Saturday, August 24, 2013

Will We Prevent Infertility?

Will we be able to prevent or at least predict infertility soon?  God, that would prevent and heal a lot of heartache in the world.  Losing kids or not being able to have them is a pain I wouldn't wish on any person who didn't choose it.  I've experienced too much in the past few years all due to infertility.

In case you are new to the blog I have a Balanced Translocation (BT for short).  In medical terms that means one part of Chromosome 8 and one part of Chromosome 15 switched places.  All the information is there so I’m 100% fine.  If I never chose to have kids I never would have realized there was a problem.  I’m not missing or adding any genetic material. 

The problem comes when I try to have kids.  I can get pregnant just fine.  That gets a bit frustrating when the infertility material is usually geared toward women who are having issues becoming pregnant.  When I get pregnant the eggs pass on a genetic code which is not in order.  Part of 8 is on 15 and vice versa.  So my pregnancies have ended in losses because there are many genetic disorders that can’t sustain life.

I want you all to understand I wasn't sick.  I didn't have the high blood pressure or high blood sugar.  It wasn't an effect of alcohol or smoking.  My pregnancy was no where outside the range of a normal pregnancy in how I was physically.  There are no physical symptoms to diagnose a BT.  You can’t prevent this with any holistic diet or exercise.  No amount of Folic Acid is going to change the genetic make-up of the egg.  If the genes of an egg or sperm are out of order you lose information or add too much.  It’s like playing a game of Russian Roulette where the sperm has to hit just the right egg or else disaster strikes.

Since this is a genetic disorder you can be a carrier if you are related to me by blood, be that a cousin or an Uncle or a Great-grandparent you could be a carrier.  You could suffer multiple miscarriages.  You could have a high risk pregnancy and not realize it.  Or you could be proactive and get the blood test done.  You can be listed as high risk until you know you are safe.  The beautiful thing about some genetic disorders is that you can treat some things if you catch them early on. 

By the time I found out the sex of the baby I was discovering I needed specialists but it doesn't have to be that way for everyone.  For the rest of the time there were a series of professionals working with me.  They helped me make every decision.  Ultimately, it was that team who was there from the time I found out something was wrong to the time I found out I had the Balanced Translocation.  There were even more specialists I consulted when I wanted to know what this meant when it came to me ever having children.

In the end my choice was to be happy.  That meant not having kids.  I could have chosen Pre-implantation Genetic Diagnosis or chosen adoption but I wasn't prepared for any more loss.  It was all too much for me and I personally think it took guts for me to make the hard decision not to have kids.

But I don’t know where this BT came from.  Most of my family has been cooperative in getting genetic testing done when they have had their own kids.  I pass along my medical files in an e-mail.  They take it to their doctors who know exactly what to do.  It’s simple.  Thankfully, no one has had the disorder.  Most haven’t gone through what I've gone through.  That is wonderful.  But I still wonder when I see things like this:

the new study indicates that at least 90% of the deleterious mutational variants in the human genome occurred in the last 200 to 400 generations (5,000 to 10,000 years).

Read more:

Why does it seem so rare to see these mutations when they are so prevalent in our make-up?  Can we prevent these mutations to have the best chance of a healthy pregnancy?  Should we do all we can to prevent these pregnancy losses?  When I think of the pain every parent who lost a kid has had to go through I would love to see any advances to minimize pregnancy loss.  There are a whole plethora of questions I could ponder over these medical advances.

In the past year or so I've started to see the value of mapping my genes.  If we all become proactive we can cater our lifestyles not based off what diseases you remember second-aunt Nana had and the ones you think your Dad had but you’re not sure.  I think we all know how annoying it can be to try and remember the medical problems of our entire family at a random doctor’s appointment. 

We can swab our cheek and before you know it we’d know what diseases I’m predisposed to have.  I could use that to alter my life choices for the better.  As these genetic mapping kits get better I think future generations have the ability to prevent diseases they know they are likely to contract.  I would have loved to know it was likely I’d deal with infertility.  I could have prevented a lot of heartache.  How different would my life be today if I had known?

What do you think of sites like where you can map out your genes?  I’m really thinking I’m going to do it.  If nothing else I could say I did something to help advance medical science since I know I have some pretty unique genes.

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