For a parent, there is no worse feeling than knowing your child is dying.
Gotha/MetroWest resident Helena McCabe said her 2-year-old son, Max, is full of life, laughter and happiness. He’s completely oblivious to the fact that he may have fewer than three years to live.
At only 16 months old, Max was diagnosed with TBCD disorder, a fatal neurological condition with a life expectancy of only a few years and no known treatment.
Helena said her and her husband Alex’s hearts were broken.
“Max doesn’t know anything except for love,” Helena said. “Everyone in his life has always been nice to him and adores him, so Max looks at the world with this unbridled joy and honesty that everything is friendship and love.”
Max was born July 20, 2020; he weighed 5 pounds, 12 ounces.
Within the first few months of Max’s life, Helena said she knew something was wrong.
Even as a baby, Max never cried, and when he was 10 months old, the couple realized he was struggling to meet basic milestones such as eating solids and sitting up.
After visiting an occupational therapist, who specialized in feeding, and going through genetics and blood testing, Max was diagnosed with TBCD in November 2021.
“I immediately Googled it, and I read about TBCD, and I just knew,” Helena said of before the official diagnosis. “The minute I read those symptoms, I was like ‘No, this is what he has,’ because he had every symptom on the list. It was a perfect description of him. I remember reading it and just saying unconsciously out loud, ‘No. No, no, no.’”
Although she suspected Max would always need care, she never expected it to be something so progressive and deadly.
TBCD is a genetic disorder that is neurodegenerative and fatal. Most children lose all purposeful movement by age 4, and the majority die by age 5.
There’s currently no treatment or cure.
TBCD disorder is extremely rare — fewer than 20 children have been diagnosed. Only a handful are alive today. TBCD is labeled an “orphan disease,” because it’s too rare to generate scientific or pharmaceutical interest.
“It went from ‘Oh he might always need care,’ to ‘He might not be here for long,’ and I just died inside of my body,” Helena said. “It was the worst thing that I could imagine. I really just let myself be a corpse for a few days. I didn’t eat, I didn’t sleep, I didn’t talk. I did not have the physical or emotional strength to do anything. I just died.”
The depression did not last for long; the mother knew she had to make a choice.
“I told myself, ‘I can be sad, or I can help him, but I can’t do both,’” she said. “So after three days, I said, ‘Enough. Let’s find a solution instead of lying here, accepting it and crying.’”
SEARCHING FOR SOLUTIONS
Since then, the McCabes have embarked on a journey to find that solution.
From emailing researchers to connecting with other TBCD families, starting a TikTok and even a foundation, the McCabes have done everything to help their son and others affected.
When Dr. Allison Bradbury, of Nationwide Children’s Hospital in Ohio, found the family in January 2022, everything changed.
“She said, ‘I want to work on TBCD,’ and that’s when we had a targeted amount of money we knew we had to shoot for,” Helena said. “It felt like a miracle. To have your orphan disease picked up is very rare, fortunate and special. It’s like winning the lottery.”
Because orphan diseases are often passed over for research by investors, academics, and private and federal grants because time and money flow toward causes with large communities, Helena said the message has been very clear.
“Unless we fund the money ourselves, we’re on our own,” she said. “Unfortunately, we’re not wealthy.”
The family is currently working to raise $2 million in funding for the gene therapy being worked on at the hospital.
In addition, because TBCD is a monogenic disease, Helena said any breakthroughs or discoveries made for Max likely would benefit other children with TBCD.
The McCabes’ efforts have already made an impact on other families struggling with TBCD.
Helena said she had a family message her on TikTok saying they saw Max’s symptoms and decided to get their daughter tested.
“Their daughter also has it,” Helena said. “That’s a one-in-a-million thing, but if we got one kid diagnosed a little earlier, that’s great. That’s worth all of the effort right there.”
The family currently has raised more than $103,000 and has put in $26,000 so far to the gene therapy.
“How much it will do for Max will depend on how quickly we can get it into Max,” Helena said.
Physically, Max’s capabilities are that of a 7- or 8-month-old, and developmentally he rests at the maturity of a 1-year-old. He can speak about five words and has a huge personality.
“He’s very emotionally mature,” Helena said. “He may not have a lot of words, but he can get across exactly what he thinks, wants, feels and needs. He’s the light of my life. A joy.”
Max’s joy in life is books. He crawls to his bookshelf, pulls the books out, turns every page and lifts every flap.
He loves “Blue’s Clues,” “Sesame Street,” Elmo, music, peekaboo and his best friend, Sam, the family’s golden retriever.
Right now, the family is focusing on aggressively fundraising so the money can keep moving as fast as science can.
Helena is using her past experience as a digital accessibility specialist, where she served for a decade before Max was born, advocating for those with disabilities and educating people on the importance of connecting those with disabilities with technology, to communicate with the community.
“This has always been something that has been very important to me — even before I knew I would have a disabled child,” she said. “So for my own kid to be born with a severe disability, it felt like I was preparing the world for him, and I didn’t know it.”
Aside from fundraising, the McCabes spend a majority of their time ensuring Max has as much of a normal life as he can. They enjoy family vacations, send him to preschool, hang out with family and allow him to participate in as many activities as possible.
“I really want to give him as much life as I can,” Helena said.
The mother is currently working on her first book, “Cookies for Cures,” with the goal of helping 20 kids with 20 rare diseases through 20 homemade cookie recipes. The proceeds will be split between the 20 foundations to fund cures, research and explore solutions.
For those who are unable to donate financially, the McCabes are asking residents to share their story.
One of the family’s most recent efforts to spread awareness and raise money is the “Tap into the Cure” fundraiser. Participating restaurants will be asked to ask their patrons to consider donating $1 for the tap water they would usually drink for free for one month to the TBCD research fund.
Helena said parents also can encourage their children to include other children with disabilities in their play.
“It has been a journey of personal growth,” Helena said. “It’s been really, really hard. There’s nothing that kicks you in the teeth more than being told your kid is going to die and there’s nothing you can do about it. But it’s also showed me how much I am capable of accomplishing. I was told it’s impossible. … Well guess what? It seems like it’s not.”