Meet our Families

The pregnancy was normal although I was considered “advanced maternal age” because I was 35.  I remember feeling so much relief when all the scan and tests came back normal.  The first 18 months of her life were unremarkable, except for the fact that she fell more than I thought she should, even though she walked “on time.”  Of course, her pediatrician assured me that everything was fine…every child is different, after all.

In December of 2015 she spiked a fever that would not abate, even with several rounds of antibiotics.  She was also diagnosed with RSV.  After a prolonged recovery we noticed her hands get weaker and weaker, and over a period of weeks the weakness moved up her arms.  She slowly lost the ability to lift her arms above her head, carry things, pick things up, and eventually, she could no longer feed herself.  During this time, she also started falling down seemingly for no reason.  She started to look like a young toddler who was just learning to walk and who couldn’t keep her balance.  Sometimes, she would suddenly fall forward but could not put her arms out to catch herself and so this resulted in many collisions with furniture and the floor.

In March 2016, Ellis saw her first neurologist who ordered an MRI which revealed nothing on her brain or spine.  While we were very relieved, we still did not have any answers.  That neurologist told us that although she exhibited no reflexes in her arms and seemed to have very little feeling, she probably had “brachial neuritis.”  When we asked him what the treatment plan was he said, “Nothing, really.  It will probably get better.  But it might not.”  Needless to say, we resumed our search for a new neurologist.

Fortunately, we were able to get in to see her current neurologist quickly, and after an ECG showed severe axonal damage in her arms and some in her legs as well, Ellis was admitted to Children’s Hospital for a full battery of tests.  Although nothing new showed up on the MRI, her tentative diagnosis was Guillain Barre Syndrome (GBS), possibly a chronic case.  We spent the entire summer of 2016 in and out of the hospital for 5-night treatments of IVIG and even one 10-night treatment of plasmapheresis after the IVIG showed no immediate major benefit, as would be expected with GBS.  Unfortunately, after the plasmapheresis treatment in July, she completely stopped attempting to take steps and completely stopped feeding herself altogether.  As of today, after almost one year of Riboflavin treatment, she still cannot walk without our support.  She cannot feed herself and has no meaningful use of her arms with limited use of her hands.

In early August 2016, my mother texted me and said I needed to watch a segment on Good Morning America because there was a little girl on there who had something that looked just like what Ellis had, and she had a “B2 deficiency.”  I sighed heavily and texted back that we’d repeatedly tested her B12 levels and they’re fine.  She (patiently) clarified that she said B2, and so I called my husband Chad and asked him to watch the segment.  About 10 minutes later he called back and he was crying, and could only sputter “It’s Ellis, that’s what Ellis has!”  I, ever the pessimist, watched the segment and also found myself moved to tears as I watched video clips of this little girl (who I later found out was none other than Ms. Cara Greene) decline in the same ways our Ellis had…going from what was a normal, active, vibrant child who could stack blocks and clap (or in Ellis’s case, pick up her entire birthday cake and put it in her face) to a child who could not manage to put a piece of food into her mouth.  Cara did have an additional symptom of nystagmus that Ellis did not have, and so I refused to let myself believe that Ellis had Riboflavin Transporter Deficiency (RTD)/BVVL.  However Ellis had recently been found to have pale optic nerves and vision loss, which we would later find out was one of the causes of the nystagmus in Cara.  It felt too easy, too simple, that we would see a GMA segment and have our answer.  And of course, at the beginning of our RTD journey, we thought, “We just have to give her B2 and she’ll be fine!”  It seemed too good to be true.  And as it usually goes with such things, it was.

Ellis’s neurologist agreed to immediately place her on a B2 supplement while we waited the eight weeks for the whole exome sequencing results.  When the results confirmed it was RTD, I was actually almost joyful and relieved; now we had a name for it, and if we had a name for it, we could fight it.  We would not be one of the families who had to suffer for years and years with no diagnosis, knowing there was a gene mutation, but not knowing what it meant.  But that joy and relief quickly turned to terror when I began to realize all the hurdles that an RTD child faces, from deafness to scoliosis to optic atrophy to respiratory failure.  By September 2016, even after starting treatment, we had noticed some facial weakness (bulbar palsy), and we had our first run-in with an aspiration and aspiration pneumonia.  That started us down the very long path that has ended with Ellis needing a g-button (a Mic-Key button) and Ellis not taking any liquids by mouth.

Since her initial decline, Ellis has spent approximately 60 nights in the hospital.  We have had three ambulance rides followed by three stays in the ICU.  She sees 10-12 doctors, therapists and specialists and it seems as though a new one gets added every time we have a setback.  She currently has five therapy appointments per week along with one or two doctor/nursing appointments.  Rather than being filled with stuffed animals and dolls (although there are plenty), her room is filled with medical equipment and supplies.  She was recently fitted for a wheelchair, and that was a situation that no one ever envisions for his or her child.  This is certainly not where we imagined we would be one year after diagnosis and treatment had begun.

Ellis is strong, determined, sassy as can be and so funny.  She can stand by herself if she leans against something and she has no strength deficits in her lower body (the issue remains the gait ataxia).  Last month she started pushing herself up into a standing position, which she hasn’t done in almost ten months.  She can take about six or seven very wobbly steps by herself.  Her arms and hands are very weak and have almost no anti-gravity movement, but she can pick things up and uses her legs to compensate very well, and we are still seeing very small strength improvements.  Despite what we believe to be moderate hearing loss combined with auditory neuropathy spectrum disorder (ANSD), her language is slowly progressing and she can communicate with us.  But she can’t really play with her sister Harper.  And she can’t really watch Disney Princess movies because she can’t hear the dialogue correctly as a result of ANSD.  And we can’t go to the park as a family.  And I worry that every little cold will end us up in the hospital for a week.  The fight to cure RTD will be a difficult one, but we believe it is one that we can win if we’re willing to do the work.

We also noticed that anytime Cara got a cold, she coughed for months.  While she met all her other milestones on time, she didn’t attempt to walk until 14 months, and even then it was with an incredibly wide gait.  Cara was our first child, so while these things gave us pause, we were told that they were “within the normal range” and not to worry.  When Cara was 15 months old (November 2013) she caught a respiratory infection and woke up one morning lethargic with a very high fever. As I rushed around the house preparing to take her to the doctor, Clayton noticed that Cara’s eyes were bouncing up and down (nystagmus).  He made it very clear that I needed to point this out to the doctor. When we arrived at our pediatrician’s office, she immediately noticed the nystagmus and said she was referring us to a pediatric neurologist.  The next available appointment was three week later, which was too long for us.  Through a family friend, we made an appointment with a pediatric neuro-opthalmologist at Duke University Hospital. Her immediate concern was a brain tumor and she scheduled Cara for a rush MRI the next day. Much to our relief, we learned that Cara did not have a brain tumor.  The relief, however, did not last long.  Over the next few weeks we closely watched Cara and began to notice more and more concerning symptoms.  Her walking became ataxic (unbalanced) and she began to fall frequently.  When Cara fell, she seemed to fall flat on her face, not catching herself like our friends’ children.  Her nystagmus continued to worsen and become more and more obvious.

In early January, Cara underwent an Electro-retinagram (ERG) at Duke, to see whether the rods and cones in her eyes were functioning properly.  In the week following the ERG, I noticed that Cara’s right pinky finger was trembling when she picked up food.  She seemed to rake food across her high chair tray instead of pick it up with a pincer grasp.  In a panic, I called our neuro-opthalmologist and she asked us to come in the next day.  She confirmed that what I was seeing in Cara’s pinky was in fact a small tremor.  She asked us to wait in the waiting room for what felt like an eternity. About 20 minutes later she returned and told us that pediatric neurology was taking over Cara’s case and that she was being admitted to the hospital for testing over the weekend.  We ended up being there for nine days as the medical team ran every scan, blood test, spinal tap, and exam that they could think of.  Everything came up “normal” (including her Riboflavin levels) and all of the doctors were baffled.  The pediatric neurology team eventually reached a working diagnosis that Cara either had a neuroblastoma (small tumor) that was not yet detectable but was causing her body to respond with neurological decline, or that she was having an auto-immune response to a virus.  They treated her with a five day course of IV steroids and sent us home.

Once home, for a few days we felt happy to at least have a “working diagnosis” and we felt that we were seeing minor strength improvements in Cara.  But after a few days, she seemed to lose any improvements and decline even more.  After a 24 hour stomach bug, she lost almost all strength in her arms and the ability to play with her toys.  She started falling more and more frequently, and eventually stopped walking altogether.  Her doctors started her on a treatment plan where every two weeks she would spend two days in the hospital receiving IV steroids and intravenous immunoglobulin, as well as a daily oral dose of steroids.  In the months following, we continued to see small improvements for a day or two, followed by more decline.  During this time, we had an appointment with a pediatric geneticist/metabolic specialist at Duke.  She suggested that we enroll Cara in a clinical study where the team would perform genetic testing called Whole Exome Sequencing – this testing would tell us if Cara’s symptoms had a genetic cause.  We reluctantly agreed to do the testing, as we wanted to believe that we were already on the right track with her steroids/IVIG treatment.  As the weeks went by and Cara’s condition continued to deteriorate, the neurology team began discussing chemotherapy as the next step in Cara’s treatment.  We scheduled an appointment with the neuro-immunology team for Monday, April 21, 2014.  The Friday before this appointment, Cara’s geneticist called us – the whole exome sequencing had identified the cause of Cara’s decline.  Because the testing was done as part of a research study and had not yet been confirmed by an outside lab, the team had to get permission before they could share the diagnosis with us.  We were told to come to our appointment on Monday to discuss this new finding with her entire medical team. It was the worst weekend of our lives.  As all RTD and rare disease parents know, living in uncertainty is unimaginable agony, and now we were bracing ourselves for the worst news of our lives.

When we arrived at Duke on Monday, the team gave us Cara’s diagnosis – Riboflavin Transporter Deficiency Type 2 / Brown Vialetto Van Learne Syndome.  No one at Duke had ever treated a patient with RTD and there was not even a diagnosis code in Duke’s system for the disorder.  We felt a mix of relief, confusion, fear and determination (three years later, I think we still experience all of these emotions each day).  We started Cara on Riboflavin the next morning, and added CoQ10 the next week. For the first eight months after Cara’s diagnosis, we knew of no other RTD cases and blindly tried to navigate our new world.  We received significant support and help from our medical team at Duke, but they were new at this just like us.  In December 2014, we were contacted by Keith Massey, who then connected us with the small by mighty network of other RTD warriors out in the world.  We are so thankful for this RTD family and now this Foundation, which we believe will lead to better treatments and eventually a cure for RTD.

Since beginning treatment, we have slowly and steadily noticed incredible improvements in Cara.  She is still much weaker than typically developing children, but has regained use of her arms for many tasks, she began walking again (and now even running!) and she can transition from sitting to standing without assistance. While her improvements have been extraordinary, she still has a number of disabilities.  Her vision is 20/300 (with virtually no peripheral vision) and she is still a fall risk.  Although she’s regained use of her arms, she only catches herself about 30% of the time, and she struggles to complete fine motor tasks. We recently learned that before beginning treatment, there was damage to her auditory nerve and she now has significant hearing loss due to Auditory Neuropathy Spectrum Disorder.  She was around 50% word recognition in her left ear and minimal word recognition in her right ear (which is now being considered for a cochlear implant). Despite all of these challenges, Cara is a delightful little girl who loves life more than anyone we know.  She will begin Kindergarten in the Fall where she will have a full time language facilitator assisting her with communication at school.  Like all RTD warriors, Cara is an amazing, resilient and brilliant child, and we want her to take the world by storm.  We know the fight to cure RTD is worth it for Cara and every single RTD warrior out there.

To our relief, the CT scan came back completely normal, however the nystagmus persisted.  The following week Alex was sent to an ophthalmologist who discovered mildly pale optic nerves.  Within one month, Alex’s optic nerves went from slightly pale to severely pale, indicating optic atrophy and profound visual impairment.

Shortly after the age of three, Alex slowly began losing his hearing as well, and by the time he turned six was severely deaf and was given a cochlear implant.  Subsequently, he lost the ability to walk and eventually most of the use of his arms and hands.  He developed rapidly progressive scoliosis which was so severe he required surgery at age 12, permanently stunting his growth. We also started noting severe anemia, particularly following times of stress.

Despite the progression of his neurological symptoms, Alex remained healthy overall.  Over the years, we took Alex to numerous neurologists, ophthalmologists, geneticists and metabolic specialists at multiple hospitals in and around the Washington-Baltimore region.  No one could determine what was happening to Alex and every single test came back normal. Doctors had never seen anything like Alex’s disorder before.  Potential diagnoses were everything from mitochondrial disease to adrenoleukodystrophy to some kind of food allergy, with many doctors speculating that Alex had his very own unique disease.

By the time he was 16 years old, Alex had seen over fifty specialists in the top hospitals in the world, in areas spanning from neurology to immunology. Not one of these great institutions could pin down what could be causing these developing symptoms in Alex. After a time, it seemed the doctors started giving up, as no new tests were becoming available that we hadn’t already done. The only bright spot in this decline was the fact that this relentless disease was sparing Alex’s mind.   His cognitive abilities remained above average and he was able to stay in a regular school setting with grade-level classes with a lot of physical supports. The downside was that Alex was fully aware of his declining body, and began begging for an answer himself.

In the Spring of 2013, Alex was admitted into the NIH Undiagnosed Diseases Program, our final hope for an answer.  After numerous tests taken during April 2013 turned-up nothing, it wasn’t until November 2014 that NIH finally sent his blood for exome testing and we learned the truth once and for all.  The exome showed that Alex has mutations in the SLC52A2 gene which results in Brown-Vialetto-Van Laere Syndrome, a disease so rare less than 100 people worldwide have been diagnosed.  After seventeen years of watching Alex slowly decline, we finally had an answer as to why.  We also discovered that this disorder had a treatment that might help, as there had been previous cases where the administration of high doses of riboflavin resulted in improvement. And while it was bittersweet to learn we might have spared Alex a lot of suffering had we been handed this diagnosis much earlier, we were nonetheless relieved to have an answer and some hope for improvement.

Alex is currently a senior in high school where he has made the honor roll every quarter since his freshman year..  He is a math whiz and an artist and participates in drama and his school’s earth organization.  Having lost most of the function in his hands, he currently draws with his nose using a touch screen computer and sells his artwork online.  He plans to go to college to study math and by all accounts, has a bright future ahead of him.

The very first thing I would always pray for was good health. On December 22, 2018 our baby boy arrived and we were blessed with a healthy and happy Hudson. He was a full term baby and it was a natural birth. There were no complications during the pregnancy. Hudson passed his newborn screening tests and had all of his vaccines. His height and weight were within the average percentile range and there were no concerns. He was perfect and loved beyond measure. He changed our world for the better and made us appreciate the little things in life. Growing each day, hitting milestones like crazy and just impressing us minute by minute. His first year of life flew by just like everyone said it would. We celebrated all of his accomplishments and celebrated being the best parents that we could possibly be for our boy. We looked forward to the many years ahead and all the things our boy would soon accomplish.

Just one month later, after Hudson’s first birthday we noticed him having difficulty breathing and it sounded like he was really gasping for air (stridor). On January 27, 2020, we took him to the pediatrician to have him checked out. Our pediatrician referred us to an Ear, Nose and Throat (ENT) Specialist. The very next day we took Hudson to the ENT and he examined him. Hudson was diagnosed that day with vocal cord paralysis, which means that his vocal cords were not opening at all and it was leaving him with just a very small air passageway to breath. Along with the vocal cord paralysis, Hudson had other symptoms of ptosis in his left eye (droopy eyelid) and extreme fatigue. The ENT, scheduled a procedure for an airway endoscopy, brain MRI and chest MRI for the very next day at Rady’s Children’s Hospital here in San Diego. Working side by side with the doctors and specialists they were trying to figure out what was causing these symptoms. Hudson received a preliminary diagnosis which he was treated for, for about a month and he was not improving like he was supposed to. He had a tracheostomy tube inserted on February 13, 2020, which provided him with a safe and secure airway, allowing him to breathe comfortably and eat soft foods. Two and a half weeks after his tracheostomy we were lucky enough to have the Rapid Whole Genome Sequencing (rWGS) done. Hudson was then diagnosed with Riboflavin Transporter Deficiency (RTD) Type 3. RTD is a very rare neurodegenerative genetic disorder. Hudson was immediately given a new treatment plan and the doctors started weaning him off of the medications for the primary misdiagnosis. Within days we noticed a dramatic improvement. However, since Hudson was having a difficult time swallowing it was challenging for him to take all of the medications orally and even eat. On March 14, 2020, Hudson had a G-Tube inserted. Hudson’s medications and majority of nutrition is given through his G-Tube daily. He was also diagnosed with central apnea which requires him to be hooked up to oxygen any time he is sleeping. He made enough progress to be discharged from the hospital at the beginning of April.

Life at home has dramatically changed for our family. Hudson requires 24/7 care. Due to that, I (mom), have had to take a leave of absence from work in order to care for him. Our days consist of medications, treatments, therapy, doctors/specialists appointments, changing out his trach ties and g-tube covers, and constant observations of Hudson’s needs. Regular outings, such as going to the grocery store, now require two trained adults to monitor Hudson. One person has to sit in the back seat of the car next to him in order to tend to his needs or in case of an emergency. Another major change is dealing with an active toddler who has so many medical needs. Hudson has made such amazing progress and he acts just like any other two year old, but there are things we can’t allow him to do. It hurts our hearts but we always come up with a way to have him do it differently. For instance… Hudson loves water, and a trach around water is scary, so we just make sure we have all of the safety measures in place in order to allow him to have those experiences. Keeping him from putting his head under water is always a challenge but he is starting to understand that he can’t. Due to Hudson’s trach and his inability to breath without the trach we are constantly vigilant. Hudson requires equipment to be accessible at all times, such as, ambu bag, suction machine, oxygen, pulse oximeter, and all backup trach and g-tube supplies. Safety is the number one priority to ensure that Hudson is able to develop and function to the best of his ability. His deficiency is treated with a high therapeutic dose of riboflavin (Vitamin B2) 4x’s a day along with many other supplements. The riboflavin helps strengthen his impairments but it does not prevent any other symptoms from presenting themselves. Just this summer in June Hudson had a hearing test done and was diagnosed with Auditory Neuropathy. This is pretty common for people who have RTD but not always. Unfortunately, Hudson does have Auditory Neuropathy and now wears hearing aids. However, the hearing aids most often never solve the problem and he will most likely need to have surgery in about 4-5 months to get cochlear implants. Riboflavin Transporter Deficiency is a lifelong deficiency that we as parents continue to learn more and more about each day and support Hudson every step of the way. As for our boy, he has smiled and danced his way through it all. His strength and determination is impressive beyond all measures. God blessed us with Hudson because he knew this little boy was perfect for us. No matter how much care or how tired mommy and daddy are, we do whatever it takes to help our boy improve each and every day. Our hearts explode with so much love for our Hudson!!

Here is the link for Hudson’s Support and Prayers Facebook Group:

https://www.facebook.com/groups/HudsonWingate

He would only sleep in the day if held upright in motion (rocking or bouncing) and would wake very easily. We were unable to sit down with him even if he was in an upright position- he had to be moving.Night sleeping was better than during the day for some reason. Our pediatrician diagnosed Cameron as having “reflux” only by a case history and no formal tests. His advise was to not give any colic medications/panado as it would aggravate reflux, but to push through this difficult time. Cameron was vomiting shortly after a feed, but his weight gain was not significantly affected. When Cameron was 8 weeks old we started him on 10mg of nexiam daily to be taken at night. Nexiam seemed to help, but not significantly. At 10 weeks of age choking very badly DURING breastfeeds and when swallowing the nexiam out a syringe and Cameron was unable to swallow any other liquids successfully. Our pediatrician recommended that I express and thicken my breastmilk, but choking still persisted DURING feeds – not after, which would then have suggested a more severe reflux.

Our pediatrician booked a barium meal x-ray, results were normal anatomy, but reflux was apparently evident (although the x-ray seemed to only evaluate anatomy as it was a once off snap-shot photograph and no repeated images/video was done to evaluate possible movement of refluxing feed during the x-ray so we dont know how our doctor came to that conclusion). On 13 – 08 – 2015 we took Cameron to the emergency hospital due to continued severe choking during feeds. He was discharged the next day and I was instructed to stop nexiam for the purposes of the PH study to be done. Nan anti-reflux formula was recommended and initiated prior to PH study.

On 16 – 08 – 2015 Cameron was admitted for a 24 hour PH study and the results were “mild reflux”. Our pediatrician advised the pediatric surgeon to perform a bronchoscopy, laryngoscopy and gastroscopy which was done on 18 – 08 – 2015 under general anesthetic for 61 minutes. The results were “edema of the larynx”, but nothing of significance. A throat swab was recommended to check for any infection, but this was not done before discharge. After all the testing Cameron was discharged on Nan AR formula and 10mg nexiam to be given at night. Cameron’s difficulty swallowing thin liquids never improved however the nan AR formula was slightly thicker and he managed to drink that out of a bottle. He managed to eat soft foods once solids were introduced, but he made a strange grunting sound and pulled a face when swallowing (we thought he was just being silly) but he never showed obvious signs of choking like he did with liquids.

We went for a second opinion at a different pediatrician and he recommended to stop nexiam at the end of every month to identify the continued need for the medication as he was not convinced it was reflux. Mild vomiting after feeds continued, but his weight gain was not affected. Cameron was still very restless, especially at night. While we were attempting to wean Cameron off the nexiam which had been unsuccessful he developed inspiratory stridor (a wheeze when inhaling) on 12 – 04 – 2016. He did not make this same sound when exhaling. Our pediatrician then referred us to an ENT surgeon in our town. The ENT was unsure as to why Cameron would suddenly develop inspiratory stridor and also felt it was due to his throat being “swollen” from his reflux and mild vomiting, but did not think to address the choking issue. The ENT recommended to start 10mg nexiam again and if no change in 1-2 months time then a repeat laryngoscope was needed.

We were not happy to accept this and made an appointment with a paediatric surgeon as a last resort as there had been no change in Cameron’s inspiratory stridor (if we had waited another two months Cameron may have not survived). Cameron was also becoming more restless during the day and seemed to be unable to focus and be still or calm. He would pace up and down and constantly moan. The pediatric surgeon just listened to our concerns and recommended we see a paediatric ENT in Cape Town. We flew to Cape Town for the appointment within that same week as Cameron just kept getting more restless and seemingly very out of character, but there was nothing we could find that was obviously wrong with him like a temperature or a rash etc. As parents we just became more and more desperate to find out what was wrong.

That weekend in Cape Town before we went into hospital Cameron made a very sudden regression – he lost his ability to smile properly, he couldn’t blink his eyes, he couldn’t hold up his head properly, when sleeping he kept his neck and head in an extended position, he became very weak when trying to suck his bottle and milk would run out the sides of his mouth, his hands and arms were “wobbly” at times, he was unable to stay awake until bath time and started getting frights easily. We also noticed that when he cried his cry sounded very different.

When we were admitted into hospital after the weekend the pulmonologist looked at Cameron’s diaphragm and identified that he was breathing backwards – paradoxical breathing (stomach when inwards when breathing in – instead of outwards). This indicated diaphragm paralysis which came as a massive shock to us. Later x-rays confirmed diaphragm paralysis. Cameron had a larynoscope and this found vocal cord paralysis in the medial position – this made sense because Cameron was still able to get good voice when babbling, but that is why when he took a breath in his vocal cords were collapsing in on themselves hence the wheeze we were hearing and the strange sounding cry.

Cameron underwent an MRI which thankfully showed no abnormalities. The doctors tried to support his breathing with a face mask, but because his vocal cords were paralyzed he couldn’t cope with the sudden force of air through the face mask and the air went into his stomach and blew it up so much that it put too much force on his lungs and he stopped breathing. The doctors had to resuscitate him, but his heart did not stop beating so they did not need to shock his heart. He was immediately admitted into ICU and received a trachy the next day and was placed onto a full time ventilator. When the ventilator came off (which happened by accident a few times) Cameron would desaturate (oxygen in his blood dropped and he went blue) – you can imagine how stressful this was for us and we could never leave him unattended because unlike the other children in ICU, he was still very active – standing and walking around in his cot etc. Because he could not swallow properly they inserted a nasogastric feeding tube (from his nose to his stomach) and a modified barium swallow study performed by a speech therapist later identified aspiration (food into the lungs when swallowing) on liquids and semi-solids. He then received a gastrostomy (directly into the stomach) feeding tube and the nasogastric tube was removed (thank goodness because he kept pulling it put and each time they had to put it back in was very traumatic). He had muscle and nerve biopsies done to try and identify the cause for his muscle and nerve damage, but they were both unsuccessful. The pediatric neurology team spent hours trying to identify what could be wrong and what they could medicate Cameron with to prevent further regression. They then (with the help of neurologists around the world) thought that he might have riboflavin transporter deficiency (RTD) and started him on 40mg/kg of riboflavin a day (currently on 80mg/kg three times a day and other supplements). He then had an auditory brainstem response (ABR) test under sedation which diagnosed “profound deafness” which we later discovered was actually an auditory neuropathy so his hearing would fluctuate rather than him being profoundly deaf. We also found that he could hear higher frequency sounds (like a /s/ and /sh/) and would hear us if we clapped our hands. This made sense to us as to why he suddenly started getting frights a month ago – we feel it was because he could hear before but during his regression he suddenly lost his hearing skills. We are grateful that Cameron has full strength in his limbs and his vision has not been affected.

Cameron was discharged after 8 weeks in the Red Cross Children’s Hospital. He required full time ventilation for about the first 3 months and then slowly managed more and more time off his ventilator in the day. About three months after he was discharged we received genetic testing information that he definitely has RTD TYPE A3 and that my husband and I are both carriers. After the most stressful two years of our lives we can happily say that Cameron no longer needs his ventilator unless he is sleeping. A recent sleep study showed that he can even manage without the ventilator for 1 hour whilst asleep and we are praying that he continues to heal and manages to eventually sleep all night without it and we can then have his trachy removed. If this doesnt happen then once he is old enough to wear a face mask he can then at least be ventilated that way and we can still remove his trachy. He received one cochlear implant after 6 months out of hospital and we recently found out that his hearing without wearing his CI has also improved so again we pray for further hearing improvements and hopefully he wont need a second CI. He is starting to talk now and trying to copy the tone and pattern of how we say things, but battles to locate where sounds are coming from – intensive speech therapy has been extremely valuable and helpful which we do via skype once a week with a therapist in Cape Town. Cameron is also able to swallow liquids now without choking and is able to eat more and more – requiring less via his gastrostomy tube – we would love to remove his gastrostomy, but its very valuable for giving all his medication successfully as well as not having to wake him up to give him his medication during the early hours of the morning.  Hopefully one day this can be taken out, but we are in no rush as it doesnt bother us or him at all (until we have to change it once every three months- that is stressful).

I have no doubt in my mind that Cameron has made such massive improvements thanks to the doctors that started him on riboflavin within the first week of him being in ICU which means early intervention is VITAL. I also have to thank Keith Massey for being such a fantastic support to us and constantly guiding us on all there is to know about RTD – we owe so much of Cameron’s improvements to you Keith. I am so grateful for facebook that connected us to you. I fully agree with you that riboflavin alone is not enough and because you suggested the vitamin cocktails alongside the riboflavin and this is also why Cameron has improved so much. I hope that by sharing our stories in detail we can help families and doctors pick up on this condition as soon as possible and save lives. Raising a baby should not have to be this hard.

This has not been an easy journey but God’s strength has been the pivot for us amongst all the chaos and we are happy to try help and support as many families as possible.

God Bless,

Love Kaylem and Nicole Coetzee (Cameron’s parents)

However in mid 2009 we noticed changes in Ava, her development slowed, her speech became less clear, she no longer answered when called, her vision seemed to be less focused and she began to stumble frequently. Ava, as you can imagine, became frustrated and upset by the changes happening to her. In November 2009 Ava was admitted to hospital with a suspected brain tumour – a Neuroblastoma. This was to be the beginning of a long quest to get a correct diagnosis for our little angel, and only in March 2012 did we get the answer; Brown-Vialetto-Van-Laere syndrome (BVVL), now known as Riboflavin Transporter Deficiency (RTD Type 2). Shortly after that diagnosis we started the trial therapy of Riboflavin. Since then Ava has been taking her medication four times a day with her food. Sadly despite the riboflavin much damage had already been done to her nerves and consequently Ava suffers from multiple disabilities. Despite using a cochlear implant, she is still profoundly deaf and communicates mostly through sign language. Ava is visually impaired having both optic atrophy and nystagmus. She cannot stand or walk without assistance and relies on a wheelchair outside of the home and mobility aids within. She has lost her upper arm strength and has contractions in the tendons of her hands which obviously make using sign language more difficult. However, Ava is a tenacious young lady, and astounds us daily with her attitude to her disabilities. She absolutely refuses to be told she cannot do things and with the right support and assistance Ava has been able to accomplish real wonders. We are very proud of her and will do everything we can to give her the quality of life she deserves. We are eternally grateful for the continued support and kindness of our marvelous family, friends, medical and educational professionals who make Ava’s life a happier, healthier and more fulfilled time by giving her opportunities that her peers and all of us take for granted. RTD has changed the path of Ava’s life and set her on a journey that contains many obvious challenges but just as many highs. But whatever path she takes we are certain that with the love and support of her friends and continued research and improving treatments Ava’s life will be a long and happy one.

It was the beginning of a decades-long puzzle.

Despite ruling out bone issues, the surgeon felt that orthoses might offer my feet support.  The physical therapist in charge of fitting them felt they were optional. However, other things about me concerned her: I seemed to be using my hands differently and held my shoulders in a rounded posture.  Testing revealed damage to the sensory and motor nerves in my arms, which was also likely present in my feet, hence the flatness.

A hospital stay and more tests failed to reveal the cause of the damage.  Finally I was released, and my doctor prescribed a round of prednisone and physical therapy, both of which seemed to help my walking balance, posture, and fine motor skills.  More tests were done several months later, plus an ineffective round of IVIG, but I was ultimately left with only a vague diagnosis of “neuropathy”.  My only long-term “treatment” was physical and occupational therapy and a daily multivitamin.

But the mystery kept growing.  At age four, my mom noticed in a photo that one of my eyes was not looking in the same direction as the other.  A visit to the eye doctor revealed slight random involuntary eye motion (nystagmus), a “lazy eye” (strabismus), damaged retinas, and pale, atrophied optic nerves.  These issues interfered especially with my ability to see distant objects and small details.  I coped by sitting close to the TV and at the front of classrooms, positioning books close to my face, wearing glasses for some activities, using large print and digital books, and using magnification programs on the computer.

Then, at age six, I met one of my biggest challenges: I failed a hearing test.  I tried hearing aids, but while they made things louder, they did not always make things clearer – especially voices.  So, at age 11, I received my first cochlear implant, which allowed me to hear a near-normal range of sounds.  With extensive practice, it also made it somewhat easier to understand speech in one-on-one conversations.  I continued to use a combination of listening, lip-reading, finger-spelling, and real-time captioning to access the hearing world.

Throughout all this, I continued to have walking issues.  My legs remained strong, but my balance was poor and my gait unsteady.  I was able to walk and even sprint by myself on easy terrain, but I needed a hand or a solid object to help me stand still or navigate difficult ground.  I also continued to have some hand, arm, and upper-body weakness.  I could write, type, tie shoes, throw a ball, use cutlery, and even flip my school desk chair onto my desk, but I did so with a distinct style.  And there were some things that were simply too small, complex, or cumbersome to handle.

Because of these limitations (as well as my vision and hearing issues), I was assigned a one-on-one assistant to accompany me at school and assist me when needed.

At age 12, we discovered that my upper-body weakness had led to scoliosis (C- or S-shaped spine as viewed from behind).  The scoliosis worsened until I had corrective surgery a year later.  While I now needed a person to help me walk long distances, I continued to cover short distances independently and to participate in activities such as therapeutic horseback riding.

After many years of relative stability, some stressful events halfway through college triggered gastric issues, including nausea, vomiting, and poor appetite.  Between the resulting malnutrition, further stress, physical inactivity, and two infections, my overall health declined.  Swallowing issues and tongue weakness joined the myriad of other issues.  After graduation, I was able to regain some weight and strength by “grazing” and exercising, but otherwise remained stable.

Not long after graduation, I was seen by a new neurologist who suggested I had a mitochondrial disorder.  To test this, he ordered whole-exome sequencing.  On January 6, 2015, more than twenty years after first showing symptoms, I was diagnosed with Riboflavin Transporter Deficiency Type 2.  I immediately started riboflavin supplementation and physical therapy.  A few months later, I connected with the group of families currently behind the Cure RTD effort.  Over the next two years, I expanded my regimen to include co-enzyme Q10; vitamins C, E, and B-complex; riboflavin 5 phosphate; lutein; and carnitine (the latter after discovering I was carnitine-deficient).

Since starting treatment, I have seen improvements in balance, coordination, strength, energy, vision, speech, gastric motility, and swallowing.  Since having my original cochlear implant replaced with a new Cochlear model in November 2015, I have also experienced hearing gains, despite the fact that my auditory nerve continues to fail testing.  I received a second implant in March 2017.

Further, after learning that sleep apnea is common among RTD patients, I underwent a sleep study in late 2017.  We discovered that I had obstructive sleep apnea, likely caused by weak muscles in the upper airway relaxing too much during sleep. I began using Adaptive Servo Ventilation (ASV) at night in early 2018, which further improved my energy and gastric issues.

I still need assistance or adaptation in many areas, and many of my improvements have been “re-gains” rather than brand-new abilities.  But I continue to have hope for progress, appreciate small steps forward, and look for ways to expand my boundaries and live fully.

First every doctor thought off an inflammatory disease.  Things like congenital amyosthenia or guillaume barre syndrome were discussed. He got immune globuline and high dose of cortisone, but with no effect. After his breathing problems began we changed the hospital from Datteln to Essen (a big teaching hospital). Because they wanted to make several plasmapheresis with him, he was set to an artificial coma. The doctors in the teaching hospital still thought of something inflammatory. They made several tests like muscle and nerve biopsys, EEG, MRI, testing the speed of the nerves, etc. But nothing helped and no one found a clue. Several blood tests were made with no results. After 6 weeks on intensive care unit Henri was transported via helicopter to Kassel, to start a rehab, still on 24 hour ventilation. Doctors here a specialized on rare diseases. We then had a mixture of 8 month between learning to live with that we have a very ill, complete ventilated child and how to handle it and still making some tests to find a final clue. Henri got a lot of therapy (logopedics, physiotherapy and so on). During the time in Kassel we noticed, that Henri is not able to hear. His muscles became worse and worse. At the end before B2 medication he couldn’t sit in bed anymore and was lying only. Arms and legs have become very flabby. All his symptoms: muscle situation, moving tongue, loosing ability to swallow  and hearing lost were the hint for the professor to think about BVVL (today called RTD). We made a blood genetic test and started with 50 mg four times a day medication immediately. 2 month later, we got the confirmation that Henri has a riboflavin transporter deficiency.

The message was on the one side very sad for us, because there have been very little information on BVVL and the prospects where not very promising. The literature at that time said that only 1 of 3 childs survives the first 10 years after break out. After a few weeks we recognized things became better after starting the B2 Riboflavin therapy. Approx. 6 month later Henri was able to sit without help again. First he was able to move on his back or side only later on he started crawling again or moving forwards on his botty. He moves his own wheelchair by using his hands and feets as well. With some help he can stand and walk a few steps. He is able to hold his head again and we are communicating by sign language today so his hand motoric became very good again. Unfortunately he is still on 24 h ventilation which doesn’t became better anymore.

After we got our diagnosis we were allowed to leave hospital. In the first time we had a 24 h nursing service. For the start this was very good, but after a time you feel like a guest in your own house. We reduced the service more and more and my wonderful wife cared the most time about Henri. In this time we found a private discussion group on facebook. You can think about social media what you want, but this was a real luck for us. In the group are lovely people, in the beginning there have been only parents with childs with RTD, later on elder people who are infected on their own joined the group. Since we are in the group we learned so much more about the deficiency by sharing our experiences with each other. But there is still so much more to discover.

Right know, Henri is most of the time in a stable situation. He goes to school in an active wheelchair and takes part on our life in most activities. Unfortunately due to the ventilation situation he often has problems with his ears. Sinusitis and ear infections. At the beginning of this year he had an acute mastoiditis which had to be operated very quick.

Most of the time Henri is a happy little boy – somekind of special especially for us!

We are more than thankful that we met some very goods doctors like Prof. Wilken in Kassel and now also Prof. Marquardt in Münster who are very interested in our case.

As well an extraordinary person “Keith” which is the walking literature in RTD!!!

I first had symptoms of Riboflavin Transporter Deficiency (BVVL or RTD) at approximately age 14. My first symptom was hearing loss. At the time my parents didn’t think much of it and said it was selective hearing because I would only hear or understand certain things or certain people. I was in high school at the time and even though I had some difficulty hearing, my education was really important to me. As I got older my hearing worsened but no one thought much of it because I was able to hear some things. I visited a few audiologists during that time and even though my results were very poor, the doctors never gave me a diagnosis or even advice on what could help. I remember at one of my hearing test the audiologist told my mother that the only way we could find what was wrong was at the time of my death when someone autopsied my body. At that point my mother gave up and we ignored the problem.

When I started college I noticed that my hearing problem seemed more significant due to the fact that classes were much larger and there was more background noise and that made it much more difficult to hear the professor. I started to lose my focus, and classes were much more difficult for me. I joined a group at my university that was for students with disabilities. At that time my only disability was my hearing loss and the counselors helped me find students that would share their notes with me so that I was on track in the class. My first two years were going great and when I started my third year I suddenly began to feel very short of breath. I was about twenty years old when I was diagnosed with asthma and started to take breathing treatments. The campus at my university was quite big and it took a lot of energy to walk from class to class. I carried my inhalers with me so that I wouldn’t be short of breath in class and just when I thought I had things under control, I experienced yet another symptom. I began to feel very weak in my legs, but I was able to keep that under control because after a long walk I was able to sit down during lectures. It was when the lectures started that things would get worse. I was unable to keep taking notes during class because my hand would go numb and I couldn’t hold my pencil anymore. I tried finding solutions like taking notes on a laptop or an IPad but nothing was working and I noticed my muscles were beginning to deteriorate.

Still, I continued going to school in hopes of one day becoming a teacher. During the second semester of my third year I experienced facial paralysis. This was one of the most painful and most difficult things I experienced because I also lost my voice during this time and I was no longer able to communicate with people. I had no idea that all these symptoms would be connected someway. Unfortunately, I only kept feeling worse and that’s when I decided to drop out of school and take better care of myself. Even though I tried hard to take care of myself, I kept getting worse and I ended up losing about 50 pounds and it seemed so sudden. As a woman that’s 5’7”, being 80 pounds was not good for my health. I tried seeing doctors to see what they could tell me, but no matter how many labs they ran everything came back fine. I remember being asked countless times if I was on drugs and I had never taken anything other than prescription medication. With all these symptoms and no answers I grew depressed.

After a few months with no answers, my boyfriend and I decide to drive 200 miles out of town to see if one of the bigger hospitals could give us some answers. When I arrived at the hospital they immediately began to run different tests and I ended up being admitted so that the neurologists could order more tests. After about seven days and a many different tests, the neurologist gave me a diagnosis. He said it was most likely Brown Vialetto Van Laere but I would need testing to confirm it. At the time there were not a lot of known cases so he said I might have only months to live. Even without a genetic confirmation, he recommended I take 400 milligrams of riboflavin. When I got back home I broke the news to everyone but no one thought much of it. However, I was terrified. I was taking 400 milligrams of riboflavin twice a day in hopes of showing some improvement. I wasn’t getting any better and was not showing any improvement and the doctor decided that I needed a feeding tube to help me with my nutrition since I was not able to gain a single pound.

After the surgery for the PEG tube I thought things would be much better but to my surprise I seemed to have gotten worse. I received my results, which confirmed that I did in fact have BVVL, and I ended up in the hospital with what seemed to be a cold and I was placed on BiPap machine but was unable to come off of it and breathe on my own. Eventually after a seven-day stay at the hospital, the doctors said it was safe for me to go home. A few hours before I was discharged I had a respiratory arrest, which led me to being intubated and later trached. During my time in the ICU, I found a group on Facebook that was meant for people with BVVL. It was such a huge step for me. Being able to communicate with others who were going through similar things as me gave me hope. It was through that group that I learned about higher dosage and about coenzyme Q10. After the doctors okay, I was able to increase my dose of riboflavin to 800 milligrams twice a day as well as 100 milligrams of coenzyme twice a day. After a month of the higher dose we saw improvements. Even though I was still in the hospital, I managed to gain a few pounds and doctors were okay with sending me home. After being trached we worked on weaning me off the vent so that I could remove the trach, but we didn’t have any luck due to my sleep apnea. The trach helped me breathe better and the vent helped me sleep at night so I went home trached and with a ventilator.

Everything started to change for me. My appetite increased and I was eating more. I still had the feeding tube and was still receiving my supplements through the PEG tube but I was also able to eat on my own. I saw many improvements within months. My breathing got better thanks to the trach and I started to gain some of my muscles back. I was able to get back to my normal weight and remove the feeding tube after about a year and a half. I am still trached, which doesn’t bother me because it has helped me a lot during my bad days. I’ve had my tracheostomy for about three and a half years and even though I am showing improvements, my lungs aren’t strong enough yet. My tracheostomy might be permanent or temporary; I’m just not sure what the future is like for me.

Taking riboflavin has helped me tremendously but it does not mean that I am cured. There are still days where I don’t feel well enough to get out of bed and then there are days when I am just feeling great. It’s been a rollercoaster for me but I have managed to keep fighting. I still see many specialists in hope of learning something new but most of the things I have learned I have learned through others like me. Riboflavin as well as several other medicines are what keep me sane. If I miss one day of my riboflavin, I get the worst migraines and nothing will make them go away except for riboflavin. Thanks to this treatment I’ve finally been able to enjoy life a little better. My hearing is still very poor and my body is still very weak but I have come a long way from a few years ago. I have high hopes that one day I will get much better.

Tyler was born a healthy baby boy, we could not believe how lucky we were to have such a beautiful little man in our life. Tyler was four months old when my husband deployed to Afghanistan, kissing him good bye knowing he would be home in a year’s time to his little man running around.

It was around 5 months old that I noticed his eyes darting back and fourth, I brought this up with the Dr’s and they where not bothered at all, being a first time mum I trusted what they said. At seven months old Tyler turned blue and stopped breathing, I thought he was choking, so my first aid training kicked in, once he regained consciousness we went straight to the ER, where bloods where taken, he was monitored left right and centre, but nothing was diagnosed.

It became normal for Tyler to hurt himself and go into a breath hold, and began to have seizure like activity. We were again sent to hospital for EEG’s but once again everything came back normal. The Dr’s kept reassuring me he will just grow out of it. He started to find it hard to walk and would lose his balance quite a bit; it was common for him to wake five times a night, only going back to sleep with a bottle.

My baby was 18 months old when I picked him up from day care, he was looking straight through me; he could hear me but he didn’t know where I was. He was unable to stand or hold anything in his arms. That’s when panic set in.

We rushed him to his paediatrician, who started more testing, and within a week we found ourselves in Sydney Children’s hospital Randwick. We conducted numerous tests and biopsies, but all we knew was that his nervous system was dying and we didn’t know why.

You never forget the day that your Dr tells you that your child is dying, and we may never know why; it is still fresh in our minds. But none of us took it lying down. Dr Hugo Sampaio and his team saved our sons life, he started Tyler on B2 before knowing his condition was RTD, he told us that there is a 0.01% chance that this could help but we must try everything.

I noticed Tyler moved his arm in a way that he had not done in a while, “look at him!! He’s getting better” I cried, people must have thought I was crazy, a grieving mum seeing what she wants to see. But no, our little man was defiantly improving.

Fast forward one year and we are blessed to have our cheeky little boy, nicknamed T-Bear, with us. He blows our mind with his personality and love. He is now able to stand holding onto the couch and can move around on the floor on his knees, He has a cochlear implant and works very hard on his speech. He may not be able to verbally tell us that he loves us, but my god we know he does, with his beautiful cuddles and smile.

It has been a hard road we have all walked this past year, but nothing will ever stop us from fighting. With your help we will find a cure. Tyler and his other RTD friends will shine a light on this world like no other, just wait and see.

Four months flew past and we faced immunizations.

On the day of his immunisations I remember dressing him in his little superman suit (what better place to wear it) and the doctor remarked “isn’t this the cutest thing you’ve ever seen”, he was so brave not even a tear. Within a week Mason developed a slight cough. While walking with a friend (to lose unwanted baby weight) my friend commented on Masons cough and I said I thought it was a side effect of his immunisations, from that moment on Mason’s life and our family life would forever change.

Over the next few weeks we made several trips to his local doctor for this persistent cough. I began to notice his coughing increased while feeding almost as if he was choking not knowing at the time but that’s exactly what was happening. My breast milk was aspirating into his lungs causing him to cough something we would find out later. Within that time frame Mason also developed slight flickering eye movements with his pupils. After seeing an eye specialist he was diagnosed with horizontal nystagmus. We also noticed his upper body was becoming weaker, he was now unable to support his weight during tummy time or reach up for things. After continuous visits to the doctor, blood tests and x-rays we were told he had pneumonia.

What is going on, what is happening to our precious baby boy? Mason developed a temperature overnight and we immediately took him to the children’s hospital. This would be our home for the next 4 weeks and the hardest 4 weeks of our lives so far. So many teams of specialists, so many tests but no answers. Mason doesn’t fit into a specific category. We tried to maintain some sort of normality for the sake of our daughter but it’s tough… sleepless nights, constant travel back and forth to the hospital and whilst there entertaining a 5 month old whose tubes and leads only extended 1 metre from his hospital cot.

After 4 weeks we leave the hospital with a strong possible diagnosis of Mitochondrial disorder, a Nasogastric tube due to his aspiration and a CPAP machine for his sleep apnoea and about a thousand unanswered questions. All we could do is wait for test results, spend our days caring for Mason and research, research, research.

The test results came in for possible Mitochondrial disorder and they were negative. The Doctors moved on to the next possibility each looking more and more grim. Mason attended endless doctor/specialist appointments (with Grace in tow) and medical jargon filled our discussions (MRI’s, EEG’s, ABR’s etc.). Therapy sessions began such as physio, OT and vision therapy. A few weeks later a PEG (Percutaneous endoscopic gastrostomy) was inserted to assist with his feeding. It’s hard to believe just a few months ago we were envisioning sitting on the sidelines of a soccer field imagining endless possibilities for both our children. Through love endless possibilities remain though some visions have changed. I wonder what he thinks, what he envisions.

Further tests were conducted and when Mason was 20 months old he received a positive diagnosis of Riboflavin Transporter Deficiency (RTD), also known as BVVL (Brown Vialetto Van Laere Syndrome). To some the revelation of a name meant a great deal something to be happy about but to us it was one of the saddest days. I left the hospital carpark crying as I had done many times before. As a parent you still have hope for that miracle that one day you would wake up and everything would be perfect again but this diagnosis is permanent. A name doesn’t come with a cure. We are grateful though to all of Mason’s doctors and specialists for all their involvement and time.

Our son is now a BVVL/RTD (Riboflavin Transporter Deficiency) warrior and life is still filled with doctor/specialist appointments and therapies. He has his battles daily but he is a happy natured boy. On occasion if he becomes upset he can suffer blue spells. He has reflux that causes him to vomit if he is too upset or if he coughs too much (winter is particularly bad) or even if he laughs too much. We try to counteract this by reducing his PEG feeds to smaller, more regular amounts so he can tolerate them. He has optic atrophy with horizontal nystagmus but because of his age it is unclear how well he can see. Sensorimotor axonal neuropathy predominantly affecting his upper limbs means Mason has very little strength in his arms. He finds it difficult to do basic things such as scratch an itchy spot and is only able to hold very light weight objects.  Although Mason’s legs are quite strong his balance has been affected and he cannot sit, stand or walk unaided yet. Mason’s latest hurdle is the diagnosis of Auditory Neuropathy Spectrum Disorder (ANSD). This has resulted in Mason acquiring hearing aids but again because of his age and the fact that his specialists have little if any experience or knowledge of Masons condition it is hard to say how affected these are and what the outcome will be.

A day in Mason’s life is a busy day, he has 10 PEG feeds throughout the day 6 of those are accompanied with medications. The majority of the day is spent transitioning between his walker, standing frame and pram. He loves floor time and moves around his environment by scooting and wriggling on his back. Interactions with his sister are limited at times but they play in their own way the only way he knows. His all-time favourite thing is music and often requests songs to sing throughout the day. He is determined and full of personality but reality is Mason needs support in almost every aspect of his life and we have had to adapt to a life that we had never envisioned.

But you should hear him sing, see his smile, hear him laugh, he is cheeky, he is beautiful, he is our Mason.

This never seemed to ease and although we raised this with our GP and health visiting staff, our concerns as parents were dismissed.

We went to the GP on a number of occasions over the next year but it wasn’t until Zac was around 2 years old that the GP finally agreed to send him to be seen by a physiotherapist as he continued to be more wobbly on his feet.

In June/July 2013, we noticed Zac had “wobbly” eyes.  After a referral to the opticians we were seen at the local children’s hospital who advised Zac had nystagmus and loss of vision. September 2013 he was officially registered as partially sighted.

It took around 6-8 months before Zac was seen by a physiotherapist, who put in an urgent request to see a physician again given she had serious concerns over his mobility.  We met with Dr Allison Rennie, Consultant Paediatrician a few weeks later who advised us she thought Zac had a brain tumour and we would need to be seen by the local neurology team.

August 2013 – we met with Dr Stewart MacLeod, Consultant Neurologist, who took various details/assessments and videos of Zac. He was referred for an MRI to determine whether Zac had a brain tumour. This was a very daunting experience for us, going from having what seemed like a healthy child with balance issues to being told he potentially had a brain tumour.

Zac underwent his MRI which returned with normal results, this left his team of doctors baffled.  Over the course of 2 years, he underwent further testing such as a lumber puncture x2, a further 2 MRI’s and a skin and muscle biopsy. All results came back normal and showed no issues with his brain.

During this time Zac’s mobility disappeared and he was now reliant on a wheelchair.  He also become non-verbal during this period for unexplained reasons at the time.  He also suffered with scoliosis of the spine due to the position he had adapted to remain stable when sitting and had significant arm and hand weakness.  Zac’s team remained clueless as to what was going on with him. He became very frustrated and annoyed because he went from being able to walk and talk to losing both these things. He lashed out at us and his sister Mia due to pure frustration of not being able to do things. It wasn’t until January 2016 that Dr MacLeod called us to advise one of Zac’s test results had come back positive and he was diagnosed with Riboflavin Transporter Deficiency  Type 2 (SLC52A2 mutations) also known as Brown Vialetto Van Laere Syndrome.

Zac’s doctor explained this was a very rare condition and he was his only patient to have been diagnosed in Glasgow and Edinburgh and possibly across Scotland. This was such a worrying time for us as when we researched his condition, it shows drastic end results as the information online was so outdated. It wasn’t until we came across the RTD/BVVL facebook page which linked us in with a group of amazing parents as well as people that live with this condition that we realized although life was going to be challenge for Zac he could live an independent fulfilling life.

Once we got Zac’s diagnosis, it seemed his loss of speech was due to the fact his condition causes hearing loss. In August 2016, Zac was officially diagnosed as profoundly deaf. From speaking with other parents, we knew that a Cochlear Implant was the only way we could potentially allow Zac to hear again. We underwent an assessment at our local cochlear implant centre in Scotland however they refused to implant due to reasons which were invalid. We launched a local media campaign on facebook as well as in the local papers. You can find information relating to our campaign here:

https://www.facebook.com/hearhearzac/

http://www.eveningtimes.co.uk/news/14921975.Castlemilk_Mum_s_NHS_plea__Help_my_son_to_hear_again_before_Christmas/

http://www.eveningtimes.co.uk/news/14931610.Castlemilk_boy_Zac___s_dream_of_hearing_may_still_come_true/

Following on from this, we were given the opportunity to seek a second opinion from another hospital within the UK. We chose Royal Manchester Children’s Hospital. Zac started his assessment in January 2017 and on 19^th June 2017 he underwent his implant surgery with his activation taking place on 7^th July 2017.

Zac currently is trying to make use of his implant but we are also teaching him British Sign Language to give him a way of communicating with us and his younger sibling Mia. He is currently taking a number of medications to help his condition and although he is making progress, we have a long way to go.

Zac is your typical 7 year old boy who is independent, boisterous and very stubborn! As a family, we are doing everything in our power to ensure Zac is able to live his life to the fullest and if it wasn’t for the support from our RTD families we would not be in the position we are in.

I am urging everyone who reads our story to please share it with the world. It is thought that a number of undiagnosed conditions across the world could potentially have RTD. With your help we will continue this fight and one day find a cure.

Thank you for taking the time to read our story.

All our love

Clark Family

During puberty, I had a lot of problems with dizziness, but there was never a cause found. Despite these symptoms, I lived like everyone else, was an average student and then completed an apprenticeship as a clerk.

In my spare time I have devoted myself to my great passion: the dance. Up to 6 hours of training per week and I was also able to lead children’s courses. That was one of the best times in my life, which luckily I enjoyed very intensively.

At the age of about 20, I realized for the first time that something was wrong with my hearing. It was especially noticeable in noisy surroundings. So when music was in the background, I suddenly could not understand what was being said. The doctor pointed out that this could have come from the loud music, because I also had tinnitus.

The more time had passed, the worse my hearing became. I was sent for many different tests, but I was not taken seriously. I had more troubles with dancing … because I heard the music, but not the individual instruments. What came to my mind was just noise. I heard people talking, but I did not understand them anymore. It was clear to me quite early that this was not because of my hearing but because of my brain. But even that could not really prove in the whole tests and thus I was sent home without any help.

That was also a very difficult time mentally. To realize that something is wrong with you and nobody knows what’s going on, and most of all, no one is trying hard to figure it out. Of course, I was also told that it could have been mental and I just WANTED to not hear anymore. I think there is nothing that I have not heard. And almost nothing that I did not try.

So the time passed, partly I tried again to fight and partly I had just given it up. Then one day, in the middle of summer, I caught a horrible flu. My eyes were swollen shut, the nose ran continuously and the cough was terrible. For two weeks I was completely flat. After this flu nothing like it was before.

My breathing somehow would not recover properly. Walking and talking at the same time became an impossibility. Of course this was attributed to smoking by the pulmonologist. I walked like I was drunk; which of course was attributed to the hearing loss. It somehow seemed to get out of hand.  The big moment for me was when I lost my balance at the end of autumn and fell into a small stream. From now on I would take the signals of my body seriously.

After a long struggle and with the support of my parents we managed to get hospitalized at the Inselspital. I had decided not to leave there until I knew what was going on. Said and done. It took 2 months. I really do not want to think back but then came the big day.

The day of my diagnosis. Brown-Vialetto-Von Laere syndrome (Riboflavin Transporter Deficiency = RTD). A neurodegenerative disease that I was told was extremely rare. I was told that there were 5 known cases worldwide, the life expectancy after diagnosis was about 10 years. There would be no therapy or research. One has no idea what else will happen to me. The only thing that could be given to me was high doses of vitamin B2, because that’s what my body absorbs so badly.

It was a feeling of powerlessness. Had I known it all the time and no one had believed me. I was so incredibly mad at this whole world! And helpless.

As is usual with nerve diseases, I was treated with cortisone. I had so many side effects, one was that I could barely speak and swallow. Within a short time I have lost so much weight that I had to get a permanent stomach tube. It was clear to me that this is the beginning of the end.      After that they therapy they tried immunoglobulin therapy. I felt so sick of a dog, I cannot say today if it actually did anything back then. My morale was on the ground. I knew my current condition would be the rest of my life. And I felt terminally ill.

When I was released from the hospital, I looked for a neurologist from my city. She helped me a lot and is always there for me. Since I could hardly walk anymore, my parents organized an electric scooter for me. I tried to organize my everyday life with extremely small steps so that I had all the doctors in my environment.

Every day I had to get up and go for a walk with my dog. I think that my dog did a lot to make me feel much better today. Not because I have fewer symptoms, but because I have learned to deal with them and get help where I need them.

Five years after my diagnosis, I fought back to life. It’s anything but easy, I’m always struggling with new challenges. But the universe has sent me people who are good for me and who are there for me. Thanks to all this I can say today: I love my life, even with all the construction sites. In the meantime there are “already” around over 100 cases worldwide and I am in close contact with many of them. They are all an uncanny support to me. I am confident that together we are strong and can achieve something!

Born in Oskaloosa Iowa, Zach was perfectly healthy for the first 3 years of his life. At age 3 he fell off of the porch and immediately after, he had hearing loss and nystagmus. My parents were told he had double inner ear infection, which would explain both of those things. However, when the infection cleared up, his hearing loss and nystagmus were still there. Over the next year, they went to several different hospitals but could not get answers. Finally after going to the Mayo Clinic, he was diagnosed with a rare neuromuscular syndrome, called Rosenburg- Chutorian Syndrome which involves hearing and vision loss, and peripheral neuropathy.

Zach soon began to have trouble walking and used a walker. Another problem he had was waking up very upset and unable to control his emotions for the first few hours of the morning. We found out much later, that he had been hypoxic during the night but they did not know it because he was fine later in the day.

At this time, I was living  a very healthy life during the first 18 months in Oskaloosa, Iowa. At this age I talked almost like a 3 year old. I also walked, ran, and rode a tricycle and everything you can imagine a toddler doing at that age. Suddenly there was a rapid decline in my health.

One day I was riding my tricycle when my brother ran into me and I had a small green stick fracture on my leg. After the cast was off, I could not get my balance back. That’s when my parents thought I might have the same syndrome as my brother.

We went to the Mayo Clinic in Minneapolis and I was diagnosed with Rosenburg Chutorian Syndrome, the same syndrome which they had recently diagnosed my brother with. My parents were told that this syndrome was not life threatening even though we had no idea what to expect. Over the next few months, I started having trouble with my hearing and then became sick with a lot of congestion in my lungs. Around this time, I also stopped speaking but we were not sure why exactly.  My family was in the process of moving from Iowa to Dayton and on the day the movers were coming to my house, I woke up in severe respiratory distress. They care flighted me to the hospital in Des Moines and I got my trach and was on a vent. After about 3 weeks, my dad and brother, Zach, went to Dayton so my dad could start his job and I was going to come with my mom in a week or so.

On the second day that my dad and Zach were in Dayton, Zach went into respiratory arrest and was transported to Children’s Hospital in Dayton. His left lung had collapsed and he required blood transfusions because they said he was very “malnourished”. We now wonder if it was severe anemia that we know can occur with BVVL.

That night my mom and I flew on an air ambulance to Dayton and Zach and I were in the hospital together for a few more weeks.  During the hospital stay we did many tests and figured out that I had been aspirating food into my lungs which made things even worse.  Zach was also unable to get off of the ventilator, so he had surgery to get a trach the day after his 5^th birthday. A couple months later, we both got a G-tube so that we could receive nutrition temporarily while I was extremely sick. I was also using a cool mist machine at night when I slept but Zach continued to use a vent because his left diaphragm was and still is paralyzed.

After getting out of the hospital, my health was stable for a while but over time I gradually had some changes, like losing strength in my arms. I still was not speaking but finally one day my mom was trying to give me some KoolAid and all of a sudden I yelled “apple juice”. Not believing her own ears, my mom tried to get me to repeat it but I refused to. Soon after that, I began attending speech therapy which slowly helped me learn sounds and language again. So I slowly started to talk more and more over the following year. I got a wheelchair to use for transportation and a communication device which seemed to help a little but it was still difficult because I couldn’t use my hands very well. I went on to preschool and had homecare nurses go with me to help with medical needs. I also had an aid to help me with communication and other academic activities. When I reached kindergarten the school got me a tactile sign language interpreter who helped with communication and also helped to teach me sign language. During these first few years in school I continued to get stronger physically even though I still experienced all of the same challenges. When I was in 4^th grade my parents noticed that I had scoliosis which was becoming worse rapidly and my hearing also dropped even more. In 2001, when I was in 5^th grade, I went through corrective back surgery to receive rods.  After that my health remained stable for several years. Throughout elementary and middle school, I continued to be as active as possible, while I still had enough strength in my arms and legs.

Zach had a similar experience in the few years after getting out of the hospital. He gradually lost strength in his arms but was healthy for the most part. His scoliosis became worse when he was 9 and had to have surgery to insert rods. He was very active as well both in school and in community activities. After graduating from high school, he decided to go to college, at least to take a few classes. High school was very difficult and exhausting so neither of us were very interested in more school.  He went to Wright State University which is close to our home, and loved it. Finally after years of feeling like an outsider, he was part of a group because Wright State is one of the top colleges in the country for people with disabilities. He had many friends and eventually lived on campus for 3 years before graduating with a Bachelor’s degree in Rehabilitation services.

When I was in high school, I gradually lost more strength, and started to not be able to crawl on the floor, like I had always done at home. I began using a wheelchair full time even though I got out as much as I could, especially in the evening before bed. We also noticed that I lost more of the use of my hands because I had difficulty driving my power chair and other issues. In November, 2008, we discovered that I had kidney stones. Soon after, I began to feel short of breath, weak, and experienced unstable body temperature, and shakiness. We had no idea what was going on. We went to the pulmonologist and discovered that my CO₂ had gone up, so switched from using a cool mist, to using a ventilator at night. I continued to have a very difficult year with my health but no one could figure out why. Shortly after graduating from high school in the summer of 2009, my family went back to Mayo Clinic to see the neurologist and do some tests. I was very disappointed to leave the clinic with no answers.

Despite all of these difficulties, I decided to go on to Wright state University the next fall, as welll. Over the next few years, I was able to live in an on-campus apartment. I continued losing more strength but my body temperature and shakiness became a little better, however, my breathing continued to go downhill, and I started using my vent more and more throughout the day plus overnight. In 2014, I was doing well except that I was using the vent approximately 20 hours per day. Then in the fall, our neurologist at Cincinnati Children’s hospital whom we had not seen for 6 years, called to tell us about a syndrome she recently learned about that made her think of us, because it involved the symptoms that we experienced. She asked us to get a blood test to see if we had this, so we did, only to find that we are positive with Brown Vialetto Van Laere (BVVL), type 2, which is now referred to as RTD.

This was the beginning of an emotional roller coaster. In December, 2014, we both started on a high dose of riboflavin, as a potential treatment. At that time, I was doing physical therapy and could really notice a difference in my strength. Unexpectedly, a few weeks after I started taking riboflavin, I rolled over on my side for the first time in a few years, which was very exciting. We both continued to see small improvements over time, such as feeling stronger, less fatigue, more regulated heartrate, We have noticed that our necks are much stronger now and we are walking better, but still with assistance from another person walking behind. One amazing thing we have noticed, is when we see people that we are not around often, they can definitely notice an improvement in our speech. At that time, we were fortunate to find the FB support group for people affected by BVVL and be able to connect with other families who have similar experiences. After learning that they greatly recommended cochlear implants for individuals who have this syndrome, Zach received his first CI in June, 2015. That was a huge change because of not being able to hear at all in that ear for the past few years. Now his hearing in that ear is even better than it was when he was younger. Using him as my guinea pig, I decided to receive my first CI in March, 2016, which was also a huge improvement for me, but my hearing is still not as good as Zach’s even though it has never been. Now, after upward progression after my CI, I am able to understand some speech for the first time in approximately 15 years.  I also received another procedure in July, 2015 to install a diaphragm pacer system. The goal of having this was to improve my time off of the vent as much as possible. The combination of the DPS and having more energy and strength from the vitamins, has allowed me to be off the vent a little more, so I am currently using the vent 15 or 16 hours a day. This system enables some people to no longer be vent dependent, however I am the first person with RTD to receive this system, so no one knows how effective it could be.  In February, 2016, we both started on some additional supplements such as FMN, methionine, fish oil, CoQ10, Carnitor, Vitamin E and C.

Now, Zach is stronger than he has ever been. He feels great and has lots of energy. He is now pursuing his Master of Divinity degree to become a pastor or hospital chaplain. Zach also has truly experienced such a positive change in his walk with Christ, which definitely gives him lots of hope in his future in many aspects, such as his health, career, education, and life with his girlfriend.

I am also feeling a lot better but still working on improving my health as much as possible. I graduated from Wright state after 6 long years in May 2015, with a Bachelor’s Degree in Rehab Services also. I am now enjoying life, working in the disability community, focusing on my health and pursuing an amazing, exciting future with my fiancé. We are both very blessed that God has finally revealed His hidden secret and want to share our experiences with as many people as possible so we can help those who have similar experiences, in any way we can.

First, they observed an unstable gait, which mirrored my two twin brother’s initial symptoms a few years earlier. Their worst fears were confirmed when they took me to see my brother’s neurologist. The doctor examined me and told my parents that he was acutely suspicious that I was suffering from the same debilitating disease my twin brothers have.  At that moment, my parents knew my life would change forever and this reality was inescapable.

Second, in March of 1997, I was devastated when the voices around me faded until my world became a pool of blurred mumbles, virtually silent.

All the while my ability to walk continued to decline and plummeted in May of that year.

The third warning sign blew us out of the water.

My breathing started to deteriorate quickly and on one July in evening of ’97 I went into respiratory arrest. I was lying on the couch and started feeling strange.  All of a sudden, air was stolen from my lungs and my lips turned blue.  My concerned father and brothers were hovering above as I fought to breathe. This was a scene my father knew all too well—he’d done this before with my brothers. He realized what was happening and flew into action. Snatching the Ambu Bag, (a manual breathing pump) he pressed it over my nose and mouth, forcing air back into my lungs, saving my life.  My parents called 911 and I was rushed to the hospital. The next thing I knew, I received a gastrostomy tube (feeding tube inserted into the stomach for nutrition) to compensate for my weakened ability to swallow.

After this episode, my brothers and I traveled to John Hopkins Hospital in Baltimore, Maryland where they did batteries of tests. Unfortunately, no diagnosis was made. All they would tell us is that it was some type of neuropathy of an unknown origin. We searched for years with countless questions and very few answers. The doctor’s conveyed to my parents that due to complications from the disease, my brothers and I would not live long.  *This was a devastating setback for my family.

Being a very determined child, I didn’t listen to the doctor’s prognosis. At that time, I did not understand the severity of the situation at hand. In my childlike ways, I knew I would get better. From there on out, the three of us attended physical, speech, and occupational therapy.

With God’s help and the intervention from all the therapies, I improved and eventually started breathing, eating, and walking on my own again.  My trach and feeding tube were removed two years after they were originally placed and I continued to improve with each passing day.

At age six my vision gradually declined.

For quite some time everything remained stable, that is, until I entered middle school. My health began to spiral. My breathing was degenerating once again. Walking became difficult which forced me into a wheelchair and thereafter I couldn’t write with my hands.

My vision continued to decline. I was only able to look at things at an angle, using my peripheral vision.

During my early high school years, my vision became unstable. Nystagmus, uncontrollable shaking of the eyes, was now a new symptom of my unknown disorder. This gave me excruciating migraines and I felt as though I was going completely blind.

My scoliosis was also becoming increasingly more severe with a 100 degree curvature of the spine, thus making it challenging to breath. I was distraught. My family and I decided that I would need corrective back surgery for scoliosis. After the surgery, I could breathe with ease which gave me hope.

However, once again, this disease struck my body. When I once breathed with ease, I now gasped for air. It was as though I was drowning and I could not reach the surface. Overwhelmed and critically breathless, I decided to receive a permanent trach a few months after my sixteenth birthday. The tracheostomy (surgery to insert my trach) impeded my ability to move. This, in addition to my already weakened limbs (Quadriparesis), increased my dependence on a wheelchair. Just before I turned seventeen, I experienced extreme weakness in my swallowing. I received my permanent g-tube a few weeks later.

I wasn’t improving.

My whole body seemed to reject itself. Everything seems hopeless despite some improvements. One year later, I noticed progress in my swallowing and I could eat. Slowly, my swallowing got stronger. I could drink fluids again! Over the next several years my immune system weakened—I was susceptible to bacterial infections around. As long as we were cautious, I remained stable for some time.

In 2016 a friend, Joni Eareckson Tada, contacted my family via email with some potentially life changing news. Joni met a family who had a son and daughter and they reminded Joni of my brother and I. My mom contacted the Holler family (Zach and Mallory Holler have shared their story above), then spoke with our local geneticist to proceed with the genetic testing that was suggested by them.

With great anticipation, we received the results from the geneticist testing center. Positive, it read. This news was unexpected. After so many negative results, we were astonished to FINALLY have a diagnosis of RTD type 2 for me and my brother.

After 27 years of searching for answers, I was overtaken with a newfound joy and amazement. The moment my family and I received these results is a memory I will always treasure.

Since 2016, after being diagnosed, I have started aggressive treatment, which includes taking high doses of riboflavin three times a day.  Since starting treatment I have improved greatly. However, I am still deaf, legally blind, breathe with the assistance of a trach and ventilator, and still cannot walk or use my hands.

I refuse to allow difficult circumstances to prevent me from living in full color. Although I have experienced countless setbacks in life, I choose to persevere and glorify my Lord and Savior, Jesus Christ. I aspire to encourage others to press on through my painting, writing, creating stained glass mosaics, going to events, and telling my story.

Cure RTD comments:

Paige Snedeker is an accomplished author and artist. Paige and Michelle Medlock Adams’ book, I Love You the Mostest won the Maxwell Medal for best children’s book at the 2017 Ohio Christian Writers Conference.

Paige illustrates with her mouth by using various mediums and tools. All proceeds from the book I Love You the Mostest goes toward the Cure RTD Foundation. Paige has previously written and illustrated two of her own children’s books, Sofia and Her Morningstar and Camo’s Journey, which also support the Cure RTD Foundation.

I Love You the Mostest is available on Amazon. Paige’s other books and art work is available through her online store at www.ThePaigeProject.org.