Wednesday, February 16, 2011

Genetic Testing (HD)

If you watch the TV show, “House” you may have heard of Huntington’s Disease.  I randomly turned on an episode of “Scrubs” the other day, and one of their patients was diagnosed with HD.

The Scrubs episode was interesting in that there was a not so subtle message that the son of the diseased woman was an idiot for deciding to not get tested.

There’s no one size fits all answer for the question, “to test, or not to test?”   Each situation is different.  Each disease or potential for disease is different.
Finding out you have a gene that might increase your odds of getting cancer would probably be considered different from discovering that you do have a disease and will become symptomatic.

The psychological impact can be immense. 
There are no easy answers.
There is no cure.

Some people get tested for HD because they’re already living in fear, 
so they might as well find out what the truth is.
Other people decide not to get tested, because they would rather continue in blissful ignorance until/if they start to notice symptoms.

I was in the second group, until recently.  
Since I am already prone to depression, I could easily see myself becoming more depressed and perhaps speed the onset of the disease, 
if I tested positive. 

I’ve now decided I want to know. 
I have also learned there are things I can do which could possibly delay or slow down the progression of symptoms.

It also makes sense that I could start preparing myself emotionally and psychologically now, when I’m stronger . . . 
That it could make things a little easier down the road, 
If I’ve had time to process and prepare. 

The thing to remember is that this is a deeply personal decision.  
Each person needs to determine their own needs, abilities, options, etc.  
No one can, or should, decide this for you.

About fear.  When I first thought (and knew in my gut) that my mom probably had HD, my fear was almost overwhelming.  I walked around in a dark cloud.  I’d watched my Grandpa die from HD, 
and it was not pleasant.

The thing is . . . once the diagnosis was made, I was okay.
Nothing earth shattering happened.  Nothing changed.
Mom was still Mom.

So, I see that one continues to live one day at a time.  Nothing will change, 
no matter what my diagnosis is.  I’ll just have more information.  
And I’ll continue to walk through this life and deal with challenges as they come . . . and there are many for us all, are there not?

The beauty is that there’s been a lot of research since Grandpa had it.  
I saw a quote, “This isn’t your father’s HD”
Things are different now.  We know more.
The suffering might not be as severe. 

I only know that today, I’m okay.
Today, I have what I need.

Tomorrow, I’ll meet with my genetic counselor and learn more.
Then I’ll give up some blood so they can find out what’s happening 
on my 4th chromosome.
In a few weeks I’ll know. 

Someone asked if I’d feel guilty, if I don’t have it. 
I actually had thought about that.  
Why should I be a lucky one, when at least one sibling has it?  
It could be helpful to share this walk with another sibling 
(not that he wishes this upon me). 

All kinds of weird ideas get into your head.
Trust me, I’ll be extremely relieved if it comes out negative.  
(Although, now I’m reading that there’s a grey area, 
where you might have it or not.  Ugh.)
Well, I’ll know more tomorrow.  And more yet in a few weeks.

If you're interested in learning more about HD, here are a couple sites.  
The first does some good explaining, but gets the name of the gene wrong.  
It is the Huntingtin gene (which everyone has, by the way)

 fractal from