What is Rett syndrome? Distraught mother reveals plight of toddler with RARE genetic disorder
TRAFFORD, GREATER MANCHESTER: For any parent, every little activity of their child is a milestone - be it their first coherent word or the first time they rolled over and began to crawl. To have it all snatched away is beyond cruel. But this is what happened to Sandra Gamble and her little daughter, Ruby Pollard.
Little Ruby was a healthy child, and until the first two years of her life, she could say words like "papa" and "mama" as well as crawl on her hands. Suddenly, all of this disappeared as the toddler seemed to lose the ability to do all that she had gradually learned over two years. Very soon, she could not babble, crawl or sit up by herself, reports The Mirror.
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Sensing that there was something wrong, Sandra became immediately concerned. However, it still took years to find out what was wrong with Ruby, reports Manchester Evening News. Initially, they figured it was autism, but later realized it was something far greater. Ruby was diagnosed with Rett syndrome, a disorder that causes severe mental and physical disability.
Web MD describes the condition as "a rare, severe, and progressive disorder that affects mostly girls. It can impact your child’s ability to speak, walk, eat, or breathe easily." Symptoms can be observed within the first two years of the child's life. This neurological disorder is lifelong, and while there is no cure, early detection and treatment can help one's child adjust better to the condition.
"I’d never heard of the disorder, even when they asked for my consent to do a test," Sandra told the outlet, adding she "knew nothing about it whatsoever." However, when her daughter's diagnosis was confirmed, she was informed that it was a "rare genetic disorder." Speaking of the effects of Rett syndrome, not only on their daughter, but what they have gone through as parents, Sandra says, "It’s been really hard and upsetting. You think you’re reaching these milestones like crawling and it stopped. She was full regressed. It was deflating – you feel deflated. What else is Rett syndrome going to take from her?"
In addition to the regression, Rett syndrome brings along epilepsy. Ruby, now 5, has started suffering seizures, can no longer use her hands consciously, and cannot stand on her own. "She’s my baby and she’s locked in her body," said the heartbroken mother. Ruby had been diagnosed with epilepsy in March this year and is on medication. Her last attack was on July 13, revealed her mother, who says that they are "always just waiting... always holding your breath." Despite her pain, little Ruby is a happy girl, who can still use her voice to the extent that allows her to express herself emotionally. Her current treatment includes rounds of physiotherapy and hydrotherapy in an attempt to provide some sort of relief.
While there is no certainty whether Ruby will ever walk or talk again, they have been made aware of a special mobility trike that could function as an alternative to Ruby's wheelchair and provide some sort of independence. Sandra said that they're still hopeful for their daughter, adding that there is a woman still alive in her 70s who suffers from the same disorder. Ruby is only five, and "there’s hope she will build up her muscles," she said.
"We had all these therapy sessions and scans and I was concentrating on what’s going on with Ruby and what the disorder could be. I let it take over rather than have quality time with my baby," said Sandra. A fundraiser has been set up which will help the family get the trike for Ruby.