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Oregon mothers fight to raise awareness of adrenal insufficiency, a treatable, sometimes fatal disease
Posted on January 06 2016
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on December 13, 2011 at 4:50 PM, updated December 13, 2011 at 5:53 PM
ASTORIA -- Three and a half years ago, Tristan Norgaard arrived on this Earth 13 days early with a head full of red hair and gleaming blue eyes. He was a bit on the small side, but so far as anyone could tell, as robust as any healthy infant.
That changed quickly.
By week's end, Tristan was near death, saved only by a routine test that showed he suffered from congenital adrenal hyperplasia -- commonly referred to as adrenal insufficiency -- a disease found in one in every 10,000 to 18,000 infants, but one greatly misunderstood and frequently mistreated.
Now Tristan's mom, Kirsten Norgaard of Astoria, Jennifer Knapp of Eugene and Laura Adderholt of Georgia have founded Adrenal Insufficiency United, hoping to educate and raise awareness about a disease that can and does turn deadly -- often merely for want of a simple shot.
Already their work had begun to bear fruit. Just days ago, Norgaard learned that because of her efforts all seven ambulances in Clatsop County will carry the drug Tristan needs. Now, she plans to work on the rest of the state.
People with the adrenal insufficiency are unable to produce cortisol, the steroid made by the adrenal glands that help the body cope with stress. Without it, the victim can go into adrenal shock. The condition is also found in people suffering from other diseases, such as Addison's Disease, cancer, asthma and Type 1 diabetes, among many others.
It can be treated with regular medication, but when the body experiences higher than usual levels of stress -- for instance, in a car accident -- "stress dosing" is necessary. Tristan and about 75 percent of others with the condition are also unable to produce aldosterone, which leads to "salt wasting" or the loss of sodium.
This fall, through a chance conversation with some paramedics, Norgaard learned ambulances didn't carry the "Solu-Cortef" Tristan needs and without it, by the time he got to the hospital, he could already be permanently disabled. The Norgaards no longer have to worry about that.
But even hospitals and acute care clinics aren't always sure what they are dealing with, said Knapp, whose teenage daughter suffers from the condition.
"Even when people present at the hospital with this, a lot are not given the shot," she said. "A lot are not taken seriously. There are no standards of care for adrenal insufficiency."
Norgaard's first sign that all was not well with Tristan was at his first checkup when her Astoria pediatrician, Dr. Ram Madhavrapu -- known by colleagues and patients as simply Dr. Ram -- noticed he was jaundiced. Dr. Ram prescribed a "light bed" -- a sort of infant tanning bed -- but Tristan grew worse, vomiting constantly and daily losing weight. When Tristan was seven days old, Dr. Ram called Norgaard into his office.
"He hadn't lost weight for two days," recalled Norgaard. "He wasn't gaining, but wasn't losing. I was feeling great. As soon as we walked into the examining room, he threw up. My heart just sank. No, no, no. Why are you throwing up again? Dr. Ram said he had canceled all of his appointments for the rest of the day and that's when my jaw dropped."
View full sizeLori Tobias/The Oregonian
Tristan Norgaard, 3
The heel prick test -- a routine blood test used to detect various diseases in infants -- had revealed the condition, and Dr. Ram wanted to repeat the test to be sure. Normally, the test would go through a state lab in Salem, but it was a Friday and that meant they wouldn't know the results until Tuesday. If Dr. Ram was right, by then Tristan would be dead.
"In the old days before it went into the early screening test, kids used to die by the time we'd see then," said Dr. Ram. "It's that devastating. They go home very well. Probably anywhere within five to seven days, they can't produce the steroid, can't produce any stress hormones and they usually come in with dehydration and very moribund and die."
On that summer day in 2008, Dr. Ram repeated Tristan's test.
"Dr. Ram came into the waiting area," Norgaard said. "He was shaking his head with tears in his eyes. He said, 'We need to get to the emergency room now and save his life.' He was dying and we didn't know."
Today, Tristan is a rambunctious 3-year-old, given to much laughter and an abundance of energy. He gets medication daily, but even something as simple as teething can put him over the edge, requiring the "stress dose." Norgaard keeps a "Solu-Cortef" shot on hand at home. But she worries about that day when he falls or is in a car accident and medics aren't equipped to help.
Knapp has started a petition urging Oregon and other states to create Emergency Protocols for Adrenal Insufficiency. They are getting help from Adderholt of Rossville, Ga., whose 5-year-old daughter has gone to the hospital at least 75 times with the condition.
Knapp also plans to set up a booth at the National Association of EMS Physicians conference in Arizona in January to share information with medical care professionals.
"I am trying to survey people with adrenal insufficiency about their experiences and I am going to make a booklet about their stories," said Knapp. "The percentage of EMTs in the field and even physicians that do not know about it is high."
One mother who contacted Knapp said her daughter had three adrenal crisis episodes and was never diagnosed. No one identified her as being adrenal insufficient, and so she was never given proper treatment. One event caused her to be permanently disabled. She died at 7 less than a year ago.
"I try to explain it's like diabetics. They have to take insulin. People with adrenal insufficiency have to take a cortisol replacement. My daughter will die without her medicine just like a diabetic child will die without theirs."
-- Lori Tobias