The Sunday News
Roselyn Kapungu
HAVE you ever had someone tell you they have a disease you have never heard of? If I asked you how many people you know have Mixed Connective Tissue Disease, Buerger’s disease, Scleroderma, Raynaud’s disease or Ankylosing Spondylitis, could you name one?
Rare diseases are extremely uncommon – they often have low prevalence among the population and a high level of complexity. They are usually difficult to diagnose, are chronic, progressive, degenerative, and can be life-threatening.
Rare diseases are often misunderstood, relatively unknown even to health professionals, and usually difficult to diagnose. It can take years to reach an accurate diagnosis. Treatment is often complex or unavailable and approved treatments are limited as there is often little research on these diseases. Moreover, there is no cure for many rare diseases. All this makes rare diseases devastating and costly for patients, families and health systems. Less than 6 per cent of the population globally live with one or more of over 6 000 rare diseases identified around the world.
Every last day of February each year (28 February 2021), the world commemorates Rare Disease Day with the main objective to raise awareness and increase knowledge on rare diseases among the public, policy makers, researchers, health professionals, for a better quality of life for those living with rare diseases.
I have been living with a rare disease for the past eight years, Raynaud’s disease, also known as Raynaud’s syndrome and Raynaud’s phenomenon. Raynaud’s occurs when blood vessels in the extremities of the body are over-sensitive – and in response to triggers like temperature changes, emotional or hormonal changes and stress – become narrow and restrict blood circulation to those areas. This results in pain, numbness and change in colour (usually of the hands, fingers, toes and feet) from white to blue to red. A Raynaud’s attack can also affect the lips, nose and ears in the same way.
There are two types of Raynaud’s disease – primary and secondary – the former which occurs by itself and is not associated with any other health issues. Secondary Raynaud’s, which is less common, is caused by an autoimmune condition, such as scleroderma, or Mixed Connective Tissue Disease that causes the blood vessels to constrict. That is what I have.
Although Raynaud’s is a rare condition, its association with autoimmune diseases is what eventually helped in my lupus diagnosis in 2014, after visiting six doctors over a period of a year. Systemic Lupus Erythematosus, or Lupus, is a disease that occurs when the body’s immune system attacks its own tissues and organs, causing inflammation that can affect different systems including skin, joints, kidneys, brain, heart and lungs. Lupus is difficult to diagnose because its symptoms often mimic those of other diseases.
While the distinctive sign of lupus is a facial rash across the cheeks that resembles the wings of a butterfly, this may not always occur. I did not have the distinctive lupus butterfly rash but exhibited some of the common signs and symptoms such as fever, fatigue, chest pain, shortness of breath, headaches, photosensitivity, and the rare, Raynaud’s phenomenon.
Fortunately for me, the Specialist Physician who eventually diagnosed me recalled from the literature, the association between Raynaud’s and lupus, and conducted the necessary tests. The doctor even asked me for photographs of my Raynaud’s-affected hands for him to use in a lecture – to show students a real-life example of the condition, which he himself had not encountered before.
Raising awareness on rare diseases saves lives – delayed diagnosis means delayed treatment. When someone gets a diagnosis, they can begin to get proper treatment, they know more about the disease and have more accurate information about how to manage it and care for themselves. They can seek the right care and seek out community support.
If you or someone you know suffers from persistent symptoms that are unusual and have not been explained, talk to your doctor about a more in-depth investigation of potential disease possibilities. While many rare diseases have no cure, there are treatments that can relieve symptoms or help people live well with these diseases.
About the author
Roselyn Kapungu has been living with Lupus since 2014 and is actively engaged in raising awareness on autoimmune diseases. Together with other patients, she leads patient and caregiver support groups for autoimmune diseases in Zimbabwe. The information provided in this article does not constitute professional medical advice or basis for diagnosis. Please seek professional medical assistance if you suspect you have an autoimmune or a rare disease.
For more information visit Facebook @lupusandautoimmunesupportzim.zw or Instagram @autoimmunesupportzimbabwe
