Elizabeth Onuoha-Ozumba’s friend called her after noticing her absence at an event they were meant to attend together. Onuoha-Ozumba’s symptoms, which she had been experiencing for over eight months, had worsened significantly that day.

Her fingers were visibly inflamed, and certain areas of her skin had become hard and thick. The pain in her joints made even the simplest movements difficult for her. Furthermore, she had developed an unusual sensitivity to sunlight, causing her facial skin to feel tightly stretched. She also experienced persistent itching throughout her body.

Upon visiting the hospital, Onuoha-Ozumba, in her 30s at the time, was told that there was no apparent issue with her health. However, firmly convinced that something was indeed amiss, she persisted and requested her blood sample be sent to India for additional testing. It was through these tests that she was ultimately diagnosed with scleroderma, a chronic autoimmune condition.

The malady was something she had never heard about, a common occurrence with the rare disease, which only has 1884 documented cases in Sub-Saharan Africa.

Autoimmune disorders fall under the umbrella term, where the body’s immune system, which is meant to safeguard the body, inexplicably starts attacking healthy tissues. "Basically, my immune system is trying to kill me,” Onuoha-Ozumba summarised in a recent interview.

The Pan African Medical Journal (PAMJ) published a comprehensive article shedding light on this lesser-studied and devastating condition that predominantly affects women.

Scleroderma, also known as "Systemic sclerosis (SSc)” is a chronic, autoimmune disease with a multisystem vasculopathy and an immense increase of fibrous tissue in affected organs,” the journal explains.

Even in high-income societies, SSc carries a grim prognosis, with approximately 55 per cent of affected patients succumbing directly to the consequences of the disease. In Africa, patients affected by SSc ranged in age from 4 to 77 years, with females accounting for 83 per cent of the cases. Overall, 72 per cent of the patients exhibited diffuse SSc.

PAMJ wrote that while extensive research has been conducted on the epidemiology, clinical characteristics, and progression of organ involvement in systemic sclerosis within economically developed countries, "further robust data of SSc presentations in sub-Saharan Africa are largely lacking.”

Through research, The New Times discovered that there is only a single known rheumatologist in Rwanda, who unfortunately was unavailable for contact during the time of the article. This scarcity of specialised medical professionals implies that there is a high likelihood of scleroderma cases in Rwanda going undiagnosed.

Onuoha-Ozumba remarked that part of the reason for this knowledge gap could be attributed to "a tendency to interpret illnesses through a psychological lens or attribute unexplained symptoms to witchcraft, leading patients to seek assistance from traditional healers and herbal medicine practitioners.”

"Hearing ‘you will get better’ irritated and wore me out. People often fail to realise that, unlike malaria or a headache, which can be treated with drugs and injections, Scleroderma does not improve with treatment. Scleroderma persists and steals every aspect of your life: relationships, friendships, employment—everything,” said Onuoha-Ozumba.

Multiple risks

The exact cause of scleroderma remains unknown, but researchers speculate that a combination of factors may contribute to its development. These factors include genetic makeup, exposure to certain environmental triggers such as viruses or chemicals, immune system alterations, and hormonal differences between women and men, which may all play a role in the disease.

Scleroderma manifests in two main forms: localised scleroderma and systemic scleroderma, also known as systemic sclerosis. Localised scleroderma primarily affects the skin and underlying structures directly beneath it. On the other hand, systemic scleroderma affects multiple systems within the body, making it the more severe form of the condition. Systemic scleroderma can lead to damage in blood vessels and internal organs such as the heart, lungs, and kidneys, resulting in severe complications and potentially lifelong health problems for those affected.

In their research, PAMJ discovered significant findings among patients living with systemic sclerosis in Africa. Raynaud’s phenomenon, characterised by reduced blood flow to extremities in response to cold or stress, was reported in 78 per cent of patients. Skin ulcerations were observed in 42 per cent of cases, while focal skin hypopigmentation was common, although telangiectasia was infrequent.

Interstitial lung involvement was documented in 50 per cent of patients, pulmonary hypertension in 30 per cent, and heart involvement in 28 per cent. Additionally, oesophageal reflux was observed in 70 per cent of patients, and dysphagia, and difficulty swallowing, affected 37 per cent of individuals.

"So far, my digestive system has been the most significantly impacted among my internal organs. It has reached a point where I struggle to digest food, making it challenging for me to consume three meals a day,” Onuoha-Ozumba said.

"I have adjusted my eating habits and now opt for a single large meal per day, typically around 3 or 4pm.”

In a recent episode of exacerbated symptoms, Onuoha-Ozumba observed the spreading of pigmentation to her legs. Promptly, her doctors prescribed a potent immunosuppressant, which, she recounts, resulted in distressing side effects.

"Fortunately, we managed to halt the progression of pigmentation spread, but the uncertainty of the future remains,” she shared. At one point, she underwent chemotherapy sessions to counteract a severe flare-up.

When it comes to women’s reproductive health in relation to the disease, The National Health Service UK stated, "Women with systemic sclerosis may find it harder to get pregnant and could have a slightly higher risk of miscarriage and giving birth prematurely.”

With proper planning and consultation with a healthcare professional during a stable period of the condition, however, there is no inherent reason why a woman with systemic sclerosis cannot experience a successful pregnancy.

Onuoha-Ozumba, a staunch advocate for raising awareness, has consistently shared her experiences and knowledge about the disease.

In 2018, she authored a book titled "Living with Scleroderma: A Survivor's Story of Hope Against All Odds,” in which she chronicles her personal journey battling the condition.

The book serves as an encouragement for people facing similar challenges, urging them to find their voices and share their stories.

Living with a little-known disease can be an isolating experience. The loneliness intensifies when even medical professionals struggle to recognise or provide clear guidance on what lies ahead.

To address this sense of isolation and raise awareness, Scleroderma Awareness Day was established. Every June 29, this day serves as an opportunity to educate people, including the medical community, about the impact of this debilitating disease. It is a day to honour the courage of those living with scleroderma and advocate for equitable treatment and care for individuals affected by scleroderma worldwide.

In her book, Onuoha-Ozumba wrote: "Scleroderma is not contagious and it is not a death sentence, people need to understand and empathise with people living with medically challenging conditions.”

She went on, "Scleroderma just like other conditions such as HIV/AIDS, diabetes, etc. can be managed. The only difference is that while other conditions may have a cure or drugs tailored towards controlling them, science is yet to find a cure for scleroderma nor tailor-made drugs to treat it.”