I was on the microscope on Tuesday this week listening to past episodes of the Health Report, a radio program from Radio Natioinal about health related issues, and came across two episides from late January this year discussing Huntington’s disease.

• Part 1 (10th Jan 2011)
• Part 2 (17th Jan 2011)

My research area is Parkinson’s disease so I am quite interested in all neurodegenerative diseases. Unlike Parkinson’s disease however Huntington’s disease is an entirely genetic neurodegenerative disease. As a neurodegenerative disease researcher I have always been a little bit envious of people studying the genetic conditions since while we have no idea what causes the sporadic forms of various diseases, we often know very specifically what mutation causes the genetic forms of neurodegenerative diseases and since they are genetic we already have a very effective cure available to us.

I mention this because in these radio programs and similar sorts of documentaries there are often interviews with a series of people, both people with the disease and also carers of people with the disease, generally family members. In these particular programs above they describe how Huntington’s disease is so debilitating not only because it results in uncontrolable muscle movements and cognitive decline, but also because it occurs over 10-20 years or so, meaning that family members must care for their affected relatives for a decade or more.

One woman’s mother in these radio programs was in late stage and the program described how her father had been looking after her for years, outlining in particular how hard this is when the person’s mind goes and they become less and less like the person you once knew. This woman who they also featured in her own right was not yet affected by the disease but spoke of how she and her husband wanted to have children and the woman was going to get tested to see if she had inherited the Huntington’s mutation but accidently became pregnant before they got around to it. At the time the tests could only tell if there was a 50% chance that the child would have the mutation which was not a great enough probability for them as parents to act upon if they got a positive result, so they didn’t go through with the test. After the birth the woman was tested and found that she did have the mutation (so there is a 50% chance that her 1st son will have the mutation). For their second child then they went through pre-implantation screening using IVF and implanted an unaffected embryo so they know that their second son is free of the disease.

The program also talked about how this woman’s husband is committed to staying with her even knowing of what will happen in the future (there is no way of stopping this disease and it is 100% fatal).

There was also another woman on the second part of the program who was one of 4 siblings. Her three other siblings all had the mutation but she did not. One of her brothers I think it was, was already dead and the symptoms had started in the other two. This unaffected sister therefore looks after the children of her affected siblings as needed.

So the disease causes no end of suffering and hardship for the affected families and through out the program which runs for an hour in total over the two parts, the patients, the carers, the specialists all continually say how they looked forward to the day that there was a cure for the disease. And that’s the bit that confuses me, as I say, we already have one. Huntington’s disease is a genetic disease. Just don’t have affected children and the disease will be eradicated completely. People with the disease can still have children mind you since they can use pre-implantation diagnosis and only implant non-affected embryos. We are capable of quite easily detecting the specific mutation these days. Admitantly we couldn’t always do this, so there will certainly be a number of people carrying the mutation currently, but if we do not produce any more children with this condition then the mutation and the disease it gives rise to will be a thing of the past like Small Pox.

So I don’t quite get what all the fuss is about in the search for a cure for Huntington’s disease. Or perhaps I am missing something…