Tommy’s RTD Story
Pre-Diagnosis
Before his diagnosis, Tommy was a normal, happy little boy. He was a little developmentally delayed, but we didn’t think much of it. He was progressing and gaining new skills - until one day, he wasn’t.
Decline
In December 2021, Tommy started to decline. He lost a lot of strength in his arms, neck and core. He also starting having a lot of trouble with balance and coordination. Watching him deteriorate in front of us without any answers for 5 months was heartbreaking.
The first time we noticed Tommy struggling to feed himself.
By the time of his diagnosis, Tommy could not lift his arms at all.
Tommy lost the ability to crawl and could not bear weight on his arms, which made him very prone to injury.
Diagnosis
After many diagnostic tests and appointments with specialists, we ran a whole exome genetic panel in late April 2022. On Mother’s Day, we received a call with the genetics results and a diagnosis of an autosomal recessive disorder known as Riboflavin Transporter Deficiency (RTD) Type 2. We had never heard of RTD and neither had any of Tommy’s doctors. Google didn’t tell us much about the prognosis or treatment. We didn’t know what the future with RTD looked like.
Fortunately, a few weeks after Tommy’s diagnosis, we connected with the Cure RTD Foundation. They were able to advise us and our doctors about therapy and treatment. They saved Tommy’s life.
Treatment & Progress
After learning a lot about RTD from the folks at The Cure RTD Foundation, Tommy was started on high-dose riboflavin (vitamin B2) 4 times per day and continued aggressive physical and occupational therapy. He has come so far and is such a strong, brave boy who truly never gives up.
Tommy takes riboflavin to survive, and we have been fortunate that it has helped him regain a lot of the skills he had lost. However, it is not a cure. It is not guaranteed that he will continue to progress. Therefore, we are doing everything we can to support the work that the Cure RTD Foundation does on their mission for a cure. RTD is cure-able through gene therapy, and we won’t stop until it is an available option for Tommy and all those living with RTD.