My son, 11, will slowly lose the ability to walk and speak after we spotted odd sign during a Joe Wicks workout
A courageous child has been diagnosed with a rare disease that will sadly prevent him from speaking or walking.
Leo Powell, 11, was first identified by doctors with dyspraxia, a movement disorder, when he had trouble with several exercises during a Joe Wicks follow-along in 2020.
Parents Kelly and Chris, however, were concerned that something more serious was going on when his symptoms got worse, according to DevonLive.
“I knew he was getting worse, but dyspraxia is not meant to,” said Kelly, 36, who also has two other children, Braiden, 18, and Emmie, 10. I told the doctor in September 2023 that I was at a loss for what to do.
“We were told we could go back to a physiotherapist but the waiting list was so long.”
Leo from Devon was diagnosed in September of this year with Friedreich’s Ataxia, a degenerative disorder affecting the muscles and nervous system.
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Usually affecting people between the ages of 10 and 15, the condition affects one in 40,000 to 50,000 persons.
Affected individuals will spend a large portion of their lives in a wheelchair and have a lower life expectancy than their peers.
“Leo had not seen a doctor since his dyspraxia diagnosis almost three years ago, and he was getting worse,” Kelly recounted.
He broke the side of his face after falling into someone’s front garden wall while walking home alone from school.
He also appeared to have flat feet, a curvature in his spine, and spasms.
“For a number of tests, we were transported to Torbay Hospital. They were unaware that FA, which is frequently misdiagnosed as dyspraxia in the first place, was a suspected diagnosis at the time.
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“My tiny best friend is Leo. It was extremely difficult because you strive to protect your kids your entire life, but then something like this occurs and you are unable to do so. FA wasn’t what I wanted.
“It’s like the lottery you don’t want to win.”
“On September 11, he was officially diagnosed. We were 99.9% certain that he had FA by that point, but the 0.01% of hope we had left was totally destroyed.
Kelly disclosed the terrible depth of her courageous son’s decline over the previous year as well as what the future holds for him.
“He is losing the connection between his brain and muscles, which is very similar to motor neurone disease (MND), so eventually he will lose his mobility,” she added.
He will probably get diabetes as a result of the pancreatic damage. Fortunately, he is not exhibiting any symptoms now, but all of his muscles, including his heart, will be impacted.
What is Friedrich’s ataxia?
The most prevalent kind of hereditary ataxia (caused by genes you’ve inherited) is Friedreich’s ataxia. At least one person out of every 50,000 is believed to be affected.
Although it can occur in people far older than 25, symptoms typically appear before the age of 25.
Friedreich’s ataxia symptoms and indicators 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)
Over many years, Friedreich’s ataxia symptoms often progressively worsen. The condition typically results in a shorter life expectancy than average. Some people can live into their 60s or beyond, and many people live until at least their 30s.
Source: NHS
“He already has very little mobility, and it will eventually impact his speech and eyes. It has significantly worsened during the past 12 months, and he is experiencing greater exhaustion and spasms.
The mother of three is hoping that Leo will qualify for omaveloxolone (Skyclarys), a drug that may be able to delay the disease’s progression.
It is accessible in the USA and the EU, but the UK has not yet approved it, though that could change by 2026.
Leo will have to wait five more years to be eligible, though, if it is made available.
Kelly stated: “It has been shown to slow down progression in 80% of patients, but it is not a cure.
However, in order to be eligible, you must be at least 16 years old.
“Children are undergoing trials, and we have Leo on a waiting list for one that might happen the next year.
According to a Sheffield specialist, it might postpone Leo’s need for a wheelchair.
“Just a month’s supply of the drug would cost over $30,000 if we had to pay for it ourselves. For the NHS, it would probably be far less expensive.
Gene replacement therapy is just in the second round of research studies, but it may be a cure.
“We could either raise the funds to purchase a walker and pay for private physiotherapy or personal training sessions, or we could wait for the NHS to provide Leo with one.
“His specialist doctor has advised him to have such items in order to prolong his mobility and possibly prevent the need for a wheelchair till Skyclarys arrives.
“He must continue to use his legs for as long as possible.
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“His condition has gotten worse since this time last year, but we don’t know how quickly it will improve. We simply don’t know when, but we know what’s coming.”
To help pay for Leo’s therapy, a fundraising website was created and has already raised over $2,000.
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