A brave mum has shared distressing video of her tot’s seizures to raise awareness of the baby girl's ultra-rare condition – which is the same syndrome that killed former British Prime Minister David Cameron’s son.
After a perfect pregnancy and smooth childbirth, parents-of-three Emma Baxter, 25, and Scott Collis, 27, took home a happy and healthy baby girl Phoebe in April 2016.
But at just five weeks old, little Phoebe started having episodes where she would lie on the floor and shake uncontrollably.
After a gruelling four-month hospital stay, Phoebe was diagnosed with Ohtahara syndrome at 23 months – an incredibly rare form of epilepsy with a life expectancy of two to four years old.
“That first week Phoebe was in hospital I couldn’t even bring myself to go in,” said Emma.
“I kept making excuses for why my partner needed to go instead. I felt like that wasn’t my baby, my baby was healthy.
“But then something just clicked and I realised that I needed to be there for her. She is my daughter and it didn’t matter what was wrong with her.
“I went in and I never left her side after that, we've been together ever since. It has definitely made our bond stronger.
“It has been very hard. They diagnosed Phoebe with epilepsy early on but they needed to try her on different medications and she kept getting worse and worse.
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At her worst, Phoebe would suffer between up to 100 seizures a day that would leave the toddler’s limbs completely stiff and her crying and screaming in pain.
“Her seizures became infantile spasms,” explained Emma.
“She went from having uncontrollable shakes to having these fits where all four of her limbs would arch upwards and she would go completely stiff.
“You couldn’t move her at all and she would be screaming and crying in pain. They would last for up to 20 minutes and she would have between 80 and 100 a day, it was awful.
“When we got the diagnosis I was just so confused. I had never heard of Ohtahara syndrome before.
“To be told it was life-limiting was devastating. I couldn’t believe it, I just kept thinking ‘why her?’ It's so so sad.
“Phoebe’s development is so slow, she is almost two and she’s about as developed as a three-month-old and she’ll never really get past this point. She will always be like a baby.
“Her brain doesn’t process what she sees and hears properly and she can’t really feel pain like we do. Sometimes she bites her hands and feet and it’s really hard, not just a little nibble, but she doesn’t feel it."
While Emma, of Basingstoke, UK, could lose Phoebe at any moment, the mum tries to stay positive and focus on the tot’s incredible progress.
“One of the things that hit me the hardest was knowing I would never hear her say ‘mummy’. It’s a little thing so many people take for granted. It is really difficult knowing I will never get to hear her little voice.
“Also as a mum you want to know your kids are okay and happy and talking is how they tell you that.
“But Phoebe has her own ways of communicating. When she’s excited, she kicks her legs really fast and if you leave the room she starts moaning. I have learnt to love that."
The remarkable toddler, who will never develop past infant stage, has gone from strength to strength since coming home in September 2016 – and has been seizure-free for six months.
Now Emma, who says living with her daughter’s condition can be very lonely, is determined to raise awareness for other families and offer some of the ‘amazing’ support she and Scott have had from Phoebe’s medical team.
“I wouldn’t change her,” said Emma, who is also mum to Lilly-May, five, and three-year-old Alfie Collis.
“It might sound silly but her disability is what makes her who she is. There’s no point dwelling on what she can’t do and if she’ll live to this age – it’s too upsetting.
“We know that she could go at any time and it could happen really quickly. She could get a chest infection and not be able to fight it but you can’t focus on that, you need to stay positive.
“She’s made it this far and the progress she’s making is amazing. Every new thing she does and every day she is seizure-free is a miracle. I'm so proud of her.
“There is no point feeling sorry for ourselves because it is what it is, all you can do is your best with the hand you're dealt. I don't know what other challenges Phoebe will face but I do know she will never face them alone.”
Ohtahara syndrome is a genetic defect which also causes a brain abnormality and effects 0.2 per cent of the UK’s 60,000 epilepsy suffers – so just 120 people.
Former PM David and Samantha Cameron’s son Ivan, who sadly died in 2009 aged just six, is the only other widely reported case of the condition, which slows development and weakens the immune system.
While she's doing incredibly well Phoebe will be on medication for life and has around 10 doctors’ appointments a month for physiotherapy, sensory treatment, occupational therapy and consultant check-ups.
“The doctors looking after Phoebe have been absolutely amazing, we have had an incredible amount of support – I couldn’t fault it,” said Emma.
“You need it because there is nobody else out there. I’ve never encountered anyone whose child has Ohtahara syndrome.
“Having a child with a disability is so lonely. None of my friends or family can understand what it is like.
“That’s why I want to share Phoebe’s story, if I can make just one person feel less alone then I have done what I need to do.
“And I want people to be more aware. I had never heard of Ohtahara and I really didn’t know about epilepsy either. People need to know more about it, it could happen to anybody.”
WHAT IS OHTAHARA SYNDROME?
• This is a very rare epilepsy syndrome. Seizures start before 3 months of age.
• Most babies have an underlying structural brain abnormality. This may be genetic in origin (passed on through the genes), or happen because of brain damage before or around the time of birth.
• Seizures often start in the first 10 days of life. Seizure types are variable but often include tonic spasms, where the baby suddenly has stiffening of the limbs lasting a few seconds.
• They will also have focal (partial) motor seizures with jerking of one limb, or one side of the body, lasting seconds to several minutes.
• Generalised seizures may happen later. After several months, seizures may change to infantile spasms (West syndrome).
• Affected babies do not behave normally. They are very floppy and excessively sleepy (described as an encephalopathy) and often have difficulty with feeding. With time they may develop stiffness (spasticity) in the limbs.
• They also make very little developmental progress and remain totally dependent. They often feed poorly.
• Sadly, they often die within the first two years of life, because of complications, including repeated chest infections.
• Those who do survive are usually severely disabled and will continue to have seizures despite treatment.
(Information from Epilepsy Action)
- Additional reporting Caters News
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