Wednesday, March 7, 2012

Starting the new blog

So I initially started a blog almost 2 years ago, I posted once lol and time has obviously past so here I go trying to start again. My goal is to post at least once a week, I think that is a very obtainable goal but we will see what reality really does with that!
Did you know that this month is Trisomy Awareness month? You may not even know what Trisomy even is...I know prior to having Liam I knew very little about genetics and names, so I'll give a small education bit here and then explain why it is important to our family. When a baby is conceived it is given 23 chromosomes from both his/her mother and father, they are numbered 1-22 and then the 23rd is the sex chromosome. With an X given from mom and either a X (for girls) or Y (for boys) from Dad. This lands a person with 46 total chromosomes in each cell of their body, this is where our genes are passed down from our parents and powers everything within our body regarding growing, hair color, eye color etc. When a person has a Trisomy, they end up with not 46 but 47 chromosomes, with one pairing having 3 copies instead of the typical 2. The most commonly known Trisomy is Trisomy 21 also known as Down Syndrome. The next two are Trisomy 18 (also called Edwards Syndrome), and Trisomy 13 (also called Patau Syndrome), both which often lead to death in infancy. Triple copies can occur in many different forms as well but I will save the additional details as this might be a bit much to follow as is.
So now the question... Why is this an important lesson to the McCarty family? When Liam was born, he had a large hole in his heart (called a Ventricular Septal Defect, VSD), he has feet that are oddly shaped, he had jaundice, had a difficult time eating and the list lengthened quickly. Our cardiologist suggested we complete genetic testing at that time, and just prior to Liam's open heart surgery we did. When he was 5 months old we found out that he has a duplication on his 18th chromosome. This is not considered a full Trisomy by any means, but the point is some of his genes are duplicated and for technical purposes we can say he has a partial Trisomy 18P... (each chromosome has two piece that connect together. They are the q arm -which is long; and a p arm- which is shorter...his duplication is in the middle of the p arm). So, although Liam is less affected then children with a full duplication, he is none-the-less affected. The really ironic part of all of this is that I share the same duplication and seem unaffected. I have however researched literally hours since his birth and know that females with changes on the 18th chromosome are often less affected, in our case I have Mitral valve prolapse (a heart valve sticks) and some bouts of anxiety and little else.
So I wanted to share information in celebration of Trisomy awareness month I hope you learned something knew today!