In my family we have a genetic condition called Huntington’s Disease (HD). It’s not something you can catch, HD is inherited from one of your parents, and at birth you have a 50/50 chance of carrying the faulty gene.
Some people with the gene can live years before any symptoms develop. Which was the case with my grandad, who was in his 60’s before he started to show any symptoms. However, this wasn’t the case with his son, my uncle, who’s symptoms came on in his early 30’s, which is more common.
Once we found out that Huntington’s Disease was in the family, my dad and my auntie, told other members of my grandad’s family, who could then make their own decisions about finding out whether or not they carried the HD gene themselves. Not everyone wanted to get tested straight way, or wanted to know at that point in their lives, which is understandable, and some of us were still very young.
My dad and my auntie both got tested for the HD gene, my dad’s result was negative and my auntie’s result was positive. Out of the three of my grandad’s children, two had inherited the HD gene. There is no rhyme or reasoning behind this, they could have all been negative results or all came back with positive ones.
I’m writing this fairly long back ground of my families experience with Huntington’ Disease because I think it is very important to share my knowledge of this devastating genetic disease, that is still unknown or misunderstood by most people.
There is currently no cure for Huntington’s Disease. It is a neurological condition that causes progressive changes in movement, learning, thinking, emotions. Once symptoms begin, you have to learn to live with each stage, adapt your life and take one day at a time.
I have spent a lot of time in recent years raising funds and awareness for various charities and causes, including HD. This means having to rely on other people to help me and get involved. This has not always been easy, as not everyone has been as passionate as me. So, I’ve decided to do something different and be a bit selfish, in a way.
I am very fortunate that I don’t have the HD gene, as my dad doesn’t have it. Therefore I am able to participate in a medical study for HD YAS, which is Huntington’s Disease Young Adult Study. HD YAS is where I will spend two days taking part in a study that includes physical and cognitive tests. This could help them to discover when the onset of the disease arises in young adults before any symptoms appear. Then hopefully they will be able to develop a drug that can stop the disease before it even starts.
I mean how amazing would that be!
To be honest you may not find it as amazing, because you have no one in your family with this disease, or anyone you know. But this is a massive step for HD considering this is pretty new in medical terms.
If you would like to find out more or get involved with the medical study for HD YAS, then do contact them, they’re great to speak to, they give you lots of information about the study and why they are doing it.
I truly believe this will be the best use of my time ever! Having this opportunity makes me feel such compassion and that in the future this disease could be stopped in its tracks and my being a small part of a massively larger picture still blows my mind!
If someone in your family has been recently diagnosed with HD, then I can’t stress enough how important it is to get support from other family members, friends and colleagues. And to have or develop a strong network of support for you and the rest of your family, through this time. It is important those who find they do not have the gene, may also be in need of emotional support.
The Huntington’s Disease Association website is a fantastic resource for information about the disease, symptoms, support and networks available.
I know this is a longer post than I’d usually write, however it’s hard to get all the information across in such few words and I’ve still not even touched the surface. If you’d be interested in my writing more posts on HD and also an update after I’ve gone through the medical study with HD YAS in December, then let me know either via email firstname.lastname@example.org or on Instagram.
Much love x