Medical TV shows tell us a lot about rare diseases, from shocking infections to disturbing parasitic invasions. As we listen to the affected people’s stories, we can’t help but feel a little anxious, because their symptoms were common. It would start with an ache, an itch, a fever, or a headache. Indeed, you would never associate those seemingly harmless symptoms with anything that can kill you.
But almost a year into the pandemic, many of us have become more health-conscious. We immediately want to get tested when our throats feel dry and itchy, or if our noses feel stuffy. But we will do well to bear in mind that COVID-19 isn’t the only scary illness out there. If we don’t practice proper hygiene, ignore our persistent symptoms, or don’t watch what we eat, we could increase our risk for the following rare diseases:
- Von Hippel-Lindau
Von Hippel-Lindau causes the body to develop tumors and fluid-filled sacs in various parts, especially in the central nervous system. The tumors, called “hemangioblastomas”, are often benign. But they may still cause life-threatening complications.
Hemangioblastomas that start in the central nervous system cause headaches, vomiting, weakness, and decreased muscle coordination. Those that start in the retina, on the other hand, may cause vision loss.
Around 10% of people with Von Hippel-Lindau syndrome grow endolymphatic, noncancerous sacs in the inner ear. It may cause a ringing sound in the ear, balance problems, or hearing loss in one or both ears. If left untreated, the tumors can cause sudden profound deafness.
- Paraneoplastic Pemphigus
Paraneoplastic Pemphigus (PNP) is a life-threatening autoimmune disease that causes blistering, with underlying malignancy. The blisters usually grow in the mouth, throat, lips, and random parts of the skin. But it affects multiple organ systems.
PNP occurs most frequently in adults aged between 45 and 70 but may appear in children and adolescents in rare cases.
Some patients exhibit rapid improvement after the removal of a benign PNP tumor. But if the tumor is malignant, the patient may face a higher likelihood of death, because malignant PNP tumors tend to be unresponsive to treatment.
- Morgellons
This disease baffles doctors, with some of them believing that it’s a chronic infectious disease. Morgellons disease causes itching, biting, stinging, and crawling sensations, leading to broken skin and slow-healing sores.
The symptoms can be quite painful. And because it’s hard to diagnose, Morgellons patients may also experience anxiety. Hence, if you have Lyme disease, were exposed to a tick, have blood tests that indicate a tick bite, or have hypothyroidism, talk to your doctor about this disease if you’re experiencing its symptoms.
- Pork Tapeworm
Pork Tapeworm, scientifically known as Taenia solium, is a parasite that can live inside humans and cause epileptic seizures and other neurological problems. The pork tapeworm’s larvae may cross the blood-brain barrier and access the nervous system, where it would grow fluid-filled cysts. These would then trigger the symptoms.
Humans contract this parasitic disease through consuming eggs containing the larvae. It mostly affects people in Asia, South America, and sub-Saharan Africa. Cases are exceptionally rare in the U.S. and U.K.
- Brain-eating Amoeba
The brain-eating amoeba causes a rare infection and severe inflammation in the brain. It also causes many other neurological symptoms that it has a fatality rate of nearly 100%.
Humans acquire this parasite when they expose themselves to a contaminated warm body of water. The brain-eating amoeba will enter the body through the nose, then invade the olfactory nerves, until they reach the brain. Initial symptoms include fever, nausea, headache, and vomiting, and progressive ones include seizures, hallucinations, comatose, and eventually, death.
How are Rare Diseases Diagnosed?
You’ll go through a series of tests no different from ones you normally experience for any other illness. If your doctor recommends a lab test, you may undergo blood tests, urine tests, throat swabs, stool examination, or spinal tap. But if you are experiencing severe headaches, for example, you’ll likely undergo an imaging scan, either X-ray, CT scan, or MRI.
For tumors, cysts, or other types of masses, doctors would recommend a biopsy. But biopsy also examines body tissues, like lung tissue, for example, to check for pneumonia.
What Happens After Your Diagnosis?
Doctors will start with your treatment and inform you about the services you need to receive. In addition, your healthcare provider will document your records in a reliable medical coding software tool.
Medical coding is a process that translates your diagnosis, procedures, services, and equipment to universal medical alphanumeric codes. The codes will ensure that the information in your billing statement is correct so that your insurer will cover the right amount.
Treating rare diseases will surely cost a lot, so watch what you eat, and don’t ignore your symptoms, whether they are usual or unusual. Stay on top of your game when it comes to your health, and you’d never worry about catching anything deadly.
