Melanie Gander, mother of a son with congenital adrenal hyperplasia (CAH), and Ambassador with Neurocrine Biosciences, discusses her son’s diagnostic journey with congenital adrenal hyperplasia (CAH).
CAH refers to a group of genetic conditions that affect the adrenal glands. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems.
Following the birth of her son, Ms. Gander explains that everything was normal. He was eating well and gaining weight as usual. It was not until their newborn follow-up appointment, where his newborn screening results showed slightly elevated markers for CAH, that there were any concerns. The family was then prompted to redo the newborn screening panel, where his levels came back significantly higher for CAH. However, he still showed no signs of disease.
Subsequent metabolic and electrolyte testing, including assessment of 17-hydroxyprogesterone (17-OHP) led to an official diagnosis of CAH, at which point he was started on treatment, even though he showed no signs or symptoms of the disease.
Her son, now 16 years of age, is taking hydrocortisone and following recommendations from the UK that dose 4 times per day following the circadian rhythm. He also takes fludrocortisone to retain sodium levels and started a new treatment a year ago that helps decrease androgen levels and allows for a lower dose of steroids.
Ms. Gander believes her son has a milder form, noting that they have been very lucky in terms of receiving a quick diagnosis and only experiencing a few crises where injection was necessary.
Ms. Gander stresses the importance of advocacy and better knowledge of CAH. There have been many instances where physicians don’t understand the burden of disease on the patient and caregiver, and where paramedics have not understood the disease and what to do in a crisis. She has worked to increase awareness through talks with EMS and implementing protocols for CAH.
To learn more about CAH and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/
