5 Ultra-Rare diseases that seem something out of a Science Fiction

Photo by United Nations COVID-19 Response on Unsplash

Recently, the world was struck by the corona pandemic, and we all were in dire need of finding the cure. And before the discovery of the vaccine, different countries united together and followed the call for lockdown. We all vowed to tackle the pandemic at the fundamental levels and came out with the concept of social distancing. But have you ever thought if the scale of the spread of the COVID-19 was not enormous or had it been a rare disease then it would not even have made the headline and probably remained unnoticed? Right! But this article will enlighten you about 5 rare diseases (or disorders) that are affecting the minority (one in million people) around the globe. Below is the list of rare diseases that includes rare autoimmune diseases and rare skin diseases too.

1. Hematohidrosis (Bloody tears)

Photo by Amin Moshrefi on Unsplash

Blood, sweat, and tears, a very popular kpop song is perfect to describe the symptoms of this disease. Hematohidrosis first came into the limelight through the National Geographic documentary about a girl who shed bloody tears and was a native of India. At first, most people and even doctors considered it to be a part of Munchausen syndrome by proxy ( a form in which the caregiver deliberately forces the victim to believe a hypothetical illness)but when more patients sought medical practitioners for help, the false illusion broke.

Talking on a spiritual note, it is now believed that Jesus also experienced an episode of Hematohidrosis right before his crucifixion as portrayed in the Defenders Bible.

Symptoms

They may vary from person to person. Earlier, it was thought to only affect the females where vicarious menstruation was common but few cases are reported in the male population too. The similarity remains in the discharge of blood. The blood can ooze out from eyes, skin, umbilicus, and other skin surfaces. In addition, there is bloody sweat and the skin can swell around the infected area. For some patients, this can be painful while for others it may not be the case.

Is it curable?

According to doctors, it is not a life-threatening disease and since the symptoms appear abruptly they also disappear on their own without necessary treatments.

Many doctors around the globe, think of this disease as a conundrum that whether it is a sign of evolution where the human body is developing a mechanism that has unique responses to stress and hormones?

2. The Alice in Wonderland syndrome

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Imagine you wake up with a slight headache and then as you are about to get dressed, the person you see in the mirror is not the usual you but instead an extraordinarily elongated or shortened human. And the fact is that you have not got any elastic girl powers but instead are facing symptoms of a very rare disease.

Yes, you might have got the hint by now as the name came from the renowned children's novel Alice In wonderland. According to the available data, around 166 cases of this syndrome have been reported so far around the globe. Alice in wonderland syndrome, also abbreviated as AIWS is a rare neurological disorder in which a person experiences an altered sense of vision, touch, hearing, and an increased difference in size concerning one’s own body image.

Symptoms

As already mentioned above, a person suffering from this disorder experiences disorientation regarding the size of one’s own self or the other followed by temporary incidents of distorted perception. In addition to these, Nausea, Migraines, and dizziness are frequent as they play as precursors and trigger the disease.

Is it curable?

To date, there is no treatment available for AIWS. But since there is a treatment for other symptoms which probably trigger the neurological condition, so there is a chance to alleviate the further symptoms. Also, since the disease is neurological, it is best to familiarize the patient with its condition so that the patient can accept the fact hence reality too.

3. Ribose-5-Phosphate isomerase deficiency

Photo by National Cancer Institute on Unsplash

Our body needs energy for proper functioning and that energy is provided by food which is accepted as glucose by our body. For this to happen a process called glycolysis takes place and requires certain enzymes for acquiring the desired outcome. Similarly, there is one more process that works parallel to glucose and forms an end product called Ribose-5-phosphate sugar which is required in the formation of DNA(it codes for our genetic information) and RNA. Now, suppose there is a mutation in one of the constituents of the DNA, then it becomes evident that the whole organism is going to be affected.

In other words, the above disease is caused when there is a mutation in the enzyme, ribose-5-phosphate isomerase. There are only 3 diagnosed cases for this disease so far, making it one of the rarest diseases.

Symptoms

The three patients who suffered from this disease experienced subtle psychomotor disorders, epilepsy, abnormalities in white matter(part of the brain), and delayed development. There is also damage to the optic nerve leading to a condition called “dancing eyes.” The molecular cause for this disease is still hypothetical.

Is it curable?

This disease has neither a prognosis nor a treatment.

4. Aquagenic urticaria (Water allergy)

Another fascinating disease that seems unreal happens in the form of an allergy i.e, water allergy. When a person comes in contact with water(regardless of nature or temperature) then he/she experiences small hives emerging on the skin.

Photo by Jorge Alcala on Unsplash

Symptoms

A person can develop hives(red rashes) on the skin when any type of contact with water is made. The source can include, seawater, tap water, swimming pools, saliva, or even tears. Itching may start once contact is made and then the person may experience pain or maybe not. The rashes develop on the neck, arms, or anywhere where contact is made.

Is it curable?

The cause of this disease is still a little doubtful but there is a certain mechanism that supports the allergic reactions. It is also seen that once the water source is removed the rashes diminish within 30–60 minutes.

Avoidance of water is the ultimate choice as currently there is no treatment available as a permanent cure.

5. Gaming disorder

Photo by Florian Olivo on Unsplash

WHO(WORLD HEALTH ORGANIZATION) approved on May 25, 2019, in their 11th edition, addiction of video gaming as Gaming Disorder. It is defined as “a pattern of persistent or recurrent gaming behavior” so severe it “takes precedence over other life interests”. Similar to gambling, video gaming is also an insidious addiction that is prevalent in youngsters nowadays.

Well, now you must be thinking if this is a rare disease or not since many youngsters these days are inclined to video gaming but according to the WHO, to be diagnosed, the behavior must be severe enough to cause “significant impairment in personal, family, social, educational, occupational or other important areas of functioning.”

Symptoms

A vast range of symptoms accompanies this disorder including elbow pain, numbness in hands, wrist pains, anger issues, auditory hallucinations, obesity, insomnia, depression, bipolar disorder, psychiatric conditions, etc. These are some of the common ones but the list can be elaborated further.

Is it curable?

Of course, by self-realization. But it is hard to tell when your leisure time for half an hour turns into 6 whole hours of gaming a day. The first thing that a person or any other family member can do is look for the initial warning signs and notice a change in the behavioral patterns of the concerned individual. The treatments may require anti-depressants or anxiety-controlling drugs depending on the severity of the condition.

What does the Indian Government have to offer for rare disease patients?

The government has proposed to fund one-time treatment costs to the tune of Rs 15 lakh for certain treatable rare diseases. The only condition is that the patient should be eligible under the Government’s flagship health insurance scheme, Pradhan Mantri Jan Arogya Yojana (PMJAY) or Ayushman Bharat.

Fact file

Photo by AbsolutVision on Unsplash

What is the difference between a disease and a disorder?

These two words may seem interchangeable but are indeed having dissimilarities such as a disease is transmissible but a disorder can’t. The disease is often caused by an external pathogen but a disorder is generally caused by a genetic mutation inside our body.

Mehak Khajuria

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Mehak Khajuria

Mehak Khajuria

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Former writer for science newspaper, completed my master’s in zoology and mostly write about science stuff, also tried my hand in poetries and short novels.