November charity news – Reverse Rett
“They have given us hope for the future”
Catherine McKinney, 39, tells why Reverse Rett’s research is vital for families like hers
Until the age of one, our daughter Eliza was perfectly healthy. Her development was
a bit slow, but there was nothing to really concern us and she was babbling, pointing and waving and had started to say a few words.
However, when Eliza was 15 months old, she rolled off the bed and landed awkwardly on her ankle, so we took her to our local hospital. Her ankle was fine but, noticing she was a bit late with her development, the doctor referred Eliza to a paediatrician just in case there was a reason for the delay.
It took about three months to get the appointment, by which time she was crawling but still not standing, and she had also stopped talking and responding to her name. They looked for any physical reasons why she might be unable to walk and performed a variety of different tests, including a hearing test, a brain scan and initial genetic testing, but everything came back clear.
She was diagnosed with Global Developmental Delay and referred for physiotherapy and speech therapy, and we presumed her development would catch up. However, by the time she was two years old, she seemed increasingly distant, had stopped making eye contact, cried when she was in crowded places and would wake up in the night distressed.
In June 2014, just after Eliza turned three, we received a phone call from her paediatrician to explain she had tested positive for Rett syndrome, which is a rare genetic condition, taking away her ability to walk, talk or control her movements, as her body is unable to obey signals from the brain.
My husband and I had never heard of the condition and were completely devastated. It was heartbreaking to think Eliza’s future would be so different from what we had imagined.
Although Eliza understands everything going on around her and is now very sociable, she can’t communicate anything to us other than through the expressions in her eyes. She can’t do sign language or point to things, as she doesn’t have enough control over her hands, so it’s really just guesswork on our part to anticipate her needs.
There are also associated problems with Rett syndrome – which are likely to get worse with age – including digestive problems, seizures, sleep problems, general anxiety and curvature of the spine, so we worry about what Eliza’s future might hold. Overriding everything though is a worry of early death, which is tragically a risk for children with Rett syndrome, due to complications with breathing or heart problems.
I know that unless treatment or a cure is found for Rett syndrome, Eliza won’t have any kind of independent life or be able to participate as her brother and sister can, which is why the work of Reverse Rett is so important. Since Eliza’s diagnosis, I have taken part in fundraisers and recently met up with one of the scientists who managed to reverse the syndrome in mice. He now thinks it could be the first curable neurodevelopmental disorder, which gives us real hope for the future.
There are so few things Eliza can do and to give her the opportunity to do even one of those things – to be able to walk, talk or even just give us a hug – would dramatically improve her quality of life. This research is bringing us one step closer to finding the cure that would change all our lives.
Reverse Rett – THE FACTS
- Rett syndrome is a post-natal neurological disorder, most often affecting girls.
- Symptoms include loss of speech, hand use, mobility, breathing dysfunction, orthopaedic problems and seizures.
- Research has shown that girls with Rett know and understand much more than their bodies allow them to show – but they are locked in, trapped by a body that cannot obey brain signals
- Reverse Rett was founded in 2010 by a group of parents of girls with Rett syndrome. Visit reverserett.org.uk
BIG GIVE UPDATE
Rett syndrome is most often caused by mutations in a gene called MECP2. The £133,032 Reverse Rett raised is helping to fund the MECP2 Gene Therapy Consortium, who are working together to further develop gene therapy techniques in order to cure this disease.