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Hi my name is Heather. I have been married to my best friend since 11/03/2007. We have a healthy son Brent a angel daughter Addison, healthy rainbow Iva and a angel son Pierson. We are just a family that loves each other and tries to spend as much time together. We have learned from all of our past we appreciate the little things in life.

Thursday, June 23, 2016

*Arthrogryposis*

Arthrogryposis is something I have learned and studied a lot about the last 5 years or so.
What is it? Arthrogryposis is a umbrella to 400 different types and conditions. Being diagnosed with Arthroygposis is not actually the diagnosis its just part of something else. Arthroyposis can be caused by many different factors, environmental, maternal disease, pregnancy complications, fluke or genetically inherited. Me, me I carry a mutated gene oh and so does my husband. So when both parents carry the mutated gene and connect together we now have the chance on passing it on to our children. We have now have had 2 affected babies with some kind of genetic type of Arthroyposis. Totally sucks that I have done this to 2 of my babies...
Having a genetic type of this is very very rare, why you ask? Well because I have to find that same exact person with the same exact mutated gene to be able to even pass it to my babies. Well lucky me I have found my exact match, literally... Maybe I should try to play the lottery more often, I have some statistics stacked against me. Anways, so each pregnancy we have a 25% chance of passing it on and having a affected baby, then our current unaffected children Brent and Iva have a 50% chance of being a carrier and then a 25% to not be a carrier at all.
How did we figure out its genetic?
Well with Addison we weren't exactly sure if it was genetic. We never did an autopsy with her because I kinda new if we did it would be a shot in the dark of actually finding the gene. But in the back of my mind I always new, I new it was genetic. I go back when I was pregnant with Addison and  Dr. Hall the geneticist that pretty much study her whole career on Arthrogryposis told me over the phone if she dies its most likely genetic. I kept that little side note with me all of these years. When I got pregnant with my rainbow baby my MFM told me it was 6-7% reoccurrence just because we didn't know what happened with Addison. But in the end Iva was a healthy baby, lets say unaffected baby. Well I got pregnant again about a year or so after Iva. I lost that baby at 14 weeks, another post I will write about. But we knew for fact he had the same thing as Addison did. So now we are classified of having a recessive mutated gene. Unfortunately we don't know what gene it is, the 7 we tested all came back negative...

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