The Vail Family

Dylan and Rayme Vail are the parents of two precious sons, Carson (3) and Parker (1). Their past year has been full of countless doctor's appointments, worsening symptoms, hospital stays, multiple MRI & CT scans, and various tests/ labs. After an extensive genetic test, Carson was diagnosed with Riboflavin Transporter Deficiency Type 2. Parker was quickly tested, and they were devastated to find out he also has RTD Type 2.

As Dylan's fellow military member, I was moved watching his and Rayme's perseverance through Carson's treatments followed closely by Parker's diagnosis. Seemingly every week there was yet another surprise challenge in addition to the already laundry list of doctor's appointments to make it to. However, each time, I would witness Dylan take a deep breath, re-group, and press forward with the journey ahead for his two sons - and that was just what I saw at work! I know Dylan and Rayme both have so much strength charging forward trying to understand RTD and provide the best life for Carson and Parker. Motivated by their courage, I felt compelled to contribute!

The Disease

RTD Type 2, formerly known as Brown-Vialetto-Van Laere Syndrome (BVVL), is a rare neurodegenerative disease with less than 400 known cases worldwide. Patients with RTD Type 2 have a mutation in the SLC52A2 gene, which encodes for transporters that bring riboflavin (vitamin B2) into the cells throughout the body. RTD Type 2 is recessive, meaning it occurs only in someone who inherits two defective copies of the gene, one from each parent.

Symptoms of RTD Type 2 normally become evident between the ages of 3 months and 5 years of age with all patients so far showing symptoms by age 19.

Initial symptoms, time interval between symptoms, and severity and rate of decline are highly variable in RTD, even among affected siblings or those sharing identical SLC52 gene mutations.

Early symptoms may include unbalanced walking, vision loss (optic atrophy), hearing loss (ANSD), respiratory issues, eating difficulties, and muscle weakness that is most prominent in the neck, arms and hands.

Children often go on to develop scoliosis requiring surgery, become wheelchair dependent, require respiratory support, and develop life-threatening complications.

The disorder does not affect thinking and reasoning abilities (cognitive functions).

RTD is believed to affect all ethnicities and remains under-diagnosed worldwide. The overall rate of RTD is ~1 in a million people, with an estimated 50-100 new cases each year. While RTD Type 2 cannot be cured, daily treatment with high doses of riboflavin as well as a combination of supplements aimed to improve and protect cellular function, appear to help arrest the progression of symptoms. Since much of the damage caused by RTD is not reversible early and aggressive treatment is required.

Cure RTD Foundation

The Cure RTD Foundation provides support to patients and families affected by RTD, and funds and directs research aimed towards a cure for RTD. Now, more than ever, we stand ready to shape a future that will change lives, and give new hope to all those who are affected by RTD.