The De’Ath family – from left: Adam, Mason, Katie, Florie, Morgan

One Step Forward…

5th June 2015

…and far too many back.

Genetic but not hereditary, Rett syndrome is a rare and devastating neurological disorder afflicting mainly females. It could occur in any family, and affects approximately 1 in 12,000 baby girls born each year.

Kathy Walton talks to two families whose daughters have the condition.

It can’t be easy bringing up a child with severe physical disabilities at the best of times, but imagine what it must be like to watch your healthy child go from being able to walk, eat and communicate normally, to becoming totally dependent on others for her every need.

This was the experience of Katie and Adam De’Ath from Sawbridgeworth, Herts, who saw their bubbly daughter Florie Rae regress almost overnight.
“After two boys we were thrilled to have a girl,” says Katie. “I wanted her to do ballet like me.”

Instead Katie and Adam watched helplessly as they saw their 16 month old daughter deteriorate and lose the ability to walk, talk or feed herself, just after she had learned to toddle and say ‘Mummy’ and ‘Daddy.’

Now aged four, Florie Rae was born with a rare neurological disorder known as Rett syndrome (after the Austrian paediatrician who discovered it in 1966), which affects approximately one in 12,000 live female births. It is hardly ever found in boys.

Typically, a girl with Rett will have poor growth and small hands and feet. Early signs of the condition can include obsessive wringing of hands, screaming fits and grinding of teeth or holding of the breath. Sufferers soon lose their ability to swallow and suffer hypotonia (floppiness), incontinence and the loss of their limbs. Later on, approximately half of girls affected will develop scoliosis (curvature of the spine) and may suffer depression, episodes of self-harm and premature death from cardiac failure or pneumonia.

Devastatingly for parents, the condition usually avoids detection until a girl is aged between six to 18 months, before which development generally appears normal, as Katie recalls: “We first saw Florie acting peculiar [at 16 months] when she started rolling her tongue and putting toys in her mouth so that she could clasp her hands. I remember people saying how cute it was because [her hands] looked like an old lady.”

Adam remembers Florie behaving “like a newborn again” – crying inconsolably for hours and starting to slurp her food.

“We tried everything, singing and rocking her to distract her, but nothing worked. It was very wearing,” he says.

Florie’s speech started to disappear and when her repetitive hand-wringing caused blisters, Katie googled the action. To her horror, the first thing that appeared on screen was Rett UK, the charity that supports sufferers and their families.

“I cried and then rang Adam at work. He and my mum told me off for jumping the gun, but I phoned Rett UK that day. Adam and I both looked at the computer that night [for symptoms] and then I went to Florie and made all the mental ticks,” she recalls.

From that moment on, the De’Ath family’s lives became one long round of medical visits. When Katie presented her GP with a letter from Rett UK, the doctor hadn’t heard of the condition and suspecting autism (with which Rett is sometimes confused in its early stages, because of the inherent communication difficulties), referred Florie to a paediatrician.

Six weeks, much anguish and several blood tests later, the paediatrician diagnosed Rett syndrome.

“We cried and asked ‘why Florie?’ but the confirmation was almost a relief because in the six weeks leading up to it, Florie had been regressing even more,” says Adam.

Florie now has no speech and has lost the functional use of her hands. She is doubly incontinent and because she is forever wringing her hands, twisting her fingers and licking her arm, she often has to wear arm splints for her own protection. She is now developing severe scoliosis and because she can no longer swallow, has been tube fed for the past 18 months.

Yet Katie and Adam say that Florie is a happy little girl who, unlike many Rett children, has maintained eye contact. They have learned to interpret her cries and are sure that she understands much of what they say to her. But she sleeps badly and requires a special bed and a supportive bean bag in order to sit up. Her limbs are so floppy that getting her dressed is tricky and walking is impossible, which Katie finds particularly distressing.

“We think she gets frustrated. It must be heart-breaking for her to remember that she could walk. She is locked in her own body, so she can’t play, but she loves the TV and loves people.”

Traumatic as their experience has been, Katie and Adam have coped brilliantly with Florie’s condition and are remarkably upbeat. Very early on, they were assigned a support officer by Rett UK, who put them in touch with other families, and they were able to get Florie a place at Amwell View school in Ware, for children with severe learning disabilities.

Florie is the only girl in the school with Rett and as such, is unique in not being able to walk or use her hands, but she benefits from a sensory room with interactive walls and floor, eye-gaze computers and touch-sound.

“It’s been amazing, I can’t praise them enough. She loves it, she’s included in everything,” says Katie of the school.

There are other positives too. Adam’s employer (Heronslea Group in Bushey) made Rett UK their charity of the year and Florie’s brothers Morgan (9) and Mason (7) cope brilliantly with her. For all their difficulties, they are amazingly cheerful and Katie admits that they all now approach life so differently.

“Our priorities changed after the diagnosis. We were in debt and struggling, so we moved house. Now we’re in a lovely village and have met people we would never have met before.”

Another family that doesn’t let Rett stop them from leading normal lives are the Twohiggs from Chalfont St Giles, parents of 10 year old Cassie, who was diagnosed with Rett at two and a half, a year after she had started bashing her hands and losing the ability to play with her bricks or turn the pages of a book.

CassieTwohigg with older sister Shannon

Now epileptic and about to undergo surgery for scoliosis, Cassie attends Maplewood SLD school in High Wycombe. For the time being, her parents Tracie and Mike have both given up their jobs to care for her and are helped by their older daughter Shannon, 14, who is wonderful with her sister.

“Cassie and I have the perfect relationship. I love her so much, it’s confusing to hear school friends who argue with their siblings. Having Cassie has made me want to work with disabled kids,” says Shannon.

Despite having their lives turned upside down by Cassie’s diagnosis (Mike cheerfully admits to taking anti-depressants), the family still try to get out as much as possible and enjoy family holidays abroad. They say they get through the bad days with a combination of humour, hard work and, on Mike’s part at least, a dollop of bloody-mindedness.

“I’m typically Welsh. When I’m out with Cassie in the wheelchair and people stare, I ask them straight up if they want to take a photo. When they mutter ‘no’, I say ‘well bu**er off then’.”

Mike and Tracie’s pressing concern now is for Cassie’s future, which they admit terrifies them. They are gearing up for a battle to allow Cassie to have a hysterectomy (currently against national policy) and have no idea how long she will live.

“We would be gutted without her, completely lost. She’ll always be our baby, she never asks for anything, she loves music and teddies. It is terrifying to think that she might leave home [for assisted living],” says Tracie.

They have suffered tactless remarks of course and have lost friends who can’t cope with Cassie’s disability, but say that the experience has brought them closer together and helped them appreciate the important things in life.

“There’s no need for anger, even on days when everything seems against you,” Mike and Tracie say, with astonishing equanimity. “When you get this diagnosis, you must look beyond the fear and really enjoy [your daughter’s] every little step forward.”

Rett UK is 30 years old this year. For info, to donate or to learn about the Rett Family Weekend (9-11 October), see www.rettuk.org or call 01582 798911.

The De’Ath family are hosting Rett Fest, a family festival with stalls, rides, and activities plus bands and live music into the evening, on 18 July at Allenbury's Sport & Social Club, Ware. There is free entry to the event, which is raising money for all of the Rett Charities. On 31 October they are
putting on Florie's Ball at The Manor of Groves Golf Club, High Wych. Tickets are £60 per person and will be raising money for Rett UK & Keech Hospice. For more info on both events see Florie's Facebook page 'Florie's Fund to Fight Rett Syndrome' or www.adamkatiede-ath.wix.com/floriesfight

The Twohiggs have set up an online fundraising site to raise money for a sensory room in their home for Cassie. See www.gofundme.com/mol774

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