World Rare Disease Day is celebrated on the last day of February. It was started in 2008 to raise awareness and improve access to treatment and medical representation for individuals with rare diseases and their families. Rare diseases are not as rare as we think and affect many individuals. Rare diseases are a difficult territory to work in, considering the lack of research advancements in identifying their causes as well as limited to no options for treatment. In 2009, Rare Disease Day went global as the National Organization for Rare Disorders (NORD) and mobilized 200 rare disease patient advocacy organizations in the United States. Organizations in China, Australia, Taiwan, and Latin America also coordinate activities and promote the day in their respective countries.
Rare diseases have baffled the medical community for ages. They’ve always been a challenge to us, and we’ve always tried our very best to figure them out. We haven’t always been successful with the results, but that has never stopped us. This World Rare Disease Day, we present to you a handful of interesting and brain-tickling diseases that you should definitely know about!
Let’s start with an easy one. Recall the Bollywood film Paa starring Amitabh Bachchan with a fantastically designed fake-enormous head. The movie depicted progeria, an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age. The characteristics of this disease include:
- Limited growth
- Full body alopecia
- Wrinkled skin
- Small, fragile bodies
- Prominent scalp veins
- Musculoskeletal degeneration
Signs and symptoms of progeria tend to become more marked as the child ages (and the movie, too, gets progressively sadder). Progeria is caused by de novo mutations in a gene that encodes lamin A. This creates an abnormal nuclear morphology and disorganized heterochromatin. A genetic test for the LMNA gene (coding for lamin A and lamin C proteins) mutations can confirm the diagnosis of progeria. As there is no known cure, few people with progeria exceed 13 years of age. (Spoiler alert!)
If someone has this disease, then they are as close to zombies as possible. Kuru is a very rare, incurable and fatal neurodegenerative disorder, common among the Fore people of Papua New Guinea in the past. It is caused by the transmission of prion proteins. Its symptoms include tremors and loss of coordination from neurodegeneration. How did this disease originate? Well, it started when the tribe members practiced funerary cannibalism. What’s that? They literally ate their dead peers because it “helps free the spirit.”
Women and children usually consumed the brain, which started the problem. The infectious prions were most concentrated there, which allowed transmission of kuru. Kuru has a long incubation period of anywhere from 10 to over 50 years. The epidemic declined sharply after discarding cannibalism, from 200 deaths per year in 1957 to no deaths from at least 2010 onwards. The last known kuru victim died somewhere between 2005 to 2009.
3. Werewolf Syndrome
If you think this disease turned its patients into howling wolves every night of a full moon, you’d be wrong. Hypertrichosis, or werewolf syndrome, is a condition characterized by an abnormal amount of hair growth over the body. Many times, the overgrowth of hair on the face of a patient forced them to work as freaks and entertainers in circuses. The typical classification of this disease is as follows:
- Hypertrichosis lanuginosa – the infant is completely covered in thin lanugo hair.
- Generalized hypertrichosis – males exhibit excessive facial and upper body hair.
- Terminal hypertrichosis – the presence of fully pigmented terminal hair that covers the entire body.
- Circumscribed hypertrichosis – the presence of thick vellus hair on the upper extremities.
- Localized hypertrichosis – localized increase in hair density and length.
- Nevoid hypertrichosis – an isolated area of excessive terminal hair and is usually not related to any other diseases.
- Hypertrichosis lanuginosa – the rapid growth of lanugo hair, particularly on the face.
- Generalized hypertrichosis – multiple hairs occupying the same follicle.
- Patterned hypertrichosis – increase in hair growth in a pattern formation.
- Localized hypertrichosis – increase in hair density and length often secondary to irritation or trauma.
4. Cotard delusion
Imagine that you’re dead. There, you have Cotard’s delusion! No, really. Cotard delusion, also known as walking corpse syndrome, is a rare mental disorder in which the affected person believes that they are already dead, do not exist, are putrefying, or have lost their blood or internal organs. Some deny their own existence while some think they’re immortal.
A mild case is characterized by despair and self-loathing. A severe case, on the other hand, is characterized by intense delusions of negation and chronic psychiatric depression (tough!). Cotard’s syndrome exists in three stages:
(i) Germination stage—the symptoms of psychotic depression and of hypochondria appear i.e people start getting suspicious of you;
(ii) Blooming stage—the full development of the syndrome and the delusions of negation i.e people are clearly trying to stay away from you; and
(iii) Chronic stage—continued, severe delusions along with chronic psychiatric depression i.e. now you’re stuck in a ward.
5. Proteus syndrome
This syndrome is named after the Greek sea-god Proteus, who could change his shape at will. Patients with Proteus syndrome have tissue overgrowth in all three embryonic lineages with an increased risk of embryonic tumor development. Only a few more than 200 cases have been confirmed worldwide. About 120 people are currently alive with the condition. So what exactly happens in this syndrome? It causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Typically affected are either of your hands, soles of your feet, and skull. Seizures are often associated with this genetic disease.
While the jury’s still out for the cause of this disease, there’s some development in its treatment. A team of doctors in Australia has trial tested the drug rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy. The obvious problem here is whether the diagnosis of this patient is accurate, which reinforces the idea that more research needs to be conducted to find the causative gene of Proteus syndrome.
The number of people affected by rare diseases pales in the comparison of our 7 billion world population but we cannot abandon them. In fact, with the advancements in medical technologies, we should be putting in great efforts to reach the root cause of these diseases and work forward to treat them. The patients and their families can feel isolated and lost in the sea of diseases if no one recognizes them. Read up. Educate. Spread awareness. Do the right thing this February 29.
1. Progeria. Available at:https://en.wikipedia.org/wiki/Progeria. Accessed on 27 February 2020.
2. Kuru. Available at: https://en.wikipedia.org/wiki/Kuru_(disease). Accessed on 27 February 2020.
3. Hypertrichosis. Available at: https://en.wikipedia.org/wiki/Hypertrichosis. Accessed on 27 February 2020.
4. Cotard delusion. Available at: https://en.wikipedia.org/wiki/Cotard_delusion. Accessed on 27 February 2020.
5. Proteus syndrome. Available at: https://en.wikipedia.org/wiki/Proteus_syndrome. Accessed on 27 February 2020.
6. Rare Disease Day. Available at: https://en.wikipedia.org/wiki/Rare_Disease_Day. Accessed on 27 February 2020.