Rare disease patient with congenital adrenal hyperplasia finds hope with new research

Sophia Sinnett loves staying active. The 11-year-old is enthusiastic about outdoor activities like fishing, archery, hiking, and even has big dreams of becoming a zookeeper one day so she can work with animals. The one thing setting apart from other kids her age – Sophia lives with a rare condition called congenital adrenal hyperplasia, or CAH.

The condition only affects 1 out of 15,000 children nationwide, but it requires lifelong multi-specialty care, like many other rare diseases. In the United States alone, more than 7,000 rare diseases exist, according to the National Organization for Rare Disorders (NORD). Together, they affect 25 to 30 million Americans and their families.

Diagnosed with CAH at birth, Sophia is making the most of her life with careful, monitored care from rare disease experts with the Center for CAH at M Health Fairview Masonic Children’s Hospital, which is one of only 31 hospitals nationwide named a Rare Disease Center of Excellence by NORD.

“It hasn’t held her back from anything,” said Sophia’s mom, Karen Fawley.

A scary diagnosis leads to finding expert care

When Sophia was diagnosed with congenital adrenal hyperplasia, no one in her family had ever heard of the genetic condition.

Congenital adrenal hyperplasia occurs when the two adrenal glands – located on top of the kidneys – don’t work properly. This disrupts the body’s ability to make three important hormones: cortisol, aldosterone, and androgens.

Cortisol is an important stress hormone that can affect glucose and blood pressure regulation, energy, mood, and even your body’s response to illness. Aldosterone regulates the amount of salt and water in the body. Androgens, like testosterone, are a group of sex hormones needed for puberty, growth, and development in all children.

Sophia has the “classic” form of the disorder, sometimes referred to as salt wasting congenital adrenal hyperplasia, which is the most severe form and could be life-threatening if not managed properly.

“Babies with classic CAH are most often diagnosed during routine newborn screenings,” said Lynn Schema, GC, an M Health Fairview genetic counselor who is part of Sophia’s care team at the Center for CAH. “As a genetic counselor, I work with families to help them understand what the genetic testing means while providing emotional support for them.”

During these meetings, parents are often shocked to learn one or both of them carry the gene leading to the disorder. That was the case for Sophia’s mom when they first learned of her disorder.

“It was a very scary diagnosis to hear,” said Fawley. “Finding out that it was genetic, there was definitely some mom guilt. But I wouldn’t change anything about her.”

During the initial appointments after her birth, Sophia’s family found out they would need to start treatment immediately to ensure she had the best possible start in life.

Though the family sought care initially with another health system, they soon began looking elsewhere for more advanced care Sophia would need as she grew older. That’s when they found Kyriakie Sarafoglou, MD, a pediatric endocrinologist with M Health Fairview Masonic Children’s Hospital and associate professor with the University of Minnesota Medical School. Sarafoglou specializes in care for children with congenital adrenal hyperplasia. As a medical school faculty member, she also conducts research that sets new standards of care for conditions like CAH and helps train Minnesota’s next generation of endocrinology doctors.

“CAH can affect many aspects of a growing child, from height, weight, bone maturation, puberty exercise endurance, and sleep,” Sarafoglou said. “By seeing a large number of patients in a CAH specific clinic, we can better identify patient patterns and their needs to improve outcomes.”

Sophia takes a liquid form of hydrocortisone four times a day orally as well as a medication to regulate her bone growth and prevent premature puberty and development. While the medication is meant to replace the cortisol that the body does not produce in patients with CAH, treatment is not one size fits all and needs to be adjusted as the child grows. That means it’s important for Sophia to have regular check-ups in the M Health Fairview Center for CAH in case her dosage needs to be adjusted.

“It’s a really delicate balance between the negative effects of CAH and the effects of too much or too little hydrocortisone we are constantly working to manage. Not one child grows or responds to therapy the same way and it’s why I focus on personalized treatment for all my patients,” Sarafoglou said.

“I’m so grateful we found Masonic,” Fawley said. “We’ve received such great care here. I recommend it to anyone and everyone I know.”