This as-told-to essay is based on a conversation with Helena McCabe, the 34-year-old founder of The TBCD Foundation from Gotha, Florida. It has been edited for length and clarity.

Three days. That's how long I gave myself to grieve before I got into action. Getting a terminal diagnosis for my 16-month-old son was, hands down, the worst day of my life but I've never been a quitter.

If you talk to my friends, they'll tell you I'm the person to call when you're getting the runaround and need someone to get things done. Fiery, committed, and loyal, there was no way that I was going to concede and watch my son die.

Max was diagnosed with a TBCD tubulin folding cofactor D gene mutation, an ultrarare genetic-neurological condition, two days before Thanksgiving in 2021. He was 16 months old then, and he's 2 years old now. It's like ALS for babies, and affects his ability to walk and talk. Kids with TBCD mutations usually lose all purposeful movement and vision by the age of 4, and the average lifespan is under five years.

TBCD is referred to as an orphan disease. The medical community often uses this term to describe a disease so rare that the medical and pharmacological industries have given up researching treatments because not enough people experience it for there to be a profit margin.

There are currently about 20 children in the world diagnosed with TBCD; since we've begun awareness campaigns with other TBCD families, other families with children who have been misdiagnosed with things like cerebral palsy are discovering that they actually have TBCD but the number of people diagnosed and still alive is unlikely to have broken 30.

That means it might be more common than originally thought, and because the gene is not included in standard prenatal-genetic testing and diagnosis tests, people have no way to know if they're carriers without specifically testing for it.

Before my husband and I conceived, we had our genetics tested because cystic fibrosis runs in his family. The doctor gave us the green light as far as that was concerned; we were good to go. Because TBCD is so rare, screening for it is not included in standard genetic testing and we came to find out both of us are carriers. Our neurologist said that it's so rare, we would have had better odds winning the lottery twice, which obviously would have been better.

When my husband and I talked about what we were going to do, we decided to go all-in on helping all kids with TBCD and started The TBCD Foundation, which is dedicated to raising funds for research.

Several families with children who had TBCD did not jump on board the way I thought they would. For some people, it's more painful to hope than it is to deal with the anticipatory grief. Most parents don't even get a second opinion when their child receives a terminal diagnosis. But we did find two other mothers who were happy to help.

Between the three of us, we emailed thousands of researchers. We emailed everyone who might be able to do anything; any researcher who had written a paper on it or worked on something similar. Each time, we were met with the same response different variations of "no."

Without funding, and given that TBCD is an orphan disease, no one wanted to touch it. That was until we heard from Dr. Allison Bradbury, an assistant professor in the Department of Pediatrics at Ohio State College of Medicine and a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute.

After seeing Landon one of the other children from the TBCD Foundation on the news in January 2022, Bradbury reached out to us. She let us know that she wanted to help. Her work focuses on research and therapy development in the field of rare pediatric-neurodegenerative disorders, and she was willing to talk.

Ever since Bradbury came on board to help us with the research, we've learned a lot about the disease and how it affects every patient differently. For example, now I know that where the mutation lies on the gene dictates how quickly the disease will affect the person.

Max is one of the luckier patients, as his mutation is all the way at the back of the gene. That means he may have more wax in his proverbial candle than some other children diagnosed with TBCD, but with the progressively debilitating disease threatening his eyesight, the few words he's able to say, and his movements growing more compromised with each passing day, we don't have time to waste.

We're going through the first level of the research, and so far, we have promising results. Bradbury is using a technique proven successful in other rare genetic conditions that replaces the broken DNA with a healthy copy. The faster we can utilize this therapy, the more lives we can save and the higher quality of life we can preserve for Max and other patients.

It's going to take $2,000,000 for us to get to clinical trials for Max and the other kids with TBCD. These clinical trials have the potential to save his and the other kids' lives. While there are no guarantees, this is the best hope Max and these kids have for a healthier, happier life.

When Max was diagnosed, I realized I had a choice: accept it, or fight like hell. Instead of sitting, sobbing, and watching my baby boy die, I'm fighting for his life with all I have. My goal isn't for Max to have a normal life, but for him to have a happy one. And that is possible if we can get the funding for this research.

More here:
My son has a rare terminal genetic disorder called TBCD - Insider

Comments are closed.