Mum sets up trust after tot suffers rare form of epilepsy

Published on: 23 Jun 2017

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EIGHT-month-old Faith was sitting in her high-chair tucking into porridge when her head dropped and fell into her feeding bowl.

Mum Jenny Rawling wasn't alarmed, in fact she thought it was cute. But when this happened on several occasions, she grew concerned.

On the advice of her father, a retired medic, Jenny and husband Tim took their daughter to Bristol Children's Hospital.

Doctors tested the tot for infantile spasms, a form of epilepsy so rare that only 400 children a year in the UK are diagnosed with it.

Faith received treatment straight away, however other parents have not been so lucky - the condition is so rare it is frequently misdiagnosed, with sometimes "catastrophic" consequences.

The Rawlings, who live in Downend, embarked upon a steep learning curve about the condition and didn't like what they discovered, namely that an incorrect diagnosis can lead to a child losing all the skills they have learnt, including the ability to swallow.

Now Jenny has set up a charity - UK Infantile Spasms Trust - to raise awareness amongst parents and medical professionals.

Jenny, 42, a vet, said: "It started really subtlely and we didn't realise when Faith showed the first few signs. 

"She was sitting in her high-chair and would suddenly bend forward and get a face-full of porridge or whatever she happened to be eating. We laughed to start with. I feel awful now but we didn't realise anything was wrong.

"Faith then started to have clusters of spasms so her arms would come forward and her head would drop down. It looked like the startle reflex that newborns have, which is one of the things it can be misdiagnosed as.

"As soon as it started to cluster we realised something was wrong. We filmed it and sent it to my dad who is a retired paediatrician. He said we should go straight to A&E as he recognised how potentially serious it was. If my dad hadn't have told us to do that, we would have probably have gone to the GP."

Staff at Bristol Children's Hospital gave Faith an EEG, putting electrodes on her head to measure her brainwaves.

"We were really lucky because a lot of research into infantile spasms has been carried out at Bristol's Children's Hospital and they were able to diagnose her. However, we later found out that a lot of children have been misdiagnosed by their GP or health visitor, or even by a hospital.

Jenny, who also has two sons, Daniel, 10, and Matthew, seven, said Faith was diagnosed the same day as she was admitted.

"Within 12 hours of taking her into A&E, Faith started her treatment and was on very high dose steroids for 10 weeks. She was lucky because that worked for her and she didn't need to go on any maintenance medication. This can vary with the child though and some children need treatment for the rest of their lives."

The most common age for infantile spasms to start is between four and eight months, but it can occur as early as four weeks and as late as two years.

"If children aren't diagnosed within a month of it starting, the outcomes are much poorer long-term," said Jenny.

"A lot of children are misdiagnosed for a long time because it looks quite like reflux and Sandifer Syndrome, a severe form of reflux. If it isn't diagnosed and treated really quickly, it's completely catastrophic for the child's development and children can lose all their skills they have developed. 

"Part of the condition means they have hypsarrhythmia which is where the brain becomes completely chaotic and without treatment, they can regress right back to newborn, losing their ability to swallow, to sit and to roll."

Faith is now three and a typical healthy toddler, although Jenny is reluctant to say her daughter is "cured".

"I'd have to touch a lot of wood if I said that - about 60 per cent of children have other seizures later in life. She's now three and has been seizure-free for two years, which is brilliant but I wouldn't say she's cured."

Jenny was surprised to find there was no UK support group for families.

"We eventually found an international group on Facebook, which is mostly based in America," she said.

"I met a few British people on that group, including a lady who lives Winterbourne, funnily enough. Eight of us have got together and started a UK charity called UK Infantile Spasms Trust. We just wanted there to be something here in the UK because it's such a devastating diagnosis and people just feel so alone. It's so helpful to have the support of other people who have gone through the same thing."

As well as putting parents in touch with each other, raising awareness is also a high priority for the fledgling charity.

The first thing the group did was to put together a film made up of videos of members' children. It's already been viewed on YouTube more than 33,000 times.

"We know of several children who have been diagnosed more swiftly as a direct result of our efforts so far," said Jenny.

Future plans include working with the medical community to raise awareness of the condition. 

This year, the charity's founders are undertaking a huge fundraising drive to enable them to go forward to deliver their plans. Along with three other trustees Jenny will embark upon a 50k ultramarathon walk in Thames Valley this September.

Anyone who would like donate can do so online by visiting https://mydonate.bt.com/charities/ukinfantilespasmstrust

You can find out more about the charity at https://ukinfantilespasmstrust.org/ and can visit their public Facebook page at https://www.facebook.com/UKInfantileSpasmsTrust/

There is also a closed Facebook support group for affected families.

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