When Rachel Matthews birthed her twin boys, Aiden and Gavin, she was ecstatic. But just a day or two after Rachel had returned home with her boys, she received a concerning call. As ABC3340 reports, the newborn screening panel showed that both Aiden and Gavin had congenital adrenal hyperplasia (CAH), a rare genetic disorder that affects the adrenal glands. 

After some testing, the diagnosis was confirmed. At first, shares Rachel, she was scared. The doctors who spoke with her stated that CAH could be severe and even deadly without treatment.

Despite their diagnosis (even rarer considering the fact that the fraternal twins share the same genetic mutation), Rachel now knows that it is possible for her twins to live a happy, healthy life. Currently, both boys are being treated with medication, like corticosteroids, to help replace deficient hormone levels. It was challenging when they were diagnosed with COVID-19, but both boys have made a full recovery.

Rachel is now sharing her story to raise awareness of CAH and other rare diseases. She believes it is not only important for people to understand the prevalence of rare diseases (affecting over 300 million people worldwide), but for people to embrace kindness and compassion when interacting with others. 

About Congenital Adrenal Hyperplasia (CAH)

As described above, congenital adrenal hyperplasia (CAH) is an inherited disorder characterized by enzyme deficiencies affecting the adrenal glands. Normally, the adrenal glands produce hormones that aid in blood pressure regulation, metabolism, immune support, and more. However, the enzyme deficiencies prevent the adrenal glands from performing properly. As a result, the adrenal glands fail to produce enough steroid hormones like cortisol. While rarer enzyme deficiencies can and do occur, around 95% of CAH cases are caused by 21-hydroxylase deficiencies. 

CAH may be considered classic or nonclassic. In the latter form, symptoms are typically mild; the condition may not even manifest until late childhood or early adulthood. Symptoms associated with nonclassic CAH include:

• Irregular or absent menstruation
• Early pubic hair growth
• Excessive facial or body hair
• Severe acne
• Rapid growth during childhood, culminating in a shorter-than-average height

Alternately, classic CAH is the more severe form. Typically, symptoms are detected in infancy. These may include:

• Excess male sex hormone
• Short stature
• Early puberty
• Salt wasting and dehydration
• Diarrhea
• Abnormal genital development
• Cortisol deficiency causing blood pressure and blood sugar issues