Right in front of your eyes, she is becoming a woman. Or is she?

Many young women find their adolescent years with Turner Syndrome difficult like all girls, however, often they are falling behind in height, sexual development, and even socially.

Perhaps she has some of the possible indications commonly seen in adolescents with Turner Syndrome:

• Short stature
• Delayed or missed puberty
• Frequent ear infections
• Difficulty in school
• Friendship issues

With this diagnosis, you may begin to understand that some of the underlying difficulties seem to make sense, or some others come to light. That is because she has a syndrome that is complex and affects every aspect of her being.

You may wonder or even criticize yourself asking, how could this diagnosis have been missed?

Far to often, a young child’s behaviors or health issues are attended to individually, especially if there are no emergent health issues requiring hospitalization or extensive health screenings. And, it is generally during the period of adolescence that your daughter may begin to notice that she is not developing like her peers. This often leads to a dialogue of concern with her pediatrician and referral for screening.

Eventually, a karyotype blood test will definitively lead to a diagnosis. It is at this time, that without delay you should schedule an appointment for her to be seen by a pediatric endocrinologist. Following the diagnosis, there will be a series of testing that will ensure that she is in good health, that there are no congenital defects of her heart or kidneys. She will have to see several specialists for additional evaluations, have a sonogram of her ovaries and uterus, a wrist x-ray to establish her bone age, as well as additional blood work.

Once the evaluations have been completed, your primary care physician, likely her pediatric endocrinologist, will begin to discuss a plan to optimize growth and feminization respectively during these adolescent years. This is a sensitive time for you as her caregiver as you come to terms with your new normal. As well, your daughter may become overwhelmed with the number of tests and doctor visits, and the disruption of her life, missing school, and not fully understanding her condition.

As a family you are on a quest for discovery and to find your new normal. Be calm, be patient, and persist to find the best available care options. Talk and be honest with yourself and each other. Find a network of support to strengthen you. Be confident that, together, you will find the courage to navigate this journey, and that everything will be alright.

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