Cure RTD

Today, we remember Brooklynn, four years after her passing from complications related to RTD.

Brooklynn faced more in her life than any child should, but she did so with remarkable strength, joy, and spirit. She left a lasting mark on everyone who knew her, and her story continues to be part of the work we do in the RTD community.

We are also deeply grateful to her parents, Vanessa and Paul, for the love, advocacy, and commitment they have shown over the years. Through their awareness efforts and past fundraisers for Cure RTD, they have helped carry Brooklynn’s legacy forward in a way that continues to make a difference.

D is for DNA 🧬

Think of DNA as the body’s instruction book, written in a code made from just four letters: A, C, G, and T.

That instruction book is huge. The human genome has about 3 billion DNA letters, tucked inside almost every cell in your body. Within those billions of letters are around 20,000 genes, including two genes connected to Riboflavin Transporter Deficiency (RTD): SLC52A2 and SLC52A3.

These genes may be small, but they have an important job. They help provide the instructions for making riboflavin transporters, which move riboflavin (vitamin B2), into cells where it’s needed.

The SLC52A2 gene is only 7,152 DNA letters long, just a tiny fraction of the full 3-billion-letter genome. But when even one letter in this gene, or in SLC52A3, is changed, the instructions can stop working properly.

That means RTD can be caused by something as tiny as a single DNA “typo.”

One wrong letter out of 3 billion.

It’s amazing, and heartbreaking, that such a small change can have such a big impact on the body.

In theory, fixing that one DNA letter could help treat, or even cure, RTD. But that exciting story is coming later in “G is for Gene Therapy.” 🧬✨

Starting today, we’re highlighting the A to Z of Riboflavin Transporter Deficiency. Every week, we’ll share a new fact about RTD.

Today’s post is A is for Aspiration.

Aspiration happens when something such as food, liquid, saliva, or stomach contents enters the airway or lungs. Many people describe this as food or drink “going down the wrong pipe.”

For people with RTD, aspiration can be a serious concern. RTD can affect the nerves and muscles involved in swallowing, speaking, breathing, and airway protection. This means some people with RTD have trouble swallowing safely, which can increase the risk of food, liquid, or saliva entering the lungs.

Over time, aspiration can lead to repeated chest infections, pneumonia, lung inflammation, and breathing complications. In severe cases, aspiration can become life-threatening, and a small number of people with RTD have tragically passed away following aspiration-related accidents.

To reduce this risk, some individuals with RTD use feeding tubes, thickened drinks, softer foods, special positioning, or swallowing techniques recommended by their medical team. These supports can make eating and drinking safer and help protect the lungs.

For many RTD families, something as simple as a meal can require planning, care, and constant awareness.

A is for Aspiration, one of the many daily challenges that can come with RTD.