60 Minutes aired a story about gene replacement therapy CURING sickle cell anemia.   The story highlighted a woman experiencing pain as “very sharp, like stabbing, almost feels like bone-crushing pain.” She was barely capable of physical activity, spent weeks a year hospitalized and didn’t know if she would live into her 30’s.  Just 9 months after gene therapy, this woman can now swim, run and participate in jiu jitsu class.   60 Minutes showed footage of her joyfully being slammed to the ground in jiu jitsu – something that could have nearly killed her.

“I believe that this looks like a cure,” says Dr. Francis Collins, director of the National Institutes of Health. “I got to be careful. But from every angle that I know how to size this up, this looks like a cure.”

Gene therapy is in clinical trial for thousands of genetic conditions.  My eyes filled with tears watching this woman fully recover and living a life she didn’t know existed.   This is the reality of gene therapy – life for thousands of people afflicted by diseases that were deemed hopeless.

Half of all rare disease diagnoses are children and 30% of those children will not live to see their 5th birthday.

If you want to cry happy tears, google the drug Spinrazza and see children with spinal muscular atrophy walking up stairs after being wheelchair bound.  Death is no longer the only outcome for these diseases.

Dr. Collins sees more reason to hope. “There are 7,000 genetic diseases for which we know the precise DNA misspelling,” he tells LaPook. “Couldn’t this same strategy … set of principles work for lots of those, maybe someday all of them?”

SLC6A1 is one of the diseases that can be cured by gene therapy and are relentlessly forging toward the cure.

Watch the Full Episode Here:  60 Minutes Overtime.

We could not get there without all of YOUR help.


SLC6A1 Gene

I am a mother of a beautiful boy with an SLC6A1 mutation and I am dedicated to finding the best treatment possible for my son.


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