I came to CARES a parent in 2001. I came with questions and fears; my first-born son having been diagnosed with SWCAH. I found answers and community. I also learned my son could have been one of the many who did not make it as he was born in a state without newborn screening for CAH. And so, I became an advocate.

In 2003, I volunteered my time and stood side-by-side with brave men and women who shared their stories and lent their voices calling for expanded newborn screening. I felt the thrill of victory and by late 2005 joined CARES as a part-time public affairs consultant. We worked on newborn screening initiatives across the United States and around the globe. Three years later, we celebrated universal, mandatory, newborn screening for CAH in the United States. We started a campaign for immediate, appropriate emergency medical response and have seen the map of coverage change. We met and discussed and advocated for better care through centers of excellence.

As of January 1, 2011, I will return to being a CARES parent; giving up my public affairs work to allow me to focus on a new, full-time job. I thank each and every one of you who has worked with me on newborn screening, EMS, and comprehensive care centers. I thank you for sharing your stories, reminding me that I am not alone, working to bring about change to improve the lives of individuals and families affected by CAH. It has been a glorious nine years and I look forward to many more.

If you have taken a moment to look at the CARES Foundation Emergency Medical Response Campaign webpage you will note a curious choice of words.  While the first few lines reference emergent treatment of “CAH,” it quickly is replaced by a phrase foreign to many within the CARES Community: “adrenal insufficiency.”  So what is adrenal insufficiency and why do we use such wording throughout our EMS Campaign?

Adrenal insufficiency refers to a group of medical conditions, all characterized by improperly functioning adrenal glands resulting in inadequate production of steroid hormones, most notably cortisol and in some cases aldosterone; two all-too-familiar names to those affected by CAH.  What many don’t know is that there are other individuals who suffer from impaired adrenal function: those affected by Addison’s disease, adrenal tumors, impaired pituitary glands or hypothalamus due to cancer or a head injury, and those on long-term steroids for conditions such as rheumatoid arthritis or transplant recipients.

CARES Foundation has never restricted its advocacy to “just for the good of the CAH Community” when there are others who can benefit from our work.  During the course of our campaign for universal, mandated newborn screening, we joined forces with other national disease support organizations calling for comprehensive screening.  Of course our focus and the area of our expertise is in CAH, however, we always strove for panels including all 29 conditions recommended for testing in the neonatal period by the American College of Medical Genetics and the March of Dimes.  In our campaign for pre-hospital treatment of CAH, we once again have built a coalition including the National Adrenal Diseases Foundation and Pituitary Network Association.

And as the saying goes, there is strength in numbers.  The salt-wasting form of CAH affect about 1 person in 12,000, Addison’s disease occurs at a rate of 40-110/million, and hypopituitarism 460/million. Without even adding in Non-classical CAH patients, those on long-term steroids for other conditions such as rheumatoid arthritis and organ transplant recipients, we can readily state adrenal insufficiency affects 1 in 1500.  All of whom are at risk of adrenal crisis, and for whom an immediate shot of Solu-Cortef® in times of illness or injury could mean the difference between life, disability, and death.

The campaign goes on…

Since our founding, CARES Foundation has worked tirelessly to ensure that every baby in America has a chance at a healthy start through advocating for expanded newborn screening including testing for CAH.  In 2008, we celebrated the fact that every child in the United States now is being screened for CAH at birth.  Having achieved this goal, CARES Foundation began to look at other ways we could work to ensure we keep our children healthy throughout their lives.  Of course, the holy grail is a cure, but in the meantime, there is so much we can do to improve the daily lives of individuals and families affected by CAH.

Over the years CARES Foundation had received calls time and time again from members sharing stories (Join the discussion: EMS Experiences) of the emergency medical system’s failure to provide immediate, appropriate care:

• A college student in Illinois who was ignored by EMS and ended up having to drop out of school due to a lack of care when she was ill.
• An adult woman in Arizona who spent an entire ambulance ride trying to give herself a shot; in the process depleting her O₂ levels to the point of needing three-days hospitalization to recover.
• The Texas family traveling in California who administered Solu-Cortef® before heading to the closest ER.  They then had to fight staff to get their rapidly deteriorating son a bed only to have to bang on the ER door to get a doctor as their son continued to vomit and became increasingly lethargic.  To their horror, the doctors then looked up CAH on the ER computer and decided to transport their son to a children’s hospital without any additional medications.
• In 2005, our newsletter even carried the personal story of a young woman who died in 2002 due to a lack of appropriate emergency care. And clearly nothing had changed by 2008, as evidenced by another member’s submission Adrenal Crisis and EMS: One Family’s story – the personal story of a member finding herself surrounded by nine trained professionals in a Denver hotel room and discovering none of them could help as her son rapidly slipped into adrenal crisis.

And so, when in mid-2008, our “Dona Quixote”, pediatric endocrinologist Susan Stred of SUNY Upstate Medical University in Syracuse, NY, posted an exasperated message on an endocrine listserv after one of her patients had been refused care and she just could not stand it any more, it was clear that the time had come for CARES Foundation to take action.

As evidenced by pleas from our members, having medical ID that reads, “Adrenal Insufficiency” on it, doctor’s orders that detail medical treatment protocols for adrenal crisis, or properly labeled medications are not enough if emergency medical responders do not have the necessary training, medications or permissions to administer a life-saving shot of Solu-Cortef®.  We are saving our babies and learning to care for our children.  We are working toward better treatments and a cure, but until there is a cure, those affected by CAH are still always at risk of adrenal crisis which requires immediate, appropriate medical response in times of illness or severe physical stress.

We began in New York with Dr. Stred and CARES New York Metro Area Support Group Leader and Board Member Debbie Brown. Thanks to the dedication and support of our members and advocacy partners across the nation, today we can say protections are in place in Rhode Island, Massachusetts, Maryland, parts of New York, Nevada and Texas, and the campaign goes on in another 13 states and the District of Columbia.  To learn more visit our campaign webpage, take four minutes to watch our campaign video, and view the campaign flyer.