It seems like there is a new call to action every month for a disease or condition. Yet, what happens to the people with conditions that do not receive the attention their condition deserves, both from the public and the medical community? Even in this day and age of amazing medical feats, there are still many out there who go undiagnosed, or worse, misdiagnosed. Here is a list of some of the most misdiagnosed conditions that plague the medical field.
First, let’s look at a condition that most of us have heard of and is relatively common, Appendicitis. In layman terms, it means the inflammation of the appendix, an organ with little to no known function. In most cases it just seems like it is a perfectly anomalous organ that just decides to go bad, and causes a variety of symptoms! Although rarely life threatening, some doctors can mistake the symptoms below for indigestion, Irritable Bowel Syndrome, or the Stomach Flu.
Symptoms of Appendicitis include:
- Severe Sharp Pain on the Lower Right side of your abdomen (near the top of your hip area)
- Low grade Fever
- Elevated White Blood Cell Count
- Intense pain when pressure is applied to the painful area
- Quick and immediate improvement of pain for no reason (often a sign of a burst appendix)
With the mention of the last symptom above, when most emergency room physicians hear that pain has improved, they jump to sign discharge papers. Here is where failing to diagnose can be deadly. By telling the patient that their symptoms were simply due to indigestion or another common gastrointestinal ailment, they are reassuring patients that they will be fine. However, if it was truly appendicitis, this sudden improvement is indicative that the pressure that has built up in the appendix has been released. Now, the patient feels better, but their appendix has burst, releasing a potentially infectious and toxic slurry of fluids into the abdominal cavity. If this is not addressed right away, then serious complications can set in, and result in death, even if the appendix and fluid is removed.
You might be wondering, how can these very specific symptoms be missed? Well, the reason is twofold. One, doctors may not be spending enough time with their patients to perform an accurate exam, and receive a thorough history. The second is something we have been told since we were little, everyone is different. This second reason is the major cause of delay in the diagnosis of appendicitis, as these natural differences between patients can cause confusion. According to CNN Medical Writer Dr. Shapiro, there are instances in which patients have a “retroverted” appendix, or backwards appendix. Due to this placement the pain the patient experiences is in their right lower back, instead of their abdomen.
In the case of Susan Smith, she presented to a Nevada hospital emergency room with classic symptoms of appendicitis. After waiting several hours to see a doctor, Susan was able to convey her pain and symptoms accurately enough to the doctor in the brief period of time with him that appendicitis became the main concern. After running blood tests and CAT scans, the doctor was unable to see Susan’s appendix. Susan’s appendix was retroverted and a completely accurate diagnosis was almost impossible. However, from the CAT scan the doctor could see the inflammation Susan was feeling. Due to the possibility that her appendix could rupture, Susan was admitted to the hospital. Over the course of three days she was given large quantities of fluids and antibiotics. When she was able to return home, she was feeling better, but undiagnosed. Thankfully, today Susan is happy to report that she still has her appendix, and that she just feels lucky.
The second condition is something a lot of people around the world are familiar with. Strokes often strike fast and appear with little warning. This deadly combo means that without prompt medical attention, the results can be life changing, or life threatening.
Usually, stroke patients present with easily identifiable symptoms such as slurred speech, and one sided facial paralysis (facial droop). While scary, treatments are available and can help drastically improve the patient’s outcome. Both medical staff and families should know to act F*A*S*T when they see a loved one with possible stroke like symptoms. This acronym has changed the way we approach strokes and has led to a better chance of a proper stroke diagnosis.
This last condition is much less common than appendicitis and strokes, and often times less deadly. Known as Ehlers Danlos Syndrome Hypermobility Type, these are the people you see on the covers of Ripley’s Believe it or Not for how far they can stretch their skin. However, more commonly, these patients used to be contortionist circus performers. In the past these people would perform in circuses, as their flexibility was one of the only things they could do.
Today, people with Ehlers Danlos Syndrome are underdiagnosed, and their symptoms misdiagnosed as a wide variety of conditions. Here are just a few of the main symptoms that these patients have:
- Extreme Flexibility
- Debilitating Fatigue and Pain
- Frequent Dislocations
- Frequent Near Dislocations (called Subluxations)
- Stretchy, velvety soft skin
- Poor ability to absorb nutrients or medications
- Movement of internal organs, causing pain, blockages, and other complications
Now you would *think* that anyone who walks into a doctor’s office and says, “Hey Doc, look what I can do”… And proceeds into the pose on the above, would immediately strike them. However, this is not the case. Ehlers Danlos is a genetic condition that affects the production of collagen, something most of us don’t really worry about until the frown lines sink in. However, in these patients, their collagen is faulty and is too stretchy. Most however, have learned to cope, often normalizing their symptoms. Until a diagnosis is made most patients who can contort in odd ways, think most other people can too. This was what happened to me.
When I was little my parents would pick me up by the arms and swing me around like every normal child loves. The only thing was, my shoulders would dislocate. Used to the pain, I would never cry and my dad, a pediatrician thought that my muscles and bones were just not where they needed to be yet… “She’s still growing”… But as I grew older my body started to have a difficult time absorbing medications, leading to repeat infections. Due to several other nervous system conditions related to Ehlers Danlos, my bladder became the prime target for infection after infection. Even when my hips subluxed and I almost kicked four nurses in the room who were supporting my legs during a pelvic exam, no bells rung…. I sprained ankles, I broke my arm twice, I was underweight with a 4,000 calorie diet, I had surgery after surgery, and yet, nobody could tell me why my body wasn’t functioning properly. I was always the “clumsy kid”, and to my knowledge, even today, that is not an official medical diagnosis. Thankfully, Ehlers Danlos is.
This past October after having numerous drug resistant infections, and an increase in subluxations of my hips and shoulders, I finally turned to a geneticist. I thought, “Mom said they give the most thorough exam, surely they can’t possibly miss what everyone else is.” Sure enough that was the case. From my research I came to the geneticist already suspecting Ehlers Danlos Syndrome. After going through my family history, past medical history, and much more, he got to the physical exam. I was tested to see if I could do any of the following on the left. This chart is known as the Beighton Score, and it turns out I can do them all, I have a full score. In shock the geneticist said, “I rarely see people with a full score, what else can you do?” I showed him how I could move my hips out of socket at will, make a prayer sign behind my back, and reach around my back to touch my belly button. The next thing he said was truly amazing … “If you came into my office in the 50’s, 60’s, or even 70’s, you just might have left with an application for the circus.”
So this month, May, is Ehlers Danlos Awareness Month. And guess what, the “Zebra Challenge” is much cheaper, in fact FREE, and easy compared to the Ice Bucket Challenge. All that EDS patients are asking for this year is for friends, family, and internet viewers alike, is to draw a zebra stripe or pattern and take a selfie with it and tagging it #zebrachallenge and saying what you know about EDS. Trust me taking a selfie is much easier than trying to put your hip back in place!
This article was written by Katie Moore, a writer for dusk magazine.