Care that connects the dots

Rare diagnosis gives Anna's parents the answers they needed

“It’s never fun taking your kid to the hospital, but taking your child to Cook Children’s is special.” – Sarah Diamantopoulos, Anna’s mom

Even in pregnancy, Sarah and JD Diamantopoulos knew their daughter, Anna, would be different. Doctors were concerned about several things, including Anna’s lack of growth and a hole in her heart. At birth, Anna was tiny, but otherwise healthy. It wasn’t until she stopped growing normally at 9 months old that her parents returned to Cook Children’s to see how to help Anna thrive.

Here, a gastroenterologist worked with Anna’s parents to help her gain weight. Due to affected speech and mobility, she attended speech therapy, physical therapy and occupational therapy. She was evaluated by a geneticist. And a recent surgery corrected the exotropia (an eye misalignment) in both Anna’s eyes. With so many appointments, one doctor lovingly referred to Anna as a “Cook kid.”

“It can be really overwhelming when you have a lot of appointments,” Sarah said. “When one of Anna’s doctors looked at us and said, ‘Anna is just going to be a Cook kid,’ it was important. We know that she is going to get care here no matter who we need to see, what might change or what might happen. Even before we had a diagnosis, her needs were taken very seriously and thoughtfully. Her entire team communicates with each other and works together.”

Although Anna made huge strides in her medical journey, there was still no clear answer about what her symptoms meant.

Adamant to continue advocating for her daughter, Sarah expressed her concerns at a regular appointment with Anna’s Cook Children’s pediatrician, Daphne Shaw, M.D.

“Every time we went to the doctor, we were holding these yellow flags, not necessarily big red flags,” said Sarah. “These small things that all add up are still big things, though. Dr. Shaw validated everything we were going through. When I asked if there was something that could be connecting all these dots, Dr. Shaw said, ‘Let’s figure it out!’”

In April 2022, Anna saw a geneticist, in hopes of finding the answers her family was so desperate for. It was then that they finally received a diagnosis: ZTTK syndrome (ZTTKS), a rare disease caused by a genetic mutation that affects the growth and division of cells. There are less than 200 documented cases of the condition.

“When the geneticist called and said, ‘We found something that is Anna!’ it was mind-blowing,” Sarah recalled. “I just kept thinking that we could test her until she’s 20 years old and beyond and never find something. The ZTTK diagnosis was a relief because it connected all the dots.”

While it’s labeled as an intellectual disability, ZTTK manifests itself differently in every diagnosis. Anna is on the higher-functioning side. Her team of doctors continue to learn how Anna’s syndrome affects her, and they are on track for figuring out where she is intellectually.

Through the dedication of the Cook Children’s staff, Anna finally had a diagnosis of her unique developmental needs. The diagnosis confirmed that Anna’s care plan was on the right track, which was comforting to her family. Her care team knew what would be best for her, even before they uncovered the true cause. Anna continues to work with an array of specialists, including speech, physical and occupational therapists, as well as a gastroenterologist and geneticist.

“When you walk into Cook Children’s, it’s just as overwhelming for the parent as it is the kid,” Sarah said. “[The staff] works hard with us to make sure we understand what is going on and how to make it a little easier. It’s never fun taking your kid to the hospital, but taking your child to Cook Children’s is special.”

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