The story of Tommy
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.
In December 2021, Tommy started to decline. He lost a lot of strength in his neck and core. He lost the use of his arms. He also started having a lot of trouble with balance and coordination. He lost the ability to crawl or bear weight on his arms at all, which left him very prone to injury. Watching him deteriorate in front of us without any answers for 5 months was heartbreaking.
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.
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. We feel so blessed that his diagnosis has treatment options at all. However, this treatment 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.