The world marks every 28th day of February as a Rare Disease Day.
Many a times, when we come across people suffering from these diseases they look like they have no cure.
In Africa and Nigeria especially, cases of diseases are often termed “spiritual attacks” because they are diseases doctors cannoy easily detect with their usual methods. They seldom encounter such ailments.
According to statistics, there are about 6000 rare diseases with over 300 million people being affected.
A disease is considered a rare disease when it affects five out of 10,000 people. Most of the diseases are genetically based.
They are also called ‘Orphan diseases‘ often serious, chronic and life-threatening.
Today, the 28th day of February is another special day to raise awareness about these rare disorders and the patients living with them.
The rare disease presents itself with difficulty to diagnose, overwhelming medical symptoms, limited or no treatment options yet. It can be so devastating and symptoms may begin to show after a few weeks or months of birth. Most children affected do not get to see their 5th year birthdays and for the few who survive it, they live with major impairment or deformity with regular visits to the hospital and it takes about seven years to get a diagnosis for a rare disease but most of the disease still go undiagnosed.
The International Rare Diseases Research Consortium (IRDiRC) has collaborated with international organizations to conduct more research to advance the fight against rare disease but “despite these positive developments, the burden of rare diseases continues to persist for several reasons” such as no knowledge of the root cause of disease, only a few patients affected, widely dispersed people affected, limited clinical expertise and centers. These challenges pose serious difficulty to treatment and diagnosis.
Another major problem with treating rare diseases is that it is not profitable. Pharmaceutical companies are in it for business even though they also save lives, They are not willing to invest so much time and funds into research to produce drugs that only about 2 percent of the world population will benefit from.
Take a look at the coronavirus vaccine, many people and organizations began to research about the virus; donors and governments invested billions of dollars into it because of the urgency of the situation but only two major companies (Moderna and Pfizer) were able to quickly come up with vaccines that were up to 90 percent viable with over half of the world’s population needing this vaccine. This is the kind of business pharmaceuticals are interested in and not a handful of people. it’s been forecasted that Moderna and Pfizer will cash in with so much profit this year.
Rare diseases may oftentimes develop from birth but some others can begin at adolescence or adulthood.
Types of rare disease
- Canavan disease: this is a progressive fatal neurological disorder that begins in infancy. It is caused by some inherited abnormality in genetics. This disease has varying symptoms that usually begin to show from 3-9 months and the life expectancy for these kids is between 10-14 years. Symptoms include, increase in head circumference, loss of head control, abnormal muscle tone, and after a while they may begin to have seizures, difficulty swallowing, paralysis, blindness, and deafness.
Canavan disease currently has no cure, the symptoms can only be managed and are mostly found amongst people of German and Eastern European descent.
- DRESS (Drug reaction eosinophilia and systemic symptoms). It is characterized by skin eruptions that look like a rash. This is not a birth disease but it can be triggered by drugs, especially antibiotics, anti-inflammatory and anti-epilepsy drugs at any time in life. It is a life-threatening hypersensitivity drug reaction and affects most of the internal organs and can trigger other dormant viruses like HPV.
The exact cause of DRESS is not known and doctors don’t know how to test for it yet. They advise that you observe yourself for the following when you begin a new medication.
- Unusual itch
- Hives
- swollen lips
- Tenderness of the skin,
- and redness all over the body.
- Larsen syndrome: is a chromosomal dysfunction that affects one out of 100,000 individuals. It is a disorder that affects the development of bones. This disease may include numerous joint dislocations at birth; knee, wrist, foot, elbow, hips, and ankle. Other features are club foot, square shape fingertips, very distinctive facial features like depressed nose bridge and flat face, and flexible joints. The disease also presents short stature and abnormal curvature of the spine that often result in difficulty walking and weakness of arms. The symptoms of this disease may vary from person to person and treatment is based on symptoms that are unique to an individual but major treatments involve joint manipulation and corrective casts; orthopedic surgeries may also be carried out to correct skeletal dislocations and deformities.
- Sanfilippo disease is a rare genetic disorder that affects about 100 people in the world. This disease attacks the central nervous system and primarily affects the brain and spinal cord. it’s a terminal degenerate disorder in children and the symptoms tend to look like autism leading to misdiagnosis in most cases. The Cognitive function degenerates and eventually leads to dementia, it is a terminal disease that still has no known cure but clinical trials are also ongoing.
- Muscular dystrophy: This is a muscular debilitating disease. as kids, they crawl all through, and in their teenage years they spend it on a wheelchair, most of those affected don’t live beyond 30years. Muscular dystrophy is a group of diseases that progressively causes weakness and loss of muscle mass. Here abnormal genes interfere with the production of protein required for muscle growth. This disease is common in boys because it attacks the X chromosome. Men have XY why women have XX that’s why one out of 3500 boys have muscular dystrophy.
There is no cure for this disease but it can be managed in certain ways to slow the symptoms and course of the disease. Gene therapy is the Treatment that manages this disease till failure
There are so many other types of rare diseases, you can read more here.
What is the difference between rare disease and no diagnosis?
In as much as we know that rare diseases are difficult to diagnose or seldom diagnosed, not all undiagnosed cases are rare diseases. There are different groups of undiagnosed cases.
- The undiagnosed {syndrome without a name} These cases are often referred to as rare because diagnostic tests are not available and the cause is still unidentified, at this point patients can be misdiagnosed because the symptoms may present themselves as a familiar disease and treated as such. These diseases are often genetic with patients often needing caregivers.
- The not yet diagnosed category: Oftentimes cases go undiagnosed because they have not been referred to a specialist, due to the misleading and common symptoms or a clinical presentation of a known rare condition.
This goes to say that not all undiagnosed cases are rare diseases, some patients suffer for months and some even lose their lives without a diagnosis that would require a specialist or a doctor with vast experience to point out the cause.
Living with an undiagnosed disease can be challenging, That is why getting a diagnosis is very important because it unlocks access to effective healthcare and immediate treatment. It is essential to identify when a patient has a rare condition and when it is a misleading rare condition and needs a specialist to diagnose.
Takeaway
Rare Disease Day offers hope and awareness for people living with mysterious conditions, their family, and caregivers to know that the world is fully involved in this with them. We hope you choose to beat the odds and find some glimmer of hope.
People with rare conditions often feel isolated and worn out from trying to find a solution and diagnosis, be assured that lots of clinical trials are ongoing especially in the US and some people work tirelessly to make sure these diseases have a diagnosis and treatment.
The rare disease day community has set up a platform with so many ways each individual can get involved to raise awareness and possible treatment in the future, click to see how you can be a part of the rare disease day.