By Kim Reader
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 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 Collis 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, now 23 months, was diagnosed with Ohtahara syndrome – an incredibly rare form of epilepsy with a life expectancy of two to four years old.
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.
At her worst, Phoebe would suffer between 80 and 100 seizures a day that would leave the toddler’s limbs completely stiff and her crying and screaming in pain.
While Emma, of Basingstoke, Hants, could lose Phoebe at any moment and will never get to hear her say ‘mummy’, the mum tries to stay positive and focus on the tot’s incredible progress.
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.
Former sales assistant Emma, who gave up her job to be Phoebe’s carer, said: “That first week Phoebe was in hospital I couldn’t even bring myself to go in.
“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.
“Her seizures became infantile spasms. 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.
“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.
“I wouldn’t change her. 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.
When Phoebe first started suffering shakes, Emma claims doctors suspected they may just be muscle spasms often seen in babies as their strength develops.
But when their baby girl spent almost three hours continuously shaking on May 24 2016, Emma and Scott knew they had to call an ambulance and Phoebe was rushed to Winchester Hospital.
A series of painful and invasive tests including EEGs, a lumbar puncture and blood tests revealed Phoebe had epilepsy and the tot was kept in hospital so doctors could trial different medications in order to find the right one.
However as Phoebe rapidly deteriorated and her seizures became more aggressive and more frequent she was transferred to the care of specialists at Southampton Hospital on June 7 2016.
Doctors tried the brave toddler on various medications, including steroids which made her swell up, before settling on anticonvulsant Topirimate and epilepsy drug Keppra which got Phoebe’s seizures down to 15 a day.
After months of sharing their time between Phoebe’s hospital bedside and looking after her older siblings Lilly-May Collis, five, and Alfie Collis, three, Emma and Scott were finally allowed to take their baby home.
But Emma described bringing Phoebe home as ‘bittersweet’ as the mum was constantly terrified and would spend ages staring at the tot to make sure she wasn’t showing any signs of seizing.
Emma said: “Watching Phoebe go through all the tests was horrible. I was an absolute wreck, I just couldn’t stop crying but the nurses were so lovely.
“She has been on so many different medications and so many of them didn’t work. They tried her on one anti-epileptic called Vigabatrin that suddenly made her heart rate drop so she came straight off that.
“Then she was on steroids and they made her swell up so much she was unrecognisable, she looked like a different child. Her cheeks were so big and red they looked like they might explode.
“Balancing our time between hospital and the kids at home for four months was really tough. Alfie was too young to understand but Lilly was just starting school and she was so upset.
“She couldn’t understand why her sister couldn’t come home and why she could only see her once a week.
“It was such a long time to be in hospital but the doctors were amazing. They found the right combination of medications for Phoebe.
“They made sure Scott and I knew how to give her her rescue medicine and that we were completely comfortable.
“Bringing her home was definitely bittersweet. On one hand it was the best feeling in the world, on the other I was scared about being on my own without all the doctors and nurses.
“I was constantly worried that if she had a seizure I would panic and do the wrong thing. I would stare at her to make sure she wasn’t seizing. It was the most terrifying time.”
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.
Having a child with a disability can be very lonely, according to Emma, who has not found anyone else whose child has Ohtahara syndrome.
But the mum has had incredible support from insurance assistant Scott, their kids, and Phoebe’s medical team.
Now Emma is sharing Phoebe’s story to show other families living with Ohtahara and other disabilities that they are not alone.
Emma said: “Phoebe is so lucky to have her sister and her brother, they are brilliant with her. They are so gentle and they help with her medication.
“Phoebe has no concept of playing but Alfie will lie with her on the floor and try to play, it is really sweet. They love her.
“I want them to know that just because she has a disability she isn’t any different to them. They should treat her how they would want to be treated.
“The doctors looking after Phoebe have been absolutely amazing, we have had an incredible amount of support – I couldn’t fault it.
“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.”
Last week David Cameron revealed how his son’s diagnosis devastated his family – but how scientific breakthroughs in genome sequencing could help parents who find themselves in a similar situation.
Emma’s brother Joe Baxter is running the London Marathon to raise funds for Young Epilepsy. To donate click here https://www.justgiving.com/fundraising/baxrunsthemarathon
FACT BOX: 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)
FACT BOX: WHAT IS GENOME SEQUENCING?
• Genome sequencing allows researchers to read every bit of an individual’s DNA code.
• A genome profile gives doctors a new, advanced understanding of a patient’s genetic make-up, condition and treatment needs, ensuring they have access to the right drugs and personalised care far quicker than ever before.
• It also helps to develop life-saving new drugs, treatments and scientific breakthroughs, which experts predict could significantly reduce the number of premature deaths from cancer within a generation.
• In 2012 former Prime Minister David Cameron launched the 100,000 Genomes Project to map the DNA of 70,000 patients with cancer, rare diseases and their families.
(Information from www.gov.uk)