NORFOLK, Va. (WAVY) — This is a big week for Karson Blanchard who, on Friday, will celebrate his sixth birthday.
“Chocolate cake, chocolate cupcakes, chocolate donuts and chocolate sprinkles and chocolate ice cream,” is what he told us he wants.
Even sweeter than all that however, is what he did at Children’s Hospital of The King’s Daughters on Wednesday.
“Of course there’s nerves that come with it, but for the most part it’s just the hope that comes with it is just really empowering to our whole family,” said Karson’s mom, Katy Blanchard.
The hope is that Karson will not suffer the fate of this muscle-robbing disease as described by his doctor, Crystal Proud, chief of neurology and director of neuromuscular medicine at CHKD.
“So, Duchenne is unfortunately a life-shortening disease,” she said. “Our boys usually stop walking by age 10 to 13 they have worsening cardiac and respiratory function in their later teenage years and then most of our guys will pass away in their 20s.”
The one-time infusion, dosed specifically to Karson’s body weight, may be the greatest birthday gift he’ll ever receive.
“It is a gene transfer therapy,” Proud said. “So, it is carrying a shortened version of the dystrophin gene that the patients do not have.”
And at a cost of $3.2 million, it will most definitely be the most expensive gift he will receive.
“The hope is to add time and his ability to walk and just to be a normal kid for however much longer we can get,” Katy Blanchard said.
Time also plays a huge role in the treatment for Karson, as the therapy is only FDA approved for boys ages four and five.
“If we didn’t get this done by tomorrow, the end of tomorrow, we wouldn’t be eligible to receive it,” Blanchard said.
The therapy cannot reverse muscle damage, but scientists believe it can mitigate future damage.
Proud has given it to a number of boys during clinical research and said some of them are now riding bikes, which is unheard of for boys with this disease.
She hopes with more data the FDA will expand approval for older boys in the future and that it will extend life-expectancy so that Karson and others will celebrate birthdays well-beyond their current prognosis.