"Not flesh of my flesh, Nor bone of my bone, But still miraculously my own. Never forget for a single minute,
You didn't grow under my heart - but in it"

Tuesday, March 8, 2011

March 8 n Trisomy 8

First, let me say HAPPY 4th BIRTHDAY SARIE ELLE!!! Yes that's right we have a 4 yr old in the house now. Such a sweet kid too! More on her over at our family blog

Now on to Trisomy 8. March is Trisomy awareness month, did you know that? Some Trisomys I bet you know about, like 21, the most common which is Down Syndrome. Most text books quote the incidence of Down syndrome to be between one in 700 to 800 live births. People with DS are now living longer than ever before. Then there is 13 which is Patau syndrome Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to Trisomy 13 occur in either the sperm or the egg that forms the baby. Trisomy 18 is Edwards Syndrome. Trisomy 18 occurs in about 1 in 5,000 newborns. Approximately 80 percent of newborns affected by this disorder are female. Although women of all ages can have a child with trisomy 18, the chance of having a child with this condition increases as a woman gets older.

Trisomy 18 and trisomy 13 are genetic disorders that include a combination of birth defects including severe mental retardation, as well as health problems involving nearly every organ system in the body. Unfortunately, 90 percent of babies born with trisomy 18 or 13 die by age 1. It is important to note that 5 to 10 percent of babies with trisomy 18 or 13 do survive the first year of life. Therefore, these disorders are not universally fatal and, in the absence of any immediate life-threatening problems, accurate predictions of life expectancy are difficult to make. There are a few reports of babies with trisomy 18 or 13 surviving to their teens, however, this is unusual.

There are other Trisomys out there as well. But now I will talk about Trisomy 8. If you try googling trisomy 18, 13,9 or 21 you will have a lot of info come up. That doesnt happen with Trisomy 8. When we first heard about Noah we were told that he probably had Cri du chat syndrome. That is a french term for cat cry syndrome. The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females. So we looked online and the what we found was a lot of bad news. At least it had a name. Then we found out it wasnt Cri du chat but Trisomy 8(q24).

What is Trisomy 8? Well, we would love to know that too. Lol. Trisomy 8 from what we have found out affects the 8th chromosome. This is what we have found online: Trisomy 8 is defined as the presence of three full copies of chromosome 8 in all of a person's cells. Mosaic trisomy 8 describes the situation that occurs when only a portion of these cells contains three copies of chromosome 8, while others contain the usual two copies of that chromosome. For example, people with mosaic trisomy 8 may have cells in their blood and other tissues with the normal chromosome number, but may have cells in their skin with trisomy 8.Full trisomy 8, which occurs when all of the body's cells contain an extra copy of chromosome 8, is not compatible with life. A similar but less severe condition called mosaic trisomy 8 occurs when only some of the body's cells have an extra copy of chromosome 8. The signs and symptoms of mosaic trisomy 8 vary widely and can include intellectual disability, absence of the tissue connecting the left and right halves of the brain (corpus callosum), skeletal defects, heart problems, kidney and liver malformations, and facial abnormalities. Trisomy 8 mosaicism is also associated with an increased risk of a specific type of cancer of blood-forming cells called acute myelogenous leukemia.

I have to say upon meeting Noah for the first time I never felt like this was hopeless. I still dont. I dont feel like I live daily reminded he has Trisomy or that his life is destined to be short. To me he is a typical kid. He does things on his own terms at his own time. He has a feeding tube which at first I thought would just be the worst thing ever. I said there is no way I can deal with a feeding tube and yet here we are. dare I even say that I am a pro at it. Now I even find it funny when I disconnect him and his mickey button lets a ton of air out and makes a funny sound. We joke that its like a release valve in him. How many of you have kids that have a deflate button?

I have to say that before I had a child with a Trisomy my world was ok. Now after having a child with Trisomy my world is brighter. I see vivid colors and beautiful smells and the sky is bluer, the birds chirp louder and life is just amazing to me. To think that I may have gone through my whole life never seeing the world like this just saddens me. I have learned true strength. I have learned endurance. I have learned to appreciate the small things. I never knew a child crying would bring me joyous tears. Never did I think we would sitting would be reason to throw a party. Or that taking a few steps would make me jump up and down with excitement. Since having Noah my life has had more tears(mostly joyful), more emotions than ever before. Since having Noah I have found my voice not only to stand up for him but for my other children as well.

My hope is that one day we can add another Trisomy baby to our family. I also hope that by becoming aware you would consider helping a child with a Trisomy. Many children who have Trisomy are available for adoption all over the world. So many of them unwanted and dying alone in a room simply because they had extra chromosomes. So all I ask is that you pray. Pray for the babies born with trisomy. Pray for the families affected by Trisomy. Pray for God to open your eyes and your heart and do what He asks. Make yourself aware. I dont mean to get all 1980 abc on you but Knowledge is power :)
Here are the many faces of Trsiomy

Be Blessed

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