Baby girl with ultra-rare genetic condition and epilepsy suffers 40 seizures a DAY leaving her parents terrified she will die in her sleep
- Maisie O'Brien, 15, months can have seizures lasting up to an hour
- Has epilepsy and an ultra-rare genetic disorder called Shox Depletion, which means she is missing part of an X chromosome
- Parents sleep on a camp bed next to her cot in case she fits in the night
- Are fundraising for a mat which will sound an alarm if she has a seizure
The parents of a baby who suffers up to 40 'terrifying' seizures a day are petrified she will stop breathing while they are asleep.
Maisie O'Brien, 15 months, can be struck by the episodes - which can last as long as an hour - at any time.
The infant suffers from both epilepsy and an ultra-rare genetic disorder called Shox Depletion which means she is missing part of an X chromosome.
Maisie's mother, Nicky O'Brien, 29, said she or her husband Neil, 43, sleep in a camp bed next to their daughter's cot in case she starts fitting overnight.
Maisie O'Brien, 15 months, has up to 40 'terrifying' seizures a day. She was diagnosed with epilepsy and an ultra-rare genetic condition called Shox Depletion at nine months old. Pictured with mother Nicky, 29
Now, they are fundraising for a new mat and a sleep apnoe machine, which will both sound an alarm if Maisie stops breathing.
Mrs O'Brien said: 'On a good day, Maisie will only have one or two seizures, but other times it can be more than 40. I think the most she's ever had in one day is 46.
'It's terrifying when it happens, but despite all of this, she's the happiest and most loving child you could wish for.
'My husband Neil and I are thankful to have such an amazing daughter in our lives.'
Maisie, who lives with her family in Wisbech, Cambridgeshire, had her first seizure when she was seven months old.
At first, doctors thought it may be a febrile convulsion – a relatively common occurrence affecting roughly one in 20 children, which sees their bodies become stiff and their arms and legs twitch.
But, as the months drew on, Mrs O'Brien noticed her daughter was not hitting usual milestones.
To this day, she struggles with coordination and cannot use her hands.
Then, when she was nine months old, she was formally diagnosed with focal frontal lobe epilepsy and Shox Depletion at Queen Elizabeth Hospital in King's Lynn.
The Shox gene provides protein that regulates the activity of other genes, playing an important role in the growth of bones in the arms and legs.
The fact that Maisie doesn't have the gene means she has slowed growth.
Maisie, pictured in hospital, suffers from both epilepsy and an ultra-rare genetic disorder called Shox Depletion
Doctors in charge of Maisie's case had never seen a genetic make-up like hers before, and are still investigating whether she could also be suffering from a number of other conditions
The episodes can strike Maisie at any time, and last as long as an hour. On four occasions, Maisie's seizures have been so severe that she has needed oxygen to bring her back round
The doctors in charge of Maisie's case had never seen a genetic make-up like hers before, and are still investigating whether she could also be suffering from a number of other conditions.
Mrs O'Brien said the different types of seizures the toddler has make it difficult to find medicine that works for her.
She explained: 'Sometimes, she'll have tonic clonic seizures, which affect the entire brain.
'When she has these, her eyes will go left and her arms and legs will twitch'
Tonic clonic seizures are what most people would think of as an epileptic fit.
Those in the throes of them may feel their bodies become stiff and can sometimes lose consciousness and wet themselves.
Mrs O'Brien continued: 'She also has absent seizures where she becomes vacant, staring into space and smacking her lips.
'These can last up to an hour, which is really horrible to see.'
On four occasions, Maisie's seizures have been so severe that she has needed oxygen to bring her round.
'Her seizures could be fatal, which is the worst fear for any parent of an epileptic baby,' her mother says. Maisie is pictured with mother Nicky and sister Lottie, eight
'Night times are the most worrying for us, as she could stop breathing or vomit and choke on it,' Mrs O'Brien said. The family are raising money for a mat and a sleep apnoea machine which would both sound an alarm if she stopped breathing for more than 10 seconds
As respiratory failure is a very real threat during an episode, Mrs O'Brien said she or her husband will sleep in a camp bed next to their daughter's cot in case she has a fit in the night.
They also have CCTV in her room to make sure they can keep a close eye on her at all times.
'Night times are the most worrying for us, as she could stop breathing or vomit and choke on it,' she said.
'Her seizures could be fatal, which is the worst fear for any parent of an epileptic baby.'
So far, doctors have been unable to identify a pattern to Maisie's seizures.
To try and make night time less stressful for the family, her parents are currently raising money for a special mattress which will sound an alarm should she begin to convulse.
They are also hoping to buy a sleep apnoea machine, which monitors her breathing, and will also sound an alarm if she doesn't take a breath for 10 seconds.
'It's terrifying when it happens, but despite all of this, she's the happiest and most loving child you could wish for,' Mrs O'Brien said. Maisie is pictured with her sister Lottie
A GoFundMe page called 'Maisie's epilepsy seizure mat' has been set up to help crowdfund the costs.
At present, more than £1,300 has been raised of the £1,500 target in just ten days.
Mrs O'Brien, who cares for Maisie full time, said: 'Having a seizure mattress and a sleep apnoea machine would make life that little less stressful at night, because sleep deprivation is obviously exhausting not only for Maisie but for the whole family.
'Having this equipment in her room would give us all peace of mind and could ultimately save her life.'
For more information visit: www.gofundme.com/wu9tufdm
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