APADEST, the Piedmont Association of Friends of Turner Syndrome, works with this genetic disorder that affects females as a result of an alteration or complete absence of one of the X sex chromosomes. In recent years, the organization has stepped up to meet the growing number of requests for support arriving from couples throughout Italy who have received a prenatal diagnosis of the condition.
Expecting a child is always a great surprise — for us, a moment of enormous joy that makes us feel both carriers and guardians of a new life. Expecting a daughter with Turner syndrome was a second great surprise.
Clelia is beautiful, luminous, radiant — our pride and joy! Now that she is four, everything seems easier. We face problems one at a time and try to overcome our doubts and fears with a smile. But during pregnancy, it was not so simple. At the first ultrasound, they found an increased nuchal translucency. They recommended a second-level ultrasound a few weeks later. Not fully understanding what this meant, we were referred to Sant'Anna for a more thorough prenatal diagnosis. That's where we met Dr. Gaglioti, someone we deeply respect both for his ability to explain potential conditions clearly and for the good humor he brought to those difficult moments. The amniocentesis — which we underwent not to consider abortion but to understand which conditions to look for — finally revealed that our daughter had this rare syndrome we had never heard of before. We found information online. Our parents supported us and showed great interest in the baby's health. One day we came across an article saying that 99% of these pregnancies don't reach week 28. I realized then that ours was not a misfortune but a blessing: our daughter was part of that 1% capable of living. Fortunately, our daughter has no serious problems. Some recurring ear infections, a horseshoe kidney (which functions normally), a bicuspid aortic valve that needs monitoring — nothing that prevents her from living a normal life and doing sports like everyone else. Of course, fears about the future linger: autoimmune diseases, infertility, academic struggles. Sometimes I wonder, as a mother, what my daughter would have been like without that missing X. The answer came quickly and transformed into another question: what would I have been if I'd been born a boy? Who would I be if I had a different appearance, if I'd been born into another family, if I'd had different experiences? Simply put, I would not be me. I would be someone else. The same is true of Clelia. There is no Clelia without Turner syndrome. She is who she is because of those chromosomes, those genes, those organs that work or don't work — and she is beautiful. Our pride and joy. Our sun who sings all day long, even while eating, never quiet. The one who pesters her older sisters relentlessly to join their games with incredible force. The same Clelia who tells me, "Mama, I love you so much," because she feels loved for who she is.
Having children is always something great. But having special children is an ever-renewing surprise beyond measure. You have to experience it to believe it.
What Is Turner Syndrome
A condition first described by Henry Turner in 1938.
It affects females only and results from various abnormalities of an X chromosome.
These anomalies appear in different proportions in cells throughout various organs and systems, producing either mild or severe clinical presentations.
The main clinical signs include: short stature (90%), ovarian insufficiency with primary amenorrhea or early menopause and/or infertility (80%), heart disease, particularly bicuspid aorta and/or high blood pressure, kidney malformations (usually with normal kidney function), obesity, impaired glucose tolerance, autoimmune conditions such as thyroiditis, celiac disease, and liver disease.
The syndrome does not cause intellectual disability, though some difficulty in mathematics and spatial-temporal orientation has been reported. Minor psychological problems, and rarely major ones (psychosis), may emerge in connection with challenges entering the workplace and maintaining relationships.
Turner syndrome can be treated with growth hormone for short stature, with estrogen-progesterone therapy for ovarian insufficiency, and with orthopedic, eye, or hearing supports. Patients receive complete exemption from healthcare costs under Italian law (Ministerial Decree 279 of May 18, 2001, concerning Rare Diseases).
Advice for Parents
If your daughter has been diagnosed with this syndrome, help her understand what it is and what it means, at a level appropriate to her age and development. She will need to learn to live with the condition. Listen carefully to her questions and answer them honestly. Don't become impatient if she asks the same things repeatedly. Encourage her to talk with you about her concerns without becoming overprotective.
Know, too, that nearly all specialist centers where your daughter will be followed offer neuropsychiatric and/or psychological support for you and your daughter. Don't hesitate to ask for it.
Contact us for detailed information about the condition, the nearest diagnostic center, and much else besides.
Maria (one very proud mother), 2008
CONTACT INFORMATION:
President Marta Giunti: Via Selvaggio 188, 10094 Giaveno (TO)
tel. 011/9339873
cell. 3491221466
Dr. Patrizia Matarazzo
Endocrinology Division, Regina Margherita Children's Hospital, Piazza Polonia 94, 10126 Turin, tel. 0113131790, fax 0113135394, email: matarpat@libero.it