Student promotes awareness of rare disease - his own

For one Columbia Falls Junior High School student, getting the word out about a rare disease is more than a public service — it could mean life or death.

Owen Shipp, 14, has a rare congenital disease called adrenal insufficiency disorder. Because of a missing gene in his chromosomes, his body can’t produce adequate amounts of steroid hormones, particularly cortisol.

If he is under unusual stress, such as a car accident or severe infection, his body could go into adrenal crisis and death could quickly follow.

But calling for an ambulance isn’t a simple solution, Shipp’s grandmother Shirley Shipp points out. Emergency treatment for adrenal crisis calls for an intramuscular injection of a medicine that costs about $8 and has a long shelf-life, but EMTs are not allowed by law to give injections. It has to be done by a full-blown paramedic, and some volunteer ambulance services don’t have paramedics on board. And in many states, ambulances don’t carry the needed medicine.

That’s why Shirley, who is raising Owen, formed a nonprofit organization called Adrenal Insufficiency Montana, which is affiliated with a nationwide group called Adrenal Insufficiency United.

“It’s an undertreated disease, and we need more awareness about it,” she said.

Shirley points out that when Owen was born at North Valley Hospital in 1999, newborn screening wasn’t required for adrenal insufficiency. Following passage of a federal law in 2008, the screening is now required.

Good news for locals came about seven years ago when a doctor in Utah who specializes in adrenal insufficiency started making trips to the Flathead at three-month intervals. Owen’s daily medicine costs about $30,000 a year, and the family has good health insurance, Shirley said, but she’s concerned about what will happen when Owen turns 18 and leaves home.

One of the odd effects of adrenal insufficiency manifested itself when Owen was four years old and he went into puberty. He also has autism spectrum disorder, but there’s no direct connection between the two diseases.

Owen likes drawing and has made several videos for school projects. He also maintains a blog and posts videos on YouTube that promote awareness of adrenal insufficiency.

Shirley will travel to the Fire Chief Symposium in Corvallis on June 13-15 to spread the message. Owen is lining up funding for a trip to Washington, D.C., in December as part of the Global Genes Project, which will lobby Congress on behalf of rare genetic diseases.

For more information, visit online at www.facebook.com/pages/Adrenal-Insufficiency-Montana. To view one of Owen Shipp’s videos, visit online at www.youtube.com/watch?v=V_rRHjClfc8.

To donate to Owen’s trip to Washington, call Shirley at 897-4654.