Hi I’m Amanda, a single mum to three boys and I live in Bournemouth, Dorset. My boys are Louie fifteen, Oscar thirteen and Harry ten. My younger two are both swans and have a number of various diagnoses but no explanation or over all diagnosis for their issues.
Both have duplication of chromosome 8q13.2; this is from me and associated with brain development. My swans also have duplication of chromosome 3p26.3, some physical developmental issues, connective tissue disorder, joint hypermobility syndrome, bowel issues and sleep disorder. Harry also has motor tics and Oscar is selective mute. They attend mainstream school and Oscar has a full-time one-to-one. At times they are unable to move or walk because of their joints and connective tissues disorder. This can cause pain and swelling and at times Oscar needs a wheelchair.
I have tried many support groups as each diagnosis was made and I never felt as if I fitted into any of these groups. I was told about SWAN UK and how they support families of children that have undiagnosed genetic conditions and immediately I knew I had found the place for me. They support families of children with such a range of conditions from moderate to severely complex medical and learning difficulties.
None of our children are the same, however, we all understand each other and are on the same journey so I no longer feel alone and isolated.
My hope going forward is that I can provide a local support network. I will be setting up some regular stay and plays and coffee meet ups to bring families together, and eventually some family days out. I will also be promoting SWAN UK through local groups and information days to find more families who need support.
I am keen to identify local medical professionals to connect with and educate them about SWAN UK, undiagnosed genetic conditions, and the impact on families. I’m really looking forward to meeting and getting to know more SWAN UK families too.