It's a race against time to help scientists discover a treatment for MECP2 Duplication Syndrome, a rare genetic disorder that affects our own son Dara. 100% of any money raised will go to the dedicated MECP2 Duplication Fund (at the Reverse Rett Research Trust) and from there it will directly fund international MECP2 Duplication research projects.

Dara is our beautiful son. He has a heart melting smile and the cutest little ringlety curls and he loves to giggle as his sister makes fart noises on his tummy.

Some of you may remember Dara’s rough start in life. He spent 2 months in a ward in the Royal Hospital in Belfast and had 11 operations to wash out and drain the E-Coli infection that had caused a septic hip. His hips and legs were immobilised in cast for a few months and he had 7 weeks of intravenous antibiotics into a Broviac line in his chest. Even when home, he continued to have health issues including multiple allergies, but it was only in April 2019, having hoped that we’d come through his worst, that we received the worst news yet. A genetic test showed that his by now noticeable developmental delay could not be put down to the septic hip alone, although that certainly didn’t help. No. Dara had a genetic condition called MECP2 Duplication Syndrome. It means a particular section of his X chromosome is duplicated, and the syndrome is associated with multiple outcomes. As the paediatrician said: don’t Google it. He is facing moderate to severe intellectual disability. Delayed or absent speech. Delayed or absent movement/walking. Susceptibility to serious infection, esp respiratory. And most terrifying of all: the onset of relentless epileptic seizures causing regression of previously learned skills, whether that be walking, or even being able to eat food. That is the cruellest aspect of the diagnosis: the idea that Dara could work so hard to be able to do anything but could then through regression lose ALL of those skills he had worked so hard to achieve. Sadly, half of all MECP2 affected individuals (mostly boys, as it is an X-linked disorder) currently do not make it to even 25 years of age and many make it nowhere near that far. 

I write this on the day of Dara’s second birthday, 02/02/2020. I wish I could celebrate this milestone with only happy tears, rather than sad, but each day brings us closer to the day that he might start getting seizures, with all that brings. 

The future feels like a scary place sometimes.

But there is hope. 

Provisional research shows that this syndrome is reversible in mice. Multiple studies in the US and elsewhere have shone a light on potential pathways for research. Gene therapy to delete the duplicated section. Less permanent treatments to control the worst symptoms and improve quality of life. Extremely able scientists are doing great work as we speak - but they need funding.

This is probably the first time you’ve heard of MECP2 Duplication Syndrome. You’re not alone. It is rare. Public awareness is low. Parents like us are dependent on your kindness and support to help raise vital funds for research that could be life changing - even life saving - for our children. For Dara, it is too late for him to be totally unaffected, but the quality of his life in the future could be transformed by the right treatment, even if the research takes years to achieve that goal. 

I’ve called this page Dara’s Dream because how wonderful would it be if he and his sister Aisling could grow up together and play and dream without a future of multiple hospitalisations, operations and daily seizures? A future where he can learn to communicate with her, where they can chat to each other (and even fight, like siblings do!) A future where they could just be children together. You can help fund the research that could make that possible for Dara and his fellow sufferers. Please help, if you can.