The chlorinated air hangs heavy above the pool as Allyson slices through the water. With each powerful stroke, her muscles work in harmony. A swim coach and triathlete, Allyson has remained a staple at the pool since college. 

“I played sports during school and all through college, but swimming has been my favorite activity,” she says. Allyson was even on the swim team at Stony Brook University during her time there. “I love how I can push myself through the water and stay healthy.” 

What some people might not notice, watching Allyson tackle her swim practice, is the shot kit that she carries with her — not just to the pool, but everywhere she goes. Inside the kit lies hydrocortisone, alcohol swabs, and a syringe to be administered intravenously or intramuscularly if Allyson experiences an adrenal crisis. 

As someone who has lived with congenital adrenal hyperplasia (CAH), a rare and lifelong genetic disorder, since birth, Allyson must be constantly prepared to manage her body’s needs. CAH disrupts the cortisol production pathway; this hormone regulates numerous processes in the body, from blood pressure to glucose metabolism. Without intervention, the body diverts resources towards androgens that can create dangerous metabolic imbalances. 

But, she says with a shrug, “It’s the only life I’ve ever known.” 

In her interview with Rareatives, Allyson shared why she feels responsible to educate others on CAH, how she’s taken control of her health through sports and swimming, and why she feels CRENESSITY (crinecerfont), a recently approved medication for CAH, will bring so much benefit to the community.

An Early Diagnosis

For Allyson, a native of Garden City, NY, her CAH was diagnosed at birth. Unlike many rare disease narratives that begin with diagnostic odysseys, Allyson’s parents received clear answers immediately, which shaped their approach to raising their daughter.

“I’ve been fortunate that my family has always been very open to talking about my condition,” she reflects. “My parents always tried to explain to me what was happening and would encourage me to talk directly to my doctor at appointments. I am so grateful for their continued support.” 

Empowered to understand her health, Allyson developed a stronger understanding of what CAH was and what problems could arise. “CAH is a rare genetic condition that affects the adrenal glands and requires treatment with steroids to replace missing cortisol,” she explains. “Steroids are also used to control androgens, and some people require high doses of steroids to reduce androgen levels.” 

By the time Allyson started school, she understood the basics of her condition and could articulate it to others. And as she grew older, she could also recognize the warning signs that necessitated medical interventions. 

“I had to teach everyone around me – the people on my swim team, my coach, my friends – how to look for signs of potential crisis and how to give me an injection, if necessary,” she shares. 

A Deeper Dive into Congenital Adrenal Hyperplasia

CAH refers to a group of rare genetic disorders. According to the Mayo Clinic, the most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make proper amounts of hormones.

CAH is inherited in an autosomal recessive pattern, so affected individuals must inherit one mutated gene from each parent. Some CAH symptoms are due to low cortisol; others are due to high adrenocorticotropic hormone (ACTH) and androgens.

• The symptoms of low cortisol include low energy, nausea, dizziness and low appetite, which can result in adrenal crisis.
• The symptoms of high androgens include rapid growth, short stature, early puberty, irregular periods, infertility, acne, excessive facial hair growth and mental health issues.
• The symptoms of high ACTH include testicular adrenal rest tumors (TARTs) or ovarian adrenal rest tumors (OARTs).

CAH has no cure and people with CAH need to be treated for both cortisol deficiency, and ACTH and androgen overproduction. But many people with CAH live relatively normal lives with proper treatment to manage cortisol insufficiency and excess androgens. 

Learning to Manage Medication

CAH management requires consistent medication dosing, typically oral hydrocortisone (steroids) taken multiple times daily to mimic natural cortisol patterns. Steroids have been used to both replace cortisol and address excess ACTH and androgens. However, high doses of GCs are often required to manage the issue of excess ACTH and androgens. These high doses can lead to many short- and long-term side effects that can affect quality of life. Finding the right dosage can be challenging as it differs from person to person. 

As Allyson explains, “It’s important for each individual and their family to speak with their healthcare provider to determine a treatment plan and dose that is right for them. This is a lifelong process.” 

But managing CAH with steroids alone can be challenging, to say the least. “In my experience, there have been regular changes to my medication by my doctor based on my other medications and potential interactions,” she says. “Once my doctor found a dose that worked with my other medications, I stayed steady. However, CAH treatment can be a balancing act for a lot of people. It’s a tug-of-war between managing symptoms and side effects of high steroid doses.”

Enjoying an Active Life

For Allyson, finding the right dose and working closely with her doctors has allowed her the freedom to play in sports and other activities, which she considers “one of the greatest joys of my life.” 

According to a study conducted by Dr. Deborah P. Merke, M.D., and shared by the CARES Foundation, an organization dedicated to improving the lives of the CAH community and advancing quality healthcare, people with CAH: 

often love to exercise and are very active in sports. However, complaints of lack of endurance, tiring more readily than others, or just getting ‘wiped out’ are not uncommon. It is unknown if this is due to a lack of adrenaline and/or lack of an increase in glucose.

But Allyson, drawn to competitive swimming, refused to let her CAH stop her from doing what she loves. She still fondly reflects on the memories of her swimming tenure, including racing at junior nationals. 

“I’m forever grateful for swimming,” she says, referencing both her past and her continued commitment to coaching. “It’s brought me so much community. But I also know that if I’m not super healthy, my risk of having negative effects from my CAH may increase.” 

When you have a rare condition, people often have preconceived notions about your abilities or accomplishments. For some individuals, these stereotypes or misconceptions make them unwilling to participate in certain activities out of fear of being judged.

Allyson wants to combat this narrative. To others with CAH, she encourages them to feel more comfortable about their condition — but also to feel more confident in themselves.

“CAH is part of who I am,” she says as an example, “but it’s not the only thing about me. Don’t let anybody tell you that it’s the only thing about you, either.” 

A Call for Awareness and Understanding

When Allyson isn’t swimming or preparing for her triathlons, she participates in advocacy efforts. She’s an active member of the CARES Foundation and has been for years; her father was the second Foundation president of the Board of Trustees and one of their long-time members. 

“The CARES Foundation supports the CAH community through support, advocacy, education, and research,” Allyson explains. The CARES Foundation operates on multiple fronts: advocating for improved screening and clinical protocols, educating medical professionals about optimal CAH management, and funding research into new therapeutic approaches. Their comprehensive support network includes medical advisory boards, family conferences, emergency protocols, and research initiatives advancing knowledge around CAH. 

Through her father’s work and her own engagement with the Foundation, she has become increasingly passionate about advocating for CAH and sharing available resources to support others who, like herself, might be living with an incurable condition. 

She’s learned the importance of these resources and educational tools in her own life, where she’s seen a lack of understanding around CAH. Her friend, who is pre-med, hadn’t heard of CAH before Allyson mentioned it. Even as an adult, Allyson has stayed with her pediatric endocrinologist as she can’t find an adult endocrinologist in her insurance network that knows what CAH is. 

“In the future, I hope to see a much greater understanding of the condition among healthcare providers,” she says. Then, speaking directly to others, she adds, “And don’t let anybody not listen to you. Advocate for your own health or the health of your loved ones.” 

Renewed Hope

Perhaps most striking about CAH is how little treatment has evolved over decades. While numerous medical advances have transformed the management of other endocrine disorders, people with CAH have relied on essentially the same glucocorticoid, or steroid, replacement protocols for 70 years.

70 years. 3,652 weeks. 25,567 days. 613,620 hours.

But the wait is now over. 

In December 2024, the U.S. Food and Drug Administration (FDA) approved CRENESSITY, a prescription medicine used together with glucocorticoids (steroids) to control androgen (testosterone-like hormone) levels in adults and children 4 years of age and older with classic CAH. CRENESSITY offers a game-changing way to manage classic CAH that may allow people to reduce excess ACTH and adrenal androgens, while allowing for steroid dose reduction. 

“The availability of CRENESSITY as a new treatment option for CAH is exciting for the community given the ongoing treatment challenges that can come from using steroids alone,” Allyson says. “I’m hopeful that this recent approval will help to increase education and bring more awareness to those who aren’t familiar with CAH.” 

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To learn more about congenital adrenal hyperplasia, or to support research advancements and community needs:

– Read this helpful guide to CAH – including questions for your healthcare provider – from the Endocrine Society. 

– Donate to, or fundraise for, the CARES Foundation.

– Connect with the CARES Foundation on Instagram or Facebook