Last week I wrote a post about a potential new drug treatment for Huntington’s Disease (HD). HD is a devastating disease that slowly robs you of your body and mind over the course of about a decade. It generally starts when you’re in your forties but extreme cases can begin in childhood, if you’re lucky it won’t kick in until you’re in your sixties or seventies. There is currently no cure and nothing you can do to slow it down, if you carry the mutation (an overlong string of glutamine amino acids) then you will go on to manifest the disease – unless something else gets you first.
HD is a little unusual in the pantheon of neurodegenerative diseases, however, because we know the precise genetic cause of the disease we are able to offer a clearcut, easily performed, fairly cheap test for it. If you start to have shaky limbs and some behavioural or personality changes then we can test you for HD to see if that’s what’s causing it. Unfortunately, HD is inherited in an autosomal dominant manner and this means that if you do carry the mutation then you have a 50% chance of passing it on to each of your children.
We can take things a step further, though; if one of your parents was diagnosed with HD then we would be able to perform the test in a predictive manner. We could tell you whether you inherited the mutation from your parent and whether or not you would go on to develop it yourself. We couldn’t say when it would happen or how long it would take but we could give a clear yes or no as to if you will go on to eventually die from Huntington’s Disease.
So this brings us to the question in the title of this post: what would you do? If one of your parents had HD would you want to know if you will go the same way? Would you want to live on in blissful ignorance, not letting it change the way you live your life? But maybe you would start to worry every time you accidentally dropped your keys? Or would you have to find out and plan out what may be a curtailed life accordingly?
But let’s take the dilemma to another, more complex level. Let’s say you do have the HD mutation, you are going to die a horrible death. But not yet, you’re still fairly young, in your twenties, yet to start a family. You know that you have a 50% chance of passing it on to any children you might have. There is a test that can be done on your unborn foetus that will tell you whether or not they will share your fate. The test is done at about 11-12 weeks gestation, it involves a rather large needle and a small risk to mother and baby but it gives you the option of terminating the pregnancy if it is positive. You have the ability to rid your family of the scourge of HD. You can start a family knowing that they will be free to grow old and die of something else altogether; but, you may have to have one or two abortions along the way, a deeply traumatic experience for all involved. Perhaps, though, you will never have a negative pregnancy and four abortions later you’re emotionally drained and can’t stand the prospect of going through the process again.
These are the types of horrific decisions that families up and down the land are having to make every week and the kind of suffering that any new drug treatment might help us avoid altogether. These are the sorts of decisions that can tear families apart. Could you and your partner survive a string of abortions? What if your brother and sister tested positive and you came back negative? Could you live with the survivors guilt?
In the mid nineties when we discovered the mutation that causes HD we, in the scientific community, naively thought that we would be able to eradicate HD from the world. There was a clear cause with a clear way of making sure that no one had to pass it on to their children. But this is not what has happened. Plenty of people don’t want to know. They’re willing to take their chances. Some, of course, do take up the chance that modern medicine offers them but we have not come anywhere close to removing this black mark from our genome. I am in no way trying to imply that one decision or the other is the ‘correct’ one. There is no correct answer here, it is totally personal and totally subjective. Either option is, frankly, a very difficult one and one I hope I never have to make.
It does, though, beg the question: what would you do?