Four years later

June 28, 2016

 Getting ready for our interview with Caryn Schwartzberg, Brody the dog, and me.

 

Four years ago, today,  Pat and I heard the words, "We think your daughter has a disease called metachromatic leukodystrophy."  It did not take us long to realize that the disease was incredibly rare and fatal.  The best thing the young neurologist named Dr. Amy  Waldman could do for us was "fast track" our Make A Wish vacation. But, in that meeting with Dr. Waldman, I asked her if she believed MLD would be cured one day.  Dr. Waldman answered, "yes, this is a disease we understand."

"How long will it take?" I asked. Skeptical that such a terrible and rare disease could ever defeated.

"I would say we are ten years away, the best hope is gene therapy." Dr, Waldman responded.

 

I had read the headlines and worked at Penn when a young man named Jesse Gelsinger died because of an adverse reaction from a gene therapy trial. The idea of using a repurposed  HIV virus to repair the broken gene that causes MLD seemed like science fiction.

 

But, for a moment I latched on to Dr. Waldman's belief in the promise of gene therapy.  And then I heard myself say, "I know you can't help Cal, but Dr. Waldman, I want you to promise to find me when you have a cure, and I want you to find me so I can meet that girl and her mother that you can save from this nightmare." And Dr. Waldman held my hand and with tears in her eyes, she promised she would find me.

 

I remember that conversation so clearly.  

 

And four years later, there is a Leukodystrophy Center of Excellence at CHOP and a gene therapy for MLD is proving to part of a revolution in the field. And I have met beautiful children gene therapy has helped save from the worst effects of MLD.  When I see children with Cal's disease smiling, talking to their mothers, and eating  cupcakes, it is witnessing a miracle.

 

And  so, yesterday, our family sat down with a crew from CBS Sunday Morning with Charles Osgood and Martha Teichner, to tell the story of Cal, the cupcakes, gene therapy, Dr. Biffi and Dr. Waldman.

 

We are not sure when the story will run, but if we are fortunate, leukodystrophy's eight minutes on the national stage will be a game-changer. We hope millions of Americans meeting Cal, Giovanni, Cecilia, Dr. Waldman and Dr. Biffi will help us get the attention, awareness and resources we need to save children sooner.  So much has happened in the last four years, but my deepest wish from that  first meeting with Dr. Waldman remains exactly the same. I want to witness a future where leukodystrophy is no longer a death sentence, I want to see a world where 4 million babies born in the US each year are screened for leukodystrophies at birth and doctors can use new treatments like gene therapy to give them back their childhoods. 

 

One day the Cupcake Challenge will feature dozens of children with leukodystrophy on the stage running, playing and eating cupcakes playing alongside the children like Cal.

 

 

 

 

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