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28th February 2023

Shining a light on rare disease

When Veronica Popa learned that her baby had a rare genetic syndrome and wasn’t expected to live past two years old, she refused to give up hope. Here she shares her story with This Is MedTech to raise awareness on Rare Disease Day.

“When my son was a few months old, his appetite started decreasing abruptly and he didn’t have the head control expected for his age,” explains Veronica. The doctor didn’t believe there was cause for concern, but when her baby was five months old and things hadn’t improved, she approached other doctors.

Months of medical investigations with no answers led Veronica to take her search outside the country. Finally, one doctor suggested that her son’s condition could be Allan-Herndon-Dudley syndrome (AHDS), an untreatable genetic condition so rare that there are fewer than 500 known cases in the world. Also known as MCT8 Deficiency, it’s a neurological condition that predominantly affects boys and impacts their mobility, cognition and general health.

A blood sample genetic test confirmed the doctor’s suspicions when it identified a mutation associated with MCT8 Deficiency. “I was in shock for weeks. Part of me refused persistently to accept this new reality but the other part of me started realising the sense of urgency this new reality had brought. Now that I knew what we were fighting, I had a direction, I could find allies, solutions and support,” says Veronica.

She feels lucky that she had access to medical technology that would finally provide a diagnosis. “It’s terrifying and shattering to find out that your son has an ultra-rare and untreatable syndrome but the torment of not knowing what to do or how to help your child is far worse,” she comments.

“Our lives have changed in ways I never imagined they would. Keeping my son alive against the odds that have been given to him and helping him become the best version of himself required reshaping everything I was and that is still an ongoing process.” This has involved taking a deep dive into the existing research, learning about various types of available therapies and sponsoring a trial centre so that her son could take part in the only medical trial for AHDS.

Veronica also co-founded and chairs the MCT8-AHDS Foundation, which is the only worldwide foundation dedicated to the needs of MCT8 patients and their families.

As for the medtech that supports her son, she says: “We use several types of equipment during a normal day, including a posturing chair, a stander frame, a walker, a pacer, foot and ankle braces, equipment for leg rotation and a system for communication, among other things.”

But Veronica dreams of finding a way for her son to move independently. To this end, she’s initiated a project with a university to build an intelligent, independent and adjustable exoskeleton for children with both neurological and motor delays. “This type of equipment would make a huge impact in our community both for patients and caregivers,” she notes.

She’s determined to keep fighting for her son and advises parents in a similar situation not to give up. “My son is nine years old now and doing a whole lot more than was expected of him. Look for solutions but when you can’t find them, be bold! Create them yourself.”

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