Isabelle Barnett was a normal happy one year old. She’d just started to say ‘Mummy’ and ‘Daddy’ and loved playing with her two big sisters.
But suddenly she lost all the skills she had learnt, she stopped speaking and started tapping her hands and wringing her fingers repetitively. “She became very unsociable and a bad sleeper where she had always been very content. She cried if I tried to talk to her, she just wanted to be alone,” says mum Jenny from Bingley. “We couldn’t understand what was happening to our perfect baby.
“I hoped it was just a stage and that things would be fine, but I was in denial. Something was very wrong.”
The Barnetts went to the doctor and for eight months they went back and forth as they pushed to be referred to a consultant to find out what had happened to their little girl. Eventually they got to see a paediatrician and she said she thought Isabelle had Retts syndrome.
“We had no idea what it was, until we got back to the car and read up on Google. Our hearts broke in an instance. We were grieving the loss of the child we would never have. All our dreams and aspirations were gone.”
Retts syndrome is a very rare neurological condition. It’s a random fault in one of Isabelle’s genes, nothing causes it and it’s not hereditary It affects 1:10,000 girls, They develop normally for the first 12-18 months of their life’s, many learn to walk and talk and then, out of the blue, Retts syndrome strikes and takes it all away. “Girls are robbed of their ability to speak, walk or use their hands. They are stuck in broken bodies. Locked in,” says Jenny.
Not only this, nearly all Rett girls develop seizures, epilepsy, breathing problems, scoliosis and other symptoms.
“It truly is the most horrendous and devastating news any parents could hear,” says Jenny who is determined to keep Isabelle off medication for as long as possible. “It is such a cruel condition as it takes away everything they have learnt, yet as far as we know mentally she is fine. She is trapped in a body that just won’t do as she tells it. She is starting to get frustrated when she can’t tell us what she wants”
Even more cruel is the fact that children with Retts can learn to do some skills again, just for them to be taken away. Despite this devastating diagnosis the Barnetts were not going to give up on their little girl.
“They told us she would never walk, talk or do anything for herself but we are determined for her to live her life to the full, whatever that means.” Jenny does daily physiotherapy on Isabelle to build up her core muscles and as a result she can now sit up. She is starting to stand with the help of her mum .
“Despite all her problems Isabelle is still a very happy baby, who laughs all the time,” says Jenny. “She never stops smiling.
“Since she got glasses she has started to make more noises, she isn’t exactly talking but she is much more vocal, but we know at any moment that can be taken away from her.”
Isabelle, who is three in January, has a special wheelchair which can be raised up and down so that she can sit at the table with her sisters. Jenny has to feed her which can be difficult because of Isabelle’s involuntary hand movements which sometimes means she has to wear splints on her arms.
“When the wringing first started her fingers became so sore they got blisters on them, but she has no control over them.” As well as helping their youngest daughter, Jenny and husband Simon are more than aware of the affect on their other two daughters Matilda, four and Maisy six.
“They are great with her, but Maisy can remember a time before Isabelle developed Retts and that is really hard for her. Isabelle also takes up a lot of my time, so I have to make sure that I give them some mummy time too.” Since Isabelle was diagnosed with Retts the family has fund-raised for research into a cure for the condition.
“Scientists around the globe are working together to ensure there will be an end to this syndrome. Retts has already been reversed entirely in a lab mouse,” explains Jenny. “The chance of a cure is very, very real, we won’t stop till we beat Retts syndrome” More recently they have started to turn their fund-raising attention to purchase things to make Isabelle’s life easier as they know they will also have to adapt their terraced home in Bingley to accommodate Isabelle’s needs as she grows.
“She has to have special toys and we have just raised enough money to buy her an eye-gaze machine with the help of Bibby Financial Services if it hadn’t been for them it would have taken us a lot longer to raise enough money to buy the machine. We thought it would take years with their help it took four months.”
The machine, which costs £12,000 and is made in Sweden by Tobii (a Swedish high-technology company that develops and sells products for eye control and eye tracking) tracks the eyes using infrared technology. As the machine can see where Isabelle is looking, it can help her communicate. It is unlikely she ever speak and can’t do sign language and so the machine is very much a lifeline for Isabelle who is just learning how to use it.
“We really hope it will help Isabelle to be able to communicate with us. We don’t know what the future holds for her. Some people with Retts can live into their 40s, but other suffer breathing difficulties but I can’t let myself think about that as it scares me too much.”
Jenny says they do have their dark moments, but she and Simon have to stay strong for their three gorgeous girls.
“Isabelle is an our inspiration, our love, our drive.”