The “valley of death” looms for 8 kids with a rare disease – Mortar Plastering Machine

For me, that face belongs to 8-year-old Hannah Sames, of Rexford,New York. Hannah is one of only 54 people known in the world to have giantaxonal neuropathy, or GAN. It s like ALS (Lou Gehrig s disease)in a child. Today Hannah needs a walker, but things are going toget worse, much worse unless, we all hope, she has gene therapy.

Her parents, Matt and Lori, are making it happen. Since Hannah sdiagnosis in March 2008, they ve worked nearly around the clock tofund and assemble a team to use gene transfer to deliver the genethat Hannah needs directly into her spinal cord. Gene transfer becomes gene therapy once it works. Sometime within the next year, a neurosurgeon will delicately placeseveral trillion adeno-associated viruses, each one harboring aworking copy of the gene that is mutant in Hannah and seven others,into their spinal cords. If all goes well, the genes will stop theswelling and destruction of the nerves that s slowly robbing thechildren of their mobility.

And since GAN has no treatments, otherthan those that ease day-to-day life, it s worth the gamble.There s no other option. Through Hannah s Hope Fund , the Sames family, and thousands of their neighbors in the capitaldistrict of New York, have raised a few million dollars, throughevents, tee-shirts, races, raffles, everything. They even won twoPepsi refresh grants of $250,000 each. Neighbors of the other GANfamilies have done the same. But it isn t enough. Plaster Rendering Machine

The Valley ofDeath looms. Hannah s Hope has funded researchers at Emory University, ColumbiaUniversity, the University of North Carolina and elsewhere to carryout the steps preceding the gene transfer experiment. And resultshave been so promising that the Food and Drug Administration (FDA)gave a tentative go-ahead this April, pending further toxicitystudies in animals. Those are underway now, but cost $646,000 plunging Hannah s Hope Fund to the breaking point. Mortar Plastering Machine

Lori estimates other costs: – $430,200 for a 2-year natural history study for 12 patients to track the course of this ultra-rare disease, sothat the researchers can determine exactly what to check to assesssuccess. – $220,000 to manufacture the viruses and their human gene cargo – $600,000 for the phase 1, 2-year trial for 8 children – $450,000 for a small Phase 2 trial to assess efficacy That s a total of $2,346,200. Then, hopefully, a biotech orpharmaceutical company will step in for the required larger phase 3trials that precede FDA approval. It sounds like a lot. But for comparison s sake, $2,346,200equals: – approximately 1/30th of Johnny Depp s fee for his next film – 1/10th of what Alex Rodriguez earns in a year – 10 speeches for Bill Clinton – 6 of Kate Middleton s wedding dress – 2 years worth of nanny-time for Brad and Angelina s brood – Slightly more than Kim Kardashian s useless $2 millionengagement ring – .07% of the money spent on the Obama and Romney campaigns as of March 2012. China Spray Plastering Machine

The government isn t funding the GAN gene therapy trial. So whatthe tiny GAN community needs, desperately and now, is a Michael J.Fox, Christopher Reeve, or Julia Roberts.

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