DSM-5 And Somatic Symptom Disorder – Dire Consequences For Rare Disorders

There’s a lot of noise coming from the mental health community lately, and it’s getting louder. It seems that the normally quiet and thoughtful group has been split in two by the controversy over the changes to the Diagnostic and Statistical Manual of Mental Disorders (DSM). There have been several changes to the manual since its initial 1952 version, each with its own set of additions, deletions, and changes. This time around, the changes have stirred up controversy both in the patient and professional communities. Change to the Somatoform Disorders category will either directly or indirectly affect every one of us because every one of us may will experience disease.

David Kupfer, Chair of the Task Force for the DSM-5, believes that the description in the DSM-IV needs changing.

“Somatoform disorders are characterized by symptoms suggesting physical illness or injury, but which may not be fully explained by a general medical condition, another mental disorder, or by medication or substance side effects. The symptoms are either very distressing or result in significant disruption of an individual’s ability to function in daily life.”

As a consumer of health care, this greatly disturbs me. As someone with a rare medical condition, it alarms me. However, the DSM-IV version does have a barrier so that medical doctors don’t end up writing scripts for anti-depressants to every third patient who they can’t or aren’t willing to work with to find an answer for the patients’ physical complaints. However, the barrier has been removed in the DSM-5 version. Here’s his rationalization for the change:

The DSM-5 makes a significant change to the diagnostic criteria from previous editions by shifting the emphasis from medically-unexplained symptoms to the impact of those symptoms on a person’s thoughts, feelings and actions. In DSM-IV, it was required that somatic symptoms be medically unexplained — that is, if symptoms could be traced to an identifiable underlying medical disorder like depressive symptoms in hypothyroidism, the diagnosis of somatoform disorder could not be made. The problem with this exclusion is that it did not take into account some patients who exhibit an unusually negative reaction to their symptoms (like excessively-high anxiety) even when symptoms are medically-explained. Such patients may benefit from treatment.

Now, only one of the following criteria needs to fit:

  1. disproportionate, persistent thoughts about the seriousness of their symptoms OR
  2. persistently high level of anxiety about their health or symptoms OR
  3. devoting excessive time and energy to symptoms or health concerns.

While the manual is written by the American Psychiatric Association, this category and its changes are targeted towards primary care doctors. Essentially, your doctor will give you a mental illness label if he or she thinks you can’t cope with your physical symptoms the way they think you should. Not only must you deal with your illness in a way that your doctor deems as “normal”, but you must do it in six months or less. While your doctor may think he or she is doing you a favor, the fact is, that label will remain on your record for life.

This could be difficult for someone who has a temporary illness, but it’s devastating for those of us with rare diseases. While people with rare disease are few in number for each disease, according to the NIH, there are an estimated 25 to 30 million people in the United States who have a rare disease or disorder. To put it into perspective, the number of people with rare diseases totals the population of the ten largest cities in the U.S. The problem is, we’re not all in one place and we don’t all have the same disease.

The fact is that no doctor can know all the presentations of the more than 6800 rare diseases. Even with all the advances in medical science, rare diseases take years to properly diagnose. The problem with the new DSM standards – nearly everyone with a rare disease would easily fit into this SSD category. The journey towards a root cause for our symptoms is neither a straight road nor one that’s without potholes, breakdowns or roadblocks. Both doctor and patient need to work together. This SSD category interrupts that process. It gives doctors permission to dump us on the side of the road, never to see us again.

The rare disorder I happen to have is one of the acute porphyrias, specifically  hereditary coproporphyria or HCP. Porphryia is technically a blood disorder, but it’s also considered a metabolic disorder. Complicating things even more is the fact that during acutely ill periods my nervous system is the one to raise all the red flags; ie. it’s neurological in nature. (Life is complicated.) The error on that particular gene is involved in making my blood, but it’s also involved in the breakdown of different chemicals in my body, whether it’s the food I eat, the chemicals I inhale or medications I take. If I throw caution to the wind, I can end up in the ER. So yes, I do spend a lot of time thinking about my condition. It’s how I live with my condition.

According to most journal articles on any of the four acute porphyrias, life with acute porphyria simply requires that I avoid certain medications, avoid or drink alcohol in moderation (there’s conflicting advice on that one), minimize stress, and eat a well balanced diet. If by chance I do have an attack, I should ask for pain meds first (could be seen as drug seeking), then IV glucose or hematin or both, and then I’ll be sent on my merry way. Most say that the vast majority of people with porphyria have one or maybe two attacks in their life. The fact is, my life is not as cut and dried as is described in medical journals. And most people I’ve met with porphyria don’t follow that description either.

Here’s what really happens.

The first attack that I remember was when I was about six years old. After that point, I had them like clockwork shortly after every Christmas. They look to anyone else like a bad case of a stomach virus. My mother called it the 24 hour flu, even though no one else ever caught it. (These were triggered by my mother’s cigarette smoke.) I got them nearly every month starting when I was sixteen. These looked more like severe menstrual cramps because it was timed with my menstruation. Even though each event was full of pain, I healed up quickly once it passed. No notice was ever taken of these bouts of “flu” or severe menstrual cramps. My mother was old fashioned. You didn’t go to the doctor unless you were bleeding profusely or a bone was sticking out. Things changed when I was in my late 20’s.

My first mistake was not avoiding that darn thing called stress. My doctor at the time was sympathetic, but she was also willing to try medications. This time around, the main symptom was messed up sleep, of which is a less known symptom of porphyria. (I would definitely have fit #2 or #3, at this point.) The result from that medication – an atypical presentation of an acute attack. Within a short time I was slurring my speech, had a hard time even forming thoughts, and had extreme pain and weakness in my legs. I slept it off, with no further intervention except to be given a diagnosis of CFS. That surely fits the SSD criteria. The problem was that it wasn’t the cause of my symptoms.

A few years later I began to have problems once again. This time it looked much more like a textbook case of porphyria. It started when I tried to lose a little weight. With each test doctors ordered, I was given another diagnosis, but they never seemed to bring all of my symptoms together. After all, the symptoms did cluster when I had attacks. But doctors knew better. IBS was suggested at least two times, and I was given a script for an anti-depressant. (To say the least, that went in the trash.)

I finally found a good primary care doctor. She carefully reviewed everything, and listened when I told her that I most certainly was sure that this was NOT in my head. She sent me to a surgeon, who carefully listened, ordered a few more tests, each time honing in on possible causes. The conclusion this time – my gallbladder was found to be functioning at a very low rate. I was happy to have it out. This was my ticket to a normal life.

It didn’t end up that way. I spent the next six months in more pain than I even knew was possible. The few days of recovery turned into months. True recovery only seemed like a dream. I also had severe pain in my chest, sudden bursts of tachycardia at odd times, and all unintended weight loss I experienced before the surgery just wouldn’t come back.

So I went back to the surgeon. I asked about porphyria as a possible explanation to what I was experiencing. (Yes, I spent a lot of time researching my symptoms. Can you blame me? I wasn’t getting anywhere with my doctors.) This is how the conversation went:

Me: “So do you think that porphyria might be causing my attacks?”

Surgeon: “You can’t have that. It’s too rare.” (He was right. It is rare.)

Me: “It takes people to make those numbers, even if they’re small. Maybe I’m one of those people.” (It turned out I was right.)

It wasn’t until I went back to my primary care doctor that we started to rule out other causes. It was six months from the date of my surgery to the time I was hospitalized for the most severe attack I had. It was another year before we were able to rule out other causes, and deal with my lingering symptoms before I officially received a diagnosis of hereditary coproporphyria. I hit that six month time limit long before I got my HCP diagnosis.

So of course we’re going to appear anxious. Each time we visit the doctor we’re going to worry about whether or not we’re going to get that disapproving look or unconscious roll of the eyes. We’re going to worry even more if we are so ill that we have go to the ER. (Yes, those of us with chronic medical conditions don’t really want to go to the ER.) We are seen by doctors who don’t know us, and have only vague knowledge of what porphyria is. Our biggest worry is that we’ll be kicked out as a drug seeking when we ask for morphine to help reduce the pain. Pain is really our biggest worry. Pain drives our lives, but if our pain is dismissed, it’s even more distressing. And if you drive us away enough times, yes, we may likely develop serious depression.

The scary thing is, 40 years ago psych wards had a disproportionate number of people with porphyria in them. Doctors simply did not understand or recognize the connection. They are just starting to understand it, yet way too many doctors are sold on the idea that writing scripts is the way to go. Add the change to the DSM, and you have the perfect storm – all that progress down the drain.

While the APA’s DSM task force believes it is improving people’s lives with this new installment of the DSM, the truth is, people like me would be never get the help. Not only is unnecessary labeling wrong, it could have fatal consequences. Many articles on porphyria state that people experience misdiagnosis because doctors do not think of porphyria as a possibility. The problem is not with how patients deal with their somatic symptoms, but instead it’s the way that doctors approach patients who don’t fit the diagnostic mold. Just because I do not fit into the mold, it doesn’t give any doctor the right to toss me aside as too difficult, depressed, anxious or any of the other reasons they want to give. Hey, we don’t like what we’re experiencing either, but we don’t really have a choice.

So if after reading my story, you feel a connection to what I am saying, raise your voice. Let your doctor know that your voice counts. They are your partner in your care, not your dictator. Let them know they need to work with you to find the root cause of your somatic symptoms, and that you deserve to be treated with respect. Yes, some counseling may well be in order, but a script for meds and a boot out the door is not the respect you deserve.

If you recognize my story in patients you see, please join others in a boycott of the DSM-5. Although each voice is small, together we can make a difference. Let’s declare in one loud voice that the APA’s DSM-5 is not helpful. More information on the boycott can be found here. In the meantime, share this story with others so that they may add their voice.


2 thoughts on “DSM-5 And Somatic Symptom Disorder – Dire Consequences For Rare Disorders

  1. I hardly leave responses, however after browsing a few of
    the responses on DSM-5 And Somatic Symptom Disorder – Dire Consequences For Rare
    Disorders | Social Justice & Other Liberal Ideas.
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