Our son is 1 of 47 in the world that we know of with the rare diagnosis of CHAMP1 gene mutation. He is non verbal but this doesn't stop him from telling us what he needs. He is the most loving boy you'll ever meet. We waited seven years to finally receive his diagnosis. We are now doing all we can to raise awareness of our rare community.
We are the only Scottish family and 1 of 4 CHAMPS in the UK.
If you'd like to know more about CHAMP1 you can visit our website www.champ1gene.com
You can also visit our Research Foundation www.champ1foundation.org