Today is February 29, 2016, and is considered Rare Disease Day. In conjunction with this, Turner Syndrome is a little known genetic defect that creates lifelong struggles for the girls and women who are affected by it. Turner Syndrome occurs either at conception or during the mother’s pregnancy. It is not something that can be inherited; nor is it caused by the health or age of the mother or her environment. It is a condition in which a chromosome is partially or totally missing, or may be altered in some way. This condition may be found during an ultrasound or amniocentesis testing, but normally is not diagnosed until the baby is born. Many girls are not diagnosed until their teenage years or beyond. Sometimes, parents who find Turner Syndrome in their unborn child, through amniocentesis testing, may decide to abort the pregnancy. If they do this, they are missing out on one of the biggest, most wonderful challenges of their lives, as a Turner’s girl is a very special type of child.
Features of Turner Syndrome
According to the Turner Syndrome Society, one in every 2,000 girls are diagnosed with Turner Syndrome. Although each girl may exude different features of the defect, some features are quite common among them. These include: short stature, wide or webbed neck, swelling of hands and feet (especially at birth), and numerous moles. Some of the other features include: infertility, receding lower jaw, ears that protrude or set low, a narrow, high-arched palate, droopy eyes, lazy eye, broad chest, arms turned slightly out at the elbows, scoliosis, flat feet, and/or short fourth metacarpal (bone in hand under knuckle). Other features may also be a part of Turner Syndrome.
Some of the issues faced by Turner’s girls include delayed growth, including puberty, spacial-temporal processing (imagining objects in relation to one another), nonverbal memory, speech difficulties, hearing loss, and a wide range of medical conditions. These can create difficulties with the learning process (especially math) and social skills.
Qualities of Turner’s girls
Girls and women who have been diagnosed with Turner Syndrome display a number of special qualities. They are motivated, determined, tough, capable, strong, fierce, talented, funny, and positive. They find ways to cope and meet the challenges of living with Turner Syndrome. They meet these challenges head-on, and with the proper support, are able to adjust to the social and physical limitations that Turner’s places on them. They are intelligent girls and women. Although they may need to go about things in their own way, they are able to get the job done.
Other Turner’s/rare disease/defect news
This news report tells of a Turner’s girl and her story. As part of Rare Disease Day, this video tells about numerous diseases/defects that, even though they are not very common, influence and change the lives of many.
Girls and women living with Turner Syndrome face challenges each day, just to get through the day. Because of this, they rise up with determination and strength to live their lives as normally as possible. They can be compared to the rudder that steers the ship as described here. James 3: 4 says, “Or look at ships: though they are so large that it takes strong winds to drive them, yet they are guided by a very small rudder wherever the will of the pilot directs,” (1989, The new revised standard version bible, New York, NY: American Bible Society). Shakespeare provides this fitting quote, “And though she be but little, she is fierce,” (Shakespeare, W., (1594-1595), A midsummer night’s dream, Act 3, Scene 2, in Bevington, D., (2009), The necessary Shakespeare, p. 63, New York, NY: Pearson/Longman).
Turner’s girls are fighters. They have the will, and they have the way to get things done.