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Jane Piano’s Story
Jane was born on June 9, 1963 at Holy Name Hospital in Teaneck, NJ, the youngest of 3 children.
On August 12, 2011, we lost her. The shocking news was that she stopped breathing during a routine seizure, and despite getting CPR from professionals immediately, they couldn’t revive her. She was only 48 years old, the baby of our family, the sunshine of our life, adored beyond belief, and it still confounds us.
Jane was apparently born with Turner Syndrome at birth, but no one, no one noticed it—even after the best of medical professionals diagnosed her birth as perfect. At four months old, Jane started having infrequent episodes of choking to the point of turning blue. We made many visits to our pediatrician who insisted it must just be a cough since he never ‘saw’ an episode in his office. It was so scary—because Jane had passed all the routine tests and was gaining weight, the doctor didn’t believe us and sent us home.
Shortly thereafter, we made a frantic call to our family internist. We told him how Jane turned blue while choking and that we feared for her life! Our doctor came to our house and witnessed Jane having a choking episode. He quickly turned her upside down, slapped her back and told us she had to be hospitalized immediately. He arranged the hospital admittance for the following morning to Pascack Valley Hospital in Westwood with instructions for us to stay awake in case of another event.
After a weeklong workup, a barium swallow test showed Jane’s esophagus being pulled to her left. They concluded it was an aortic valve circling her esophagus, and surgery was needed at Columbia Presbyterian Babies Hospital in New York. Within 48 hours, the team of Heart Doctors at Babies Hospital scheduled Jane for what was called a “vascular ring” surgery (also called aortic valve dissection). Of course we were so happy that she came through it beautifully and were told she would be normal from now on.
Looking back, we wonder why a chromosome test wasn’t included. We ask ourselves now if it could have prevented a lot of heartache and pain.
When Jane was 2 years old, we observed odd behavior that frightened us again. The heart team at Babies Hospital advised us to see a neurologist at the Neurological Institute at Columbia Presbyterian. The top doctor there ran a ten-day neurological workup. He found oxygen loss to the brain in the motor area, presumably caused by ‘cerebral insult’ associated with the thoracic surgery. This meant she was now neurologically and physically impaired, as a result of the surgery to repair her cardiac anomaly (which we now know was from TS). He classified Jane as having Cerebral Palsy.
Although we realized this meant a lifetime of special care - we were still thankful she would be alive! Nonetheless, looking back we can ask again, why didn’t anyone think of a chromosomal test?
At 13 years old, with no signs of imminent puberty, and her stature remaining quite short, Jane was finally given a chromosomal test. We were told that a normal female baby has 46, or 23 pairs of chromosomes and two “X chromosomes. Sometimes an error occurs resulting in a baby with 45 chromosomes and only one “X”. This child will have Turner Syndrome.
In Jane’s case, 90% of the cells showed a normal appearing 46, XX female chromosome complement, the remainding 10 percent of the cells had a 45, X karyotype. This finding is consistent with a clinical diagnosis of ‘mosaic” Turner Syndrome. Her doctors did not suggest any hormone therapy – at that time it was a controversial issue. Most expressed a negative reaction when we asked about it.
However, it never sat right with us that Jane was not getting any treatment for TS. So when Jane was 22 years old, Mom arranged a consultation with the Director of the Genetics Clinic at Babies Hospital who analyzed her chromosomal test and told us that if the diagnosis is made before puberty, the patient may be given hormone treatments to induce breast development and menstruation. It does not make the patient fertile, but is done chiefly for psychological reasons. Forget about giving Jane growth hormones—at 22 years old, it was too late.
Mom researched the subject further, looking for some answers in the hopes that it might not be too late to somehow help Jane. It was difficult because Jane was atypical, even for Turner. Mom came across an article featuring a woman with TS who was encouraging readers to learn more about TS by contacting the Turner Syndrome Society located in Minneapolis, Minnesota. Mom contacted them right away and was sent a white paper that outlined the latest medical information on TS.
Finally we were able to learn about the care of adult women with TS. There was a growing body of evidence that estrogen plus progesterone replacement therapy would prevent osteoporosis as well as improve the quality of life for these women. Mom contacted one of the authors and shared Jane’s story, and he was adamant that Jane be started on hormone therapy. Despite this advice from a ‘thought leader’ in the field, we could not convince her doctor of the benefits.
This led Mom to find an endocrinologist who agreed to take over Jane’s healthcare (this was a big deal, because Jane was under the care of a GP at a residential facility where she lived, so taking her to our own doctor was a bold move). Jane started getting estrogen at 37 years old. This helped Jane a great deal initially, but was not enough to prevent osteoporosis, which resulted in some fractures that further disabled her and negatively impacted her quality of life.
What we now know and wish we had known a whole lot earlier, we found out from the Turner Syndrome Foundation. The Turner Syndrome Foundation are striving to ensure that TS women like Jane have a happy ending to their stories. Information is available and should be widely distributed to all school nurses and doctor’s offices.
Our Turner Syndrome precious Janie could have had a better life than she did, but she is remembered by so many for her sweet, friendly, and angelic personality. Our love for her is so deep, we wouldn’t have wanted to miss one minute of her short time with us here for anything in the world.
Jane’s Mom Anne and sister Claudia
For more information about Turner Syndrome, visit www.TSFUSA.org
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My Story URL: https://tsf.myetap.org/MyStory/
|Piano Family||12/29/2012||$100.00||In memory of our precious Janie|
|Gary & Sheila||10/18/2012||$50.00|
|Regina Eyer||6/13/2012||$50.00||For Jane.....|