My Story: Two Babies, One Unexpected Diagnosis

Briana and her husband have two children, Aiden and Avi, who were 10 and 8 years old when Briana learned she was pregnant in December 2022. She states, “It was right before Christmas when we learned we were expecting twins. So we surprised all our family on Christmas Day!”

Briana had the routine blood tests and results came back with an indication of something atypical with an X chromosome, but nothing more definitive of what it might be. “We went to a geneticist who mentioned Turner syndrome, but also mentioned Klinefelter Syndrome (somewhat like Turner syndrome but for males) and Triple X Syndrome. We didn’t know if both twins were affected or just one of them.”

The Path to Diagnosis

“From there, I had my first amniocentesis in late February, 2023. We were able to find out the genders of our twins from this amniocentesis – Twin A was a boy (Bodhi) and Twin B was a girl (Lyla).There was blood in the sample of Twin A, so that one failed. And with new ultrasound findings, the doctors had concerns of trisomy 18. So at this point everyone’s attention was focused on Bodhi. They did not confirm the Turner syndrome finding on Lyla at this time, although it was seen in my medical notes from the appointment.

I went for a second amniocentesis where it was found that Bodhi was in the clear, and the focus turned to Twin B – revealing that Lyla had mosaic Turner Syndrome, and 20% of her cells were abnormal.

My husband and I were so confused. We were obviously nervous because we didn’t know what it really was and what it meant for her.” Briana delivered her twins on August 1, 2023.

The Twins’ Early Progression and Turners-Related Complications

As to developmental differences between the twins, Briana said “Our son Bodhi has always hit the physical milestones first. He was the first one to sit up on his own, to start crawling, and to stand up. But despite Turner syndrome, our daughter Lyla was the one that seemed to be able to talk a little bit better.” It is of note that research shows that girls with Turner syndrome typically have verbal strengths such as verbal comprehension, expressive language, and verbal reasoning.

Briana continued, explaining that “Lyla is doing really well, although she’s had some ENT troubles. She had to get ear tubes twice. She had a sleep study done in September. Then in December 2025 she had her adenoids and tonsils removed due to them being enlarged and causing an obstruction resulting in sleep apnea. We believe these issues are related to Turner syndrome.”

Sharing the Diagnosis with Family

As to speaking about Turner syndrome to her older children, Briana shares that “We did tell our big kids that Lyla has a diagnosis. We had so many ultrasounds and appointments while I was pregnant and then once she was born, so we explained that Lyla requires close monitoring and more doctor appointments due to her Turner syndrome.”

When it comes to finding care, Briana says that it is an all day trip because “We started going to the Turner Syndrome Clinic at Children’s Hospital of Philadelphia last year. So I always tell my big kids that ‘Lyla and I have to go down to Philly today, so we’re probably not going to be home when you both get back from school today’.” Specialized Centers of Care like this are a great resource for families as patients can see multiple specialist providers during one visit, although travel is often required due to them typically being located in major metropolitan areas.

Briana knows that soon her daughter will realize that she has more medical appointments than her twin brother, especially if growth hormone injections are part of her routine treatment. “As she gets older, I’m worried about this;” she adds.

Connecting With Other Families Affected By Turner Syndrome

As far as meeting other parents and patients, Briana has benefitted from the Spring Fling for Turner Syndrome event at the Children’s Hospital of Philadelphia. Meeting other families is a great way for parents to find support and gather information from others’ experiences, as well as for their daughters to connect with friends who they can relate to. Parents are encouraged to join TSF’s Star Sisters online support community to get involved in our private Facebook group and monthly virtual meetups.

As far as learning more about Turner Syndrome, “I would definitely suggest viewing the webinars that the Turner Syndrome Foundation has,” Briana emphasizes.

Final Thoughts

Briana says that navigating the diagnosis “Was overwhelming at first, and there are still moments where it feels that way with all the medical appointments and thinking about what’s ahead. But finding the Turner Syndrome Foundation, seeing their webinars, and getting more involved has helped me learn so much and become more confident advocating for my daughter.”

The Turner Syndrome Foundation is here to be a resource for all parents and patients living with Turner syndrome to find community, get the information they need, and more. You can support this mission by becoming a monthly donor in the 1938 Collective.