Mark's story

Hello! My name is Mark, I live in South East London with my girlfriend and my dog, Lenny. I am 30 years old and about a year ago I was diagnosed with having the defective Huntington’s gene.

My Dad was diagnosed with Huntington’s disease 11 years ago but, like so many people with HD, he was unaware that the disease existed in our family until his symptoms started. I was 18 when our family found out this news, and it made sense not just of what was happening to my Dad, but of what his Dad (my Granddad) had suffered with in silence many years before.

Diagnosis and testing

When my Dad was diagnosed, I was immediately given the choice to find out whether I also carried the defective Huntington’s gene, but at the time I decided to just get on with life and let the future sort itself out. Over time, though, worry and paranoia really began to get to me. The combination of watching my Dad decline and wanting to start my own family - and eradicate the disease from the family line through the IVF process - pushed me to finally go and have the test, aged 29.

It obviously wasn’t the news any of us wanted, but there is a real strength to be had from knowing the result. It was obviously gutting to have my fears confirmed but I at least know what I am up against and I know that it’s unlikely I’ll experience symptoms earlier than my Dad did due to having a similar CAG count. (A CAG count, for those that don’t know, sort of acts as a loose marker for predicting the severity and potential age of symptom onset, but of course every case can be different.)

Helping myself and others

Now I am determined to not only help myself, but also help others. You can either run away and hide or you can stand up and fight. I want to become the hero of my HD story!

Yes, it is hard - and some days are much harder than others - but there are many positive noises coming from the Huntington’s experts about new research and treatments and that fills me with real hope. Have a look into gene silencing, it’s like something out of a science fiction movie, but it could be ground breaking!

In the meantime, what can I actually do now? For starters, I can help my Mum and Dad, by making sure their daily life battling with Huntington’s is as comfortable as possible and ensuring they are getting the support they need. That is where the HDA comes in. It is such a relief to know we are not alone after all.

Help from the HDA

The HDA are always on hand to help with anything any of my family need. Their Specialist HD Advisers have heard it all before, numerous times, so no question is too silly.

It was my Mum who first got in touch with the HDA. She wanted to join the local support group and it was that which gave my parents the reassurance they needed, to know that they were not alone. None of us are. No matter how dark and alone you feel, sharing your problems with somebody who is going through a similar thing can really help. It has been invaluable to us.