Wednesday, January 8, 2014

Mini Mutants and the Future of Mutant X

I remember sitting in the clinic during one of Lily's chemos when the oncologist came in with my kids' genetic test results.  I always operated under the assumption that they were positive- but it is a very complicated issue.

I'm sorry but they all are positive for the mutation.

We knew Lily was(despite prelim tests saying otherwise- ALL tests can be wrong) because we were sitting there in pediatric oncology. I knew it in the core of my being. I knew it when I saw the lump on her leg and that first stupid little prepubertal sign.

I was really really hoping for at least one to not have it.

And this is the point it gets tricky.  Of Course I didn't want my children to have it, but in my mind- it didn't really affect their individual risk or how we faced the journey together.  Scientifically- I know this is not a supported argument. But how I feel cannot be contained by a library of scientific documents. I would never ever choose this FOR my children, but without it- we all cease to be. Until there is a treatment, the only prevention is to select against the being. Genetic tests are a complicated affair. Complicated emotionally, complicated scientifically- overall one big complicated conundrum wrapped in an enigma served with a side of quandary.

I knew I had the mutation. When I was 18, my parents asked me if I wanted to be tested- I said no thanks. Even at the age of 18- my gut instinct reflected the complex nature of genetic labeling despite the fact that I did not stop to consider future emotional, physical, medical or insurance ramifications. All big players in the debate. How can anyone be expected to emotionally handle knowing their chance of getting cancer is like 87%? Physically- one would think this would help facilitate appropriate medical care- but I would encourage you to ask the next medical professional you run across if they've ever heard of Li Fraumeni Syndrome.  Many times it merely facilitates your ability to advocate for yourself more specifically.

I am in a support group for Li Fraumeni Syndrome. I'm a firm believer that social support by others who are going through similar trials can make all the difference in a person's journey. I also believe that healthy debate and contrary view points are instrumental in this journey.  I am not always right. And certainly what's right for me is not right for someone else. But sometimes you can get lost on your journey and if you have others experiences to guide you- it helps you make sure you are on the right path. Ultimately we never really now if the path is right, but sometimes the time passes a little better with someone by your side, pointing out things you may have not noticed otherwise.

One of the big discussions is about Preimplantation Genetic Determination. This is essentially in vitro fertilization with embryos that are selectively free of the p53 mutation.  This method can cost tens of thousands of dollars, but to some, this is an investment that will save them on costly cancer related medical bills down the road. The savings in emotional trauma could be priceless. The other option is is prenatal genetic testing. The genetic test can be done by amniocentesis and then the option of what to do with that knowledge is up to the parents.

A friend recently forwarded me an article about a family who received a 50 MILLION DOLLAR settlement because their child was "wrongfully birthed". Meaning they had the prenatal genetic test performed(for a different mutation), the results came back that the baby did not have the genetic defect when in fact he did. The family's counsel argued had they had the accurate results, they would have aborted the child. Mind you the child is now 5 and severely mentally and physically handicapped due to the genetic "defect".  SO in my mind- thankfully that child does not have the appropriate cognition to hear his parents repeatedly say that he was not wanted. Hopefully he does not have to feel this on a daily basis, but on any level it makes me sad and very angry.

This is not about abortion. This is not about mutations or science or God.  Like I said- genetics are a very very complicated issue. They are us on the very most basic atomic level.  I wholly support individual rights and freedoms to make their own stupid decisions. It does not mean I agree with it. But for me- when you step into the arena of parenthood- by accident, intent, willfully, maliciously or ceremoniously- the game always changes. You are no longer responsible for 1 human, you become responsible for more. You become responsible for the future, your future, their future, society's future. If you want to genetically design your child to be whatever way you can handle or love better, that will reduce reuse or diminish some burden on you or society- that is your prerogative. You will also learn the very real lesson in parenting- you are never fully prepared for parenting. Sure you want to give yourself the best foundation and in the case of selecting against having a harmful genetic mutation- maybe for some this is their best bet. Others will argue to let nature take it's course. I'm pretty sure we've already modified nature with radiation, technology, GMOs and vaccinations- but that is another subject for another time.

Every person needs to look at what they can handle. Parenthood is like one great big eternal surprise party. You never know when the diaper is gonna leak in the Burger King play place,  or when the flu will strike during vacation, or when a tooth gets chipped or a bone broken, or when cancer might strike or alzheimers or diabetes. All of which can be genetically "given" or acquired through lifestyle.  Or both.  But people have to choose their journey and if pre-selecting embryos gives them an ounce of control in a crazy situation- then that's what they have to do. At what point do we continually hold everyone else responsible for our choices?

I rolled the dice. And it has been hard. At times parenting feels like an exercise in continual disappointment. And it has been complicated by cancer- of which my children all are at higher risk for. I would not change them. Of course I still hope they don't have to deal with cancer and I sure as heck don't wish it on them. I would never choose this for them. But more often than not- the adversity that changes our journey is our reaction and perseverance to do just that despite and unchosen obstacle.  But there are so many things that we can not control- even if we try to. I would not go back for anything and select against them. And I am sure glad my parents did not have the knowledge, science or means to even think about selecting against me. And if I have at all touched your life in even a small way- then know in It's a Wonderful life fashion- that is how I feel about this. Not everyone is equipped for this journey. But I also have tons of friends who have children with cancer who had no family history of cancer. I know many women in my support group who are the first in their genetically non mutant families to be mutated. You never know when that surprise party is gonna be thrown. I know cancer. I've lived cancer. This diabetes thing- crazy. Many of my friends have kids with celiac(guess what- also a genetic mutation....)Alzheimers-scares the bejeezus out of me. Metabolic and genetic disorders that result in children who require 24 hour care- break my flipping heart.

I chose my children by nature of how I live. By accident or By intent.  They are mine. They are part of me, good and bad. They will be able to curse me and my mutant genes as I have cursed those that came before me. And we will be joined by the experience and the strength to overcome it. You control what conditions you can or want to. Their genetics was not something I wanted to dabble in, unless you count the fact that I chose their father to contribute half of his DNA.  Ever notice how bred dogs tend to get mean or end up sterile?  Nature will always try to find balance. SO although we struggle with the ramifications of our imperfect genes- the imperfect mutants those genes code for have shaped my life in such a way there is no other journey. The journey will be difficult. There are no guarantees in life- mutated or not. Some of those difficulties will be due to a mutation, but some of the gifts they receive will be too.  Those gifts might just be the key. The same science that offers the opportunity to eradicate mutants before birth holds the promise of helping them live long happy important lives.  I will try not to judge others or claim they don't love their children as much as I do because they approach it differently. You never know when these differences will intersect on a path and the friend you travel next to might be the very one you oppose and yet the journey together might just be the solution. 

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Lily Kay Monkey

Lily Kay Monkey
November 2008 Photographed by Shelley Detton (7 Layer Studio)