I have a chromosomal abnormality called Turner’s syndrome – first described by Dr. Henry Turner in 1938. This occurs in about 1 out of 2500 live female births. 98%-99% of pregnancies with Turner’s syndrome spontaneously miscarry. I consider myself a survivor and a fighter. (I think other Turner women would agree with this as well.) I don’t believe that a genetic condition is an automatic death sentence and strongly oppose doctors who would have advised my parents to abort me if my condition had been known prenatally. Turner’s syndrome is the only chromosomal abnormality that does not result in mental retardation. They may have other learning disabilities but intelligence runs the range of the normal population.
There are three time periods when Turner’s syndrome is usually diagnosed: First, it is more common now to have it diagnosed at birth: Doctors my see puffy hands and feet (lymph edema), a webbed neck, low birth weight or heart defects such as coarctation of the Aorta. Girls or women with Turner’s may have a webbed neck – the cord in the neck is usually repaired through surgery. I myself have a thick, though not webbed, neck and a low hairline. Droopy eyelids and a distinct sphinx-like-look to the face with a high arched palate and small jaw give a somewhat typical look. I have had middle-ear problems from early childhood. I had what I refer to as Mickey Mouse ears which were pinned back surgically during one of the numerous times I had tubes put in my ears or my eardrum repaired. I have problems with keloids. I have one on my left shoulder that has been removed and lasered several times. It continues to grow back although laser seems to slow the growth. Kidney abnormalities are fairly common in Turner’s patients as well. I have a horseshoe kidney but have never had problems with it. This means that my two kidneys are connected together instead of separate and would be problematic if I lost the function of one. As an infant, I had a failure-to-thrive and didn’t sleep through the night for a full year – which must have given my mother fits.
In childhood years, repeated middle ear infections, kidney abnormalities, or other issues may lead a doctor to consider a possible diagnosis. I have never had any of the heart problems but have had probably close to 15 surgeries on my ears. I have had tubes and numerous repairs to my ear drum and middle ear. I did not receive any special services at school. I sat in front of the class and had to work extra hard to do well. I have worn hearing aids since I was 21 and have a severe to profound hearing loss. I only reluctantly consider myself as having a disability because of my hearing loss rather than having Turner’s syndrome. People, including family members, tend not to understand how hearing some things and not others can lead to a sense of paranoia. (For example, are they talking about me?) Since I may hear your words or a sound under some conditions but not others, people may think that I am being rude or resent having to repeat or speak up. Functioning every day takes a lot of energy.
I was sixteen years old and learning about the condition in my sophomore biology class at the time of my diagnosis. My parents and I spent many hours with appointments with the doctor’s while they consulted and made the diagnosis. I had to sit in front of large groups of doctors and have pictures taken for research purposes. My mom and I joked that these were my “modeling glosses”. I really felt like a freak show however. At 16, I was more interested in how to get guys to notice me than finding out that I would never be able to biologically conceive. Before my parents officially told me the news, I somehow knew that I couldn’t have children.
Finding out about having Turner’s syndrome was almost a relief. I had always felt different somehow but didn’t know why. Finally I had an explanation. Being short hasn’t been all bad either. As a teen, when one person had a driver’s license and the gang all piled in, I always got to be the one to sit on the cute guy’s lap.
In school I got good grades but had to work hard at it. I did not receive any special services like what is available now. I sat in the front of the class so I could hear. But that was all. I was picked on and teased unmercifully, especially in Junior High. In school plays, I only got small parts and was typecast as the little kid. Math was always hard for me. Most of my Turner’s friends say this too. However, I do have a Turner friend who is an accountant. It is said that females are more verbal. This is especially true for Turner’s girls/women in general. I love to read and I write poetry. We often have space-depth perception problems. I am usually aware of this only when it comes to driving. I did not get my license until I was 21 years old. To this day my parents are overprotective and I’ll admit I am not the world’s best driver.
I didn’t date in high school. I looked three years younger than I was and couldn’t get older guys to notice me. I thought younger guys were immature. My husband and I met between my sophomore and junior year of college. I never thought I would tell a guy about having Turner’s syndrome so soon, but I told him after only 3 months. I had to know before our relationship went further and didn’t want to get hurt if he couldn’t handle it. He told me that he loved me and that it didn’t change the way he felt about me. We have been married 20 years. We adopted two children: Our daughter is now 17 and came to us from Haiti when she was 6 months old. Our son is 14 and U.S. adopted from Georgia .
In January 2006, I participated in research at the National Institute of Health in Washington D.C. area. They are conducting a long term study that compares the phenotype (physical characteristics) to the characteristics of the genes as shown on the karyotype. They tested many parts of my body: heart, blood, thyroid and bone density.
I hope that I have given you both information about Turner’s syndrome and an understanding of what it is like to live with a chromosomal abnormality. I’ve learned a lot about myself and my body over the years.