Hallo! We are the Daveys – Richard and Alex (me), our two feisty daughters Jackie (seven) and Caitlin (three) and our SWAN, Benjamin, who is five.
Benjamin (Benji) is a very content, loving little boy. He loves watching lights and shadows, such as sitting under a tree watching the leaves move against the sky. He also enjoys the feeling of air on his face and he loves riding in the car with the window open, or with rain pattering on the roof. He likes music, particularly bells and jingly-sort of noises. He loves water: swimming, hydrotherapy, bath-time. Oh, and he is a total flirt, with a smile that would charm the pants off anyone.
Benji has been a SWAN (syndrome without a name) child from three weeks before his birth, when anomalies in his brain were detected.
Within the space of 24 hours we went from an uncomplicated pregnancy to MRI scans, consultants, and palliative care plans, and we were offered the option to terminate the pregnancy. I realised then that life was going to be very different for our whole family, whatever we decided to do.
Benji is now five and doing great! He has microlissencephaly which means his brain is very small and very smooth, which creates several challenges for Benji. His motor control is limited and he has severe reflux (his stomach contents come the wrong way out of his stomach and up towards his mouth) and an unsafe swallow, so any liquid that is in his mouth tends to go into his lungs and cause chest infections. Benji is epileptic and visually impaired. He is on more than a dozen different medications and has twice-daily chest physio and nebulisers to keep his chest clear. He is also unable to regulate his own temperature, meaning he really struggles in hot and cold weather; similarly he cannot control his sleep cycles and tends to follow a different sleep pattern from the rest of the family.
Benji is non-verbal and we have really struggled to find ways to communicate with and understand him. Although he cannot yet use his hands to work a switch, he has worked so hard at his head and trunk control and now has the ability to turn his head to either side to switch a switch with his cheek. This means he can now make a choice between two options, and we can work on this to develop a more complex, step-by-step communication method. This is totally awesome news and represents a huge amount of effort on the part of Benji, his teachers, support workers and Occupational Therapists.
To try and find the genetic cause of his disabilities, Benji is on the DDD (Deciphering Developmental Disorders) project and the Scottish Genomes Project (the Scottish arm of the 100,000 Genome Project). Our main reason for undergoing testing was to find out the risks of any future children having the same condition as Benji. However, the results took too long for us and we went ahead and had his little sister anyway! Because we had no diagnosis, this pregnancy was an incredibly stressful time for us. I really hope that we will find out that Benji has a de novo genetic change, and therefore his sisters will not be carriers of any ‘faulty’ genes and won’t have to worry about their own children inheriting the same condition.
A diagnosis would also help us to plan for the future: being undiagnosed, we don’t know what Benji’s long-term prognosis might be. We don’t know whether to spend our time and energy planning for the long-term (trust funds, guardianship, care plans, and so on) or to use that time making memories in case we don’t have very long with our son.
A diagnosis would make it so much easier to explain Benji’s condition to people. It would make it easier to fill in forms, and easier to get funding from organisations that need a “diagnosis” box filled in before they will even look at your application. A diagnosis would mean the chance to find other people with the same condition as Benji, learn from them, share our stories, and feel less alone in the world.
Finding SWAN UK
Fortunately, about a year after Benji was born we discovered SWAN UK. Those early days were a complete blur of caring for Benji 24-7 whilst also looking after his big sister who was only one year old when he was born. I remember feeling completely alone and ill-equipped as we struggled to make life-changing medical decisions with no-one to turn to for advice or friendship.
Now, the SWAN UK family provides us with support, understanding, answers to stupid questions, advice on serious questions, offers of help when stuck, a place to offload equipment we no longer need and emotions we can’t hold in, family days out, new local friends, a feeling of belonging, … oh, and balloons! Benji loves the balloons!
When Benji was first born I was scared, confused, and angry that I had been thrown into all these new roles of doctor, nurse, carer, teacher, advocate, without any training whatsoever. I felt very guilty about the impact having a disabled child would have on our family, especially our daughter Jackie. I didn’t know how to even explain Benji’s condition or what was happening to us. I felt very alone. Now, I feel I have grown into all those roles and relish them! I feel capable of fighting for whatever Benji needs, and able to help and advise others in similar situations. I relish the changes he has brought to our lives, and I am immensely grateful for what he has taught me. I have made new friends and have a new, more inclusive outlook on life. I can’t imagine life without Benji.
I know that my future will never be the same as I will continue to campaign, advocate, and work in my community to make it more accessible and inclusive for everyone. If we lose Benji, there will be an enormous hole in our lives, but I’m so glad we had the privilege to know and love him and to join the SWAN UK family. Learning from other parents and from disabled people has been the best thing about the journey and has totally changed my outlook on life.
SWAN UK is my tribe. It’s my friends and family, and it’s where we belong.
We look out for each other and help each other both virtually and physically. Although we came into SWAN UK through my son’s lack of a diagnosis, I know that even if we get a diagnosis, we’ll always be a part of SWAN UK.
Would you like to share your SWAN UK story and help raise awareness of undiagnosed genetic conditions? Email: [email protected].