Components of Stress Management with NCAH

Since with NCAH the adrenal glands are unable to naturally produce enough cortisol, stress management is an important component of living with NCAH.

Even though the intent is for the corticosteroid medication to help the body achieve normal cortisol level production, managing stress well helps keep the body's need for cortisol low, and has a variety of other health benefits. As I stated earlier in my post about taking my medication, having low cortisol decreases the body's ability to handle stress, so if you have trouble remembering to take your medicine, stress management would be critical for you.

There are a huge number of articles on the internet about coping with stress, some better than others, so I won't rehash the topic as a whole. Instead let me talk about some techniques I have used to help me cope with stress and how successful the various techniques have been.

1) Exercise

This is a component of stress management that I have not used consistently over time. I do feel better though when I exercise, and my husband reports that I seem happier when I am more consistent with my work out routine. Sometimes the fact that I have missed exercise is a source of stress for me, and so I am working on finding exercise routines that are fun for me and not worrying about an end goal for the exercise (like stress mangement or weight loss, etc). My hope is that if I find the exercise itself rewarding and enjoyable, then I will be less likely to miss it. The principle behind this is intrinsic reward vs external reward. We eat or sleep largely because the activity itself is enjoyable and positive and we want to do it, the fact that eating well and getting enough sleep is good for our health is an external reward. Today for example I tried out a new cardio dance routine. It was pretty intense, but overall pretty fun, and I'm interested in doing it again, so maybe that can be one of my exercise routines. We will see.

2) Cognitive Therapy

This is a component of stress management that has been critical for me over the years. A good therapist can help you identify what is causing you stress or help you better understand the root issues behind stressful things. They can also help you realize when you are causing stress for yourself (for example, they can give you a different perspective on what someone said if you're feeling hurt or angry when perhaps there's an explanation for what was said that doesn't cause you stress). They can also help you realize when you need to take breaks and help you find other stress relieving activities to keep yourself well. I highly recommend working with a therapist if you struggle with stress management.

3) Medititation

This is a component of stress management that I do not use as consistently I would like, but one that I am working on using more. There is a lot of evidence out there to support meditation to improve health and cope with stress. There are several ways of meditating, and one I particularly like is guided meditation, where you listen to someone guiding you through a meditation routine. I find that my mind wanders a lot less with this meditation technique and I end up more relaxed and positive.

4) Laughter

This is actually a component of stress relief I have only really come to appreciate over the last week. I realized I wasn't laughing that much, and when I was watching a new show and laughing hard enough I got a stitch in my side, I realized how much better I felt when I was laughing frequently. Since that realization I have made an effort to look for more excuses to laugh, and I am feeling so much better. Laughter has a huge number of health benefits as well, so it's fun and awesome for you.

5) Perspective

This is a component of stress management that deals with shifting how you feel about stress. We often speak of stress, and I certainly have in this post, as a negative component of our lives. We can can also look at it and see the benefits of our stress reaction. Being stressed can give you the physical strength or run or fight if you were attacked. When I worked in the Emergency Room, my stress response helped me work with critical patients for hours without fatiguing to the point where I would need a break until the patient was safely under another's care. Stress is not the enemy, and studies have even shown that the negative effects of stress on things like our blood pressure is lowered in people who view stress positively.

Coping with stress is a personal thing, and these techniques have helped me manage it better, along with taking my medication regularly. When my stress is better managed I am a happier person to be around, I have more energy, and I don't get sick as often.

In my next post I will talk about the symptoms of low cortisol and why it's important to have enough of it in your body at all times.

Common Frustrations with Medical Providers

Let me preface this by saying that my endocrinologist is wonderful. She is incredibly smart, efficient, and it helps that she understands what I do for a living and is supportive of my specialty in the medical field. I would, and have, highly recommend her to anyone seeking an endocrinologist in my area.

My pulmonologist is similarly very supportive of my condition and understands it. He makes sure he works around the condition and has a great rapport with my endocrinologist.

My primary care provider, and those in her practice, have been less supportive. The biggest problem is that they have maintained my misdiagnosis of PCOS in my chart as an active problem, and they have also not updated my actual diagnosis in my chart. This has happened with other diagnoses as well in the past.

The other big problem is not unique to my PCP, but has been an upsetting attitude from a multitude of healthcare providers, is that they look at my treatment for NCAH and make assumptions. This varies from assumptions that I gain weight because I'm on steroids, to assuming that I am prone to infections because I'm on steroids. And the worst part is that when I try to educate the providers they blow me off in a condescending manner. This leads to inaccurate information being included in my charts and a lack of appropriate response to my concerns.

At least the last time I went to my endocrinologist I got a great new line to use in those situations. In case anyone else has similar problems, here is the response my endocrinologist gave to the idea that I might be getting infections from being on steroids.

The steroid dose is not exceeding physiologic need, therefore it will not cause infections or any other issues. It simply brings my steroid level back to normal levels like the humans around me. It would be like arguing that having a normal limb causes a gait change. It would, but only if my normal gait was an abnormal gait to start with.

A Few Years Out

I need to be more strict about taking my medication. My endocrinologist asked me to be "obsessive" about it. I've never had a doctor ask me to be obsessive about something before.

I take one pill every night, that's all I have to do to be okay most of the time. If I need surgery or if I got really ill I might need IV doses of the steroid, but otherwise just one tiny pill every night is enough. 

And yet I still sometimes forget to take it. When I get stressed, that's when I tend to miss taking it the most. It gives me a feeling of control in my life, when maybe at work things feel out of control or my commute is frustrating or I'm just tired. Taking my medication is a choice that I have. And when I just do what I'm supposed to do and take it, that doesn't feel like making a choice, even though it is. So sometimes I skip it. Sometimes deliberately but more often than not I just forget.

I was reminded of how important it was last week. I saw my endocrinologist for my yearly check up and I had been stressed a lot recently and not taking my medication. They always draw blood as part of the check up to make sure my hormones are in control. Everything was okay except for my 17-OH-progesterone was really high. 

For perspective, normal adult levels of 17-OH-progesterone are 200 ng/dL. Last year, my values were in the 300's, higher than the year before, but acceptable to my doctor. Again, I was missing my medications sometimes then too, but not as much as this year. This year, my values were in the 800's. My endocrinologist was alarmed until I admitted that I haven't been as careful with taking my meds as I should be. Now I have to go back in 3 months and have blood drawn again and hope that the values are better. If they're not, we'll have to change medication or increase the dose.

She explained that every time I miss a dose, my hormone levels move way out of control, even if I take the dose next time. In order to keep my body functioning in a stable manner, I have to take the pill every evening. In addition, my medication allows me to cope with stress physically, and when I fail to take it I open myself up to increased risk of illness and exhaustion. 

I didn't realize just how dangerous my decision to not take my meds, or at best my decision to not be careful about taking my meds, might be for my health. Hopefully my increased vigilance around taking my medication will help me have fewer infections and keep me from getting sick as readily as I have been this year. 

Soon I will publish a post on some common frustrations I have when interacting with medical personnel who don't understand what NCAH is or who don't understand the purpose of my medication and how it interacts in my system.

What is Late Onset Congenital Adrenal Hyperplasia

Late Onset Congenital Adrenal Hyperplasia is an autosomal recessive disorder, and it is one of the most common autosomal recessive disorders. There are 304 autosomal recessive disorders that have been identified, some of the other common ones being Cystic Fibrosis and Tay-Sachs. This is a Wikipedia link to the identified autosomal recessive disorders. 

What is an autosomal recessive disorder? An autosomal recessive disorder is a disorder of the autosomes, basically a disorder of any of any chromosomes which are not a sex chromosome. In the case of NCAH, the gene that is affected is called CYP21A2. The recessive part means that both autosomes of the affected pair must be affected for a person to actually have the disorder. There are three possible autosomal combinations. A person with two normal autosomes. This person is healthy and does not have or carry NCAH. A person with one normal autosome and one affected autosome. This person is healthy and does not have, but does carry, NCAH. A person with two affected autosomes. This person has NCAH. If two carriers were to get married, the statistical probabilities for their resulting offspring are shown in the image on the right. (Source) This shows all those combinations.

While NCAH is the one of the most common autosomal recessive disorders, it is still classified by the National Institutes of Health (NIH) as a rare disease, meaning that under 200,000 people in the United States have been diagnosed as having this disease at this time. However, I suspect that this disease is less rare than the NIH believes, and that this it is simply under-diagnosed. 

One thing I hope to do with this blog is raise awareness of this disorder and hopefully help people who have this disorder learn more about it, but even more importantly help people who have this disorder and have not been diagnosed realize their condition and become diagnosed and also help raise awareness. This is a very treatable disorder which, if left untreated, can really mess with a person's life on many levels, and I am so very grateful that I had an endocrinologist who was so alert to the discrepancies in my blood work and investigated further instead of accepting my previous diagnosis. 

Diagnosis

About a month ago I was tentatively diagnosed with non-classical congenital adrenal hyperplasia, a very common autosomal recessive disorder that is due to P450c21 (21-hydroxylase deficiency), the result of mutations in the CYP21A2 gene, located at chromosome 6p21. 


This disorder wasn't identified until the late 1950's, and is still being underdiagnosed, and more frequently is diagnosed in women than in men, due to the symptoms primarily being of excess androgens.
My symptoms include:
Hirsuitism (excess facial hair)
Thinning hair
Irregular but active periods
Weight gain (partially the result of poor exercise and eating habits, and partially the result of poor metabolism from misfiring adrenal glands)
Moderate facial acne from mid high school until now (early 20's)
And a previous diagnosis by my family physician with PCOS (Polycystic Ovarian Syndrome, a common prior diagnosis for patients with Late Onset or Non-Classical Congenital Adrenal Hyperplasia).
What made my endocrinologist tentatively diagnose me with NCAH was some basic blood work looking at my androgens, or male hormones. She was looking to confirm PCOS, and instead realized that not just my testosterone was high, but all my male hormones were high.
So she sent me back for more blood work, done the second morning of my cycle, when she knew what my androgen levels should be, and for her that demonstrated with about 95% accuracy that I indeed had NCAH. But she said that there was a very small chance that I had ovulated just before this round of bloodwork had been done, and since there was no way to rule that out for that particular blood work, she sent me for another test.
This was called a Cort Stimulation Test, and it was done in the local hospital where I work in the cancer infusion clinic. First they inserted an IV and drew blood and then inserted a drug called Cosyntropin. It gave me a feeling of nausea, but nothing else, and then they redrew blood at 30 minutes and again at 60 minutes. Other than having to redo this test a few days later because the original draw was performed in such as a way as to cause blood to hemolyse before the lab could perform the tests, this test was fine, just time consuming. 
A little over a week later, my endocrinologist called me. The cort stimulation test had confirmed her diagnosis, I did indeed appear to have NCAH, and she was sending me a prescription for Dexamethasone, and I would need to make an appointment to see her in six weeks. I didn't know how the medication would affect me, if at all, but I hoped I would see some improvements.