Twinkle is a SWAN, she has a ‘Syndrome Without A Name’.
Despite having had all the tests the NHS is able to offer, we still don’t know the reason for her neurological condition. She has been entered into detailed academic study called Deciphering Developmental Disorders (DDD) by her geneticist. This is a very long process as each variation in the DNA is studied (we submitted our samples 18 months ago and still no news!)!
SWAN UK (the fantastic family support charity we are members of) were recently contacted to see if a family local to Cambridge, and on the DDD study, would participate in an interview about their situation. We were interviewed by BBC Radio Cambridgeshire and BBC Look East a few weeks ago! The TV clip now on the BBC website (view here) includes a little clip of us and of another family, as the background for exciting developments in diagnosis for rare disorders coming out of the DDD study. Congenica, based in Cambridge, are developing new software which will allow a much more detailed and efficient diagnostic test to be offered than is currently available. This could be huge for families like ours!