Hi, I’m Aimee and I live in Warwickshire with my husband Ollie and our three children, Freddie our swan who is five, Bella, four and Jago, two, plus our Jack Russell, Teddington.
Freddie’s neuro-developmental problems were first picked up at my 20 week scan during pregnancy. I had lost my beloved father to cancer the year before and was in a pretty delicate state so this was a huge blow to us as a couple. The pregnancy we had hoped for to bring joy and a new life to our family was turned upside down. We attended scans at Birmingham Women’s Hospital every two weeks for the rest of my pregnancy and had numerous other tests including a Microarray and amniocentesis, which was pretty horrific.
The professionals could only tell us what it wasn’t and not what it was that was causing his brain not to develop correctly.
He has enlarged ventricles, microcephaly, small cerebellum, reduced white matter, reduced sulci and gyration and a thin corpus callosum. Freddie also suffered an ischemic insult to the brain, like a stroke. He also had issues with his heart and liver but these rectified themselves before birth.
My husband and I were emotional wrecks to say the least. We did see a paediatric neurologist at Birmingham Children’s Hospital during my pregnancy to look at the MRI results but he could only tell us that our baby would have some developmental difficulties. Other than that there was no support in place for us.
On a number of occasions we were offered the chance to go to panel to terminate the pregnancy up to 40 weeks. Freddie was born at 35 weeks.
The early days were a blur for us but we were just so relieved he had arrived safely and was home after a week in the Special Care Baby Unit. All we had contact wise was a local paediatrician (who was decidedly disinterested) and numerous health visitors who unfortunately didn’t take the time to read our notes or get to know our family.
There was no support or guidance or early intervention from the professionals. We were simply told to go home and wait and see. We were very isolated and fearful.
Fortunately we have amazing support and love from family and friends. We also moved area when Freddie was about nine months old and met a fantastic health visitor who has helped us immensely.
In the summer of 2013, my Mum called to say she had been online again researching, as we did ALL the time, looking for answers and help and she had come across SWAN UK.
I had been looking for so long for anyone that understood. I couldn’t believe there was a whole network of people who ‘got it’. All our ‘swans’ are different and so are our situations but the one thing that brings us all together is the lack of diagnosis.
I love that there is always someone online to talk to no matter what time of day, people to offer help and advice on any given topic and many friends to share your fears, highs and lows. SWAN UK also organises meet ups and helps us in other ways with information.
Freddie is delayed in all areas of development, he also has low muscle tone, severe speech and communication difficulties including developmental verbal dyspraxia and an eye condition called Hypoplastic Optic Disc, slow processing, tummy issues and a complete lack of danger awareness. Although at times his behaviour can be a challenge, mainly down to frustration I think, Freddie is a very funny, cheeky, loving and happy little boy. We all adore him and he loves his little brother and sister. He loves cars, trains and balls. Anything electronic and anything with a switch. He is sociable and friendly.
He has in fact become a graduate swan as we were given a diagnosis via the DDD (Deciphering Developmental Disorders) Study. One single gene, found only in him, is faulty: TUBA1A.
There are only a handful of other children known to have this diagnosis in the UK so it is still extremely rare and we remain where we are happy, with SWAN UK.
The diagnosis hasn’t really changed anything for us. We still don’t have a prognosis of any kind or any more insight. The one thing it has provided though is some peace of mind; I blamed myself for a very long time.
Being part of SWAN UK and receiving all the support has really changed my life. It sounds dramatic but it’s true. I was lost and alone before.
It made such an impact that I decided to take on the role of Parent Representative. I really want to encourage families to come together locally for support. My biggest objective in this role is to educate the professionals and services out there in our local community about SWAN UK, the support it offers and what it is like to live without a diagnosis.
I so wish someone had told me about SWAN UK, just a leaflet or a website would have been good. If someone had been there to signpost me to support rather than just sending us home to wait and see, the early days could have been so different. It’s also really key that all children and their families receive early intervention regardless of diagnosis to help them achieve their full potential so education is key.
I would urge everyone living without a diagnosis to join SWAN UK.