I knew on the day Freddie was born that he had a syndrome . As soon as I held him I knew something wasn’t quite right. He was very squashed and his ears looked a little unusual. I remember exchanging worried looks with his dad and we both went on to question the midwife , but we were assured he was just fine. He just needed to uncurl abit she told us. A few hours later our fears were confirmed and we were told that Freddie was showing alot of indicators of having a syndrome, although they weren’t quite sure what type. He was whisked off to the special care baby unit and this was where our journey into the world of genetics began.
Since that day Freddie has seen 3 different geneticists, each of them have prodded, poked and photographed Freddie. Making note of every unusual feature he has. Every appointment I have gone into with hope that this will be the day we get a diagnosis, I have hoped to leave armed with leaflets and information to help me understand what to expect from Freddie’s future but I’ve always left disappointed and with no answers.
There are so many reasons why a diagnosis is incredibly important to Freddie and our family and I wrote a blog post a while back about why a diagnosis is important to us. Without a diagnosis the future is a very scary place as we don’t know what to expect from Freddie, will he ever walk, learn to feed himself or go on a toilet? Will he reach his teenage years and live interdependently? There’s a worry he may possibly go on to develop scoliosis and thoracic Kyphosis and there’s a risk his epilepsy could worsen and develop new types.
But I know that we may never get a diagnosis for Freddie and now he is a bit older I have learnt to except this alot more. I’ve stopped googling his symptoms trying to find out what he has and have turned my attentions to just embracing Freddie.
And here he is with lots of his achievements –
Learning to operate a switch toy
Learning to feed
Tomorrow is undiagnosed childrens awareness day! Join us in celebrating children like Freddie by wearing pink or blue.