Norfolk teenager with rare disease is face of national awareness day
- Credit: Sanofi Genzyme
A Martham teenager’s story of living with a rare disease is being taken up by a national drive which has its awareness day tomorrow
Bronte Thomas suffers from McArdle’s disease and is one of only 12 people in the country with the condition.
It means her body cannot process glycogen, the stored form of sugar, the effort to power her muscles causing toxins to leak into her organs.
For her even the most simple tasks like unscrewing a bottle can leave her in pain and exhausted - and the extra work needed to walk on snow and shiver could potentially lead to kidney failure.
Speaking about her experiences is part of a national drive to highlight the plight of people with rare diseases whose suffering is not matched by funding or research.
To publicise the issue a group of parliamentary leaders will unite with patients and charities to form the One Voice Choir at Westminster Tube Station for Rare Disease Day, tomorrow, Wednesday.
Bronte and her mother Rachel Thomas travelled to London earlier in the month for rehearsals and Bronte has taken part in some filming for the awareness day.
MORE: Martham teen dives in to help raise awareness of rare conditionMrs Thomas said diagnosis came late for Bronte at around the age of 14.
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Because feeling pain is the main indicator of how well she is, masking it with pain relief could make her worse, as could physiotherapy.
More funding could lead to earlier diagnosis and more research into treatments and cures.
“Rare diseases get nothing, because hardly anyone has got them,” Mrs Thomas said.
Bronte’s condition affects every single skeletal muscle.
Mrs Thomas said she was proud of her normally very private daughter for getting involved.
The family are trialling a new high fat, low carb diet which could help.
Bronte is a creative media student at North Walsham’s Paston College who has to dig deep daily to keep up with her peers.
The choir will take place just before Prime Minister’s questions at 11am tomorrow.
The event has been organised by Sanofi and the choir will be led by Joe Prescott, a musician and choral conductor who plays with the London Musical Theatre Orchestra.
How rare is ‘rare’?
A rare disease affects one person in 2000 or fewer.
However, collectively rare diseases are not ‘rare’, as 3.5 million of us will be impacted by a rare disease within our lifetimes.
That is nearly one in 17 people in the UK.
With that said, fewer than one in 50,000 people are born with an ultra-orphan disease, also referred to as ‘ultra-rare or ‘very rare’.
Due to their small prevalence, many of those affected by rare and ultra-orphan diseases face challenges in receiving a diagnosis or accessing treatment, which can have a life-changing impact on a patient and those they care about.
Inspired through the power of song
The choir will be singing songs that hope to inspire listeners to overcome challenges they may face, as the rare disease community has to do every day.
Such songs will include Bridge Over Troubled Water by Simon & Garfunkel, Don’t Stop Believin’”by Journey and Climb Every Mountain from The Sound of Music.
“Raising awareness is a fundamental part of what we do at Rare Disease UK and we have a busy schedule of activities planned around Rare Disease Day. “I’m delighted to be a part of the One Voice Choir as one of those activities,” said Dr Jayne Spink, Genetic Alliance UK CEO, Chair of Rare Disease UK.
“Many people may be hearing about rare diseases for the first time, so we hope that as well as enjoying the choir performance, people will also be prompted to find out more about rare diseases and how they affect patients and their families.”