Orlando family of boy born with rare genetic disorder making progress in research for a cure
Orlando family makes progress with son's diagnosis
A family desperately searching for a cure after their son was diagnosed with a rare condition is making strides, and even adding a new face to their family. They didn't think they would be able to have another child after finding out their their son was diagnosed with a TBCD gene mutation, but now three-and-a-half-year-old Max is a big brother to his new baby sister, Aurora.
ORLANDO, Fla. - FOX 35 first brought you this story two years ago about a local family desperately searching for a cure after their baby boy was diagnosed with a condition so rare, there are less than 40 cases of it in the world.
As FOX 35’s Amanda McKenzie reports, they are making strides to find a cure and have a new addition to the family after a local IVF doctor heard their story. Three-and-a-half year old Max McCabe is now a big brother to his baby sister, Aurora.
"He’s so good with her and loves her so much," his mother Helena McCabe said. "I really think it’s the best thing we could have done for our family."
It wasn’t easy getting to this point. McCabe said she wasn’t sure if they would ever have another child after finding out that their son Max was diagnosed with an ultra rare genetic disorder – a TBCD gene mutation.
"Physically, it’s a lot like having an 8-month-old forever," McCabe said.
Patients like him never learn to walk or say more than a few words, and most do not live to see their fifth birthday.
Dr. Mark Trolice at the IVF Center heard their story and offered to help. FOX 35 interviewed him back in 2022.
"So we’re providing them the cycle, of course complimentary, and hoping that with this kind of exposure we can increase the ability for them to get research funding," Trolice said.
"True to his word he really did it for us for free," McCabe said.
Just in the past couple of years, she has remained focused on not only growing her family, but saving it.
McCabe’s Miracle for Max Tiktok videos have been raising awareness and money. They've also started a GoFundMe.
"We’ve raised about $150,000 on Tiktok," she said.
That money is going toward gene therapy research that continues to make great progress after just a couple of years. The hope is that the FDA will soon give the green light for clinical trials.
"The technology works," McCabe said. "We just have to get it there. And I think we will. Whether we get it there in time for maximum function with Max, I don’t know. But I think it’s worth doing either way."