Disease awareness is all the rage right now, and that's great and all because it brings awareness (and funding) to potentially devastating conditions. But there are still hundreds — thousands even — of rare diseases that you've probably never heard of but are equally as deserving of your time, attention, and donations. Though the name might imply that the afflicted are part of a small community, there are an estimated 30 million Americans suffering from a rare disease.
Not only are those living with a rare disease often isolated from their friends and family because of their condition, but they're also often misdiagnosed or dismissed by doctors who don't understand their symptoms. Only five percent of rare diseases — and there are more than 7,000 of them — have an approved treatment, according to the Pharmaceutical Research and Manufacturers of America. Having a rare disease is often a very alienating experience — but it doesn't have to be.
Every February 28, millions of people recognize Rare Disease Day in an effort to bring awareness to the plight of millions and to raise money for research. On the other 364 days of the year, you can listen to and connect with people who are affected by these disorders. If you or someone you love suffers from a rare disease, join a support group, outreach network, or advocacy group to increase the visibility of and attention focused on these rare diseases. And most importantly, donate to organizations that are working towards a cure.
In 2015, a banner year for the fight against rare diseases, 47 percent of new drug approvals were for medications used to treat rare diseases. There were 11 new cancer therapies, eight innovative first-in-class treatments, and five new medicines for pediatric patients. We have so much further to go in the fight to eradicate these conditions, but there's no reason we can't make 2018 the best year yet!
Want to help but not sure where to start? Keep scrolling to learn more a few rare diseases that could be cured with your assistance.
Alice in Wonderland Syndrome
Alice in Wonderland Syndrome (AIWS), also called Todd’s syndrome or Lilliputian hallucinations, is a neuropsychological condition that affects one’s visual perceptions. Named in 1955 by Dr. John Todd, AIWS is like a real-life version of Lewis Carroll’s famous story. AIWS can result in micropsia (objects appear smaller than they really are), macropsia (also known as megalopia; objects appear larger than they really are), teleopsia (objects appear farther away than they really are), pelopsia (objects appear closer than they really are), and metamorphopsia (straight lines appear wavy or deformed), among other symptoms. People who suffer from AIWS can also experience auditory hallucinations, as well as a change in the way they perceive time.
Currently, researchers are unsure what causes Alice in Wonderland Syndrome, but theories point to Epstein-Barr virus, migraines, brain tumors, temporal lobe epilepsy, and even medications like Topiramate, an anti-seizure drug. Because there is no known definite cause, there is no standard or proven treatment. In one instance, published in a 2014 article published in the Journal of Pediatric Neuroscience, researchers wrote that in the case of a six-year-old with AIWS, administering migraine prophylaxis and following a migraine diet "[afforded] immense relief" but wrote that “in all likelihood [the patient’s AIWS symptoms] will fade over a period of time.”
In a 2014 study published in the journal Pediatric Neurology, researchers reviewed the charts of 48 patients diagnosed with AIWS or Alice in Wonderland-like syndrome (AIWLS) and concluded that the condition mostly affects children. In at least half of the cases, patients complained of micropsia and/or teleopsia. Infection was the most common cause of AIWS in the study, but more than half the cases listed no obvious cause.
Aquagenic urticaria is a rare condition that causes the body to break out into small, itchy hives (urticaria) when it comes in contact with water. When the source of the water disappears, the rash will fade within 30 minute to an hour. It usually affects women, with symptoms first emerging around the time puberty starts, according to the National Institutes of Health.
Because aquagenic urticaria is so rare — the BBC reported that roughly one in every 230 million people are affected by it — researchers don’t know much about what causes it. Though it sounds like you’re essentially allergic to water, it could be that rather your body is reacting to an allergic in the water.
Data is limited when it comes to gauging the effectiveness of aquegenic urticaria treatments, and in the past, doctors have used H1 antihistamines, the heart drug Propranolol, phototherapy, Stanozolol, low-dose SSRIs, sodium bicarbonate baths, and creams that form a barrier between water and the skin.
Not surprisingly, those who suffer from aquagenic urticaria have a painful time bathing. In 2009, ABC News reported the case of 21-year-old Michaela Dutton. Dutton, who suffers from aquagenic urticaria, bathes for only 10 seconds each week because anymore is unbearable. She couldn’t even hold her three-year-old son for long in case he were to sweat on her.
Fish Odor Syndrome
Also known as Trimethylaminuria, or TMAU, fish odor syndrome is a metabolic condition that results from the body’s inability to break down nitrogenous compounds like trimethylamine. Your intestines produce trimethylamine —which has a fishy odor — when it breaks down certain foods, specifically eggs, fish, legumes, liver, and some vegetables. As trimethylamine levels build up over time, your body releases it through breath, reproductive fluids, sweat, and urine, which release that fishy smell. Generally, people who suffer from fish odor syndrome do not have any other health conditions, but the disorder often leads to psychological and social problems. Scientists don’t know why, but women are more likely to be afflicted with the disorder, according to the National Human Genome Research Institute. The thinking is that female sex hormones play a role in aggravating the condition.
There is neither a cure nor a single efficient treatment method for this largely inherited condition, but people suffering from fish odor syndrome can live normal, happy lives. Some helpful treatment options include washing with acidic soap, cleaning clothes on a consistent basis, and informing those afflicted that stress, fever, exercise, or any other activity that causes sweating can bring about the odor, according to a 2013 article published in The Journal of Clinical and Aesthetic Dematology. Avoiding foods that contain trimethylamine or any of its precursors, like choline, as well as ingesting activated charcoal, taking riboflavin supplement, or using laxatives are other natural remedies for fish odor syndrome. If need be, doctors can also prescribe antibiotics that reduce gut bacteria levels.
Alien Hand Syndrome
Alien hand syndrome (AHS), also known as anarchic hand syndrome, is a neurological disorder that is characterized by purpose-driven, involuntary hand movements; it’s as if the hand has a mind of its own. Symptoms of AHS include reaching or grasping involuntarily, touching one’s face, or tearing at clothes. In extreme cases, AHS can manifest as involuntarily shoving food in one’s mouth, self-inflicted punching or choking, and preventing the other hand from completing tasks. What differentiates AHS from something like a twitch is that the movement from the affected limb is goal-oriented; for example, the hand might try to button a shirt or pick up a glass of water. In Stanley Kubrick's Dr. Strangelove, the title character suffers from alien hand syndrome.
For patients, this can be a terrifying experience, and for doctors who aren’t familiar with the syndrome, it can be a confusing condition to diagnose. Damage to the corpus callosum — the region of the brain that connects both hemispheres and is believed to mediate complex behaviors — often resulting from a brain aneurysm, stroke, an infection in the brain, or brain surgery is believed to be the cause of AHS, according to Carol Turkington’s Encyclopedia of the Brain and Brain Disorders.
The rarity of this condition has made it difficult for experts to come up with a standard treatment, and there are currently no approved or recommended therapies for AHS. In more than one instance, researchers have seen improvements in patients with AHS after administering the sedative drug clonazepam or botulinum toxins. In other cases, people with AHS will simply hold something in the affected hand to keep it occupied or even tie their hand behind their back.
Fatal Familial Insomnia
Fatal familial insomnia (FFI) is a rare, inherited neurodegenerative prion disease that largely affects the thalamus; this portion of the brain controls the sleep-wake cycle and acts as a relay center for different parts of the brain to communicate with each other.
The symptoms of FFI generally appear around mid-life and manifest as “progressive insomnia, weight loss, lack of appetite, too high or too low body temperature, and rapidly progressive dementia,” according to the Genetic and Rare Diseases Information Center. Contrary to what the name would imply, insomnia is not always the first symptom of FFI. In some cases, the initial FFI symptom is progressive dementia. When those afflicted begin to experience insomnia, the onset is usually sudden and steadily worsens.
In 2001, the New York Times reported on the case of an Italian man named Giacomo. Though he died, presumably from FFI, in 1836, he passed on the disease to his descendants. At the time of publishing, at least 30 of his progeny had also died from FFI.
Currently, no cure for FFI exists, and death usually occurs within 12 to 18 months after the first symptoms. Researchers are working on a cure, but the small number of FFI cases make it difficult for experts to study the disease. In clinical trials, researchers have tried a number of drug treatments, including exposing asymptomatic carriers (meaning they have the gene but do not show any symptoms) to doxycycline over time, as well as testing small molecules and immunotherapy.