My son, 11, will slowly lose the ability to walk and speak after we spotted odd sign during a Joe Wicks workout
A BRAVE schoolboy has been diagnosed with a rare condition which will tragically leave him unable to walk and speak.
Doctors initially diagnosed Leo Powell, 11 with dyspraxia – a condition which impacts movement – after struggling to perform certain exercises during a Joe Wicks follow along in 2020.
But after his symptoms worsened, parents Kelly and Chris feared it was something more serious, DevonLive reported.
Kelly, 36, who has two other children, Braiden, 18, and Emmie, 10, said: “I knew he was getting worse but dyspraxia is not meant to. In September 2023, I contacted the doctor saying I didn’t know what to do.
“We were told we could go back to a physiotherapist but the waiting list was so long.”
In September this year, Leo, from Devon, was diagnosed with Friedreich’s Ataxia, a progressive condition that affects the nervous system and muscles.
The disorder affects one in 40,000 to 50,000 people and typically those aged between 10 and 15.
Those affected will have a shorter life expectancy than their peers and will spend much of their life in a wheelchair.
Kelly recalled: “Leo had not seen anyone medically since his diagnosis of dyspraxia nearly three years ago, and he was getting worse.
“He had walked home from school on his own he fell into someone’s front garden wall and smashed the side of his face.
“He also looked like he had a curve in his spine, had flat feet and would get spasms.
“We were sent to Torbay Hospital for multiple tests. Unknown to them at the time, a suspected diagnosis was FA which is commonly misdiagnosed as dyspraxia to begin with.
“Leo is like my little best friend. It was really hard because you spend all your life trying to protect your children and then something like this happens and you can’t. I didn’t want it to be FA.
“It’s like the lottery you don’t want to win.”
“He received his formal diagnosis on September 11. By then, we were 99.9 per cent sure he had FA, but the 0.01 per cent of hope we were holding onto was completely shattered.”
Kelly revealed what the the future will look like for her brave son, and revealed the tragic extent of his deterioration in the past year.
She continued: “Eventually he will lose his mobility because he is losing the connection between his brain and muscles which is very similar to motor neurone disease (MND).
“It will affect his pancreas so he will likely get diabetes. All his muscles will be affected, including his heart, but thankfully he is showing no signs of that yet.
What is Friedrich's ataxia?
Friedreich's ataxia is the most common type of hereditary ataxia (caused by genes you've inherited). It's thought to affect at least 1 in every 50,000 people.
Symptoms usually first develop before the age of 25, although it can develop in people much older than this.
Signs and symptoms of Friedreich’s ataxia can include:
- problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls
- increasingly slurred, slow and unclear speech (dysarthria)
- increasing weakness in the legs – many people find walking difficult and need to use a wheelchair after around 10 to 20 years
- difficulty swallowing (dysphagia)
- abnormal curvature of the spine (scoliosis)
- total or partial vision loss and hearing loss
- diabetes
- thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain, breathlessness and an irregular heartbeat
- loss of sensation in the hands and feet (peripheral neuropathy)
The symptoms of Friedreich’s ataxia usually get gradually worse over many years. People with the condition tend to have a shorter life expectancy than normal. Many people live until at least their 30s, and some can live into their 60s or beyond.
Source: NHS
“Eventually it will affect his speech and eyes and he already has very limited mobility. In the last 12 months it has gotten so much worse and he is suffering more with fatigue and spasms.”
The mum-of-three is hoping Leo will be eligible for a medication called omaveloxolone (Skyclarys), which could slow the progression of the disease.
It is available in the EU and USA, but has not yet been approved in the UK but potentially could be by 2026.
However, if made available, Leo will need to wait five more years before he can qualify.
Kelly said: “It’s not a cure, but it has been proven to slow progression down in 80 per cent of patients.
“However, you have to be aged 16 and above to qualify for it.
“There are trials being done with children and we have put Leo on a waiting list for one which could take place next year.
“A specialist doctor in Sheffield has told us it could delay Leo needing to be confined to a wheelchair.
Leo is like my little best friend. It was really hard because you spend all your life trying to protect your children and then something like this happens and you can’t
Kelly Powell
“To pay for the medication ourselves would cost over £30,000 just for a month’s supply. I would imagine it would be much cheaper than that for the NHS.
“A cure could be gene replacement therapy but that’s only in stage two of research trials.
“In the meantime, we could wait for the NHS to give Leo a walker, or we can raise the money to buy one and pay privately for physiotherapy or personal training sessions.
“The advice from his specialist doctor is if he had those things it would keep him on his feet for as long as possible and could delay him having to be in a wheelchair before Skyclarys arrives.
“It’s vital to keep him using his legs as long as possible.
“We don’t know how fast his progression will be but it has gotten worse since this time last year. We know what’s coming; we just don’t know when.”
A fundraising page has been set up to help fund Leo’s treatment and has already received over £2,500 in donations.