Our Diagnostic Journey Continues

The diagnostic journey for someone with a rare disease averages 5+ years. And I purposefully used the title "Our" because it goes beyond the patient and to the entire family throughout that journey and to the specific diagnosis.

Last time I wrote we were just admitted to the hospital with an idea of an endocrine disorder and an angel who informed me of what life with Addison's Disease may look like for our son. That night I lay awake in the hospital listening to the beeps and sounds monitoring that our boy was stable, not okay - as things were far from okay. The only thing he had been given at this point was an IV for fluids, as they did not want to treat anything and interfere with the testing that would be happening in the morning. I did, what all moms in their child's hospital rooms in the middle of the night should NOT do and I consulted Dr. Google. I bravely typed in Addison's Disease, fairly sure that it would reiterate what that kind doctor had said, but wanting to know more, wanting all the answers. The first two facts - Addison's Disease is more common in dogs than in humans and JFK had Addison's Disease. So, the way I saw it his life would be somewhere between a four-legged animal and President of the United States - that cleared things up a lot....

Let's look into those things first. Addison's Disease is more common in dogs and is easily treated in dogs - probably because it is all about cortisol (the body's stress hormone) and most dogs do not live a very stressful life. Dogs are medicated once a month and can live a relatively normal life. JFK's situation was a lot more complicated. First of all, had the public known that he had a life threatening, autoimmune disease he most likely would not have been elected to his position. This was handled in spinning the situation and stating that he most likely had Addison's caused by tuberculosis (the most common cause of Addison's in some parts of the world) and apparently a lot less scary to the public at that time. It was brushed aside. As far as his life with Addison's - he lived in a lot of pain, he slept a lot, he had people to do a lot of his work, he took a lot of medication (and cannabis) to manage symptoms, and his father had lock boxes in every major city in the United States with his emergency medication in it just in case. In others words, he did not live a happy, healthy, care-free life.

Back to our situation, by the next morning our son was so sick he could no longer get out of bed to use the bathroom or even sit up on his own. Labs were drawn at 8 a.m. to start the testing for Addison's. I would come to find out that the 8 a.m. blood cortisol test is the standard starting point for testing for any kind of adrenal insufficiency (which Addison's falls under). The range that is expected at this time, when cortisol is expected to be at the highest is between 5 and 25 - our son's was 1.2, To put this in perspective you cannot live without cortisol - it helps the body regulate blood pressure, blood sugar, metabolism, weight and appetite. At this time our son, who had been losing weight in the previous months was 5' and weight 72 lbs. It was then recommended that a STIM test be performed next to tell us the specific kind of adrenal insufficiency and a CT of his adrenal gland to assure us there was not a mass on the adrenal gland.

I am going to get a little "sciency" here for a minute. The pituitary gland in the brain produces ACTH to tell the adrenal glad that there is a situation requiring more cortisol and a healthy working adrenal gland responds by producing that cortisol. If the adrenal gland is not working the pituitary gland just keeps producing ACTH in hopes of the adrenal gland finally producing cortisol and responding to the perceived stress to the body/brain. In the test that was preformed next his cortisol was again taken (and again 1.2), then they administer man-made ACTH to simulate a stress response from the pituitary. Thirty minutes later they look at his cortisol again and it read a measly 1.5, and at sixty minutes it was back to 1.2. This all meant that his adrenal glands were for all essential purposes dead. In addition to show how hard his pituitary had been working, his ACTH which would typically be between 1 and 60 was 6500 at this time. Thankfully the best piece of news (other than finally having a diagnosis) was that this CT was clear.

We had an official diagnosis - Primary Autoimmune Adrenal Insufficiency, also known as Addison's Disease.

While less than 10 percent of rare diseases have FDA approved treatments or cures we were lucky - his did. The treatment (no cure though) was steroids for life. Hydrocortisone is the steroid that most closely resembles the cortisol that the body is no longer able to make and is what most patients are placed on at diagnosis (there are other possible steroids that can work as replacements). Our son would be taking this three times a day (at least) for life, but he would live. In addition to the cortisol replacement, by the time one is diagnosed with Addison's Disease it is estimated that 95% of the adrenal cortex is destroyed. Aldosterone is also produced here. Aldosterone is another essential hormone - this one balances the electrolytes in one's body - protecting your kidneys and preventing dehydration. Our son's labs indicated that he was in desperate need of fludrocortisone to replace this too.

All treatments started the next day and within hours he was feeling so much better. The adults closest to him were put in a training on the 14-step injection needed to save his life in the event of a crisis. An adrenal crisis is when the body is depleted of cortisol and aldosterone or their replacements and begins to shut down. Adrenal crisis in the leading cause of death for people with Addison's Disease. There was a lot to wrap our brains around, a lot to learn, but for now we had answers, and we had our son!

After one full day on the medication, we were discharged from the hospital. He had friends and family visit while there, but there was nothing that would measure up to being home, to sleeping in his bed, to being back to his dog, who would become his biggest support in the next few years.....his Buddy.