Living with Turner syndrome

The journey to diagnosis and beyond

Sarah’s story

I can still hear the doctor’s voice on the phone. “I have the results, and I’m very surprised. Sarah has Turner Syndrome.” That was when my daughter, Sarah, was first diagnosed, aged 7 years. When I put the phone down, we sat her on the table and told her the news. That was why she hadn’t grown, and that was why her little brother was about to outgrow her. From that moment on, Sarah became a different girl. I believe she was just so happy and relieved. And so was I.

We lived the first years with Sarah in blissful ignorance. Her growth curves were good, and various tests were passed with flying colours.

Three times a week we went to the playgroup. We had many fun hours there, but I could see she wasn’t very interested in the other children. She’d start off playing quite happily, but within a short time she’d drop out of the game. Was something wrong? Like any anxious parent, I started to have my doubts.

At nursery school they noticed she did not always behave like the other 4–5-year-olds. Her language skills were excellent, but she had difficulty concentrating and managing abstract tasks – seeing the world from a wider perspective.

It wasn’t until a routine medical check-up with the school doctor that the breakthrough came. Sarah had not grown a single millimetre since her last check-up. The school doctor sat there with a growth curve flat as a pancake and said, “There is something wrong here”. Was I worried then? Yes, absolutely. I had so many questions, but no answers yet.

Sarah was referred to a specialist in childhood diseases who suspected a gluten allergy. I couldn’t believe it. I know my daughter; it must be something else. In the meantime, we had Googled “lack of growth”. At our next appointment, we asked if Sarah could have Turner Syndrome. The specialist wasn’t convinced, but because she couldn’t completely rule out a mosaic, it meant another trip to the outpatient clinic and more blood samples.

By now, I was starting to get frustrated and angry with the seemingly endless appointments and tests. But when the results came through that confirmed the diagnosis, I was so relieved. It was Turner Syndrome. I knew it!

Once we had the diagnosis, we were able to put a plan together. You see, Sarah’s biggest problem is concentration – she’s easily distracted. We had a meeting with the school principal who suggested that she start in a miniclass of between 3 and 5 children, all of whom needed intensive teaching.

Sarah now manages so well in Danish that she can follow her normal class for most Danish lessons. I am so proud and happy! All the support she is getting will equip her for further schooling, regardless of which school/school option she continues with. It’s a huge weight off my shoulders to know that she’s ready for the phase of her life.

We have chosen to be very open about Sarah’s diagnosis. We’re active in the Danish Turner Syndrome Society contact groups, so that Sarah has a network around her, and so we can keep up to date on the latest research. Over the last four years we have met and talked with many amazing families. Hearing about other people’s experiences and their stories has been very rewarding for us.

When we finally got the diagnosis in 2005, Sarah started growth hormone treatment. In the three years since then, Sarah has grown so well. To be honest, we’re not too concerned if she grows to be 150 or 165 cm tall. The most important thing is that she is a healthy girl who enjoys life. We’ve been on an incredible journey and I’m so grateful to have her in my life.

Male and female patients waiting in corridor of medical centre

Get prepared for talking to your doctor

If you are concerned about your child’s growth, don’t hesitate to speak with an HCP. They will be able to complete some measurements and investigate further if needed, potentially referring you on to a specialist. Here we can help you plan for both conversations.

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The image shown is not Sarah and is for representation purposes only.