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The girl who can't speak.

Sunday, April 20, 2014

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A child born with an ultra-rare genetic condition which has left her unable to speak only received the correct diagnosis after her mum researched her symptoms on the internet.
Melissa Adams, 10, from Eccleston in Lancashire, was born with Angelman syndrome, a genetic disorder which affects just one in 25,000 people.
But the youngster was only diagnosed at the age of three after her mother, Kathryn, spent years battling with doctors who insisted there was nothing wrong.
Mother knows best: Melissa Adams, 10, left, has an ultra-rare genetic condition, Angleman syndrome, which renders her unable to speak. She was tested at two years old and finally diagnosed a year later
Mother knows best: Melissa Adams, 10, left, has an ultra-rare genetic condition, Angleman syndrome, which renders her unable to speak. She was tested at two years old and finally diagnosed a year later

Pretty in pink: Melissa Adams, 10, pictured here, is a 'very happy girl and she has this excessive laughter which  gets us all going,' says her mother
Pretty in pink: Melissa Adams, 10, pictured here, is a 'very happy girl and she has this excessive laughter which gets us all going,' says her mother


Kathryn, 48, knew there was something wrong when when Melissa was just 12 months old.
She tells Mail Online: 'Melissa was crying all the time. She couldn't lie on her tummy, wasn't sitting up and wasn't making any of the babbling noises babies normally make.
 
'Her head was very flat at the back too and she wouldn't feed or interact with anybody.
'She'd cling to me like a baby monkey. I knew something wasn't right.'
Kathryn said she took her daughter to the doctors dozens of times but was always told there was nothing wrong and that she would eventually 'catch up.'

Melissa wasn't diagnosed with Angleman syndrome until she was three years old and her mother insisted she was testedHappy family: It was down to the determination of Kathryn, right, that her daughter Melissa, left, was finally diagnosed with Angleman syndrome. She was born with the genetic disorder but doctors dismissed it as 'just a phase'
Melissa, left, wasn't diagnosed with Angelman syndrome until she was three years old. The previous year her mother Kathryn, with Melissa right, insisted she was tested

Smiling baby: Melissa Adams pictured here as a baby in 2005. Melissa said that, from as young as 12 months old, Melissa wasn't hitting her development milestones
Smiling baby: Melissa Adams pictured here as a baby in 2005. Melissa said that, from as young as 12 months old, Melissa wasn't hitting her development milestones

'I was told countless times it was only a phase but my motherly instinct kicked in and I knew it wasn't,' says Kathryn.
Melissa was eventually misdiagnosed as having autism when she was a two-year-old.
'I knew it wasn't autism,' says Kathryn, who is also mum to 13-year-old Jacob.
'They had made me feel incredibly paranoid when they didn't take me seriously and then they just stuck this label on her.'
Determined to prove the doctors wrong and help her daughter, Kathryn started doing her own research on the internet. She typed in Melissa's symptoms Angelman syndrome appeared.
The condition affects the nervous system, causing severe physical and intellectual disability.
'Although Melissa didn't tick all the boxes for it, she ticked most of them,' explains Kathryn.
Melissa, pictured here, is now 10. When she was two years old her mother Kathryn managed to get her a referral to Alder Hey Children's Hospital in Liverpool for a genetics test
Melissa, pictured here, is now 10. When she was two years old her mother Kathryn managed to get her a referral to Alder Hey Children's Hospital in Liverpool for a genetics test

'I now know that was because Angelman syndrome covers quite a wide spectrum and Melissa has one of the rarest types.'
She returned to her doctors but, again, felt like she was, 'banging my head against a brick wall.'
'Even with all the information out in front of them they still didn't think it was Angelman,' says Kathryn.
'One doctor even told me that Melissa was 'too pretty' to have it, which I found really quite shocking.'
Kathryn finally managed to get her daughter a referral to Alder Hey Children's Hospital in Liverpool for a genetics test when she was two years old.
'It had been a real battle to get doctors to take me seriously,' says Kathryn.
'The test was expensive so they were reluctant to refer her but I literally begged them.'
The doctors even agreed to carry out a second test, after the first came back negative.
'But the second test proved I had been right all along,' says Kathryn.
Kathryn, pictured her with daughter Melissa, along with friends and family, has now set up the Melissa Adams  Angelman Foundation in a bid to help raise awareness of the condition and raise funds to find a treatment or cure
Kathryn, pictured her with daughter Melissa, along with friends and family, has now set up the Melissa Adams Angelman Foundation in a bid to help raise awareness of the condition and raise funds to find a treatment or cure

Melissa was finally diagnosed at the age of three with Angelman syndrome and, just a few months later, was also diagnosed with epilepsy.
She who has mobility issues which often cause her to stumble as she walks,
Kathryn, who lives with her husband Stephen, 52, a service engineer, said: 'I felt a real mixture of emotions when she was finally diagnosed.
'I was relieved that we finally had answers but I was also very upset because I knew Melissa would never grow up to enjoy a normal childhood. I
'I knew she would never really get better and that was hard.
'At the same time I was also really angry that it had taken so long for a correct diagnosis and I felt like, if I hadn't persevered, she would have been stuck with the label that she was autistic.'
There is currently no treatment for Angelman syndrome, although research into the condition continues.
Kathryn, along with friends and family, has now set up the Melissa Adams  Angelman Foundation in a bid to help raise awareness of the condition and raise funds to find a treatment or cure.
Saints stars Mark Flanagan, Sia Soliola and Willie Manu all recently become ambassadors for the charity too.
'Melissa is now a very happy girl and she has this excessive laughter which gets us all going,' says Kathryn.
'But I suspect there are a lot of children who have been misdiagnosed because many doctors have never heard of the syndrome.
'If I hadn't done my own research, we would never be where we are today. I was angry they hadn't listened to me from the start.'
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