In Recognition of Rare Disease Day 2017:
Congenital Adrenal Hyperplasia (CAH) – Fact vs. Fiction
Recently the condition known as congenital adrenal hyperplasia ...or CAH, has been misrepresented in the media thanks to the documentary “Gender Revolution: A Journey with Katie Couric,” which aired on National Geographic Channel. Roughly 300,000 people in America are afflicted with CAH, and about three percent of them have reported cases of genitalia that are not typically female in XX infants. However, this documentary provided misleading information by exclusively presenting CAH as an example of this condition, while also implying that anyone who has CAH has atypical genitalia. Today, in recognition of Rare Disease Day, CARES Foundation, the leading advocacy group supporting those affected with CAH and their loved ones, would like to set the record straight.
What CAH is:
CAH is an inherited endocrine condition occurring equally in both females AND males that places those affected at risk for life-threatening adrenal crisis events. Babies born with CAH have elevated levels of testosterone throughout gestation that decrease to normal levels with steroid treatment. CAH is a form of adrenal insufficiency that has no cure. Patients affected with the severe form of CAH will require life-saving medication for the rest of their lives.
What CAH isn’t:
CAH is not an intersex condition, nor is it the only condition that may cause a baby to be born with atypical genitalia. In addition, not all babies born with CAH experience this outcome.
What people should know:
The majority of babies born with CAH do not have atypical genitalia. However, families who have infant daughters born with atypical genitalia face a dilemma: opt for surgery to correct the issue during infancy or wait until their child is old enough to make this decision for herself. Families who opt for or against corrective surgery face potential criticism and backlash from those who share opposing views. When any source emphasizes this aspect in such a public way, it exploits those with CAH and worsens the situation for families who are already facing difficult circumstances and doing their best to make informed medical decisions for their children.
By solely focusing on the atypical genitalia aspect of the disorder, the viewing public has a one-sided view of a dangerous condition. What is of utmost importance to everyone with CAH is the need to educate patients, families and healthcare providers on how to properly treat patients with this life-threatening condition; there is a critical need to make changes to emergency response units to ensure they have protocols in place and emergency injectable hydrocortisone to treat patients in adrenal crisis. Those with CAH can face dire medical consequences if proper medication is not immediately available in times of physical stress.
The CARES Foundation’s spokespeople, Dr. Karen Lin Su and Dina Matos are happy to make themselves available to discuss CAH in greater detail and dispel any misperceptions. And in recognition of Rare Disease Day, the topic is timely. Please contact Dr. Su at email@example.com or Dina Matos at 866-227-2727 or firstname.lastname@example.org.
Thank you to Congressman Leonard Lance for participating in Rare New Jersey's Rare Disease DayCelebration! He continues to be a vocal champion for rare disease patients. We are grateful for his support!
Thank you to Dr. William Hait and Janssen Pharmaceuticals for hosting today's event!