Why some diseases are difficult to diagnose  

Why some diseases are difficult to diagnose   

You would think going to the doctor to figure out what’s ailing you should be straightforward. You have certain symptoms, therefore it should be obvious what is wrong.  Sometimes this scenario does play out when the medical condition is easy to diagnosis. But, when symptoms are vague or ‘nonspecific,’ even skilled doctors may be stumped from knowing exactly what the problem is. Unfortunately, it may take months or even years suffering from a treatable malady before you get the correct diagnosis.

Here is a look at 10 difficult to diagnosis diseases which sometimes doctors overlook, why this may happen and what you can do to get an accurate diagnosis in a timely manner.

1.  Sleep apnea

It is estimated that as many as 80 percent of people who have unsatisfactory sleep have not yet been diagnosed. Sleep apnea is one of the more underdiagnosed and undertreated conditions among Americans.  Many people may be suffering from various symptoms having no idea that the root of the problem is due to poor sleep quality caused by sleep.

One reason why sleep apnea tends to get unrecognized by a doctor or someone who has it is because the symptoms of it are very broad.  Because of poor sleep, a person can begin to experience depression, fatigue, trouble concentrating, extreme daytime sleepiness, a dry mouth and sore throat along with unexplained high blood pressure, daytime headaches, and incontinence while sleeping.

Your best bet to get an accurate diagnosis is to get an evaluation by a sleep specialist.  A sleep study will need to be done to get a definitive diagnosis and from there treatment recommendations can be made.

2.  Migraines

It is estimated that up to 12% of Americans experience the throbbing pain or intense pulsing of a migraine which are one of the most disabling from of a headache.  The average migraine sufferer will experience a headache more than 14 days of the month greatly affecting their family, work and social life.  Most doctors are generally good at suspecting migraines in patients who experience the typical symptoms of severe pain on one side of the head, sensitivity to light, and nausea/vomiting. But if the migraines present without those symptoms then they may get overlooked. Sometimes a person may be told what they have is a sinus headache in which they will be prescribed antibiotics unnecessarily.  Patients can make it easier for their doctor to diagnosis migraines if they keep a journal of the frequency, duration, symptoms experienced, time of day, and what they may have eaten or what they were doing at the time the migraine was first noticed.

3.  Glaucoma

Glaucoma is a condition resulting in progressive damage to the optic nerve due to high pressure in the eye (intraocular pressure).  The optic nerve carries images from the retina, which is the specialized light sensing tissue, to the brain so we can see.  In someone with glaucoma, eye pressure plays a role in damaging the delicate nerve fibers of the optic nerve.  

People with glaucoma typically first lose peripheral (side) vision, and may not go to a doctor until their eyesight is so impaired that they start to bump into things. Glaucoma is also hard to catch via eye screenings – especially in patients who have undergone vision-correcting refractive surgery, which can cause eye pressure readings to be fairly normal.  To help prevent glaucoma from getting overlooked, it is advised that everyone see an ophthalmologist by age 40 to have a full eye exam that includes a comprehensive glaucoma screening.

4.  Bipolar disease

 In adults, bipolar disease is relatively easy to diagnosis. But in children, this manic depressive illness is often mistakenly diagnosed as attention deficit-hyperactivity disorder (ADHD) or oppositional defiant disorder (ODD).  The best tip-off is that mania of bipolar illness is episodic, whereas the behavior of ADHD and ODD is chronic.

5.  Childhood asthma

Typical symptoms of asthma in children include shortness of breath, frequent coughing spells, a whistling or wheezing sound when exhaling, and congestion, pain or tightness in the chest. But sometimes asthmatic kids experience atypical symptoms such as restlessness, poor sleep, inability to keep up with other kids, or coughing after laughing.

If you suspect your child has asthma but you are not satisfied with your doctors’ diagnosis, ask for a second opinion with a pulmonologist or allergist.

6.  Lupus

When a patient exhibits the typical ‘butterfly’ rash often characteristic of this chronic autoimmune disease, the diagnosis of lupus is generally easy. But not all lupus sufferers are typical. The symptoms of lupus are far-ranging and often mimic those of other diseases, making it a challenge for doctors to make a diagnosis and treat it.  Since the disease is not always obvious, it is not unusual for someone with lupus to have seen multiple physicians before a diagnosis is confirmed.

Lupus is a chronic, autoimmune disease having the ability to do damage to any part of the body including the skin, joints, or organs.   Because it involves these areas of the body, a rheumatologist is the best doctor to see for diagnosing and treating lupus.

7.  Celiac disease

Celiac disease is a chronic inflammatory disorder of the small intestine that many doctors fail to diagnosis, usually because they don’t think about it. This rare condition is believed to affect up to 1 percent of the population.  Symptoms include gas/bloating, diarrhea, weight loss, and growth delay in children but often it’s mistaken for irritable bowel syndrome or lactose intolerance. The gold standard for a definitive diagnosis remains endoscopy and a biopsy of the small intestine.

8.  Rheumatoid arthritis

Unexplained aches and pains often accompany rheumatoid arthritis (RA), an autoimmune disorder. Unlike osteoarthritis (the “wear and tear” kind that appears as people get older), RA causes inflammation and painful swelling of joints and can occur at any age. Doctors may have difficulty in getting an accurate diagnosis in the beginning as early stages of RA can mimic many other conditions since aches or stiffness in joints can be caused by many different things. Blood tests can help detect the presence of inflammation in the body but an exact diagnosis of RA must take into account a patient’s medical history and a doctor’s careful physical exam.

9.  Pelvic inflammatory disease

Women who have pelvic inflammatory disease (PID) - a disorder of the female reproductive tract - may present itself in various ways. Typical PID causes fever and severe pelvic pain which some doctors mistake for appendicitis. Sometimes PID may cause abdominal cramps or discomfort after sex or vague symptoms whose cause is hard to pinpoint. Any woman who has experienced a recent change in periods, or has changed sex partners and is feeling vaguely unwell, should see her doctor for a pelvic exam along with tests for gonorrhea and chlamydia.

10. Multiple sclerosis

Multiple sclerosis (MS) occurs when the immune system attacks the body’s own nerve cells and disrupts communication between the brain and rest of the body. Some of the first symptoms of MS are often numbness, weakness, or tingling in one or more limbs, but that’s not always the case. Depending on the number and location of lesions in the brain, signs and symptoms may be more or less severe in different people. Once a doctor does suspect MS, a spinal tap or MRI can help confirm the diagnosis.