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My fight for my daughter,Turner Syndrome, common syndrome that goes unheard
Let me tell you a bit about me. I'm Janine a mom of 4 lovely children. I have a great husband who is caring and very hands on in the home and raising our children. I'm a disabled army veteran and SAHM and army wife, working on being a WAHM. My children a boy 6 and girls 3, 2 and 9mo. In the fall of 2005 we welcomed our third child into our home. We were excited this was a surprise pregnancy as I was on contraceptives when I conceived and my 2nd child was only 9mo when I found out I was 3mo pregnant. We wanted a large family and had though of having more children, we didn't know it be this soon. During my pregnancy I had preterm labor as with my others, this time way earlier and was showing earlier too. We thought it was because we conceived so quickly after our daughters birth and being the third child. They soon suspected something was wrong, I was measuring almost 2mo ahead and wanted to do an amnio. We refused as with this test we increased the risk of prematurity something we already faced as my other 2 were born premature. We decided to not go thru with it, as it would not change our plans. We would find out about her soon enough. Well we had tests every week and things kept the same. We had her early Friday morning at 36wks with less than 2hrs since labor had initiated and without having to push, a tiny little girl with a head full of hair. We immediately looked at her face and saw that she did not have Down Syndrome, we were relieved. This would be short lived, soon after we got her home we noticed she was different, very different. She never opened her eyes until after 3mo, she wouldn't cry out not even when hungry.Our home did not sound like a home with a newborn, it was very quiet. I know we should've been happy, but we were worried. I nursed her just like the others, however she spilled her milk and would spit up a lot. She couldn't hold her head up until after 5mo. She never really crawled, until after 15mo and she walked after receiving therapy at 19mo. During this time she had grown up until she was 9mo, she was a loud child, very temperamental and moody, but very still. By the time she was 14mo she had surgery for her ears as she was having multiple recurrent ear infections and no symptoms, we suspected this is why she suddenly stopped making noises and saying mama and dada. She also had her adenoids removed as she snored heavily and it go till the point when she snored while awake and sitting up. By then the WIC office was on the hunt with me to find out why my little girl would not gain weight or grow. It had been almost a year and she was the same size, granted she was big at first so the Dr's were not worried. I knew better, I knew something was wrong. Her chest was spread far apart and looked disfigured with an indentation that I had mentioned at every Dr visit since her birth. She was learning slower,doing things much slower and she ate all the time and no weight gain or growth, she did have unusual bowels.By then I decided to call my pediatrician back home and give him her symptoms, I was looking to see if he thought it was the same thing I though Turner Syndrome. As I explained to him her symptoms and that she looked OK, but we noticed minor physical differences in her, as all our children are very alike. He blurted out the words Turner Syndrome, he said to find out with a genetic panel. 2 weeks prior to this call we watched Medical Mysteries and the little girl on the show had most of the same symptoms as our daughter. I got online and searched and plugged in her symptoms and every time Turner Syndrome showed up as a possibility. So then our battle began to convince these Dr's that thought there was nothing wrong with out daughter to do a genetic test on her. They did all sorts of tests but did not want to contemplate what another DR had left as a suggestion, they ignored me, they made fun of me. They would tell me how I came in every week and there's nothing they find wrong with my child, they even suggested I feed her more. I guess they thought I was starving her.I stood up to the Dr's and told them I had 3 other children (as by then my 4th child had been born and was almost 5mo and almost the same size as her sister)that needed me and I had better things to do with them than hang out at the clinic weekly and having my husband get out of work to help out. My once very still child became a storm, she was everywhere and fast, could not stay still and was very loud and until this day is all those things. I told this Dr. another year better not got by and you find out you could've helped my child if we found out now. Lucky for us that Dr was out that day and we got another Dr. who had already heard from the previous Dr. his theory and the story, not paying attention to my daughters chart, they overlooked her developmental delays and other issues was about to dismiss me when he said "but she's developmentally fine", thats when I spoke up and explained everything from birth till then. Again I spoke up and this Dr heard me, my daughter presented with high blood pressure now and he mentioned if I ever heard of Turner Syndrome. Weird thing I was excited, even though I knew what this meant to her and to us to some extent, I was happy to see someone else thought the same as our Dr. and her previous Dr and us. We hurried and did the tests..4 long weeks went by and they came in, by then we had a new permanent Dr assigned to us. And he called us to go in for the results,which I already knew the answer. And that day weeks short of my daughters 2nd birthday we found out she was a 45XO, which means a female missing an X chromosome known as Turner Syndrome. This day I cried of relief because a battle that's started over a year was over but a new one was about to begin. Turner Syndrome occurs 1 in every 2500 female births and many live without knowing it, only 10% of pregnancies with Turner's make it to birth. I'll be updating on ongoing treatments, tests and symptoms in the near future.
What have I learned from all this? That I am a strong woman and even stronger mom and that maternal instinct goes beyond medical training. If I ever have a hunch I'll go by it. |
My 2yo Full of life
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