7 Things Medical Professionals Should Remember When Treating a Riboflavin Transporter Deficiency Type II Patient

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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.

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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.

 

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When Chronic Pain Took Away My Identity

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On February 7, 2013, I woke up, got dressed, went to class like any normal college student and returned home. I went for a jog and did some studying in the duplex I lived in that I had nicknamed “The Cave.” There was only one window in the common area of our part of the house, and it was mostly covered by a bookcase, making our home quite dark most of the time. I hated that about that house. I had no idea I would be so thankful for it later.

On February 8, 2013, I awoke with a strange one-sided headache, but I didn’t think much of it. I got the occasional headache like any average person, and I figured a couple Tylenol would kick it, and I would go about my day as usual. I went to class again and had a fairly normal day, but the headache didn’t want to budge. I tried some Excedrin and turned down a dinner invite from my grandma so I could try and sleep off the pain. I had no idea that was the beginning of what would be my new normal for years to come.

Once the headache had lasted for a solid week with no change, my mom suggested I go get my eyes checked out. I made an appointment with an ophthalmologist in town, and a few days later, I was told my eyes looked completely fine and not to worry. The ophthalmologist thought it was probably just some sinus pressure and told me to take Advil twice a day for a week or so and that should take care of it.

I’m sure you can guess the Advil didn’t do a thing, and I was referred to neurology. The neurologist ran some tests, and when everything came back clean, he told me he suspected I had new daily persistent headache (NDPH). I’d never heard of it before, and the more I researched it, the more upset I became. How dare he diagnose me with something so poorly understood with no clear treatment plan and very little relief even with treatment. How could he tell me that the past month I had endured with this pain was likely going to be something I just had to live with? Did he not know that I was going to be a Fightin’ Texas Aggie next semester, and I was going to get my degree, have a family and live happily ever after? Who did he think he was to derail my plans with that diagnosis?

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The next few years of my life were spent fighting for an explanation that would never come while trying my best to keep all my hopes and dreams on track. I did become an Aggie (Gig ’em!), and I learned my passion is in agriculture. I did my best to hold on tight to my life as I wanted it to be. I learned to juggle medication changes and hospitalizations with being a college student and tried my best to have a social life.

However, the headache was relentless in demanding more and more of my life, and I eventually had to withdraw from the university of my dreams after a two-week hospital stay during the middle of a semester.

Since then, the pain has claimed so much more of what made me, me. I’ve had to give up school. I’ve lost relationships. I’ve lost my energy. Friendships that were once easy are now strained simply because life with chronic pain is so hard to understand. More recently, the mystery headache has claimed some of my eyesight, and I usually have pain in my eyes that feels like there’s a knife behind them.

I have had to mourn the loss of my old life and try to learn how to accept my new one. Sometimes I miss my old self so much it physically hurts. I miss feeling productive. I miss feeling spontaneous. I miss feeling energetic. I miss not being exhausted constantly. I miss feeling like I had a future outside of doctors and medicine.

I’m trying hard to find my identity again. I have lost so much of myself after I worked so hard to become who I was. It’s hard to accept who I am now. It’s as though I used to be a tree with branches and leaves all over, and then chronic pain came by with a chainsaw and left me with just a stick.

I’m slowly growing again, but my tree looks very different than it did before. I have learned to be happy with the low-pain days and not angry that I don’t have pain-free days. I’ve learned what I’m willing to fight through the pain for and what I need to let go in order to function.

I’ve been shown great love and support from people I never knew even thought about me. I’ve learned being someone’s aunt is absolutely one of the greatest sources of joy I’ve found in life so far. I already knew I had a wonderful family, but it has been proven to me over and over since this roller coaster began.

I miss who I was and I hope and pray that someday I’ll be able to feel like I can take on life again, but for now I’ll live in the small triumphs and do my best to see the silver linings.

What’s a part of your condition you live with every day that others might not see? Explain what that experience feels like. Check out our Submit a Story page for more about our submission guidelines.

Lead photo source: Thinkstock Images

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The Internet Is Loving This 8-Year-Old’s Illustration Explaining Autism

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Cadence is on the autism spectrum, but autism is just one of the ingredients that makes her who she is, the 8-year-old from Queensland, Australia, explained in a drawing posted by her mother on Facebook.

In it, Cadence asks, “Why do people call Autism a label?… I don’t think that’s right. My label is Cadence. One of my ingredients is Autism.”

To further prove her point, Cadence compares her “ingredients” to those in a can of tomatoes.

According to Cadence’s drawing, a can of tomatoes isn’t just tomatoes; it’s tomatoes, basil, oregano and an acid regulator. Like a can of tomatoes isn’t just one ingredient, Cadence isn’t just autism. Cadence describes herself as a number of things “Autism, Organs, Bones, Blood, Clever cells, Caring cells.”

This isn’t the first time Cadence has had something profound to say about life on the autism spectrum. On her website, “I am Cadence,” Cadence’s mother shares drawings and stories written by the 8-year-old Past stories include “Autism Doesn’t mean I’m bad” and “Autism doesn’t make me special. It just makes me different,” in which she explains:

I don’t like it when people say I’m special. Special is an adjective. It means better or greater. I’m not better than other people. I’m not more important than my friends. Autism doesn’t make me special. It just makes me different. I’m good at some things. I’m not good at other things, just like everyone else.

Cadence’s drawing has been shared over 5,000 times since it was posted on Facebook. You can see Cadence’s drawing below.

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Why I Stopped Trying to Hide My Stutter After 35 Years

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I have stuttered for as long as I can remember. My earliest memories of stuttering come not from the stuttering itself but to how people reacted to me. My father yelled at me to “Stop talking like that,” which I remember like a kick in the stomach. I couldn’t help it and didn’t understand why someone important like my father would yell at me because of the way I talked. I therefore concluded there was something wrong with the way I talked.

When I got to kindergarten, my teacher reprimanded me, saying, “We don’t talk like that here.” Now two influential adults in my life had given me the message there was something wrong.

I tried to figure out at the tender age of 6 or so how to not stutter so I wouldn’t get negative feedback. The only surefire way I came up with to not stutter was to not talk. So I became quiet. I didn’t stutter when I didn’t talk, and my dad and teacher didn’t yell at me anymore.

Once in a while, I did talk and stutter, and I remember classmates making fun of me. It made me feel ashamed of myself, and I often cried but rarely told anyone how it made me feel. You see, we didn’t talk about stuttering when I was growing up. It was the elephant in the room — something that made everyone uncomfortable.

I remember going to speech therapy in third grade. I remember it didn’t do much good as I still stuttered. The speech therapist didn’t seem to quite know what to do for me. Therapy was short-lived, as my father pulled me and my siblings out of public school and sent us to a Catholic school, where speech therapy wasn’t provided.

So I began learning how to cover up my speech. In addition to not talking much, I learned how to “pass” as fluent and became what’s known as a covert stutterer. I learned how to substitute words by switching a word I might stutter on for one that I wouldn’t. I developed a huge vocabulary and learned the synonyms for many, many words. Sometimes, I would switch the context of a sentence and say something that didn’t make sense just to avoid stuttering. I didn’t want to face the humiliation of being laughed at or made fun of because of the way I talked. It was better for me to not make any sense than to risk stuttering in front of someone.

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I did this for years. Outwardly, I didn’t stutter. But inside, I had all the feelings and fears of a stutterer. I felt shame, guilt and anger. Mostly, I felt isolated. No one knew what it was like to stutter and try not to stutter. It was like mental gymnastics, constantly being on the lookout for a potential stuttering moment and thwarting it with one of my many tricks. It was exhausting to live like this, and into adulthood, I felt fraudulent and inauthentic. I didn’t want to do this anymore and began to explore ways to be true to myself and let my true voice be heard.

In my 40s, after more than 35 years of hiding my stuttering, the way out found me. I was fired from a long-term job due to my stuttering, which I really wasn’t able to hide well any more. Being fired rocked my world, but it also forced me to finally confront what I was doing and how unhappy I’d been hiding behind a false identity.

I decided to return to speech therapy as an adult and also found a stuttering support group to attend. Slowly, I began to accept myself as a person who stutters and began experimenting with stuttering openly for the first time in years. It was remarkable — the earth didn’t swallow me up nor did I get hit by lightning.

What was also remarkable was the freedom I felt almost immediately. I felt light and liberated, as if the weight of the world had been lifted. I started telling people in my circles I stutter, and I wasn’t going to hide it anymore. To my surprise, most people already knew. Apparently, I hadn’t been perfect at hiding my stuttering all those years as I had thought.

I remember sometime after making the transition from covert stutterer to open stutterer, I began telling parts of my story. As I developed authentic relationships with people for the first time, I would share some of the story, which I had basically rewritten.

A work colleague asked me if I could hide my stuttering by scanning ahead and switching words, why didn’t I do it all the time. I remember this question like it was yesterday. I told her that pretending not to stutter wasn’t an option for me anymore. I told her I couldn’t be untrue to myself anymore. That being authentic was important to me, as was loving myself for who I am. I can “not stutter” by using tricks or being quiet, but that’s not me anymore.

I am a person who stutters. My voice shakes, quivers and blocks sometimes. Sometimes, I repeat a word or syllable several or many times. That just means that what I have to say is worth repeating!

For me, stuttering openly is OK. It’s just a different way of talking and that’s OK, too. All of our voices need to be heard.

What’s a part of your condition you live with every day that others might not see? Explain what that experience feels like. Check out our Submit a Story page for more about our submission guidelines.

Lead photo source: Thinkstock Images

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To the Friends I’ve Walked Away From

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I miss you.

I wake up in cold sweats in the middle of the night, losing hours of sleep trying to figure out if things could be different, if there is a way to get us back to where we were before. My eyes jolt open and without meaning to, my brain gears go into motion. I know I’m in for hours of not sleeping.

You say “my friend has cerebral palsy.” You mean me, of course. You say it like it’s a point of pride: she has cerebral palsy, but look how much she’s overcome. But what you say isn’t strictly true. I don’t have cerebral palsy. I don’t even suffer from cerebral palsy.

I wrestle with cerebral palsy. It saps my energy in a knock-down, drag-out, hair-pulling, sucker-punching, war that occurs on a daily basis. My time is spent in our society (perhaps wasted?) fighting fights that should never have to be fought in the first place.

My life can best be compared to being Mark Watney in “The Martian.” I am on an inhospitable planet, where nothing is built for me, there is no infrastructure for my basic needs, and I have to live a life that no one else has ever attempted. A basic thing like figuring out where breakfast (and lunch, and dinner) is going to come from is enough stress to keep one busy every hour of the day.

Maybe I’ve shielded you from this. I put on a pretty smile and go about my day. As an actor I am trained to live in the moment, a skill that is even more useful if you have a disability. Focusing on the onslaught of possible problems is enough to drown anyone.

Or it could be that I was very honest with you, opening myself up to share bits of my disability I would rather brush under the rug, choosing to show you the vulnerability behind the smile, admitting I was tired or in pain when the world would keep turning if you didn’t know.

Both, in their own way, are the price of friendship; both are the price of love. I don’t mind paying either.

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But somewhere, things got off track. I got put on a pedestal and, for a long while, it worked for us. I was the inspiration, the frail beauty that you came to when you needed to feel good about yourself. I was the one you took care of for a day, creating Facebook memories and gleaning unforgettable stories along the way.

And then I stepped out of line.

It could have been a thousand different ways, but it happened. Maybe I called you out on the sexist way you were treating your girlfriend when you were dismissing her concerns by saying “some girls just babble.”

Or there was the friend who, when I pointed out her flagrant ableism, got so mad she hid behind her friendship with me as “proof” she was a good person.

There was also the friend who took me out to a show, only to ignore me all night when his all too cute 20-year-old student suddenly appeared and started flirting with him (despite the fact he’s already in a relationship). The last words he texted me in a drunken stupor were “It’s not my fault. Stop talking before I lose all respect for you.”

Perhaps you are the friend who played games for years, going months without talking to me and claiming I was the one who “changed” for the worse, only to act like best buddies whenever the timing suited you. When you did it again this spring, I said I wasn’t going to play anymore. Then you became aggressive, demanding “but I thought we were friends. How sad.”

In all of these cases I wasn’t stepping out of line. I admit, occasionally I do just that. I am human (despite being disabled). I do f*** up.

But to the friends with whom I have cut contact, let’s be clear. I quit the relationships because I have too many other battles to fight. I couldn’t fight your expectations and demands as well.

For the five, seven, ten years that I knew you, you may have thought we were friends, but more fundamentally I assumed we were equals.

And this is why I wake up in a panic every night, spending sweat-drenched hours listening to the Goldberg Variations and trying to slow my brain down. Because I want to go back to that time when I assumed you weren’t using me as an ego stroke. I miss the days when didn’t know I was some vibrator to stimulate your rescue complex. If I could get back to that state of ignorance and enjoy your company again, I would.

I wake up because for years I didn’t see what now seems so clear. What I have to fight isn’t just my own body. The people whose hearts and minds stand in my way, aren’t just faceless ignoramuses in some far off place, easy to be dismissed as “backwards people.” They are in my own camp, people whom I thought loved me.

In the still dark hours of the early morning, I flick on the blinding blue screen of my iPhone to listen to Bach yet again. I think about going back to you, knowing that it may very well help me rest better for a while. But in the end I cannot make you see what you do not want to know. There is very little I can do to change you.

Yes, I might lose sleep. But I will not waste time.

The Mighty is asking its readers the following: What’s one secret about you or your loved one’s disability and/or disease that no one talks about? Check out our Submit a Story page for more about our submission guidelines.

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I’m Thankful My Son With Down Syndrome Was Born in 2016, but One Thing Needs to Change

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If you’ve read any of my other posts on Down syndrome, you know I have accepted and embraced my son Augie’s diagnosis and did so very early on in my pregnancy. It’s just part of who he is. 

One thing I didn’t know or expect when the geneticist first shared he had Down syndrome was that his extra 21st chromosome could potentially cause health issues, mainly heart defects and gastrointestinal issues.

Lissy Shutwell’s son, Augie

Not all kids with Down syndrome or other chromosomal anomalies have health issues, but it is pretty common. And it’s so hard because (for Augie) it’s meant multiple surgeries, lots of pokes, frequent doctor visits and hospital stays. So as I started this blog post, it was primarily around the health issues — and frankly, complaining about them. Why does an extra chromosome have to be accompanied by health issues, I asked.

But as I thought about it more, I realized health issues come with being human, regardless of how many chromosomes you have. Yes, because Augie has Down syndrome, he is more prone to heart defects and other issues. But we, as humans, are prone to many different illnesses, diseases and health issues.

So instead of complaining about why his extra chromosome is accompanied with health issues, I’m thankful he was born in the year 2016 when we have remarkable technology and medical professionals to treat those various health issues. It is more possible and plausible than ever before to move from major health issues to non-issues.

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If my son had been born more than 30 years ago, his life expectancy would only be in his 20s at best, according to the National Down Syndrome Society. Now, individuals with Down syndrome live into their 60s, and who knows how that will further improve as Augie gets older. And this has to be, in large part, due to medical advancements. It’s amazing what can be done nowadays. I’m seriously in awe of the medical staff that care for Augie. What they know, what they can do, the technology that is available to them. Seriously. In. Awe.

Early intervention services to focus on gross and fine motor skills, communication skills and more are helping to ensure quality of life is also improved. Not only are individuals with Down syndrome living longer, but they are living fulfilling, good lives.

And the steps we (as Augie’s parents) are taking early on can have a tremendous impact. That doesn’t mean there won’t be challenges and struggles. There will be. Augie may have to work harder to achieve the same milestones as other kids his age. And there may be some things he just won’t be able to do. And that is OK. He is diverse. He’ll have his own strengths and weaknesses, just like the rest of us! I will always be there to champion him, encourage him and celebrate his victories. 

The thing that is lagging behind in this year of 2016 — the thing that needs to catch up to the medical and therapy advancements — is society’s perspectives on individuals with Down syndrome. There are many outdated perspectives, some of which I had myself before further educating myself in preparation to raise my son.

There are stereotypes associated with Down syndrome, and many people automatically associate various mental and physical delays with those words. Assumptions about abilities are preconceived. Lack of intelligence is associated with communication struggles. And more.

As human beings we fear the unknown. Most of us like routine and normalcy (however we define it) and comfortableness. So when something or someone is different, we don’t always know how to respond.

But here’s the thing: Perspectives can be changed. Do you fear the unknown? Then, make it known to you. Educate yourself. Ask questions. Don’t make assumptions. Be open-minded to what you might learn. Individuals with Down syndrome are capable human beings. Their extra chromosome makes them diverse, not lesser than anyone else. 

Here is my commitment to you as my child’s advocate. I will not judge you when you ask questions, I will always respond with grace, I will gently correct or educate as needed and I will share new perspectives with you.

And as I raise my son, he will learn the same from me. So will my big kids. To love, not judge. To embrace differences. To ask questions. To respond with grace over anger. To not fear the unknown. To give all people a chance. To make all people feel valued.

And I hope that society will do the same for Augie. 

Follow this journey at Finding Balance

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