Max Hyles

The Manilla seven-year-old suffers from the rare genetic condition Shwachman-Diamond syndrome (SDS).

Transcript

00:00When Max was about three months old, we noticed that he wasn't gaining a lot of weight, but

00:07it wasn't until he was between five and six months that we got his diagnosis.

00:11They told us that he had a condition called Swachmann-Diamond syndrome that was really

00:17rare and his specialist had only looked after one other child with this condition, so it

00:24was quite scary I suppose that they didn't know a lot about it.

00:28But that definitely scared us at the start.

00:32When I started doing my own research about Swachmann-Diamond syndrome, I read that a

00:36lot of the children can go on to have leukemia and aplastic anemia and really scary bone

00:42marrow complications, which was very frightening as a parent, like you don't want to read that

00:49your child has a significant chance of developing leukemia.

00:54It was very overwhelming.

00:57We felt scared.

00:58We didn't know what was going on.

01:01I never get used to the emergencies.

01:03You never know what's going to happen, nor, you know, sometimes he might just have a cold

01:08and get a temperature and we follow our protocol, but, you know, you always worry that it could

01:14be something more serious and, you know, he could get sepsis and this could be it.

01:18You just don't know.

01:20To be honest, the doctors, they don't give you a lifespan because it's a condition where,

01:25you know, it's so different for every child, but I know from my own research and Facebook

01:30group that as they get older, the risks definitely increase.

01:35I think that people should support Genes for Genes because I believe that every child should

01:39have the opportunity to be who they want to be and who they're supposed to be and not

01:44have their medical condition, you know, tie them down or not let them do what they want

01:50to do and I just think it's so important because there are so many kids out there with all

01:55sorts of genetic conditions.