Most doctors might never encounter a patient with riboflavin transporter deficiency type II (RTD Type II) in their entire career. Sometimes referred to as Brown-Vialetto-Van Laere Syndrome (BVVL), the disease was recently renamed to more accurately describe the condition. Currently, there are less than 100 people diagnosed with this condition in the world, which makes it one of the rarest diseases on the planet.
As the parent of a teenage son with RTD Type II, I consider myself somewhat of an expert on the disorder. Not only do I have 19 years of personal experience with RTD Type II, I am familiar with most of the other people who have it. Below are several key points all medical professionals should know about the disease:
1. Whatever you have read about this disease on the Internet
is probably wrong. Sadly, most online sources on BVVL do not properly reflect information on RTD Type II, but instead reference RTD Type III
or other forms of BVVL, which have very different symptoms. The most accurate source of information is currently the BVVL Research Foundation Facebook Page, which is run by a proactive group of parents who are on top of the disorder and the latest findings and treatments.
2. RTD Type II (BVVL) presents with a very specific set of symptoms which can range in severity. Children are typically born healthy with no “obvious problems.” During the first few years of life, children begin to display vision loss combined with nystagmus and/or unbalanced walking caused by loss of reflexes. Other early symptoms include hearing loss, eating difficulties and muscle weakness usually most prominent in the neck, arms and hands. Some cases also present severe anemia and respiratory issues. If left untreated, children go on to develop severe scoliosis and become wheelchair dependent, often developing life-threatening complications.
3. It can often take years for a diagnosis. The gene responsible for RTD Type II (BVVL) was only discovered in 2012. Therefore, most medical professionals have never heard of the disorder. Consequently, patients often receive the wrong diagnosis or no diagnosis at all. Sadly, some children have died while waiting for doctors to identify their disease or they are diagnosed at a stage where irreversible disability has occurred. There are estimated to be over 1,000 cases of RTD Type II today with either no diagnosis or the wrong diagnosis, with potentially 100 new cases every year.
4. There is no cure. However, it is a treatable condition. RTD Type II (BVVL) is caused by a mutation in one of the genes that transports riboflavin into the cells. Therefore, the primary treatment is high doses of vitamin B2 (riboflavin) in conjunction with other supplements crucial to improving and protecting cellular function. The earlier treatment is implemented, the more likely the disease can be arrested before permanent neurological damage occurs. The potential for life-sparing treatment makes awareness of RTD Type II (BVVL) even more critical.
5. RTD Type II (BVVL) does not affect cognitive function. Despite vision, hearing and motor difficulties, intelligence is unaffected in RTD Type II (BVVL). Most children are successful in school and college and many go on to have successful careers.
6. The type of deafness associated with RTD Type II (BVVL) is called auditory neuropathy spectrum disorder, or ANSD. ANSD is a hearing disorder in which deafness is the result of the signal traveling from the ear to the brain, not the ear itself. Therefore, treatment with hearing aids is not likely to be successful in a patient with RTD Type II (BVVL). Many patients with this disease have seen the most success with cochlear implants, which helps to synchronize the auditory signal to the brain.
7. Listen to the parents and patients. There are precious few doctors in the world who know anything at all about riboflavin transporter deficiency type II. You will likely learn more about the disease from the people who live with it every day than you will from any medical journal or physician.
Note: Special thanks to Keith Massey, PhD for assisting in the editing and fact-checking of this piece.
The Mighty is asking the following: Create a list-style story of your choice in regards to disability, disease or mental illness. Check out our Submit a Story page for more about our submission guidelines.