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As a child, I was at the doctor's office frequently. Before I could talk, my pediatrician had told my mother that there was something wrong with me. The pediatrician first diagnosed me with Rubenstein-Taybi Syndrome which consisted of moderate to severe mental retardation and distinctive physical attributes which could be seen by looking at the face, as well as, other internal medical problems and short stature. To this day, my mother is still unsure of how he came to that diagnosis because I did not have any of those physical attributes. A few years later, after I had begun school(not special education), we went back to that doctor with my report card. Upon reviewing the report card, which had all A's, the pediatrician concluded that I no longer had Rubenstein-Taybi, but now had Noonan Syndrome. Noonan is characterized by short stature, congenital heart defects, webbed neck and an unusual chest shape, but without mental retardation. At this point, aside from my being rather small for my age and having a slight heart murmur, I still had none of the physical attributes of this syndrome.
The one attribute that I did, however, develope was a low self-esteem and a low self-image. Apparently there was something wrong with me, but no one knew what it was. I was forced into believing that I was somehow abnormal. At this time, if I was my mother, I would have gotten a second opinion, but she was a single mom and thought she could trust the doctor.
A year or two later, the diagnosis changed again. This time I had Turner Syndrome, which is similar to Noonan, but specific to females only. The main characteristics of Turner's is short stature and late or no development of puberty. I was only about 8 years old at the time, so there was no way to tell if I would hit puberty or not. Some of the other attributes of this syndrome seemed to fit a little better, but it would be a waiting game.
At 9 years old, we went back to that pediatrician for my yearly physical, only to find out that he had left the country. A woman doctor took over for him and examined me all over again. She came to the conclusion that I did not have any of these syndromes. I was just as normal as everyone else. Although there was one thing that could not be explained, I was still very short for my age.
About 20 years later, I did some research on my own. I suppose I still felt like there was "something wrong with me." I thought that maybe I did have Turner's Syndrome after all, but the two main attributes of Turner's Syndrome is short stature and infertility and/or lack of menstruation. Most girls with Turner's Syndrome can reach a height of 4'8" with hormone shots and I am 5' without hormone shots. I also reached puberty at an appropriate age (14)and I am not infertile.
Choosing a pediatrician should be a careful and well thought out process. Use family and friends to help you choose someone that they have known and trust. And most importantly, go with your gut. Only you know your child the best and if something doesn't sound right, get a second opinion. Although I am perfectly normal, physically, I know that those doctor visits changed me emotionally.
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