Brown-Vialetto-Van Laere Syndrome

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Brown-Vialetto-Van Laere Syndrome
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    Treating a Patient With Riboflavin Transporter Deficiency Type II

    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 IIIor 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.  

    Raising a Family With Brown-Vialetto-Van Laere Syndrome

    Lauren’s daughter and son. My daughter came into this world three years after my son was born. This was about 15 months after he developed the first of what would be a series of health declines in the years to come. (Having spent 15 years searching for answers, my son was finally diagnosed in late 2014 through the NIH Undiagnosed Diseases Program with Brown-Vialetto-Van Laere Syndrome (BVVL) — incredibly rare, with less than 100 people in the world diagnosed with the syndrome.) After the “year of pain and heartache,” grieving over my son’s sudden mystery disease, the birth of my daughter seemed like a beacon of hope in an otherwise dark and scary place. This amazing little creature, so endearing and precocious was exactly what my heart needed in order to heal. She became my partner, my best friend, filling in the piece of my soul that had been ripped out a year earlier when my first child started to deteriorate. I reveled in her growth and development, watching her flourish in ways my son never had the opportunity to do. I watched her closely for signs that she, too, might have the same disease, withholding a little bit of joy out of fear she may start fading away as my son had done. But as time went on and all of her milestones were reached, not only on time but often ahead of schedule, I began to realize she was going to be OK. And over the months and years that followed, I also came to realize that it was she and her luminous spirit that allowed me to get through those incredibly difficult days when I would sit in the dark, inconsolable, wondering “why my child?” When she was very young, I would often stop and remind myself that “I” set the tone of the relationship with her. I told myself that I refuse to let the time and attention required to care for my disabled child affect the closeness that she and I were building. But as time passed, my older son began slipping away a little bit more. He could no longer walk, or hear, and he eventually lost the ability to use his arms and hands to feed himself or hold a marker. All of this deterioration came with no explanation and, what was worse, no way to stop it. And with those setbacks, came less and less time to be there for my daughter. My days were consumed with research, doctors and questions — endless, unanswered questions and often hopelessness. In 2004, my third child was born, another son — healthy, just as she was. Between caring for a newborn and a deteriorating 7-year-old, my sweet daughter seemed to get lost somewhere in the “chaos.” I took for granted her maturity and intelligence that belied her young age. She was a happy little girl who didn’t seem to mind sitting for hours waiting for her brother at therapies and doctor’s appointments. While other little girls were taking ballet lessons and having play dates, she sat obediently in the corner of stark, sterile hospital rooms, listening to doctors direct scientific questions about my son’s mysterious illness to a crowd of inquisitive medical students. As other children were at the playground or learning to ride a bike, she stood by stoically as her brother went through painful medical procedures. She intuitively knew her role was to exhibit patience and good spirits, no matter how hungry, bored or tired she might be. It was just how things were in her world. Now that she is a teenager, I feel myself grieving for my daughter as well — mourning the years and time lost as I waged my son’s battles with health, doctors and schools. I regret the dance lessons and play dates and normal childhood she was denied. She was always seeking to make her own mark in the world. And while she has missed a lot of life that others take for granted, she is stronger than other girls her age. She is mature and rational. She “gets it.” Her character is solid and her insight is highly developed. I watch her move through life with a sense of understanding about the people around her and where she fits in. The years spent as a silent observer have provided her with wisdom most of us will never achieve. Her empathy for others is profound. She has no admiration for those who attempt to ingratiate themselves and does not offer her respect without merit. And despite her sacrifices for the care and keeping of her older sibling, there has been little questioning of those things that have been forfeited. Sure, there is sometimes frustration over the choices we have to make as a family because of his disability. There are places we cannot go and things we cannot do. To say she doesn’t feel a little bit cheated would be a lie. Yet, still there is tremendous love and compassion, and something of a maternal nurturing toward him. It is a brother-sister relationship stronger and more caring than most. I realize now what an amazing gift she has been to him as well. I have also come to realize that I never followed-through with the promises I made to her when she was born. I failed to deliver the time and attention I vowed to give her. I “did” define our relationship, but not in the way my heart intended. She was often brave when I could not be, sometimes strong when I was fragile. She was all the things I should have been, but couldn’t always be. I hope she knows I could not have made it without her. Her gentle spirit guided me during those dark days when I learned that life isn’t fair. When all is said and done, it was she who was truly the wind in my sails for so long, lifting me up when the gravity of my world tried to wrestle me down. Soon she will be moving on and discovering her own place in the world. She will have an opportunity to define herself on her own terms without the constraints of a family that must function around the needs of one. And she will do great things that will change the world for the better. I know this, because in my world, she already has. The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? Check out our Submit a Story page for more about our submission guidelines.