Living with RTD

Slauga and her sister both have RTD Type 2. Picture taken in 2010, before RTD diagnosis. 


I am legally blind, became totally deaf at age of 5, started having balance issues at around the age of 10, started using a wheelchair shortly thereafter and was diagnosed with RTD Type 2 when I was 15...

Why am I counting all these things yet again? And why am I writing in English, not Icelandic?
Well, the reason is simple: this article is for all the people in the world that have RTD.

What is RTD?

RTD is not Resources Dependence Theory, as some business managers might think. In fact, RTD stands for Riboflavin Transporter Deficiency, which is a rare neurological genetic disorder.  Formerly known as Brown-Vialetto-Van Laere (BVVL) or Fazio-Londe (FL) syndrome, an estimated one in 1 million people worldwide are born with RTD according to the Cure RTD Foundation.  RTD is caused by genetic mutations in the genes that make riboflavin transporter proteins in the body.  These riboflavin transporters play an essential role in transporting riboflavin (vitamin B2) across cell membranes in the body.  This vitamin deficiency in the cells caused by RTD affects motor and sensory neurons and leads to hearing and visual loss, muscle weakness, balance loss, eating and breathing issues etc. Since the gene discovery less than 7 years ago over 160 individuals worldwide have been diagnosed with RTD.

The first documented case of RTD was in 1894.  Today‘s science has made it more possible to better identify inidivudals with RTD, and since the gene was discovered those diagnosed with RTD started a treatment, which includes taking large doses of riboflavin every day. Most of those people I have spoken to who use this treatment claim to either feel more stable or have even seen some great improvements. I myself both take large doses of riboflavin and do physical exercises to help with RTD issues. If anything has changed since I started several years ago, I would mention more control of movements and balance, though I still need to use a wheelchair.

Cure RTD Foundation 

In 2016, a global, non-profit organization called Cure RTD Foundation was established in USA. It‘s aim is to research RTD and find better treatments and a cure. Cure RTD was established because people affected by RTD realized there was too little known about RTD, and also because people care. They care because they either have RTD themselves, or are related to someone with RTD. Those that are not diagnosed with RTD and are not receiving proper treatment can often pass away while still young, but the progression of RTD is very unpredicatble.  Someone with RTD might get symptoms very young, get worse very fast and then have short periods of stability before things get worse again. Another might get symptoms later in life that happen slowly and continue until the individual is given proper treatment. About 50% of RTD‘ers start showing symptoms before the age of 3, and about 95% before age of 20. Knowing more about RTD and spreading the wisdom could therefore save lives.

There is still life out there

While RTD might sound like a very scary thing, I doubt many RTD‘ers live completely in it‘s shadow. That is why one day in January I sat down in front of my computer and started looking for young people with RTD online. I wanted to create a group for the youths, because we are talking about people who might be taking their first steps in adulthood and be insecure while also having to deal with a challenging syndrome. I wanted to meet other peers, and see what they are doing, and I wanted to bring us together so we could learn from each other and also have fun. And guess what? Now, a month later, we are ten individuals in the group, both males and females from all around the world.  We are not too interested in sharing medical reports and instead talk about sleep issues, college education, our relationships and our families. Because being diagnosed with RTD does not mean your life is over, as some might think. In fact, it means that the possibility of living increases, as you can more easily get the help and treatment you need. That is why it is so important to be diagnosed with RTD as soon as possible, it makes early intervention more successful.

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