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Rare genetic condition means this brave little girl never stops smiling

RealFix by RealFix
September 1, 2015
in Health, Most Popular
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Rare genetic condition means this brave little girl never stops smiling

Jessica Boyes, 11, who suffers from Angelman syndrome with her mother, Kelly Boyes, 34, Milton Keynes, 26th August 2015. A girl who can't speak properly and suffers a string of health problems has a permanent smile on her face - due to a rare genetic condition. See MASONS story MNSMILE; Jessica Boyes has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited. Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.

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An 11 year-old girl who can’t speak and suffers a string of health problems has a permanent smile on her face – due to a rare genetic condition.

Jessica Boyes has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems

But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited.

Collect of Jessica Boyes aged 4. Jessica Boyes who can't speak properly and suffers a string of health problems has a permanent smile on her face - due to a rare genetic condition.  See MASONS story MNSMILE; Jessica has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems   But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited.  Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.
Jessica aged 4

Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.

Jessica’s mother Kelly Boyes, 34, said: “Throughout the pregnancy I was worried I was going to lose Jessica, and then when she was born I didn’t think she looked right.

“I’d told the specialist Jess looked far too happy, she looked like a puppet.

“When the test results came back confirming Jessica had Angelman Syndrome I went out for a meal with my family to celebrate finally knowing what was wrong with her. Now she could get the support she needed.”

L-R Jessica Boyes, 11, with her mother, Kelly Boyes, 34, and sister, Keira Boyes, 9, at their home in Milton Keynes, 26th August 2015. Jessica Boyes who can't speak properly and suffers a string of health problems has a permanent smile on her face - due to a rare genetic condition.  See MASONS story MNSMILE; Jessica has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems   But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited.  Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.
Jessica with her mum and sister, Keira

Angelman Syndrome can be inherited but in Jessica’s case it was caused by a one-off genetic fault at conception.

Children with Angelman syndrome will usually have little or no speech, seizures, movement and balance problems and a small head.

Kelly, who also has a younger daughter Keira, aged nine, said she struggled when she began to overtake her older sister intellectually.

She added: “I remember Keira was six months old and building a tower out of Jessica’s blocks.

“It broke my heart to see that she could do that and her two year-old sister couldn’t. She completely left her sister behind.

“Jessica is now like a two year-old, although she is 11.”

Collect of Jessica Boyes aged 9. Jessica Boyes who can't speak properly and suffers a string of health problems has a permanent smile on her face - due to a rare genetic condition.  See MASONS story MNSMILE; Jessica has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems   But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited.  Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.
Jessica is always smiling

“She is a very happy child. She is always smiling, although she can be mischievous too. She likes to watch TV and loves playing with her dolly, she is very much like a toddler.

“I can’t leave her in a room alone as she is a climber and she’s into everything. I had to put the TV on the wall because she climbed on it.”

Angelman Syndrome is caused when a gene, known as UBE3A, is either absent or malfunctions.

Jessica also has ataxia, which affects her balance and coordination, and causes shaky movements in her hands.

She has poor eyesight, suffers from epilepsy and also experiences sleep problems where she can be awake for hours at night.

Kelly, of Milton Keynes, Bucks., said: “She doesn’t talk at all but she can sign a few words, including ‘more’ and ‘please’.

“She is able to make herself understood as she grabs for things she wants.

“She started walking at the age of seven. I told her one day that if she didn’t walk by the time she was seven she would never walk, as you lose the ability. A couple of months later she walked across the living room.”

Jessica Boyes, 11, who suffers from Angelman syndrome with her mother, Kelly Boyes, 34, Milton Keynes, 26th August 2015. A girl who can't speak properly and suffers a string of health problems has a permanent smile on her face - due to a rare genetic condition. See MASONS story MNSMILE; Jessica Boyes has a chromosome disorder which causes severe learning difficulties, epilepsy, poor eyesight, and sleeping problems   But the traits of Angelman syndrome, previously known as Happy Puppet Syndrome, also include frequent smiling and hand flapping when excited.  Children with the condition, which affects around one in 16,000, also tend to exhibit very sociable behaviour.
Jessica has Angelman syndrome

Kelly described Jessica’s condition as she supported Jeans for Genes Day which raises money to help children with genetic disorders.

Her daughter’s special school in Milton Keynes has received £12,500 from the charity for a horse-riding simulator to improve strength, communication skills and confidence of the children.

Pupils across the country will go to school wearing jeans for Jeans for Genes Day on September 18.

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