When the pieces don’t fit

There’s a textbook for everything in medical school. Heart, lungs, brain, skin, everything has a specialty. In endocrine textbooks, the adrenal gland tend to have a relatively small chapter. In their defense, there’s a lot of hormones, and most common endocrine disorders are related to thyroid or diabetes. Diabetes is so common in the United States especially, that it is the most prevalent specialty within endocrinology.

Diseases of the hypothalamic-pituitary-adrenal axis are incredibly rare by comparison. Addison’s disease, the autoimmune destruction of the adrenal glands, is quite rare. It’s commonly referred to as primary adrenal insufficiency.

Increasingly common, however, is secondary adrenal insufficiency (SAI). This is a disorder of the adrenal glands caused by a disfunctional pituitary gland.

One reason for the increased prevalence of SAI is the abundance of steroid treatment for other illnesses, from allergies to lupus. Long term use of steroids has a risk of disrupting the HPA axis, and tricking the pituitary gland into believing it doesn’t need to produce adrenocorticotropic hormone (ACTH), the precursor to cortisol.

A result of the pituitary gland believing it’s services are no longer necessary is often that it completely forgets how to work, and as a result, it no longer produces ACTH, which is necessary for cortisol. If the ACTH is missing, the adrenal glands don’t think they need to make cortisol, so they don’t.

When a person stops using corticosteroids for their other illness, sometimes they find that they experience profound fatigue, low blood pressure, low blood glucose, and many other signs and symptoms of adrenal insufficiency.

It’s essential at this point that a person meet with their doctor to investigate potential SAI.

Keep in mind, SAI isn’t only caused by steroid use. It can be due to a pituitary tumor, pituitary damage, or sometimes an unknown cause.

Testing for SAI is tricky, because sometimes the adrenal gland still work, if they’re given the opportunity.

Standard testing, as laid out by Cleveland Clinic, has a pretty clear path to diagnosis. However, SAI isn’t always clear cut.

Sometimes a patient will have a low baseline cortisol, and despite that baseline, when given an extra large dose of synthetic ACTH, or cosyntropin, the adrenal glands respond appropriately.

That could look something like:

Cortisol baseline: 4.5

Cortisol 30 minutes: 18

Cortisol 60 minutes: 23

ACTH baseline: 5

If a patient has that inappropriately low cortisol as well as ACTH, then further pituitary function needs to be assessed.

The reality is, however, that many endocrinologists assume that any reasonable response of the adrenal glands rules out SAI.

For example:

Cortisol baseline: 3.4

Cortisol 30 minutes: 12

Cortisol 60 minutes: 16.8

Many doctors incorrectly assume that because the adrenal response is to more than double (or sometimes greater than 10 more than baseline) the cortisol response is accurate and they refuse to diagnose a patient.

There’s a clear cut set of diagnostic rules, and some old information floating around that leads these doctors to ignore clear diagnostic criteria, leaving many patients at continued risk of adrenal crisis and death.

When a patient finds themselves in a position where it seems like their doctor doesn’t understand, or that the pieces don’t quite add up, it becomes essential that they continue to pursue more testing and an eventual diagnosis. Your life very well could depend on it!

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What are the odds…

Over two years ago, when I first started really digging into why I felt so sick all the time, I went to our family doctor. If you’ve read my previous posts, you know that this doctor’s office neglected to follow up on my dangerously low cortisol, which delayed my diagnosis by more than a year.

Now, I find myself furious with this same office for the same reason, only this time they missed the signs in someone else: my husband.

You see, adrenal insufficiency is rare. So rare, in fact, that many doctors never see a patient with the condition. So what are the odds of this doctor seeing two in two years?

What are the odds of them being married to each other?

What are the odds that the patient made an accurate diagnosis twice?

What are the odds that yet another set of doctors would be clueless?

The answer: I don’t care!

The odds don’t change the fact that my husband and I both have adrenal insufficiency. The odds don’t change the fact that I fought hard to get my husband in to see an endocrinologist and get proper testing.

And the odds don’t change the fact that we found a primary care provider and an endocrinologist who are dangerously misinformed about treating this disease.

We have a long road ahead of us still to ensure my husband gets proper treatment, as it’s financially impossible to get him to my endocrinologist right now.

The odds don’t matter to us anymore. It’s just a reality. An ugly one.

*If you find yourself knowing something is wrong, don’t give up. We are our own best advocates.

April is Adrenal Diseases Awareness Month…

Did you know…

*Many patients have to fight their doctors to provide them a prescription for an emergency injection of hydrocortisone

*Many EMS crews cannot administer patient medications, despite the fact that not every ambulance is equipped with or allowed to administer Solu-Cortef

*Adrenal crisis can cause permanent damage to organs, and death within as little as 30 minutes

*In the event of a crisis, and the moments leading up to one, patients often find themselves so disoriented that they are unable to administer a multi step injection

*More funding needs to be put into research and development for a simple emergency injection, like an EpiPen

*Many patients suffer from complications from other illnesses which make absorbing oral medications difficult or impossible, yet they have to fight epic battles with insurance companies to adapt insulin pumps to administer Solu-Cortef instead

*Even with a modified insulin pump, there is no easy way to prep Solu-Cortef for use in the pump

*There is no cure for adrenal Insufficiency, and despite the growing numbers of AI patients, it’s considered a rare disease, therefore doctors rarely have knowledge about it

*Despite being categorized as “primary,” “secondary,” and “tertiary,” all AI is treated the same way, and carries the same risks. Just because it isn’t called Addison’s disease for every patient, doesn’t mean it isn’t life threatening

What’s an advocate?

When I think of an advocate, my first thought is someone who speaks up for a child during a custody battle, or a person who handles the daily needs of a person with a severe disability.

What I’ve come to learn over the last two years is that an advocate can be so much more versatile. One could hire an advocate for them, or one can become an advocate for themselves or others. I’ve become my own advocate, but also find myself becoming more of an advocate for others as well.

Turns out, I’m not the only person in my community who’s health needs aren’t being met. Over the years, I’ve become something of an expert patient. I know what lab tests should be run, I know how to interpret the ranges on those labs, and I know what can be done to make the next move for getting a diagnosis and help. I’ve seen at least three other people in my town of 7,000 run up against medical mysteries and doctors who don’t really care to dig any deeper than their old textbook on the shelf.

The problem comes down to a few possibilities.

First, that doctors just don’t have time to read new research. This is my least favorite excuse because as a teacher, I not only had to see all my “patients” at the same time, all day long, but my workload consisted of a lot of unpaid hours, for a much smaller salary than a doctor.

Second, that rare diseases just don’t have enough research available for doctors to make an informed diagnosis. Again, this is problematic because if I, as a non medically trained individual, can find the research to support my myriad of illnesses (and even how they function as comorbidities!) then the doctor certainly has access to the same information.

Third, the doctors practicing today are overburdened with expectations, legalities, and heavy case loads that they’ve stopped caring to go above and beyond. This is my best guess at what’s happening. I had a doctor, a general practitioner, tell me that if my endocrine journals disagreed with his conclusion that lab values were NOT acceptable, that I was free to find a new doctor. That was not my intention, just that this doctor be educated about his patient. Instead, the ego of the M.D. got the best of him. And there’s at least a dozen other doctors in my town who operate under the same premise that their M.D. is worth more than any research I could possibly find. Even if that research came directly from NCILB, Mayo Clinic, or Cleveland Clinic.

So, I’m an advocate. I don’t have a medical background. I can’t give medical advice. But I have experience, and as each medical zebra learns along the way, we all need an advocate. We need someone to look again and find the discrepancies in our lab work, the items which look fine-ish independent of the others, but combined show a problem.

An advocate is someone who can speak up for you when you’re too flustered, and tired of being told you’re just a busy parent, and your symptoms are nothing. Because as so many of us have learned, it’s not “nothing.”

Seeing the Invisible

When someone is diagnosed with cancer, entire communities rally together to provide support, whether it’s financial, food, or helping with errands.

But when a person is diagnosed with a chronic illness that isn’t cancer, there is often very little community involvement, nobody brings meals or checks in.

I’ve had several friends over the past year be diagnosed with life changing illnesses, anywhere from Hashimotos thyroiditis, Addison’s disease, Chrons, and multiple sclerosis.

While these illnesses aren’t often visible, and aren’t terminal in the same way cancer is, they can be equally devastating to a family.

This year, I challenge you to find a friend with a chronic illness and make a difference in their day. Don’t forget about them after the initial shock of the diagnosis. Don’t stop checking in on them periodically, and inviting them to do things even if you don’t think they can make it.

Invisible, chronic illnesses change a person’s quality of life, and it’s a very lonely road. Sometimes a simple act of kindness goes a long way!