For many years, Kailynn McNally suffered from several symptoms and complications that seemed unconnected. It wasn’t until she was 9 years old that her doctors at UPMC Children’s Hospital of Pittsburgh were able to connect many of her symptoms and confirm a diagnosis of Ehlers-Danlos syndrome (EDS).

Ehlers-Danlos syndrome is a group of inherited disorders that affect the connective tissues — primarily the skin, joints, and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in the body. There are 13 official subtypes of EDS characterized by different features, but the common features shared by many of the subtypes are joint hypermobility and soft, velvety skin that is highly elastic and bruises easily.

To understand the variety of different symptoms doctors were able to thread together to get the ultimate diagnosis of EDS, it’s important to go back to the beginning of Kailynn’s life.

A Series of Surgeries Before Age 5

Kailynn’s mother, Brittany Black, had a relatively normal and healthy pregnancy. When Kailynn was born, her doctors found that she had clubfoot, a fetal anomaly that occurs in one to three of every 1,000 newborns.

As a baby, Kailynn experienced several gastrointestinal issues including gastroesophageal reflux disease (GERD) and chronic constipation. At 3 years old, Kailynn experienced intussusception, a condition where a part of the intestine folds like a telescope into an adjacent part of the intestine.

This brought Kailynn and her family from their hometown of Stratton, Ohio, to UPMC Children’s. Here doctors were able to use a high-pressure enema to fix the intussusception. After a week at the hospital, Kailynn and her family returned home.

Kailynn also developed several hernias after her first birthday, including an umbilical hernia. An umbilical hernia occurs when the opening in the abdominal wall where the umbilical cord exits the abdominal wall, fails to close. Many types of hernias in children will heal on their own over time, however, Kailynn’s did not. And with her connective tissue disorder (undiagnosed at the time) her hernias actually got worse, requiring surgery at Children’s when she was 4 years old.

The very next year, Kailynn was at Children’s again for another surgery – this time to repair her club feet. Both of her legs were broken and then angled outward to heal. Kailynn used a wheelchair for about three months to recover.

Connecting the Dots for a Rare Diagnosis

For the next several years, Kailynn continued to grow and develop, though she always has been small for her age. “She has always been on the small side. Between the 1st and 3rd percentile her whole life,” said Brittany. Kailynn has also struggled with chronic fatigue and pain as well as hypermobility of her shoulders, fingers, hips, and other joints. A hypermobile joint can bend beyond the typical range of movement. Each of these seemingly unrelated symptoms would eventually come together as pieces of the EDS diagnosis puzzle.

In 2020, after suffering from chronic urinary tract infections (UTIs) and kidney infections, Kailynn was transferred to Children’s for a particularly bad kidney infection. It was here that doctors figured out that she was dealing with vesicoureteral reflux (VUR). VUR is a condition in which urine flows backward from the bladder into the ureters during urination, often causing recurrent UTIs. Kailynn’s doctors determined that surgery would be the best option to prevent further damage to her kidneys.

“This was about the time when doctors were able to finally start piecing things together,” said Brittany.

Around this time, Kailynn experienced an incident where she completely lost control of her bowels. When they went to her pediatrician with this information, she suspected tethered cord syndrome, a rare neurological condition that can sometimes come with incontinence. She referred her to a urologist and rheumatologist at Children’s who were ultimately able to rule out tethered cord syndrome.

“At that point, we had specialists from urology, rheumatology, gastroenterology, neurology, cardiology, all talking together,” said Brittany.

It was this multidisciplinary problem solving that ultimately led doctors to consider EDS and then to a geneticist who could confirm the diagnosis.

“With rare disease it’s kind of hard to figure out what’s going on,” said Brittany. “But all of our doctors have been so great.”

And of course, this was also the time when the world was just entering the global pandemic that is COVID-19. And with an already compromised immune system, times were even more challenging for Kailynn and her family.

“We’ve Got to Think About the Zebras Too”

At 11 years old, Kailynn loves horses and being outdoors. She is also a very talented artist whose drawing skills far surpass her age. She participates in occupational therapy that allows her hands to help her continue pursuing her passion.

Near the end of our interview, Brittany shared a famous saying that doctors are often taught: “When you hear hoofbeats, think horses, not zebras.” This means that a doctor should first think about what is a more common — and potentially more likely — diagnosis.

“But with rare diseases, we’ve got to think about the zebras too,” says Brittany.

For Kailynn – and many others diagnosed with a rare disease – it was critical that her doctors consider the zebras to ultimately diagnose her with EHS and create an effective plan for treatment and management.

As for Kailynn today, Brittany says that despite all of the challenges she is still a happy, active 5th grader.

“She always has a smile on her face, she’s always upbeat. You would never know that she’s been through the ringer.”