on the horizon

I know a girl named Elise Marie
Love will last for eternity
I know a girl named Elise Marie
Love will last for eternity, for eternity

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Family of Twins with Rare and Fatal Cholesterol Disease To Seek FDA Approval To Deliver Cyclodextrin Into the Brain

January 15, 2010 by  
Filed under Cyclodextrin, Cyclodextrin News

Addi-Full-Chest-Abdomen-Scan

The tagline of the new movie, Extraordinary Measures, about John Crowley’s fight to save his children from the rare and fatal Pompe disease is….Don’t Hope For a Miracle – Make One!

We are now working on making our own miracle  – a new compassionate use investigational new drug (IND) protocol and application that we plan to submit to the FDA by April 2010. We are seeking to add intrathecal and/or intraventricular cyclodextrin delivery into Addi and Cassi’s brains to treat Niemann Pick Type C disease.

We realize this sounds radical to some people but we believe that based on the data and the twins’ cyclodextrin treatment throughout 2009, we can show the FDA that doctors can administer cyclodextrin into the brain safely and that the treatment could be life-saving.

Our efforts to alter our treatment protocol from bloodstream to brain may create some amount of debate. We are prepared to fight the next set of roadblocks in our efforts to save Addi and Cassi and other children suffering from this fatal cholesterol disorder.

Addi and Cassi have been receiving cyclodextrin intravenous treatment (IV into bloodstream) for the past nine months. In September 2009, we stopped our weekly dose escalations and remain constant at a dose of 2500mg/kg, 8 hour treatments two times per week via IV.

Since putting cyclodextrin into the brain in humans has never been attempted before, it’s going to take a monumental effort to pull together the IND application. We remain hopeful that with the world-class team of experts we are assembling to write the protocol, we can administer cyclodextrin safely into Addi and Cassi’s brains.

Research funded by The Addi and Cassi Fund and Hadley Hope Fund with Dr. David Begley of Kings College of London has shown that cyclodextrin does not cross the blood brain barrier (which was under debate). However, Dr. Begley has found that cyclodextrin does not cross it may bind to the blood brain barrier which could be a key clue into how it is working. Dr. Begley will be presenting data at the Lysosomal Disease Network World Conference being held in Miami Feb 10-12, 2010.

The bottom line is that cyclodextrin is not getting into the brain.  However, cyclodextrin’s ability to possibly bind to the blood brain barrier or it’s impact in teh bloodstream may be causing the positive effects we are seeing in pur twins such as:

  • Reduction in the size of their lysosomes
  • Reduction of plasma oxysterols which appear to be a new biomarker for Niemann Pick Type C disease
  • Improved balance and stability, less ataxia and better head control
  • Improved mood and stronger emotions (happier, smiling and laughing more)
  • Much more affectionate, better eye contact
  • Increased appetite (better swallowing and chewing with Cassi in particular!)
  • More overall awareness to their surroundings, less “flat” and distant
  • Making more sounds and more volume to sounds
  • Increased concentration and ability to sit for longer periods
  • Not as floppy and jello-like, seem to have more muscle strength
  • Following directions better, seem to understand more what we’re saying even if they can’t talk
  • Improved general health status

We do not see any visible outward side effects – no vomiting, hair loss, skin rashes, dizziness – nothing. The most concerning and serious side effect with cyclodextrin appears to be pulmonary issues based on the animal studies conducted on NPC cats and mice. Apparently, in cats and mice they see increase macrophage development in the lungs but researchers do not know why.

We are keeping a close eye on Addi and Cassi’s pulmonary function. Last month, the twins underwent bronchoscopes at Children’s Hospital Oakland to look inside their lungs. I have posted the lung procedures on Vimeo for anyone to view (AddiCassi).

According to our pulmonologist, the girls have slight scattered nodules in their lungs. Doctors believe these nodules may be xanthomas. Xanthomas can occur in people with high blood lipids but usually appear on the elbows, joints, tendons, knees, hands, feet or buttocks.

Xanthomas are not a common feature of Niemann Pick Type C disease, however, there has been a case of suspected xanthomas with a child with NPC mutations. If the nodules are xanthomas, they are either as result of Addi and Cassi’s rare and private mutations or from the cyclodextrin IV treatment.  Since the girls are identical twins, the only logical conclusion is genetic or cyclodextrin. Interestingly, researchers do not see xanthoma development in the lungs of cyclodextrin treated mice or cats.

In addition, we had CT scans done on Addi and Cassi’s spleens and livers and there was no change in size. We are told by experts that this does not mean that the cyclodextrin is not benefiting their organs. On the other hand, we may not be achieving the right concentrations of cyclodextrin in the plasma. We are still trying to develop the pharmacokinetics around cyclodextrin.  They don’t exist and we have to create everything from scratch.

We have been in contact with top metabolic doctors in Japan and they are treating little girl with cyclodextrin.  The good news is they have seen a reduction in the child’s liver and spleen size. Her liver and spleen size were 4-5cm and 7cm below the coastal margin before cyclodextrin treatment and today are 1cm and 3-4cm below the coastal margin. She showed some improvement on her EEG and has not had any adverse effects with the IV treatment.  However, she is progressed and they are not seeing major neurological benefits.

It is clear that we must design further treatment options with cyclodextrin to try and improve neurological function. This means delivering cyclodextrin into the brain through the intrethecal and/or intraventricular route of administration. We will never know if cyclodextrin can save our girls unless we try.

Miracles do happen.  Please help Addi and Cassi as we try and make our miracle.

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Extraordinary Measures Movie Is A National Healthcare Wake Up Call

January 13, 2010 by  
Filed under Featured Stories

Extraordinary Measures, a new movie centered on the efforts of John and Aileen Crowley to find a researcher who might help find a cure for their two children’s rare genetic disease (Pompe Disease), will hit theaters on January 22. I can’t wait to see this movie!  The trailer sounds eerily familiar as we are working around the clock to find our own miracle for Addi and Cassi and kids suffering from Niemann Pick Type C disease (a rare and fatal cholesterol disease that is often referred to as the “Childhood Alzheimer’s.”)

I hope this movie is a wake up call to the NIH, FDA, Congress and other government agencies — people must understand what is happening to families facing fatal Rare Diseases. Like the Crowley’s, we are not going to sit around and wait for our kids to die.  But everyday it is a battle with hurdle after hurdle to cross to make the slightest progress.

Thanks to The Crowley’s for being an inspiration to all families fighting Rare Diseases and for CBS Films for making what looks like an amazing movie.  The website they created for the film has an “inspiration quilt” which allows you to upload your personal story.  I uploaded the Addi and Cassi story about our efforts to create a “Virtual BioTech” — please vote for us as we could use the money for cyclodextrin research!   (Vote now and help The Addi and Cassi Virtual Biotech win $10,000).

Please support the goals of CureTheProcess.org, an effort being organized by the Kakkis Everyday Life Foundation.  Our healthcare system needs a miracle too.

Also, join the Global Genes Project and download your denim jeans ribbon – the new symbol for Rare Diseases!

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