Isabelle Webb was just three months old when her parents realised she wasn’t hitting any developmental milestones
WHEN Isabelle Webb was just three months old her parents knew something wasn’t right.
She wasn’t meeting any of her development milestones, like rolling over, but doctors blamed it on her being a “lazy baby”.
It took years of visits back and forth to doctors before Isabelle’s frustrated parents finally got an answer.
Their daughter was diagnosed with chromosome 1p36 deletion syndrome, a genetic condition that causes developmental delays, weak muscles and prominent facial features.
Now three, Isabelle has defied expectations learning to walk.
But she can’t speak and can only communicate via sign language.
Mum Gemma, who is speaking out ahead of Jean for Genes Day this Friday, said the moment she held her newborn daughter, she had a “feeling” something wasn’t right.
“I didn’t get the instant bond that I’d had with my son Stephen, now six,” she admitted.
“The midwife told me she was fine and handed her back. I felt terribly guilty.”
But, over the next few months Gemma, from Croydon, south London, noticed Isabelle wasn’t developing as she expected.
She struggled the breastfeed, then when she switched to bottles Isabelle would only take an ounce of milk every so often.
She wasn’t hitting her milestones, but each time Gemma raised concerns she was reassured by doctors and the health visitor that Isabelle was fine.
“She cried the whole time,” Gemma said. “I hardly slept, it drove me crazy. Isabelle needed me 24/7.
“I was very close to a nervous breakdown. I was working full-time then and it was a very dark time.
A GENETIC CONDITION THAT CAUSES SEVERE INTELLECTUAL DISABILITY
Chromosome 1p36 deletion syndrome is a chromosome disorder that causes severe intellectual disability.
Most affected individuals do not speak, or speak only a few words.
They may have temper tantrums, bite themselves, or exhibit other behaviour problems.
Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder.
They usually have weak muscle tone and swallowing difficulties.
Other features include a small head that’s usually short and wide, vision and hearing problems.
Cause:
It’s caused by a deletion of part of the chromosome 1.
Only about 20 per cent of cases are inherited from parents, the rest occur randomly.
Treatment:
There is no cure for the condition, treatment focuses on managing specific symptoms of the disease.
It may include rehabilitation and educational programmes and medication to treat health conditions, like kidney problems.
Source: Genetic and Rare Diseases Information Centre
“It took two years of my husband David and I battling with the doctors for them to see that there was something wrong.”
At the age of one, Isabelle was still not hitting her milestones.
She couldn’t roll, crawl or sit up. She cried all the time, couldn’t eat solid food and didn’t sleep.
Doctors told Gemma and David their daughter was just a “lazy” baby.
“It was very hard to get any response from her,” Gemma said. “She didn’t seem to recognise us.”
Exhausted, Gemma resigned from her job and David took on more work as an electrician.
Six months later, the couple sought a second opinion.
This time doctors noticed Isabelle wasn’t meeting her milestones – and noted her long, skinny frame and distinct facial characteristics, sticking out ears and a large forehead.
They carried out a series of tests, including genetic testing and MRI scans.
Just before Isabelle’s second birthday, Gemma and David were called in to see the doctor.
He diagnosed her with 1P36 deletion syndrome, and admitted he had never seen a case in his career – warning Isabelle would need life-long care.
“David and I were in shock,” Gemma said.
The doctor explained all the associated problems – developmental delay, hypertonia – muscle problems – feeding difficulties, seizures, heart disease and minor heart defects, hearing and vision loss, spinal and thyroid problems, as well as issues affecting the kidneys, digestion and increased risk of infections.
“It was horrible to hear,” Gemma said. “All the hopes and dreams you have for your child all vanish. She’d need permanent care for the rest of her life.”
Isabelle eventually learned how to walk, although can be very unsteady on her feet and uses a wheelchair when out and about.
She has no sense of danger, doesn’t speak and only uses sign language.
Isabelle suffers absence seizures, which are controlled by medication, but she will sometimes bite her tongue.
She still wears nappies, her behaviour has some autistic traits – she flaps her arms, rocks, chews and bites and finds loud noises too much. She is waiting for an assessment for autism.
As the condition can affect the heart, Isabelle has regular checks to make sure it’s still healthy.
Her eyesight and hearing may also deteriorate but for now doctors have said she is fine.
“It is so tricky to know what the future holds,” Gemma said. “She may stay at this stage or she may grow up almost independent.
“She idolises her brother, she really clings to him.
“She is a thrill seeker, she likes to be thrown up in the air, spun around at the park and be up high on the swings and loves being outside.”
Cameron is blind, partially deaf and can’t speak but won’t let anything get him down
Little Cameron Alderman was born blind and deaf in one ear, due to a genetic disease that only affects boys.
The now five-year-old can’t speak, and is developmentally at the same stage as a one-year-old.
Cameron was diagnosed with Norrie disease, and at the end of last year doctors also told mum Carla Golledge her son has autism.
He was just six weeks old when Carla noticed he rarely opened his eyes, and wasn’t as alert as his sister Morgan, now nine, had been at the same age.
Then, when he did open his eyes one day, Carla noticed a yellow dot on his pupil.
After being admitted to hospital with a tummy bug, specialists examined Cameron’s eye.
“They had the appearance of cataracts,” Carla, 28, explained. “The doctors said both his retinas were detached.
“They told us it could be the genetic disorder, Norrie disease.”
At eight weeks old, an MRI confirmed their suspicions and at five months genetic tests sealed the diagnosis.
Carla was told she is the carrier of the gene that is responsible for Cameron’s condition.
His sisters Morgan and Indie, 17 months, can be tested to see if they too carry the gene when they are adults.
Norrie disease is an X chromosome-linked disorder – which means it only affects boys, though women carriers have a 50/50 chance of their sons being affected.
Babies are born blind, and may also suffer hearing loss, autism, cognitive impairment and a lack of mobility.
It’s so rare only 30 families in the UK are thought to be affected.
A GENETIC CONDITION THAT ONLY AFFECTS BOYS
Norrie disease is a genetic condition that affects boys.
Boys born with the condition are usually completely blind with no light perception.
Some are born with a small amount of vision which usually deteriorates shortly after birth, leaving a few with a little residual vision.
The visual problems are a result of incomplete formation of the eyes during a baby’s development in the womb.
The retina, which is the thin layer of light sensitive cells at the back of the eye, is disorganised and separates from its underlying supporting tissue (retinal detachment).
This results in the development of greyish yellow fibrovascular masses in the back of the eyes which can cause the pupils to appear white.
As the eyes age through childhood and adolescence, secondary issues emerge.
These include eye shrinkage, clouding of the lens of the eye (cataracts), and degeneration of the coloured part of the eye (iris atrophy).
Around 50 per cent of boys with the disease have developmental delays, learning disabilities or behavioural issues.
About 20 cases in the UK are known and up to 800 globally.
Treatment:
There is no cure for the condition, treatment is aimed at managing specific symptoms.
Ophthalmologists, eye doctors, can help remove scar tissue from the eyes but vision will never be returned.
Those with the condition may also need treatment like physiotherapy, speech and language therapy, rehabilitation and other special needs help.
Source: Genetic Disorders UK
Mum Carla told The Sun: “It was very upsetting to be given the diagnosis, we were devastated.
“Finding out I was the carrier meant I had a senses of guilt that I’d passed it on.”
Before the age of one, Cameron had undergone three operations to remove scar tissue from the back of his retinas.
A hearing test when he was three confirmed he is deaf in his right ear, and doctors have warned he could still lose his hearing in the left.
The adorable youngster had a feeding tube fitted in March last year, and his development has been very delayed.
He couldn’t stand up until he was two, started to walk at the age of three, and now relies on a wheelchair when he’s out and about.
Cameron goes to a specialist nursery school, which he loves, and the family live in an adapted bungalow to cater for Cameron’s needs.
“Sometimes I talk to him and I think he hasn’t understood,” Carla said. “We do on-body sign-language.
“Cameron loves bouncing on a trampoline, swimming and hydrotherapy.
“He is such a happy child. His smile strikes you when you meet him. He never lets anything get him down. He is amazing.
“Most people think it is the worst disability, to be blind, but it doesn’t stop him enjoying life.”
It took 12 years to diagnose Jack’s rare genetic disorder
JACK Lockwood is thought to be one of about 200 people in the world living with his condition.
It’s so rare it took doctors 12 years to diagnose the 13-year-old.
Jack has Kleefstra Syndrome, a rare genetic that causes intellectual and physical disability.
He suffers from speech delays, dyslexia, development co-ordination disorder (dyspraxia), learning delays, a heart murmur, dental problems and absence seizures.
His mum, Joanne Lockwood, worries what the future will hold for her son when he finished school.
When Jack was about 18 months old Joanne, 37, started to realise something wasn’t right and raised her concerns with her health visitors.
“Jack wasn’t doing what other children were doing,” she said.
“He wasn’t walking, in fact he didn’t walk until he was two, and his speech wasn’t there.
“He was referred to a paediatrician in Germany, where I was living with my then husband.
“The paediatrician noticed Jack had a wide bridge of the nose and eyebrows that merged together. Jack also had a heart murmur.
“He commented on how sociable he was with a stranger – an ‘over sociability’ which he found unusual.”
Jack was tested for the genetic disorders Fragile X and Angelman Syndrome, which both came back negative.
Joanne, who moved back to the UK after she separated from her husband, enrolled Jack in a special needs school that catered for up to 19 year olds when he was just three.
But she was no closer to a diagnosis for her son.
“I always thought Jack had autistic traits as he ticked those boxes, but he was too sociable,” Joanne, from Tidworth in Wiltshire said.
“At the age of four we saw a geneticist who noted his flat feet and wide hands but told me I may never know the genetic cause.
A RARE GENETIC CONDITION THAT CAUSES INTELLECTUAL DISABILITY
Kleefstra Syndrome is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features.
It’s caused by a tiny piece missing from chromosome 9 in the body.
Mutations or duplications of the chromosome can also cause Kleefstra’s.
There isn’t a one-size-fits-all description of Ks because there is a wide range of symptoms and an even wider range in the severity of those symptoms.
Most cases of Ks are de novo, meaning they are not inherited from either parent.
Symptoms:
- developmental delay
- intellectual disability
- severely delayed or absent speech
- recognisable facial appearance
- low muscle tone
- heart condition
- brain abnormalities and seizures
- features of Autism
- difficulty sleeping
- behavioural problems
- respiratory infections
Less common features include:
- unusual hands or feet
- hearing difficulties
- kidney abnormalities
- loose joints
- dental abnormalities
- childhood obesity
Treatment:
There is no cure for Kleefstra syndrome, all treatment aims at managing specific symptoms of the condition.
Source: Kleefstrasyndrome.org
“Jack joined the Deciphering Developmental Disorders (DDD) study, and it was just a case of waiting.
“He was then about five when an MRI showed he had slight brain abnormalities, showing as smooth patches of the brain.
“We finally got a diagnosis of Kleefstra Syndrome on Valentine’s Day 2017 [when Jack was 12].
“It helped to find out the answer, to know it wasn’t something I had done in pregnancy. It happened as a ‘one off’ when he was conceived.”
Kleefstra Syndrome is a rare genetic disorder characterised by learning difficulties, often accompanied by a range of complex physical and clinical problems.
The exact number of people are affected is unknown, but it’s thought to be around 200 worldwide.
The majority of cases are de novo, meaning it is not inherited from parents but rather occurs by chance.
Joanne knew Jack may have developmental delays before he was even born.
When she was pregnant tests showed he had markers for Down’s Syndrome and she was advised to have an amniocentesis test, a procedure used to diagnose abnormalities in the womb.
“I refused the amniocentesis, I didn’t want to risk anything that could potentially cause a miscarriage and amniocentesis carries that risk,” she said.
A 4D scan later showed he didn’t have Down’s.
No problems were picked up at birth, it wasn’t until he was older that the first signs started to show.
Despite his challenges Jack is a happy child – but Joanne worries what his adult life will be like.
“I am so lucky with Jack as he is a very easy, placid child,” Joanne added. “He is pretty healthy. He has no sleep or behavioural issues.
“His confidence is amazing, and he is very independent, caring and affectionate.
“What is hard is that I don’t know what the prognosis is. Will he work? Will he get married or have children? Will he live independently?
“He is very vulnerable and has no idea of money. I don’t know what the future holds when his education finishes.
“He has his struggles, but Jack is oblivious to it all. We are very happy and he has a positive outlook.”
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