On 30th August our little boy Alfie was born early weighing just 4lb. Following a stay in hospital he didn't gain much weight at home so a number of investigations took place. On Wednesday 10th October Alfie was diagnosed with a rare genetic disorder called MECP2 Duplication Syndrome.
MECP2 Duplication Syndrome was discovered in 2005. It is a progressive neurological disorder, usually only affecting males. Common features include inability to talk, infantile hypotonia (low muscle tone), global developmental delay, intellectual impairment and/or autistic traits, recurrent deadly respiratory infections, and epilepsy. Sadly 50% of sufferers do not live beyond 25 years of age.
Nothing prepares you for news like that, our world fell apart around
us and everything we had hoped for our son and our family changed forever. Alfie’s life is already full of hospital stays, feeding tubes and the risk of life-threatening illness and we don’t know if he will ever be able to do everyday things like walk or feed himself. However, recently some amazing research has been taken place in Houston where Dr. Huda Zoghbi and her team have shown that the condition is reversible! The next stage of the research is clinical trials but this does require funding. We have found group of likeminded parents, families and friends working hard to raise money and support the research which could cure this awful condition.
On our own we can’t help Alfie develop beyond the constraints
MECP2 duplication but we can support the research that could unlock him and the other children from this awful condition through fundraising. We do believe there will be a day when we hear our son call us Mummy or Daddy and we can watch him running to the park to have fun and make friends.
Thank you for your support and for any donation that helps Alfie
and the other children suffering from MECP2 duplication.
