HI I just joined the forum. My son has a very rare syndrome called Xia Gibbs. There are only 200 patients around the world so far diagnosed. We have a facebook community, but sometimes I need help with navigating the care system in the UK and there are only about 10 families in the UK with my sons condition. His syndrome was only discovered by geneticists in the US in 2014. The community is slowly growing as more children are being diagnosed through genome sequencing. A lot of them have had had diagnoses of Autism and/or ADHD. The symptoms are sleep disturbances, learning difficulties and spine problems. We are all still learning about the syndrome and there is a team of geneticists working on the gene to understand more about the syndrome. Most of the patients are children, but we found one adult in the US in his 50s. the scientists are not sure about the prognosis with age, because theyve only found this one middle aged adult. 2 children have died so far, but they think there could still be other adults out there living with the syndrome, its just that gene testing isnt done very often with adults with learning difficulties. My son is 11 years old and is non verbal. He has mental capacity of 18 months.
Hi Lucy
but sometimes I need help with navigating the care system in the UK
What help do you need? Can you expand.