Mom told her daughter would never walk watches her take her first steps

By Hannah Van De Peer via SWNS

A mum was "shocked" when her disabled daughter took her first steps at the age of 18 - after being told she'd never walk.

Karen Tilley, 43, was told her daughter, Josselin, would spend the majority of her life in a hospice, and may never read, talk or walk.

She was born with CHARGE syndrome - a rare genetic condition that affects many areas of the body and causes a wide range of birth defects, like heart defects, hearing loss and immune system problems.

Karen noticed Josselin was missing "all" her milestones - and a doctor referred her to a geneticist, who diagnosed her with CHARGE after a blood test when she was three months old.

Doctors warned Karen that Josselin may "never" be able to walk, talk or read.

But at the age of 18, Karen was stunned to see Josselin standing independently, walking with an InnoWalk aid and playing an interactive iPad game.

Mum-of-two Karen, a housekeeper, from Westbury, Wiltshire, said: "Doctors told Josselin she may never be able to stand up independently or take her first steps - but she’s still achieving these things now.

"Josselin was delivered via an emergency c-section - but I was told she was developing normally other than that.

"Then, she started not meeting her milestones.

"She didn’t learn to sit up, roll or babble - and she was floppy like a newborn.

"I knew something must be wrong."

Karen was 39 weeks pregnant when she was told Josselin needed to be delivered.

On March 22, 2006, she visited her midwife in the morning for a routine check-up.

But was told Josselin had a slow heartbeat - so she was rushed to the hospital in an ambulance to give birth so the tot could have CPR.

Josselin was born at 12.14 pm in the Royal United Hospital, Bath - weighing 6lb 2oz.

“I was very, very lucky she pulled through,” Karen said.

“I went under the anesthetic - and when I woke up, I remembered.

“I thought: ‘I’m not pregnant anymore. I’ve got a daughter.’

“Josselin was lucky there had to be pediatricians nearby, who could come and resuscitate her.”

Doctors administered CPR to newborn Josselin for three minutes - while her heart rate was "completely flat".

She was taken to the NICU - where she stayed for 24 hours.

Just 48 hours later, after being discharged, Karen had to bring her back to the hospital.

She said: “I’d be quite scared to look at Josselin - when we left hospital, I could barely wake her up.

“I had to drip-feed her through a syringe because she wouldn’t latch on and drink any milk.”

At a routine six-week vaccine, Karen took notice of the other mums in the doctors’ surgery.

She realized Josselin hadn’t reached the first milestones typical for a six-week-old baby - including focusing her eyes, holding her head up or smiling.

The tot also failed her newborn hearing test at just three weeks old - and was diagnosed as profoundly deaf.

Doctors noticed she had a condition called coloboma - which means some of the tissue that makes up her eyes are missing.

“Even at two months old, she was still floppy like a newborn,” Karen said.

“We went to see an audiology consultant at Bristol Children’s Hospital.

“He said: 'Josselin is profoundly deaf, and she’s got coloboma - I think these are symptoms of something else'."

At three months old, Karen took Josselin to a geneticist at RUH Bath, who administered a series of blood tests.

Three months later, she received a letter stating Josselin had a genetic malformation - and a diagnosis of CHARGE syndrome.

Karen said: “A lot of doctors didn’t know much about it.

“We pay £2.5k every other year to go to the International CHARGE syndrome conference in cities across the US.

“I was told it’s a life-limiting condition, but it’s a spectrum.

“Some kids are able to go off, go to uni and have some independence.

“I had no idea where Josselin would land.

“As the years went by, she didn’t learn to read or walk.

“In fact, at 18 months old - she was referred to a hospice, which really upset me.

“Now, it’s a much-needed respite.”

Josselin has a number of complications associated with her CHARGE syndrome - including needing a ventilator to breathe at night, as well as a pacemaker and a wheelchair.

She can’t read, write or speak - her vision is significantly impaired, as well as her hearing.

But just weeks ago, she managed to confidently stand up herself, for the first time.

“We’d just turned up for our session at Gympanzees - a disability support organization in Bristol,” Karen said.

“Josselin was playing with the lights in one of the end rooms.

“My son, Dalton, 12, was playing pool on the interactive TV.

“Josselin went over and put her head on it.

“Before we knew it, she was undoing her own strap on her wheelchair, pulled herself up and stood to look at it.

“I was stunned - she does do physiotherapy with standing frames - but she pulled herself up.

“She seemed really steady on her feet, watching the pool ball move.

“The service also provides a machine called an InnoWalk - enabling her to walk by herself.

“She’s never done anything like that before.”

Karen says, that despite Josselin being an adult, she still manages to achieve different milestones every day.

“The plan is for Josselin to do more traveling,” she said.

“She’s even been indoor skydiving.

“She loves the US - we’ve been to Orlando, Phoenix and Dallas, so far.”

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