The Falasz Family Finds Comfort in Their Care Team After Turner Syndrome Diagnosis

For the first 18 months of Rose’s life, her parents Annie and Nick had no reason to think she was anything but a typical, healthy and happy baby. Throughout Rose’s first year of check-ups, she’d consistently come in under or around the first percentile for height but given that Mom is 5’1” herself, this was not initially a flag for concern – a shorter stature was to be expected on some level. However, the family’s pediatrician at the time felt best referring them to an Endocrinologist to confirm that everything was okay.

It was here that genetic testing unfortunately did reveal something out of the ordinary – Rose had Mosaic Turner Syndrome. Turner Syndrome (TS) is a genetic disorder caused by an abnormality of the X chromosome, and the Mosaic type means that some of a child’s cells have a pair of X chromosomes, while other cells only have one. This happens randomly during cell division early in pregnancy.

“We were pretty devastated to hear that our daughter had been living with a syndrome her whole life without us knowing, and we had never heard of Turner Syndrome before Rose’s diagnosis.” Annie said. “Our biggest fear was that we had missed out on care that she may have needed. We were very lost and scared initially.”

Thankfully, a family member recommended they seek the expert care of Lurie Children’s Turner Syndrome Program, which helped turn an alarming, uncertain diagnosis into a more manageable, trusting experience for the family. While each case is unique, girls with TS often present with a combination of symptoms and physical characteristics, and in Rose’s case, that meant short stature, horseshoe kidney (a condition in which the kidneys are fused together forming a “U” shape at the lower end or base), and fluid buildup in her ears causing mild hearing loss. Due to her variety of symptoms and those she is at a higher risk of developing, Rose is seen by a multi-disciplinary team of experts at Lurie Children’s across endocrinology, ENT, nephrology, cardiology, gastroenterology and ophthalmology.

Today, Rose is 5 years old and thriving with love and support from her parents and care team and is seen on a 6–12-month check-in schedule. “We love all of Rose’s care team so much,” Annie said. “Dr. Reema Habiby was the first person we met on the team, and she was so warm and welcoming our first day. We had so many appointments and tests that day and she made sure to reassure us. She has been such an amazing resource for us and is always willing to listen to our concerns or give advice.”

Reema Habiby, MD, is Division Head of Endocrinology at Lurie Children’s and co-director of the Turner Syndrome Program alongside Wendy J. Brickman, MD. The program brings together specialists with clinical and research expertise across endocrinology, cardiology, otolaryngology, audiology, genetics, neuropsychology, nutrition, ophthalmology, and orthopedics to provide comprehensive care to pediatric patients. The multidisciplinary team considers all aspects of a patient's life to help them succeed, supporting everything from prenatal consultations to age-appropriate learning material and transitions to adult care.

Annie says Rose has been "amazing" through every single appointment, treatment, test, and procedure. “She does not know life is any different," she said. According to Annie, Rose doesn’t seem to bat an eye at her Turner Syndrome, growth injections or schedule of appointments, but she knows that as she gets older, it will be important to prepare her with the language to explain the condition to her peers and accept her differences with a positive outlook.

At present, she is happily enjoying being a kid despite her TS and is especially loving her new role as Big Sister!

In reflecting on Turner Syndrome Awareness Month and what she’d like others to know, Annie shared: “It's important to know that kids who have TS are just like any kid. They are strong, adventurous, creative, brave, silly, and kind. They may be a little smaller than their peers, or have to accomplish things in different ways, but they can do anything they put their mind to.