Helena McCabe took action after her son was diagnosed with a rare genetic disorder.
She refused to accept the grave prognosis for her 16-month-old son without a battle.
This is her account, as told to the author PollyAnna Brown.
Something is being loaded.
This as-told-to essay is based on a talk with the 34-year-old founder of The TBCD Foundation from Gotha, Florida, Helena McCabe. This document has been altered for both length and clarity.
Three days have passed. I gave myself that much time to mourn before taking action. Receiving a grave prognosis for my 16-month-old son was unquestionably the saddest day of my life, but I have never been one to give up.
My buddies will tell you that I’m the one to call when you’re getting the runaround and need someone to get things done. I had no intention of giving up and allowing my son to perish; I was fiery, devoted, and faithful.
Two days before Thanksgiving in 2021, Max was diagnosed with a TBCD — tubulin folding cofactor D gene — mutation, an extremely rare genetic-neurological disease. Then, he was 16 months old, and he is now 2 years old. It is comparable to ALS in infants and inhibits his capacity to walk and speak. By the age of four, children with TBCD mutations typically lose all purposeful movement and vision, and their average lifespan is less than five years.
TBCD is considered an orphan illness. This word is frequently used by the medical profession to describe a sickness that is so rare that the medical and pharmaceutical businesses have given up investigating remedies because there is no profit margin.
There are approximately 20 children in the world who have been diagnosed with TBCD; since we began awareness campaigns with other TBCD families, other families with children who have been misdiagnosed with conditions such as cerebral palsy are learning that their children actually have TBCD; however, the number of diagnosed individuals who are still alive is unlikely to have surpassed 30.
This suggests that it may be more prevalent than previously believed, and because the gene is not included in regular prenatal-genetic testing and diagnosis tests, individuals have no way of knowing if they are carriers without undergoing specific testing.
The reason we founded the TBCD Foundation
Before conceiving, my husband and I had genetic testing because cystic fibrosis runs in his family. Regarding this matter, the doctor gave us the all-clear; we were good to go. Due to the rarity of TBCD, screening for it is not included in normal genetic testing, and we discovered that we are both carriers. According to our neurologist, we would have had higher odds winning the lottery twice, which is obviously preferable.
When my husband and I discussed what we would do, we decided to support all children with TBCD and founded The TBCD Foundation, which is dedicated to generating funding for research.
Several families with children who have TBCD did not respond as I had anticipated. Some people find it more agonizing to hope than to face with their impending tragedy. When a child is given a terminal diagnosis, the majority of parents do not even seek a second opinion. However, we did discover two other mothers who were eager to assist.
Together, we emailed tens of thousands of scholars. We emailed everyone who might be able to help; any scholar who had authored a paper on the topic or conducted similar research. Each time, we received the same response: variants on the word “no.”
Max.
Thanks to Helena McCabe
We didn’t allow hearing ‘no’ stop us
Given that TBCD is an orphan disease and a lack of funds, no one wanted to investigate it. Until we heard from Dr. Allison Bradbury, an assistant professor in the Department of Pediatrics at the Ohio State University College of Medicine and a principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute, we held this belief.
Bradbury reached out to us in January 2022 after witnessing Landon, one of the other TBCD Foundation children, on the news. She informed us that she wished to assist. Her work focuses on research and therapeutic development for rare neurodegenerative illnesses in children, and she was willing to speak.
Since Bradbury joined our research team, we’ve learned a great deal about the condition and how it affects each patient differently. For instance, I now understand that the location of the mutation on the gene determines how rapidly the sickness will manifest in the individual.
Time is not on our side, but we are making the most of it.
Max is one of the more fortunate patients, as his mutation is far back in 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 can say, and his movements becoming increasingly impaired with each passing day, we cannot afford to waste any time.
So far, the preliminary phase of the investigation has shown encouraging results. Bradbury is use a procedure that has been successful in the treatment of other rare genetic disorders to replace the damaged DNA with a healthy copy. The sooner we can implement this therapy, the more lives we will be able to save and the better quality of life we will be able to preserve for Max and other patients.
Max and the other children with TBCD will require $2,000,000 in order for us to begin clinical trials. These clinical studies may save his life and the lives of other children. Although there are no guarantees, this is Max and these children’s greatest chance at a better, happier life.
I understood I had an option after Max’s diagnosis: accept it or fight like hell. Instead of sitting, grieving, and watching my infant son die, I am battling with everything I have to save his life. My objective is not for Max to have a normal life, but a joyful one. This is conceivable if we are able to secure financing for this research.