Remember the “ Ice Bucket Challenge ” from a few years ago ? Thanks to this celebrity - fuel craze , this " rare disease " was shoved under the public ’s eye and received $ 115 million dollars in funding donations in just 30 24-hour interval , helpingprovide a major genic breakthroughtowards empathise the disease .
Today isRare Disease Day – an annual call to arms to raise awareness of the 7,000 - odd “ rare diseases ” that impact millions of people each day .
In the US , a disease is determine as rare if it impact fewer than 200,000 Americans at any given time . In Europe , a disease is defined as rarefied when it affects few than one in 2,000 . So while the term “ uncommon disease ” might suggest otherwise , there are around 350 million hoi polloi out there inhabit with one of these rare diseases . Many more perhaps go undiagnosed or misdiagnosed .
The trouble lies in awareness , diagnosis , funding , and research . Rare disease and disorders are less likely to receive the funding and awareness required to accelerate inquiry .
While the more prevalent diseases such as cancer , heart disease , and stroking intelligibly take priority in scientific discipline ’s “ things to do list ” , it ’s all important these millions of hoi polloi with rarer disease do n’t get leave behind .
But while there ’s a lot of employment to be done , the past few yr have shownprogress when it derive to uncommon disease research . In 2015 , 47 percent of novel fresh drug approvals were for rare diseases , and 566 medicines are in exploitation for patients with rarified diseases .
Here ’s just a handful of rare diseases that with a small more attention , financial backing , and research could improve the lives of many . From the fascinating to the well - known achiever story , all of these disease can be base in theOrphanet Report Series(PDF ) on rarified disease in 2016 .
Fibrodysplasia ossificans progressiva , aka “ Stone Man Syndrome ”
“ Stone Man Syndrome ” ( trope right ) is a genetical disorder that turn soft tissues , like muscle tissue paper and connective tissue paper , into ivory . Eventually , movement becomes severely constrained and bone begins to grow on the outside of the consistence . Only a few hundred cases have been reported and there is lilliputian in the agency of aesculapian discussion .
range of a skeleton with Fibrodysplasia ossificans progressiva . Joh - co / Wikimedia Commons CC BY - SA 3.0
Böök syndrome
This condition is characterized by a deficiency of premolar tooth , excessively sweaty men , and a premature graying of the hair . Originally described by Swedish geneticist Jan Jarvid Böök in the 1950s , just 26 published showcase of this disease have been reported .
Chronic hiccup
This rarefied disease is pretty much what it sound like – hiccups that last for drawn-out periods of time , ranging from calendar week to years to tenner . The long document episode live on 60 age . As unusual as it may seem , this debilitating illness affects up to one out of every 100,000 people .
Multiple Myeloma
Multiple Myeloma is another success story of increase awareness and research . Thanks to the improvement of two first - class medicine okay in 2015 , the severity of this rarified kind of os marrow Crab has adopt a beating . This form of cancer hap in blood plasma cells , a type of white blood cell that ’s normally responsible for producing antibodies . New treatment help spark the immune arrangement to attack the cancerous cells and reduce the size of tumors .
Cystic fibrosis
Cystic fibrosis might be one of the advantageously know rare diseases . These person see a buildup of heavyset , sticky mucus in the lung , digestive system , and other organs . As one of the “ large names ” of the rarefied disease dictionary , treatment of this disease has grown a huge amount over the past ten .
wench headed - nanism , Montreal case
There are only three published cases of this disease , which is characterized by a low birth weight , small head , narrow pointed face , a snout - corresponding olfactory organ , gravid eyes , and noetic disability .
Epidermodysplasia verruciformis , aka “ Tree Man syndrome ”
A few months ago , Abul Bajandar from Bangladesh ( below ) became the first personto have been potentially curedofEpidermodysplasia verruciformis . This transmitted condition is characterized by an uttermost susceptibleness to HPV , the human papillomaviruses , causing an uncontrollable outburst of scaly wart to grow on the someone ’s body , often said to resemble tree diagram bark .
AbulBajandar , one of the most celebrated cases of Epidermodysplasia verruciformis . Monirul Alam / Wikimedia Commons CC BY - SA 4.0
