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Woman Born With Half Brain Gives Everyone Hope – Michelle Mack An Inspiration For All Suffering From Brain Disease

October 12, 2009 by  
Filed under Featured Stories

B0002689 Neuropeptide receptors in the brain - LP

CNN is reporting tonight on Michelle Mack, a woman born with half her brain who is leading a normal life!  According to scientists, her brain has re-wired itself!

This story took my breath away.  If someone can be born with half of a brain and live a normal life, then kids like Addi and Cassi who are suffering from a fatal neurodegenerative dementia disease called Niemann Pick Type C might be able to re-wire their brains if we can stop the degeneration from happening.

How about people who have Alzheimer’s and Parkinson’s — could their brains re-wire if the degeneration stopped?

Michelle Mack and family — thank you for going public and telling your remarkable story.  You give hope and provide inspiration to so many people who care about the brain.

Embed video is not working on CNN so here is the video link and story:

FALLS CHURCH, Virginia (CNN)  — Michelle Mack has turned medical thinking upside down. The right side of Michelle Mack’s brain rewired itself to take over functions controlled by the left.

The right side of Michelle Mack’s brain rewired itself to take over functions controlled by the left.

Born with only half a brain, Mack can speak normally, graduated from high school and has an uncanny knack for dates.

At 27, doctors determined that the right side of her brain had essentially rewired itself to make up for function that was likely lost during pre-birth stroke. But her childhood and young adult years were fraught with frustration.

“It was very hard for me,” Mack said. “It was very hard for me growing up. No one knew the truth about my brain.”

Mack’s parents, Carol and Wally, realized shortly after her birth that something was wrong.

“There wasn’t a group to turn to,” said Carol Mack. “Michelle didn’t have cerebral palsy, I knew that. She didn’t have Down’s syndrome, I knew that. I had no place to turn.”

Ten years ago, Dr. Jordan Grafman, chief of the Cognitive Neuroscience Section at the National Institutes of Health, finally diagnosed the problem. Video Watch how Mack’s brain healed itself »

An MRI scan revealed she was missing nearly half of the left side of her brain. While it was clear Mack has some problems, Grafman said he and the family were shocked by the extent of the damage.

“We were surprised to see the extent of the lesion in her brain, which basically took away the left side of her brain,” said Grafman. “There’s some very deep structures remaining, but the surface of her brain, the cortex is 95 percent gone and some of the deeper structures, structures that control movement, are missing. These are all structures that are important for movement, behavior, cognition.”
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The only answer, Grafman said, was that Mack’s brain has rewired itself. The remaining half took over some of the essential functions that are normally done by the left, such as speaking and reading. That rewiring, however, came at a cost.

“Michelle has fairly normal language abilities, certainly basic language abilities, she can construct a sentence, she can understand instructions, she can find words when she’s talking, but actually she has some trouble in some aspects of visual-spatial processing,” said Grafman.

“It’s quite possible that in her learning, in her development, when the right hemisphere either took over or developed some of the language abilities that it cost her in some of the skills that are normally mediated by the right side of the brain,” added Grafman.

In the 10 years since Grafman first diagnosed Mack, she has seen some intellectual functions improve, the doctor said. Recovery has not been perfect, however. Mack still struggles with abstract concepts and becomes easily lost in unfamiliar surroundings.

The diagnosis explained why Mack had experienced a lifetime of difficulty controlling her emotions.

“He’s helped us understand the reason why I tend to throw fits, temper tantrums,” she said. “It was because I was missing half my brain.”

Mack will always have some problems, but dad Wally Mack said that Grafman’s diagnosis and treatment answered a lot of questions and gave him hope.

“Dr. Grafman explained that the right hemisphere is taking over, and it might take her a little while longer to get there with all the rewiring that has to take place,” he said. “But that told us all these bad days are behind us and there are nothing but good days ahead.”

Michelle Mack is now 37 and lives with her mother and father. She works from home doing data entry for her church. She is fairly independent, pays rent and can do most household chores. She realizes she’ll need help for the rest of her life but wanted to tell her story to make it clear that she is not helpless.

“I wanted to do this so people like producers, photographers and security guards and police officers learn about people like me,” she said, “that I’m normal but have special needs, and that there are a lot people like me, so that they could be more understanding.”

Parents To Seek FDA Orphan Drug Designation For Cyclodextrin To Treat Rare and Fatal Cholesterol Disease

October 10, 2009 by  
Filed under Cyclodextrin, Cyclodextrin News

Cyclodextrin---hydroxy-propOn Tuesday morning at 11am, Addi and Cassi are going to undergo volumetric CT scans of their livers and spleens.  The tests are being conducted by doctors to determine if the cyclodextrin IV infusion treatment the twins are receiving under compassionate use INDs approved by the FDA are reducing the size of their enlarged cholesterol filled organs.

UT Southwestern scientists have shown that Niemann Pick Type C mice organs can be restored to normal size through cyclodextrin treatment.  We are soon to find out whether the same is true for children who are afflicted with this rare and fatal cholesterol disease.

In all previous tests conducted on Addi and Cassi’s swollen abdomens, their spleens have measured about 12 centimeters. We are very excited and hopeful that they have reduced in size since starting the cyclodextrin infusions about 5 months ago.

We also received preliminary results this week that cholesterol is being excreted in Addi and Cassi’s urine and their lysosomes are getting smaller!  All positive signs and so far no negative side effects from the cyclodextrin treatment.  We are now infusing 2800 mg/kg over 8 hours 2x per week — we are getting into some significant doses.

Currently, my husband and I are working with a small core team of doctors and NPC parents to apply for Orphan Drug Designation for cyclodextrin (HPBCD). We intend to file our documents with the FDA in February 2010 and we are trying to get a pharmaceutical sponsor to help us.  If we are unable to secure a sponsor, we will sponsor the Orphan Drug Designation filing ourselves as private citizens.

Since no pharmaceutical company makes a sterile cyclodextrin infusion formulation, Adam our hospital pharmacist has to make Addi and Cassi’s formulation from scratch.  For the past few months, I have been working with a cyclodextrin manufacturer in Hungary and a US based cyclodextrin supplier who can help me make an endotoxin controlled cyclodextrin formulation that can be distributed to patients worldwide.  I hope to have a sterile compound available in 2010 for patients if all goes well.

Just for fun, I mocked up a little bottle (using Genzyme’s Cerezyme drug bottle) with a label.  We might be able to put our cyclodextrin into a plastic bag — essentially it would look like a bag of saline only it would have cyclodextrin in it.

Dysfunctional cholesterol metabolism has been implicated in the etiology of many diseases from  Alzheimer’s to Coronary Artery Disease.  It’s amazing to think that a non toxic food additive that is also the main ingredient in Febreze fabric freshener could be the next miracle drug and might be able to save my girls lives or give them more time with us.