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( starboy )

Comments made by starboy

Huntington's Disease

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The idea of eradicating HD in "two short" generations" is admirable. I agree that people who know they are at risk for HD should get tested and refrain from propagating the defect. However, one of the key elements of this happy scenario, "knowing" is problematic. The experience in my family illustrates this:
1) The age of the onset of symptoms and the rate of progression of HD varies widely, even within the same family. My father died of congestive heart failure at age 78. He did not reach the end stages of HD. My brother died of starvation at age 63, having lost the ability to swallow and suffering from violent, non-stop muscle spasms. My sister is more like my dad, and is still living at age 72. I know children in other families with advanced HD. So, what people "know" about HD can vary wildly with their experiences. If their only experience is with a relative like my dad, they may have no idea that HD can result in the horrible end experienced by my brother or the patients for whom you provided care.
2) In spite of the fact that HD is about as widespread as cystic fibrosis, it seems to be relatively unknown to people. Including doctors. I'd be willing to bet that HD, especially in it's early or mild stages is often misdiagnosed. A fair amount of time may pass before the family "knows" that the problem is HD. If it also happens to be late onset, like my dad, the children may well be married with children already as I was, and my brother was. One generation missed.
3) Families these days are often fragmented. My brother was married and divorced twice, all before my dad was diagnosed. The children from these marriages did not have much contact with their dad. They lived in distant states. They had even less contact with my dad. They didn't "know". Once I knew my brother had HD, I did my best to inform his children, but for at least one of them it was too late. He had children before he knew about HD. Second generation missed.

So, in my opinion, in the near term we should do what we can to improve the diagnosis of the disease, educate people about the genetic consequences, provide testing and provide affordable health care (including help for the caregivers) to those who test positive. These are things we can do now. Hopefully, one result would be that those carrying the genetic defect would know it and choose to adopt children rather than produce their own.

By the way, a generation is not necessarily short. My dad was in his 60s before being diagnosed. Two generations like that amounts to at least 80 years. So let's also promote research and hope we'll have a cure sooner than that.

May 21, 2010 at 12:59 a.m. ( | suggest removal )

Huntington's Disease

I'm pretty sure that I read your original post. And I think I understand it. Namely that people with a serious genetic defect such as HD should not have children thereby perpetuating the defect. I agree.

My first point is that the way you expressed this point in your original post seemed rather hostile, --though not as hostile as Hitler :). Perhaps I should see it as attempting urgency in a medium that doesn't lend itself to the nuances of the spoken word. I might even agree with that sense of urgency. But I also stand by my point: we don't need to be yelled at, or called names as in your last post. I think there's a better way. More on this below.

My second point is that HD can impoverish a family and though the cost of testing is indeed far less than the cost of raising children, it is still a hurdle for those at risk. And it adds to all the other barriers to getting tested, such as the loss of insurability, no hope of a cure if positive, feelings of guilt if negative (survivors guilt: how come my sister has it and I don't?) and many others.
A collective solution to this part of the problem would be for HDSA to use their funds to pay for genetic testing and provide practical help to families caring for HD loved ones instead of attempting to fund research for a cure. Currently there is a major foundation funding research for a cure whose budget is many times the HDSA budget. So, I think HDSA should focus on helping families directly affected instead.

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May 21, 2010 at 12:58 a.m. ( | suggest removal )

Huntington's Disease

AuntJenny, You assume too much. My father emigrated to the US in the 1920s. He left his native country when he was about 21 and probably did not know about the disease or it implications. I never met any of his family. Most had died before I was born. He was not diagnosed with HD until he was in his 60s. By then, my other siblings and I already had children. For us, the diagnosis came too late to have made any such decision about whether to get tested or to have children.
Furthermore, the test is not cheap. It cost me about $1000. Not everyone can afford that. Families with children who do know that their parent has HD are often under severe economic stress. The treatment for HD is very expensive and perhaps neither parent can work outside the home (victim and caregiver).
So please stop shouting. We don't need it.

May 18, 2010 at 11:19 p.m. ( | suggest removal )