Wednesday, January 4, 2012

It is all in the genes...

Genes. They are what gives my baby girl her big blue eyes and sparkling smile. They are what I blame for her strong will and undeniable curiosity. They are what I hope will give her then benefit of growing a few inches taller than her mommy and what I will deny when she probably does not.

Genes have an amazing way of linking people and give us the ability to recognize relatives that we may have never even met before. Genes are responsible for our looks, our personalities, our mannerisms, our faults, our blessings and everything that we are or will be...to some degree.

Genes. We are thankful for many and curse others.

I should be somewhat of an expert in genes. I am surrounded by the effects of genes in my everyday personal life as well as my professional life.

I am constantly telling my husband that the faces he makes, tone of voice and looks that he gives remind me of his dad. Thank you genes. I look at my beautiful daughter and can't help but think back to myself at her age. Even my childhood pictures cannot deny the genetic influence of her looks. Those are some good genes, if I say so myself!

At work, we are constantly asking about family history and the genetic aspects that may affect our patients health. I am surrounded by the concept!

Though surrounded, I think that I often minimize the importance.

Today was a day of remembering and a day of realization that our genes are undeniable and unstoppable.

I spent the day surrounded by family that I have only learned about and gotten to know since I moved to Indiana. Before, they were faceless names and distant people that I had heard about or met once or twice. Now they are more real. Now I can put faces with their names. I can trace their family trees and (with some help and reminders) can link who belongs to who and know some of the trials and tribulations that they have been through. I can see where we get our "giant eyes" and see other little traits that I have spent my lifetime trying to figure out who they came from. I can look around the room and see reflections of the only biological uncle that I grew up with. In fact, as I looked around the room, I saw about 20 versions of my Uncle Don in various stages of his life. In pictures, I saw my grandma as a child and felt like I was looking at my Auntie rather than my Grams. In fact, I even saw my cousin Stephanie in the pictures. Not actually Stephanie, but the genetic representations and influences that have made Stephanie look like Stephanie. I overheard others exclaim how much "my son looks like Uncle So and So". There was even playful bickering about who "that picture" really was. The genetic influence was so strong that there was no doubt....we are all related.

There was another genetic trait in the room that was undeniable. "The family disease".

For many years it was unspeakable and still causes discomfort for many of my family members to even mention. What once was blamed on a spider bite has now been given a name, Rapid Onset Dystonia Parkinsonism.

Today my family all gathered to pay tribute to the life of Elcer "Bud" Pursifull, my great uncle and one of only two of my grandma's surviving siblings. All together there were 10 children in my grandma's family and although I am not positive, I believe that of the 10, at least 6 of them have had RODP. My poor grams has lost 5 of her siblings in under two years and she is one of the 6 I mentioned before.

RODP is a cruel genetic joke, like so many of the other genetic diseases out there. There is no rhyme or reason. There is no planning. There is no warning. There is no understanding. There is only acceptance, for which is difficult, if not impossible for many. One day fine, the next day not so much. In some cases, one minute fine, the next not.

Uncle Bud had 14 children, 59 grandchildren and 105 great-grandchildren, though after the service it was discussed that a few may have been left out of those numbers. He was 85. I don't know when he was diagnosed or how quickly his disease progressed. What I know is that his mind was sound and there doesn't seem to be a picture where he wasn't smiling. When I "met" him last year at another family funeral he walked right up to me and said "I remember you from California". I would have been in diapers still, but he remembered me. An incredible memory. His body may have been "flawed", for lack of better term, but his mind was sound.

That is one of the many cruelties of the disease. It robs the body of the ability to work properly but leaves the mind to allow one to know of the loss. I suppose that is a blessing in many ways, as well. The gift of being able to experience so much. 85 years. WOW!

Looking around the room there some subtle signs of the genetic presence and others that were not so subtle. There were some who I saw last year who appeared healthy and this year need the assistance of a cane to walk. There are others who required wheelchairs to attend the service and some who outsiders would be unable to see the slight inward turn of the wrist or hear the faint pause in their speech. Some were only able to communicate with a slight hand gesture and others that you would never guess were affected. Even my grandma has barely discernible symptoms. She knows and we know, but the outside person would never guess. Stress and emotions only draw out symptoms. This, too, was evident today as one family member walked in to the service along with the majority of the rest of us, but had to be physically carried out when the emotions seemingly "turned on" the disease.

As I scanned the room, it was hard not to think about who would be next to "win" this backwards family lottery. It was hard not to wonder who else was secretly battling with this crippling disease. It was also nearly impossible for me to not think of the hope. With so much tragedy and pain, there is also so much room for hope.

Already in MY lifetime, the gene has been isolated. Sweet ATP1A3. It may not mean much to others, but for us, it has been found.

Many of us have been participants in genetic studies for the disease and have given medical information and blood samples. In return we were all given a pedigree number! Oh joy! One of the only humors I have found in this over the years!

For years, the testing was for research purposes only. The researchers knew some degree of our fate, but we were not privy to this information. A few years back they gave the option of being retested for our own informational purposes.

This left a few options. To be or not to be.....tested, that is.

It wouldn't give an answer to whether or not we would get sick, only if we were carrying the possibility of it. Initially I was ecstatic. I contacted them immediately and asked for my testing kit. By the time the kit arrived, I had put enough thought into it to realize I didn't want to know.

What I do know is that I still have hope. If they can find a gene in one lifetime, they can find a cure. As I said before, there is no rhyme or reason, only acceptance.

I have accepted that I am a member of a very exclusive club of amazing people.

People who have overcome a disease that little is known about.

People who have thrived and flourished.

People who live their lives with smiles and tears, just like the rest of the world.

People who have strengths and weakness and who have to make adjustments in their everyday life.

People who would rather not deal with this genetic link, but have embraced life.

People who are lucky enough to be a part of something big...part of change, part of growth and part of giving hope to others with RODP.

People who live to 85 years of age, have 14 kids, 59 grand kids and 105 great-grand kids.....give or take a few.

Those are some genes that I am thankful for and look forward to sharing in, after all.... It is all in the genes.




1 comment:

  1. WOW! Very well written (as usual), and you're right it is all in the genes. I know we've yet to meet in person, but I've known for years now that you've got great genes. It comes across in everything you say & do.

    I'm like you, if I had something like that, I don't think I'd want to know. Just live my life the way I would have not knowing & be thankful for each & every healthy day.

    Sorry for your family's loss, but what a tribute & way to be remembered. Good job!

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