|
|
Trisomy 18 Trisomy 18 is a genetic condition affecting the 18th chromosome. It affects approx. 1 in 10,000 babies. We are all made up of 46 chromosomes, 23 from our mother and 23 from our father, making a total of two of each chromosome. In Trisomy 18 there are 3 of the 18th chromosome instead of two. There is nothing wrong with the extra chromosome, it is normal, but it is extra; it is too much information. This causes abnormalities in the body. Babies with Trisomy 18 are mentally retarded and often have a variety of abnormalities with the stomach, esophagus, kidneys, lungs, and heart. The majority of the babies are girls. 90% do not make it to their first birthday. There are other chromosomal conditions as well. Trisomy 21 is more commonly known as Down Syndrome, and this means there are 3 of the 21st chromosome. This is the most common chromosomal condition, with Trisomy 18 second. Trisomy 18 & Paige Internal Problems Esophageal Atresia--This means that her esophagus was not connected to her stomach (atresia means closed off). In her case, the esophagus was sealed off into a pocket and her stomach was actually connected to her lung. TE fistula (Tracheoesophageal)--an abnormal opening between the trachea (windpipe) and esophagus (food tube). Choanal Atresia--This referrs to the nose, not something else that sounds similar. Her nose was closed off and did not connect to her respiratory tract. Hydronephrosis--dialation of the kidneys caused by fluid Cardiac deformities, including VSD, PDA, thick, pudgy Pulmonary Valve, Bicuspid Aortic Valve, and vegitation on the Mitral Valve Pulmonary Hypertension--high pressure in the lungs Underdeveloped lungs Two-vessel (umbilical) cord Suspected intracranial hemmorhage (bleeding in the brain)
Outward Physical Findings Look at my cute baby's picture, and this description sounds like a terribly deformed child, not my little baby. Nuchal fold--Skin fold on the back of her neck "Small, beak-like nose" (I think she has a cute nose) Small big toes (this is why Mike thought her second toe was long, it was only because her big toe was small.)
Paige had started to have trouble breathing on her own the night before we took her off the vent. The nurses said that they had to "fight to get her sats up" and her heart rate had been dropping. As a nurse, I knew that taking her off the vent was the right thing to do, the humane thing to do. I was still very sad when she died, as sad as any mother would be, but I was thinking like a nurse. It's probably just what my mind needed to do at that time to cope. Why Did It Go Undiagnosed? As I mentioned earlier, Doc was so upset. I think he felt like he let me down. All those weeks there, and he didn't catch it. Why, if they thought there was the slightest chance she had a TE fistula, and seeing the low lung maturity tests, didn't they stop and think: Hey, let's make sure nothing else is going on? It may have been my age, I'm not sure. Chromosomal problems are more common in older women. You want to know the real reason they didn't suspect anything? Because God was clouding their minds. I believe that with all my heart. I am glad it worked out the way it did. I got three days with her, as did my husband. My other kids got to meet her. I got pictures. I got to say goodbye. And I have the peace of knowing that she died because there was no other choice. If we had known the dignosis, they wouldn't have done my c-section. They thought they were saving the life of a healthy baby. Doctors cannot justify putting the mother through a dangerous, very invasive surgical procedure if it is not medically necessary. (Which I do not totally agree with, but that is another story...) I would have been left with memories of delivering my dead baby (I have friends who had to do this. I can't imagine) and never knowing: If they had taken her out, would she have lived? Would she have been one of those 10% who do see her first birthday? So I thank God for looking out for me and knowing what I needed before I knew it myself. He's always doing that. For more information on Trisomy 18 please visit the official site: www.trisomy18.org All information provided here is for educational purposes only. It is not written by a physician nor intended to be a diagnosis for anyone else's child. Always seek your doctor's advice for any questions related to your health or the health of a loved one.
|
|