Being a teenager is difficult enough but it can be even more challenging if you have a rare condition like Dundee teenager Eilidh Kiddie.
The 15-year-old has Friedreich’s ataxia and was diagnosed with the condition four years ago.
It is a genetic disorder which causes progressive damage to the nervous system resulting in movement problems and difficulties with co-ordination.
There is currently no cure.
New drug which treats Friedreich’s ataxia
But a new drug, Skyclarys, which was approved in America earlier this year, has been shown to improve the lives of those who have Friedreich’s ataxia.
Eilidh’s mum Sally, 47, who works at Heal Physiotherapy in Dundee as a physiotherapist, said the drug could make a big difference to her daughter’s condition.
“The drug is the first ever treatment for Friedreich’s ataxia and it slows progression,” Sally explained.
“Some of the test subjects actually improved.
“It gives my daughter hope that she won’t continue to worsen in her walking and remain as independent as she can, for as long as she can.”
However, in order for Skyclarys to be available in the UK, it needs to be approved by the Medicines and Healthcare products Regulatory Agency (MHRA).
Sally continued: “We need the new drug to pass license in Europe and in the UK.
“Eilidh’s specialist is in Sheffield so he can access it when it has MHRA approval.
“He’s hopeful it will be by the end of the year and it can’t come soon enough.”
She added: “Ultimately, it is gene therapy that will provide a cure but there are other treatments in the pipeline that Eilidh will hopefully access as they become available.”
Charity welcomes new drug for Friedreich’s ataxia
National medical charity, Ataxia UK, aims to provide funds to support research into ataxia.
Viktor Elzer, senior brand and communications manager at Ataxia UK, said the new drug is positive news.
He said: “Earlier in 2023 the ataxia community was delighted by the approval of a Friedreich’s ataxia treatment developed by Reata Pharmaceuticals.
“Skyclarys has been approved by the drug regulators in America (the FDA) for people over 16 with Friedreich’s ataxia.
“For it to be available in the UK, it needs to be approved by the UK regulators (the MHRA).
“Reata Pharmaceuticals, the company developing Skyclarys, haven’t given a timeline for when they expect to apply to the MHRA.”
He added: “Skyclarys has the potential to slow the progression of the condition.
“As the first drug approved to treat FA, approval by the FDA is a huge step for the entire ataxia community.”
What were the Dundee teenager’s symptoms?
Symptoms of Friedreich’s ataxia can include problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls.
Sally said Eilidh’s symptoms began when she was around ten years old.
She said: “She started getting tested when she was ten years old and was diagnosed before she was 11.
“Her balance and co-ordination wasn’t great and her teacher picked up that her handwriting was a bit slower than it had been.
“Friedreich’s ataxia is genetic but there is no previous record of it in our family – on either side.
“It is a neurodegenerative disease so it is progressive.
“It doesn’t affect cognition at all but it affects her movement so sometimes she uses a walker and sometimes a wheelchair.”
Physio helps the Dundee teen’s Friedreich’s ataxia symptoms
Eilidh has regular physio sessions in Dundee.
Sally said: “I don’t treat her myself but one of my team, Heather, at Heal Physiotherapy sees her regularly.
“I also have good friends who are neurological physiotherapists who add input.
“She tends to respond better to others as I’m her mum!
“Recently she attended an intensive rehabilitation week at Motion Rehab in Leeds for five days of physio/occupational therapy and rehabilitation using robotics.
“She really benefitted from this and we’ve booked for her to go again in November.”
Sally continued: “Eilidh has had to make adjustments through her teenage years as it has affected how her body moves.
“It hasn’t been easy.
“But she is amazing and very strong.”
How many people in Scotland have Ataxia?
There are a few different kinds of Ataxia which generally present with poor co-ordination or changes in co-ordination.
Some types of ataxia affect children from an early age.
While other types may not develop until later in adulthood.
According to Ataxia UK, there are currently over 10,500 people in the UK diagnosed with ataxia.
And approximately 1600 people are affected by ataxia in Scotland.
First Fun Run for Ataxia in Dundee
Ataxia UK funds research into the disorder with the goal of developing new treatments.
And to help the charity do this, staff at Heal Physiotherapy, of which Sally is a director, are organising a fun run in Dundee next month. It takes place at Riverside on September 5.
Sally said the run starts next to the Discovery Point Museum [at 6.30pm] and heads out along the Riverside.
“People can choose to do either the 4km run or a 2km walk this year.
“It’s about trying to encourage people to get active but to also raise some money for charity in the process.”
Sally is on organising duties, so isn’t running, but her husband Graeme, 45, is taking part along with Eilidh’s older brother Murdo, 16. Eilidh’s other brother, Ruaridh, 11, will also be there with his sister.
Less than 30 places remain. To sign up, visit here.
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