In January 2018 one of my close friends John and his brother Simon found out that their nephew, Charlie, had been diagnosed with MECP2 Duplication Syndrome. Charlie is 14 months old.

MECP2 Duplication Syndrome is caused by a second copy of the gene MECP2 and usually affects males. These boys struggle from an early age, with developmental delay, very little or no speech, floppiness, immobility, difficulties with feeding, seizures, and compromised immune functioning. But recent research shows that there is great promise for curing MECP2 Duplication Syndrome. Due to the straightforward genetic mutation which causes the syndrome, it is a first-line target for gene therapy.

Here are some words from Charlie's mother, Fiona;

"In 2016 our beautiful baby Charlie was born, our family was complete. Every day since he was born he has bought such joy to our lives, with each day getting better and better.

At around 10 months old I started to suspect something wasn’t right. Charlie was falling behind on his milestones, only just sitting up at this point. People kept telling me that he was just a lazy boy and he would catch up but in my gut I knew there was something wrong.
After many appointments and various tests Charlie’s bloods were sent off to Manchester Children’s Hospital for genetic testing. On Tuesday 9th January 2018 our world was turned upside down when Charlie was diagnosed with MECP2 Duplication Syndrome.

MECP2 Duplication Syndrome was discovered in 2005. It is a very rare progressive neurological disorder, primarily affecting males. Common features include non-verbal communication, low muscle tone, developmental delay, intellectual impairment and/or autistic traits, recurrent deadly respiratory infections, and epilepsy. About half of individuals have seizures, often of the tonic-clonic type. This type of seizure involves a loss of consciousness, muscle rigidity, convulsions and may not respond to medication. Some affected individuals experience the loss of previously acquired skills (developmental regression).

How can our perfect gorgeous little boy have such a devastating condition? The shock made me physically sick, every part of my body aches at the thought of the future Charlie now has compared to the future we had imagined for him. Will Charlie ever walk, say “Mummy” or “Daddy”, make friends or go to school…. the list goes on. Every day I think of something else Charlie may never do and everything comes crashing down again.
I always dreamed of dancing with my boy. This will never happen.
But there is a glint of hope.

In 2015, it was revealed that researchers at the Baylor College of Medicine, led by Dr. Huda Y. Zoghbi, have reversed MECP2 Duplication Syndrome in mice using antisense therapy. The 401 project is dedicated to raising the funds to help research – watch this space!
We are so close to clinical trials, and we will stop at nothing to make sure Charlie, and everyone else with this awful condition can get the treatment they deserve.

I cannot express enough thanks to the people that have supported us so far. It has been so encouraging got us through the hardest days of our lives. I have had messages from people in Scotland, New Zealand, America & Australia, all people I have never met before; the power of social media is amazing.

We are at very early stages, and currently have no further information in to the severity of Charlie’s condition. It is likely we will have to travel far and wide to specialists that have even heard of MECP2 Duplication.
We are a long journey ahead of us and every day will be a learning curve.
One thing that will never change is the love we have for our little boy, our lives are now dedicated to saving Charlie’s."

Since receiving the diagnosis, Fiona and her husband Andy have been reached out to by other families whose children have the same condition. Blake McMillan, 5, is one of these children, and it was his mum Jenny and Fiona who came up with the idea of cycling from Blake's home in Scotland to Charlie's in Macclesfield. Family and friends will be taking part in this mammoth bike ride over hills and through valleys to raise vital funds for the research into a cure which appears tantalisingly close.

CURE MECP2