Huntington's disease - why do I need to think about it?
Another Monday, another awareness week. It's easy for us to get awareness fatigue when we're bombarded with campaigns. The trouble is, there are so many conditions which wreck lives, and all of them are worthy. They may not affect as many people as the ones which make the headlines - breast cancer,type 2 diabetes or heart attack, say - but if they cause major health problems they can cause a knock-on effect for family, friends and society.
Inherited diseases can bring an extra heartache. As a parent, you live with the knowledge that you may have passed on a disease to your beloved children. I've had patients eaten up with guilt - one told me she felt she had 'sentenced my child to a lifetime of illness'. They know it's not logical, but emotions don't take much account of logic. Children of affected parents have a double whammy too. Not only do you have to watch your loved one suffer, you're constantly aware that in a few years' time, that might be you.
Last year, Angelina Jolie made the brave decision to speak out about her decision to have a double mastectomy after she discovered she carried a faulty BRCA gene, which hugely increased her risk of breast cancer. Eastenders built on this story earlier this year when Carol Jackson was diagnosed with breast cancer. Viewers across the country were on tenterhooks to see how she coped with the news that she had inherited a faulty BRCA gene. She needed to share the news with her daughters that they, too, might be carrying a time bomb.
Huntington's disease is another inherited disease. It's an autosomal dominant condition - that means you only have to inherit one faulty gene from one of your parents to get it. Parents who carry the faulty gene have a 50:50 chance of passing it on to any child they have. If you're diagnosed as carrying the Huntington's gene before you have children, you can opt for IVF in which only an embryo without the gene would be implanted.
You'd expect that if nobody can carry this gene without getting symptoms, everyone would know if it ran in their family. However, about one in 30 people who get Huntington's don't have a family history - they get the faulty Huntington's gene because of a mutation. They're usually diagnosed in their 30s or 40s, when they already have children. That means it's too late to have counselling about whether they should take the risk of having an affected child. Instead, they have to break the news to the kids they do have that they have a 50:50 chance of developing the same illness in time.
Huntington's disease affects your movement, causing uncontrollable jerking of your limbs or head; your speech and swallowing, causing problems with choking; your memory and reasoning; and possibly your behaviour. On the whole, people with Huntington's disease die 10-25 years after they first get symptoms, most often from infections such as pneumonia.
While there are medicines to help with the involuntary movements, equally important is the involvement of a specialist healthcare team. This could include speech and language therapists to help with swallowing as well as speech; occupational therapists to help with home adaptations; a physiotherapist to teach exercises for muscle strength and balance; a neurologist and a psychiatrist. Obviously a genetic counsellor is also an invaluable member of the team.
There isn't a cure, but that doesn't mean we should bury our heads in the sand. In fact, it makes fundraising all the more important. This is a condition which could affect someone just like you.