My five-year-old looks drunk – mum’s struggle with son’s rare genetic disorder
A little boy has been diagnosed with a rare genetic condition – which gives him symptoms that make him appear DRUNK.
Adorable Henry Barber-Riley, five, suffers from a rare genetic condition that can cause him to suffer episodes where he becomes dizzy, staggers, slurs his speech – and can even be sick.
Mum Laura, from Lutterworth, Leics, claims even pals have told her that Henry looked “stoned” in photographs – and she struggled for almost five years to get him diagnosed.
Laura, 35, said: “The best way I can describe Henry’s episodes is that he appears drunk, becomes very unsteady on his feet, and his balance is severely affected.
“It also makes him very sick and during the worst episodes his speech can become slurred.
“It is really scary to see your child struggling to talk. When he is really bad, which is not that often, he gets disorientated, starts slurring his words and is like someone that has had one too many.
“There doesn’t seem to be a pattern or triggers for the episodes, and Henry goes through phases. Sometimes he will have two or three episodes a week and than other times he can go two weeks without one.
“He is on a drug now which is quite good for him and his episodes.
“He copes amazingly well with his EA2 and will even put himself to bed if he needs to. He is very strong minded.
“Sleep is always the cure though. If Henry can get two or three hours of sleep after an episode then he wakes up feeling much better.
“But Henry is such a friendly little chap – he’s larger than life and has a cheeky smile for everyone he meets.
“Everyone at the school knows Henry and it’s great for us as his family to see that Henry is making friends, and he’s so affectionate, hugging everyone all the time.”
Laura noticed five-year-old Henry’s eyes rolling into the back of his head often as a newborn baby, but dismissed her fears after she was initially told that this was the case with many infants.
Henry’s genetic condition, Episodic Ataxia type 2 (EA2), is so rare that fewer than 100,000 people worldwide are affected by the condition and took until he was nearly five-years-old to diagnose. He also has Paroxysmal Tonic Upgaze (PTU) which has been diagnosed in only 100 babies in the world.
It was only after a routine six month check by a health visitor that Henry’s eye rolling was noticed as irregular and he was swiftly diagnosed with PTU by a neurologist.
But as Henry’s eye rolling became more severe, mum-of-two Laura couldn’t help but realise something much more severe was afoot.
Laura said: “By the time Henry was two years old he started having severe episodes that were completely different to his eye rolling.
“Henry would become very unsteady on his feet, almost like his balance was affected, and he would be very sick during them.
“A lot of newborn babies have trouble controlling their eyes, so we didn’t think anything of it at first.
“Henry’s eyes would bounce up and down in his head when he was having an episode to start with.
“By chance I saw another child that had PTU and got Henry diagnosed.
“As things progressed, Henry would go a white, grey colour and get dizzy before going all over the place.”
Henry’s EA2 is so rare, that Laura asked doctors to conduct genetic tests after receiving advice online from other parents whose children had also been diagnosed with PTU since the symptoms were very similar.
But in a cruel twist, due EA2 being a genetic condition, Laura and her husband Brian, 35, knew that there was a chance that either of them could be carriers of the illness.
Laura said: “In the end, I asked the neurologist to do genetic tests for Henry, although they took seven months to come back with a result.
“My husband and I were tested to make sure that there wasn’t a chance that we had the faulty gene.
“If we did, it was a 50 per cent chance that we would pass it on. But it turned out it was a random mutation in Henry’s DNA.
“It was a tough experience to go through. This is something he will never grow out of and will get worse the older he gets.
“Some people have the same symptoms all of their life, but others don’t experience episodes for ages.
“Henry’s condition is not life limiting, but it does affect the quality of his life.
“Particularly when Henry has bad episodes it is very difficult.
Despite the extreme nature of Henry’s condition however, Laura and her husband have managed to tackle Henry’s illness well.
While he is at a disadvantage to other children, Henry has started school and the family has attempted to provide him with as normal an upbringing as possible.
Laura and Brian are now raising awareness about EA2 with Jeans for Genes in a bid to fund the same network that helped them so much throughout Henry’s diagnosis.
This year, Jeans for Genes day will raise money for peer-to-peer systems using web and social media so that parents can engage with others and receive advice.
Despite not knowing how Henry’s condition will affect him in the future, Laura is positive that her son will take developments in his stride.
Laura said: “We aren’t sure what the future holds as the condition manifests itself very differently in each individual, but we are incredibly positive.
“We have a fantastic family unit and have made plenty of friends along the way.”
Dr Rajib Samanta, Consultant Paediatric Neurologist at Leicester’s Hospitals, said:
“Episodic ataxia is a group of related neurological conditions with recurrent episodes of varieties of symptoms, for example, poor coordination, balance, dizziness, nausea and vomiting, headaches, blurred or double vision, slurred speech, and ringing in the ears.
“Seizures, muscle weakness and paralysis affecting one side of the body may also occur during attacks. Some individuals may have varieties of movements of muscles, e.g. cramps, stiffness, continuous fine muscle twitching during or between episodes.
“Symptoms can begin anytime from early childhood to adulthood. It could be triggered by emotional stress, caffeine, alcohol, certain medications, physical activity, and illness.
“The frequency of attacks can greatly vary. Between episodes, ataxia may worsen over time, and the patient may also have involuntary eye movements called nystagmus.
“Episodic ataxia is uncommon, affecting less than 1 in 100,000 people.
“An affected person might have inherited the mutated gene from one affected parent. It might be due to new mutations in the gene that occurred in people with no history of the disorder in their family.”