Marion girl diagnosed at Stead Family Children’s Hospital with rare condition

When Charley continued having symptoms in January 2018, her primary care physician continued to test her for a variety of conditions. When he tested her for hypothyroidism and determined she had elevated thyroid-stimulating hormone (TSH) levels, he again referred Charley to the endocrinology department at Stead Family Children's Hospital.

She was immediately seen in pediatric endocrinology by Liuska Pesce, MD, who recommended more tests. Once the appointment ended, Becky received a call from Dr. Pesce.

"She said, 'I think we figured it out,'" she recalls. "It's Addison's disease."

Addison's disease, a rare condition in which the body does not make enough of certain hormones, can be life-threatening without treatment. Also known as primary adrenal insufficiency, the adrenal glands make too little of the hormones cortisol or aldosterone.

The disease is thought to affect just 100 to 140 out of every 1 million people, and is even more rare in children, affecting an estimated 1 to 4 per 1 million children.

"It was great to have an answer," Becky says. "We had a way to at least move forward."

While Addison's disease has no cure, Charley takes steroid medication three times daily to replace cortisol her body does not produce. Becky has only found one other person with Addison's disease in the area, a teacher who was diagnosed after Charley was.

For Becky, the diagnosis helped explain months of symptoms that had been difficult to understand.

"I had never heard of it before and never knew anyone with it," Becky says.

Now 14 and a freshman in high school, the Marion teen stays active in softball, volleyball, swimming, and basketball. She also enjoys baking and cooking, writing poetry, and babysitting her cousins. Someday, she hopes to work in a hospital, possibly in pediatrics.

Charley is interested in spreading the word about Addison's disease and has even done a podcast on the subject for her school to help educate others.

"She always wants to help others," Becky says. "She has a kind heart and is full of life and energy."

Charley's parents say they remain grateful for the unwavering support from her care team.

"Without Stead Family Children's Hospital, I do not know if my daughter would be here today," Becky says. "I just feel like they are always looking out for her best interests, not just endocrine, but her overall health."