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Alfie’s Family

young boy with MECP2 duplication syndrome sitting on couch in his pajamasAlfie’s Family

Alfie’s favorites:

Alfie likes to hold his xylophone sticks and pass them from hand to hand. He absolutely loves being read too, he has also learnt to turn the page over for you. He loves his best buddy ‘mr cow’ and doesn’t go for a car or pram journey without him! One of Alfie’s favourite things to look at is picture frames on walls so visits to art galleries and museums are one of his favourite things to do.

Alfie’s diagnosis:

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 and he also had reflux. A number of investigations took place to ‘rule things out’ but on Wednesday 10th October Alfie was diagnosed with a rare genetic disorder called MECP2 Duplication Syndrome, he was six weeks old at the time.

Alfie’s family wants you to know:

Our journey with MECP2 Duplication Syndromes started with feeling devastated, guilty, sad, in despair, angry and grief for the loss of the little boy we pictured Alfie to be. Everything we imagined our life and son to be changed in one day and our entire world was tipped upside down.

Just over a year on and we still feel some of the things that we did at the start but we are just able to cover it up better and cope but there will always be the sadness that comes with a diagnosis like this.

However Alfred Freeman is a Handsome, Brave, Loving, Calm, Gentle, Resilient, Determined and Happy little boy. Most weeks we cry for my son but that being said we are so proud of him and absolutely determined to do everything that we can for him.

What has really helped us deal with the diagnosis is the hope that one day a treatment will be available for MECP2 Duplication Syndrome.

The last thing I want the world to know is just how hard it is, that never goes away. Sometimes (in fact most of the time) I don’t want to pretend that everything is ok because it isn’t and never will be until there is a cure.