SWAN UK

Diagnosing illnesses isn't always easy especially when it comes to rare diseases.  Helen Piper is the mother of 4 year old Alex, who has an undiagnosed development disorder. She told us how difficult it has been, living without a diagnosis, and how SWAN (Syndromes Without A Name) has helped their family... 

Helen -   We first noticed something wasn't quite right quite early on- probably about 8 to 10 weeks.  He wasn't focusing on people.  He didn't make eye contact.  He wasn't smiling.  He was very floppy on his neck.  Our first doctor was no help at all.  She literally took one look at him and went, "Well, he's probably got Asperger's but that's okay.  Here's a leaflet." and off I went out the door and I cried so much because you just think, well, this is not very supportive and I'm not at all sure that's right.  So, I took him back again.  I saw a different GP who again, almost took one look at him and went, "No, that's neurological."  And so, off we ran on a series of various trips too and we started off with a paediatrician.  We've seen neurologists, we've had genetics involved, all to try and work out what's going on, and nobody has been able to give us an answer.  It was extremely isolating because there are no pathways that are, I suppose, obvious for you when you don't have a diagnosis.  If you have a label for your child, there are at least obvious pathways to travel in terms of support groups, in terms of input from social services.  We were quite lucky in that, on one of our visits to Great Ormond Street, I cried over them and said, "There must be a support group somewhere."  They said, "Have you heard of SWAN?"  SWAN stands for a Syndromes Without A Name, and it's an amazing charity that supports all the parents of children who have no diagnosis.  We call our children SWANs because it's quite a nice graceful name for these beautiful children of ours.