Central Florida family of boy born with rare genetic disorder searching for cure

ORLANDO, Fla. - A Central Florida family is searching for a cure after their baby was diagnosed with a condition so rare there are less than a dozen cases in the world.

"We were so excited to have a baby," Helena McCabe said. 

Her son Max is one and a half years old and by looking at him, you wouldn’t suspect anything out of the ordinary.

"So we were really surprised when around 9 months he wasn’t eating. He wasn’t sitting up."

After visiting several doctors, they went to a geneticist who found a TBCD gene mutation – an ultra rare genetic disorder.

"What that means is his TBCD gene inhibits him from making the betatubuline that his body needs to create myline – it’s kinda like ALS but for babies," McCabe said. Her doctors said the condition is progressive and most don’t live to see their fifth birthday.

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"With TBCD it’s very rare that they learn to speak or walk," she said.

It’s a race against time to find a cure, but there is hope. They’re hoping to begin some experimental gene therapy.

"The trouble is funding. We need two million dollars," McCabe said. "Insurance won’t touch it."

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So in an effort to gain awareness and raise funds, McCabe created Miracle Max on TikTok. While they’re hoping for a miracle, McCabe and her husband are working on another one of their own.

"We do want a little brother or sister for him that’s why we decided to do IVF," she said. "Because it’s a recessive disorder that we both carry any child we have has a 1 in 4 chance of being affected and those are odds that are just too high for us."

Dr. Mark Trolice at the IVF Center is offering his help.

"It’s called pre-implantation genetic testing," Dr. Trolice said. "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."

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"He took the financial obstacle away from IVF for us that we could do it and focus our finances on Max," McCabe said. 

Taking each day one day at a time… each day a gift with Max. You can help by donating to Max's GoFundMe HERE.

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