My baby daughter started pulling her hair out – now she’ll never walk, talk or live beyond 19
WHEN 18-month-old Lucy Glenn was learning to walk and talk, her behaviour suddenly changed.
Her mum, Katherine McCready, 31, said she’d appeared “completely healthy”, but suddenly stopped playing with her toys, would sit in the corner facing the wall, and began pulling out her hair due to stress.
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It wasn’t until doctors at Queen Alexandra Hospital in Portsmouth diagnosed Lucy that Katherine realised these were the first signs of Rett syndrome – a rare genetic condition that affects brain development causing severe mental and physical disability.
Now 13, Lucy is no longer able to walk or talk and requires 24-hour care, trapped in a body that cannot do what the brain tells it to.
Katherine and her partner Dan, 33, from Cosham, Portsmouth are now fundraising for Eye Gaze technology for Lucy, who can understand more than she can show, which will allow her to communicate with her eyes.
“Lucy developed completely normally until one day she woke up and something was different, but I didn’t know what,” Katherine, who runs a garden maintenance business, said.
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“She managed to pull all her hair out of her head out of stress, so I rushed her to the doctor.
“A few months later, we were told Lucy has Rett syndrome, that she will never walk, never talk and won’t live beyond 19.
“Those words will always stay in my head, it felt like my world just fell apart.”
Katherine said her daughter had a healthy birth, arriving 17 days late, and developed normally until 18 months old.
She had learnt how to say basic words and was close to walking when her behaviour took a turn.
Katherine said she rushed Lucy to hospital and was referred to a paediatrician after she pulled out all of her hair in distress.
“She was sent for a blood test and my family started to drop hints that they were concerned,” Katherine said.
“We didn’t know any signs to look out for and I was in denial about how serious it was.”
A week before Lucy’s second birthday, doctors told Katherine her daughter had Rett syndrome, a condition affecting one in 10,000 girls born each year according to the NHS, and would not live beyond her teenage years.
“It was awful,” Katherine said.
“I was mourning for Lucy’s life, for my life, scared of what was to come.”
Overtime, Lucy regressed and lost all the skills she had developed as a toddler.
At the age of four, she had to have a feeding tube inserted, and now lives on a strict blended food diet to help combat reflux and constipation.
She has severe food intolerances where even a bread crumb will make her severely ill for two days
Katherine McCready
“She has severe food intolerances where even a bread crumb will make her severely ill for two days, so we have to be really careful,” Katherine said.
Lucy now relies on a wheelchair and needs help with every aspect of her life, but that doesn’t hold the family back.
Katherine and Dan, who is not Lucy’s biological father but has been with Katherine since Lucy was five, take the 13-year-old on holidays, camping and to concerts.
The family even go to festivals, travelling in a van full of Lucy’s equipment including two wheelchairs, a standing frame, medication, feeding tubes and emergency supplies.
“People think we’re a bit mad as we have to take a van-load of equipment and medical stuff, but we go for it and make as many memories as we can,” Katherine said.
“Lucy absolutely loves music, especially Ed Sheeran and Harry Styles.”
Fight for an Eye Gaze
Katherine is fighting for Lucy to have her own Eye Gaze, which will enable her to communicate with the outside world and do more of the things she loves.
The device, which costs £10,200, works by tracking Lucy’s eye movements and correlating them with information and a keyboard on a smart screen.
With support and training, Katherine hopes her daughter will be able to use the technology to talk with her eyes by constructing sentences via eye pointing to words and symbols.
“Lucy is a person who is locked in there,” Katherine said.
“At the moment, she gets frustrated when a song comes on she doesn’t like so we’re always ready with the remote. Or if she wants a shower, for example, she will look towards the stair lift.
“But when she is trained with the Eye Gaze, she will be able to communicate what she wants by forming sentences with her eyes.
“It can also be connected to smart devices which means she could turn off the lights and choose her own music and programmes on Alexa or on the TV.”
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Lucy is not eligible to receive an Eye Gaze device from any of the few charities, non-government funded, that offer it.
Determined to give Lucy a voice with the device, the family launched a Gofundme page and has so far raised £7,642 of their £10,000 target.
“Lucy is such an infectious, happy, loving person and I’m so proud and so grateful for her,” Katherine said.
“We know if she is in a good mood if there are lots of smiles or in a bad mood if she is crying.
“But this will give her so much independence, a voice and an opinion which I think is going to help her massively.
“The possibilities are endless.”
To donate to Lucy’s GoFundMe, click here.
Rett syndrome symptoms
Rett syndrome is a rare genetic disorder that affects brain development, resulting in severe mental and physical disability.
It’s estimated to affect around one in 10,000 girls born each year and is only rarely seen in boys.
Some children with Rett syndrome are affected more severely than others. Also, the age at which symptoms first appear varies from child to child.
A child may not have all the symptoms of Rett syndrome, and their symptoms might change as they get older.
Rett syndrome is described in four stages, although symptoms will often overlap between each stage.
Stage 1 – early signs
Symptoms include:
- 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
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 stage 3, 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 there may be improvements in alertness, attention span and communication. Their walking may also improve (or they may learn to walk, if they could not before).
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
Gaining and maintaining weight can also be difficult to achieve.
Stage 4 – deterioration in movement
Stage 4 can last for years or even decades. The main symptoms at this stage 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 6 years, and the risk reduces after puberty
- muscle weakness and spasticity (abnormal stiffness, particularly in the legs)
- losing the ability to walk
Visit the NHS website for more information.