miércoles, 8 de abril de 2015

Brown-Vialetto-Van Laere syndrome (BVVLS), the Community - RareConnect

Brown-Vialetto-Van Laere syndrome (BVVLS), the Community - RareConnect

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Learn how others live with Brown-Vialetto-Van Laere syndrome, a rare neurological disorder


Annabel

Annabel

by RareConnect team published 24 days ago
I didn't believe in mums intuition until I had kids. Annabel was born into a long hot English summer (they happen every once in a while). The only thing that seemed odd in her early days was that she took forever to feed, but heh, what did we know about babies, Annabel was our first. At around 1 year many of Annabels peers were crawling around, some were even walking. Phew I thought, as An...

Dean

by RareConnect team published 23 days ago
Dean was born on 24th Dec 1994, in Aldershot Hampshire. Dean was a very healthy 8lb 1oz, and was born after a normal and healthy pregnancy. From the very start he was a very good, happy and contented baby. He Loved his food, was very smiley, inquisitive and loved people. He slept through the night from 10 days old. Dean seemed to reach all his normal baby milestones. He was happy sitting, playi...




Ava and Brown Vialetto Van Laere Syndrome

Our beautiful daughter Ava was born at home on the 1st August 2006. Although born a little early, she was healthy, happy and thrived. She hit all her milestones, and was coming along in leaps and bounds.
Written by RareConnect team, published 30 days ago.
Ava and Brown Vialetto Van Laere Syndrome
In August 2008 when Ava had just turned 2 we moved to Germany on secondment with my husbands company. Ava continued to do well, joining Kindergarten and then Pre-school where she made friends easily and was learning well.
However during the of summer 2009, after a weekend of high temperatures and illness, 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 fall, frequently. Something was just not right.
I took her to the doctor, an audiologist, and then to a paediatrician. They all said she was fine, I was apparently being an over anxious mother, but I know my child and I was uneasy.
Ava as you can imagine, became frustrated and upset by the changes happening to her. She was over-emotional, scared and aggressive in equal measures; life was exhausting.
Then at the end of November 2009 came a more permanent irrefutable change. Ava's eyes began to oscillate and shake. We were petrified and Ava was rushed to hospital. Finally someone was listening to us, but this was not how we wanted to be heard. They suspected Ava had a brain tumour, Neuroblastoma, and she spent the next two weeks in the Kinder-Klinik (we were still living in Germany) undergoing a barrage of testing.
We were allowed home for Christmas, but we could not relax, not for a minute. We took it in turns to ensure she was watched every minute of every day and night. We were gripped by fear, scared of losing someone so precious.
Little did we know this was to be the beginning of a very long quest to get a correct diagnosis for our little angel. She was misdiagnosed and incorrectly treated for diseases she did not have - Opsoclonus Myoclonus, Lyme Disease, Mitochondrial disease to mention but a few.
Over three long years, we made so many phone calls, sent so many emails and did so much research and still nothing. We travelled all over Europe to conferences, to see specialists and even visited healers to try to halt the progression of her mystery illness. We were so close to losing her; by now she had no energy, the beginnings of respiratory failure, her body was shutting down and she was so frustrated, at times impossible to deal with and extremely aggressive.
Then Dr T Haack at the Helmholtz centre suggested Whole Genome Sequencing, as he put it, it was the Holy Grail of testing, it was expensive, but Ava's only hope. We all submitted our blood samples and then the excruciating wait began.
In March 2012, we were called into the hospital, and finally we got our long awaited answer; 
Brown-Vialetto-Van-Laere syndrome. Our elation at finding a name for Ava's nemesis soon turned to fear when we heard it was a Neurodegenerative disorder with a 70% mortality rate, and those who survived were left severely disabled.
This disorder was so super-rare it had never been considered, there had only been 74 cases previously worldwide in 100 years and with no known cases in Germany. The specialists had to reach out worldwide to anyone with experience. The genetic defect was relatively new, having only being discovered in the November before Ava's result. She was such a lucky girl to have it identified and now she was about to be blessed, as there was a new virtually untrialled treatment which had been recognised.
The doctors quickly prescribed large doses of Riboflavin (vitamin B2). The chemist's questioned and struggled to believe the high dosages being prescribed and then again, to locate such large quantities of medical grade Riboflavin. They then faced the challenge of how to make it palatable, stable and deliverable. Amazingly, they overcame the obstacles and we started Ava on the treatment as soon as we could.
Over a periods of months, Ava's decline slowed, and then we saw an improvement for the first time in three and a half years. Her facial palsy eased, her breathing became better, she slept better at night and she regained some lower arm strength.
Now in February 2015, Ava suffers from multiple disabilities and need 24 hour care. Despite using two digital hearing aids, she is profoundly deaf and cut off from the hearing world. We are currently looking at the possibility of a Cochlear Implant. But with so few cases there is little evidence to go on as to whether it would be successful or not. She is certified blind having Optic Atrophy, Nystagmus and no peripheral vision. She cannot stand or walk without assistance and relies on a carer propelled wheelchair outside of the home and mobility aids within. She has lost her upper arm strength, so is unable to feed herself. This also makes it very difficult to co-ordinate her arms or to draw and play.
However, Ava is a tenacious young lady, and astounds us daily with her attitude to her disabilities. She is funny, feisty and bright. She still has episodes of anger and being over-emotional. But she has matured so much over the last 12 months and we see constant improvements in her self-control. Since we returned to the UK in 2013, she is coming on in leaps and bounds in her wonderful school and her sign language within the confines of her disabilities is much improved.
We continue to fight for her rights, and look for new and innovative ways to give her the quality of life she so richly deserves.
Written by RareConnect team, published 30 days ago.


Alex

Alex was born in March 1997 a healthy, happy baby boy. For the first year of his life he thrived and developed normally with no apparent health problems.
Written by RareConnect team, published 30 days ago.
Alex
All that changed shortly after his 15 month vaccinations when Alex developed a sudden onset of nystagmus (wiggly eyes.) Fearing a brain tumor, Alex was sent for an emergency CT scan. 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 junior in high school where he maintains a 3.8 GPA. 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.
Written by RareConnect team, published 30 days ago.

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