A conference for everyone
We sang together. We learned something new. We caught up with old friends and made new ones. There was fun and laughter. And serious discussion. There was play time for younger members (and some of the older “kids”, too!). There were good times – and even a few tears. Dancing? Yes, that happened too! The Albinism Fellowship’s “This is me” Conference was highly memorable and enjoyable for all the right reasons, writes Andrew Bennett, P.R. advisor for the Albinism Fellowship
This was us
Our members returned to Derbyshire for the third time in October for our latest Conference. While there wasn’t much sunshine during a packed weekend of activities, we received as warm a welcome as ever from the Hayes Conference team. And the venue near Alfreton proved to be perfect for a busy 48 hours of albinism.
Counting our speakers and conference exhibitors, there were over 200 delegates for This is Me. Long-time Albinism Fellowship members might correct me, but surely this is some sort of record?
But it wasn’t just about the overall numbers. In keeping with the title, This is Me was all about celebrating life with albinism and taking a positive approach.
So, as well as a sizeable contingent from our core membership base in the UK and Republic of Ireland, we welcome visitors from around the world, including the United States and France.
This was business
There were conference sessions to suit pretty much all tastes. This was my fifth conference and I’m still struck by the fact that there is always something new to learn about albinism and topics related to it.
If you wanted to meet other adults with albinism and discuss hot issues and life hacks, that was possible. For teenagers and adults, there was a guide to make up by No:7 - I’m told this can be a real issue for women with albinism.
Those who craved an adventurous activity had their wish fulfilled with a trip to Derbyshire Activity Centre and families and young people could try out the running line (specially designed for the visually impaired) or goal ball. We made it all happen.
Meanwhile, eye specialists and researchers Mr Jay Self and Dr Helena Lee hosted a medical session covering the basics of the causes of albinism. Experts from Guide Dogs talked about how to work with habilitation specialists to maximise the mobility of your child.
On the Saturday, Mike Hughes advised on Personal Independence Payment for adults with Albinism. And let’s not forget the work of our choirmaster Adam Knott in coaching all our singers over the weekend for the finale – a rendition of This is Me – at the end of the conference. Thanks, Adam!
Asma Bari and Precious Toe, meanwhile, staged a session called ‘Breaking down barriers’ which was a discussion around the challenges faced by people with albinism from different cultural backgrounds.
That’s just a flavour of the conference sessions. They were many, varied and well attended. If you like me, you were at the conference, I hope you got lots out of them.
This was fun
Fancy dress and dancing fans were well catered for on Friday night with our traditional Conference disco. And for those hungry for more dance floor action, the barn dance saw many of our delegates swinging through the steps (with or without Stetsons on).
This was personal
It was great that this year, our Conference attracted many first timers, both people with albinism themselves, and the parents of children with albinism.
Gareth Brydon, who works for Thomas Pocklington Trust, is an adult with albinism and one of those same first-time delegates.
“Over the two days I was amazed by the people I met, stories I heard, and things I learnt. Aside from the positive atmosphere, sense of community, and warmth throughout I was also struck by the power of albinism in bringing together people from across the world in rural Derbyshire to share with one another and stand up proudly to say; ‘This is Me!,” said Gareth.
“I’m already looking forward to the next conference in 2021 and hope to get more involved with the Fellowship generally. Thanks to all involved for an incredible weekend!”
Take a look at Gareth’s blog about his experiences at our 2019 Conference.
And this is my verdict
What was my view about This is Me? As the proud father of two girls with albinism and as someone who has been closely involved with the Albinism Fellowship for almost a decade (and my wife is a Trustee for the charity) it can be tricky at times to ‘see the wood from the trees’.
But what reminded me that what we and other albinism organisations do really does make a difference was the keynote speech.
Mike McGowan, head of the American albinism charity NOAH said that albinism was a factor that united people – never mind their ethnic background, country of origin, age or personal circumstances. Those with it all face the same challenges and can still achieve remarkable things in their lives.
Well said Mike; listening to your humble address about your 25 years working with the albinism community brought a lump to my throat and a tear to my eye. Which says it all.
For more information
If you would like to find out more about our conference sessions, take a look at our website https://www.albinism.org.uk/conference-2019/ Our next conference will be at the same venue in Derbyshire again in autumn 2021. If you would like more information about albinism itself, take a look at this link on our website https://www.albinism.org.uk/about-albinism/
Calum is 13 years old and his Mum Stacey describes him as "such a happy young man". He was undiagnosed for the first seven years of his life, but after he took part in the DDD (deciphering developmental disorders) study he received the diagnosis of CHAMP1 gene mutation, which is an ultra-rare genetic disease. Children with CHAMP1 have varying levels of functionality, the most recurrent symptoms include global developmental delay and severe speech delay or loss.
Calum is non verbal and uses various methods of communicating, such as his iPad and an app called Proloquo2go, which is personalised for Calum to be able to have a voice. He also uses makaton signs. His Mum say's for someone who is non verbal he is by far the loudest person you’ll ever meet!
He loves everything about Christmas, including of course Santa! So his Mum, Stacey, applied online through the Make a Wish website to see if they could make a dream come true for Calum to meet the big man himself in Lapland...his wish came true!
Stacey said when the wish granters came to the house they asked Calum what he wished for. Before the Make a Wish people arrived they had already programmed that he wished to go and see Santa in Lapland. The wish granters then asked him what he'd like to have for dinner with Santa, Calum looked in his food folder and asked for sweet and sour chicken, which made everyone chuckle.
After the adrenalin fun of the husky ride the search began for Santa. The family were taken on a hunt to find Santa visiting the homes of elves including Speedy Sam and Snowy Bowy. They even found Santa's Post Office which was filled with letters that had been posted by children all over the world, but still no Santa. The family headed back to the hotel for dinner, to warm up and rest before the search for Santa resumed tomorrow.
The next morning they headed out on snowmobiles to Wendy Wood's house, which included being in a sleigh whilst being pulled by snowmobiles. At the house they were met by elves who took them to see Mrs Claus. Stacey described how happy Calum was and how heartwarming it was to see how loving he was towards Mrs Claus. They were then led to a secret door and down a staircase to another secret door, on the other side stood Santa, Stacey describes, "The look on Calum's face was absolutely priceless!"
About CHAMP1 Research Foundation
Stacey and her family are now part of a global support group and there are only 57 known champs in the world. They have 53 of those families in their group. Calum is the only person in Scotland diagnosed with the condition. Stacey sits on the Board of Directors of the CHAMP1 Research Foundation that was set up by a family when they received their sons diagnosis: www.champ1foundation.org
Stacey initially crowd funded to make a website when Calum was diagnosed because at the time she said there was no information available online (this was before the foundation was set up): www.champ1gene.com
We can all fondly remember some of the best moments of our life — a wedding, graduation, or the birth of a child. I will never forget the feeling of meeting my twins Maxwell Norman and Riley James for the first time on 27 March 2017, in the wee hours of the morning. I didn’t know a human heart was capable of that much love. At that moment, my entire life’s focus became my family. I no longer cared about my career, current events, or even a really bad haircut. I would give my life unconditionally to protect them. My prayer to God, that they grow up to be healthy, happy and fulfilled members of society with every opportunity life can provide.
At around four months of age, we noticed that Maxwell wasn't progressing in his development at the same pace as Riley. Maxwell showed intent but could not use his hands and could barely move. It was so strange to watch this happy little boy unable to grasp a toy with little-to-no interest in exploring the world around him. Well-meaning friends and family would tell us that boys are slower than girls and every child develops at their own pace. We were reassured that everything would be fine, but my mother’s intuition was telling me a much different story. Riley's milestones became bittersweet as it felt like Maxwell was slipping away in my arms. I was helpless, frantic and suffocating with fear that something was terribly wrong with our dear baby boy.
This fear turned to sheer panic as doctors searched desperately for answers along with us. In June of 2018, my husband and I were led to a cold, sterile diagnosis room at Children’s Hospital where doctors confirmed the unspeakable. My worst fears were confirmed. Mark and I sat before a group of doctors with solemn faces. Genetic testing revealed that Maxwell had a rare neurological genetic disease with only 34 confirmed cases in the world.
It didn’t come from Mark or me, it just spontaneously occurred. It was called SLC6A1 and there was very little known about the condition.
SLC6A1 is a rare neurological disease that causes developmental delay, a movement disorder, speech ataxia and progresses into a debilitating form of epilepsy that is refractory to existing drugs. Doctors could not give us more details other than that because there were so few patients, no patient registry or studies done of the natural history of disease. We were given a five-page article written by a group located in Denmark and told that the hospital would be interested as we learned more about the condition.
The dreaded day we received the news that Maxwell was diagnosed with SLC6A1 was the worst day of my life. Mark and I sat at Children’s Hospital and listened to a never-ending list of things Maxwell would probably never do. I wanted to cover my ears and sing so I couldn’t hear the doctor’s words. The hope that every parent has for their children slowly trickled away. The dreams I had for Maxwell felt like they were slipping through my fingertips and I was totally helpless. The most unsettling realisation was that if anyone was going to help Maxwell, we had to do it by ourselves entirely. We had to create our own miracle.
I was not about to accept this nightmare for my son. I left my promising career in finance and cold-called 200 scientists from across the world over the course of three months to decipher the best path forward. I survived on four hours of sleep, coffee, and cold pizza. I have sent snacks via Uber Eats to researchers that wouldn’t return my calls until they felt compelled to thank me for the gifts. I have attended conference after conference, met with officials from the National Institute of Health, the Federal Drug Administration, and other government agencies. Through perseverance, determination and a self-admitted (albeit small) amount of craziness, I found a path forward.
Maxwell’s disease is due to one half of a gene not functioning correctly. Current technology exists to cure this disease via gene replacement therapy which could restore part or all of his neurological function. Gene replacement isn’t a daily drug, it is a once and done solution where a good copy of the gene replaces the bad copy of the gene. A group of scientists at the University of Texas Southwestern in Dallas were willing to test and develop the therapy that would not only help Maxwell, but every child with this condition. This research will also directly advance treatments in epilepsy, autism, and schizophrenia. My journey to help Maxwell has transcended my little family and we have the opportunity to impact a multitude.
The patient organisation, SLC6A1 Connect, must raise $4,000,000 to complete a clinical trial. The non-profit has already raised $1,000,000 in just one year. We are in a race against time and our goal is to develop a treatment within the next 18 months. The opportunities I long for Maxwell to have are now within arm’s reach.
In our situation, the only choice I was given was to spend countless hours becoming an expert in SLC6A1 and to spearhead the treatment myself. Maxwell doesn’t have time to wait for traditional science to develop a treatment on its own. We were left to bypass the pharmaceutical industry entirely and fund the research ourselves. Gene therapy is the hope for children with SLC6A1 and I am fully focused on progressing a Phase 1 clinical trial as quickly as possible.
I would never use luck and rare disease in the same sentence, however, SLC6A1 does have a silver lining. Our prevalence is much greater than originally thought. The disease is newly discovered and intuitively, you can’t be diagnosed with a disease that does not exist. SLC6A1 was added onto genetic testing panels around the time of Maxwell and Riley’s birth. Prior to that time, there was not a way to be diagnosed with the disease. With all of the light SLC6A1 Connect has shed on the disease, we now know that SLC6A1 is not as rare as we thought. The disease is the 10th leading cause of autism, 6th leading cause of epilepsy and plays a major role in many psychiatric disorders.
For more information
Rare Revolution Editor