Mum with ‘smiley, babbly baby’ lost her overnight to locked-in syndrome that stole her ability to move or talk
A SINGLE mum felt like she “lost her daughter overnight” after her child developed a rare condition which keeps her locked in her body and prevents her from walking and talking.
Poppy Allard, now 10, was born a seemingly healthy baby and was babbling and picking things up as expected, when, at around 15 months, her behaviour suddenly changed.
Her mother, 41-year-old nurse Victoria, said “alarm bells rang out” when Poppy stopped making noises, answering to her name, and lost the use of her hands.
Poppy, from near Folkestone in Kent, was referred to Clinical Genetics at Guy’s Hospital in London, where at the age of two she was diagnosed with Rett Syndrome, an incurable disease which impacts brain development that affects around one in 10,000 girls born each year, according to the NHS.
Rett Syndrome affects girls almost exclusively and results in severe mental and physical disability, but patients still retain their cognitive abilities, leaving them trapped in a body which will not do what the brain tells it to.
Mum Victoria, whose second child Daisy is 13, said: “Poppy was about a year old and everything up until that point seemed absolutely normal.
“All her milestones were coming up as you would expect … I didn’t really think for a minute that there was any problem.
“One minute, I had this really smiley, babbling baby, and then the next day, it was like she was gone.”
Poppy was born in 2014, and at first she seemed to be a healthy baby.
“She sat up, she was very engaging, she started to smile and babble,” Victoria said.
“She was using her hands to play with toys and pick tiny things up that she found in the carpet that she was not supposed to.
“I didn’t really think for a minute that there was any problem.”
But a few months after her first birthday, everything suddenly changed.
Poppy stopped progressing at around one-year-old, but at 15 months, she regressed.
“As she passed the year mark…she sat up, but did not move and we were not getting any more development with her motor skills, so she didn’t start to pull herself up on furniture and things like that,” Victoria said.
“And then on the particular day, it was almost like I lost her overnight, she suddenly just stopped engaging.
“She stopped looking at me, she didn’t answer her name – she wasn’t making any noises.
“It was quite terrifying because that’s when it really hit that something very serious was wrong.”
That’s when it hit me like a bus, and I started to realise that she probably wasn’t going to be a typical child in the sense that we see a typical child, and that was very emotional
Victoria Allard
Rett Syndrome typically becomes apparent after six to 18 months of age when children often lose skills they had gained and stop reaching further milestones.
When Poppy’s troubling symptoms started, she was initially referred to a physiotherapist, who suggested she might have a genetic or chromosomal disorder because she had low muscle tone.
“That’s when it hit me like a bus, and I started to realise that she probably wasn’t going to be a typical child in the sense that we see a typical child, and that was very emotional,” Victoria said.
Victoria described waiting for a diagnosis as a “harrowing time, with many sleepless nights”.
A common symptom of Rett Syndrome is seizures, and Poppy experienced her first seizure at age three, although they have been relatively infrequent.
“I was actually driving in the car, and she was in the back of her car seat, and her eyes rolled to the back of her head, and she became very, very vacant,” Victoria said.
“I think she stopped breathing momentarily and she was very pale.”
‘A blessing and a curse’
Victoria said it is a “blessing and a curse” that “cognitively, she’s like an average child” who understands things easily, adding it is a “really common misconception” that children with Rett Syndrome cannot have strong cognitive abilities.
Poppy uses Eye Gaze technology, where she looks at symbols on a screen that enable her to communicate.
“Her communication has returned – as much as it’s not typical, I know exactly what she wants, I know exactly what she needs,” Victoria said.
Poppy will be undergoing surgery in both hips in the summer and will have metal rods inserted into her spine in a few years as she has developed scoliosis.
Victoria said caring for Poppy and her other child Daisy while being a single mother had been “extra scary”, although she had had support from her parents.
“For example, if her health really deteriorates and something happens which means that she needs to be cared for 24/7, or she couldn’t go to school, then I don’t know where that leaves us as a family financially and how we would manage,” she said.
“Basically, it makes all of the uncertainties of the condition a lot worse I think, because if there’s someone working with you as a team to do things together, it’s very different.
“We don’t know what the future holds. We don’t know what’s coming, but we just have to kind of roll with it and deal with what happens as it comes.”
But Poppy’s “very special personality” has won the hearts of healthcare workers and professionals who have helped her in her development.
“I call her a ray of sunshine, because despite everything that she has to face and everything going on for her, she’s so cheerful,” Victoria said.
“She wins the hearts of people that she meets … people want to work hard to look after her because of how bright her personality shines through.”
Victoria said she is “really grateful” to her sister for fundraising for Reverse Rett.
“It really means a lot to me,” she said.
Now, Victoria’s sister Hannah Prebble is taking on the challenge of swimming, running and cycling 200km in a month to raise money for Reverse Rett, a UK charity working towards treatments and a cure for Rett Syndrome.
To find out more about Hannah’s fundraiser, go to: gofundme.com/f/hannahs-100km-triathlon-mashup-for-reverse-rett-poppy.
The four stages of Rett syndrome - signs and symptoms
SOME children are affected by Rett syndrome more severely than others, but the condition is described in four stages.
Stage 1: early signs
The child will appear to develop and grow normally for at least six months.
Then the following subtle signs may appear:
- low muscle tone (hypotonia)
- difficulty feeding
- unusual, repetitive hand movements or jerky limb movements
- delay with development of speech
- mobility problems, such as problems sitting, crawling and walking
- lack of interest in toys
Stage 2: regression
During this stage, the child starts to lose their abilities (usually around the ages of one and four).
Signs at this stage include:
- loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to control and include wringing, washing, clapping or tapping
- periods of distress, irritability and sometimes screaming for no obvious reason
- social withdrawal – a loss of interest in people and avoidance of eye contact
- unsteadiness and awkwardness when walking
- problems sleeping
- slowing of head growth
- difficulty eating, chewing or swallowing, and sometimes constipation that may cause stomach aches
- problems with heart rate or heart rhythm
Stage 3: plateau
During this stage, some of the stage 2 symptoms may get better – for example, there may be improvements in behaviour, with less irritability and crying.
The child may become more interested in people and their surroundings, and their walking may also improve.
Other symptoms at this stage include:
- seizures
- irregular breathing patterns may get worse – for example, shallow breathing followed by rapid, deep breathing, or breath-holding
Stage 4: deterioration in movement
This stage can last for years or even decades.
The main symptoms are:
- development of a spinal curve (the spine bending to the left or right side), known as scoliosis. This is more likely from the age of six years, and the risk reduces after puberty
- muscle weakness and spasticity (abnormal stiffness, particularly in the legs)
- losing the ability to walk
Communication and brain function don’t tend to get any worse.
Seizures also usually become less of a problem during teenage and early adult life, although they will often be a lifelong problem to manage.
Source: NHS