What To Know About A Rare Disease Impacting Black Women

Shamekka* may appear “normal” on the outside, but like so many others with connective tissue disease (CTD) — a broad term for disorders that affect the body’s organs, joints, and structural systems — she is very often living with a great deal of pain.^1,2 The 43-year-old mom of three tells Refinery29 she feels like a “hot mess” internally, with multiple symptoms (think fatigue, rashes, swelling, weakness, joint pain, and more) affecting multiple areas of her body almost constantly. Life, she adds, can be unpredictable, complex, and frustrating.

Out of the more than 200 different CTDs that are known to exist,² Shamekka has been diagnosed with five of them, one of which is scleroderma, where the immune system attempts to repair healthy tissue with extra collagen, causing hardening and tightening of the skin. Scleroderma is more than a skin condition, though — it can also cause serious lung complications such as pulmonary arterial hypertension (PAH),³ which is a rare, progressive disease⁴ marked by abnormally high blood pressure in the arteries of the lungs.⁵

PAH can occur in people with different CTDs,⁶ but it is most common in those with scleroderma.⁷ A study showed that Black women are especially vulnerable to it compared to other races — they're 2.5 times more likely to have it,⁸ in fact. Those with scleroderma can experience a delay in diagnosis of up to four years, so proper education about the disease is important.⁹

Shamekka spent years experiencing symptoms and finally decided to take matters into her own hands by researching her symptoms in an attempt to find clarity independently. Her own research led her to scleroderma-associated PAH — and more research told her she was at high risk for it. So, she started a conversation with her doctor (mentioning her symptoms and risk factors for scleroderma-associated PAH), who screened Shamekka and confirmed her suspicions. Now, Shamekka is passionate about spreading awareness for annual screenings for PAH with her community, knowing that the sooner you’re diagnosed, the sooner you can begin managing the condition.^10,11

As someone with both scleroderma and PAH, Shamekka knows first-hand how crucial it is to “project-manage your own body," which can look like researching, seeking out resources, learning which questions to ask her doctor, attending support groups, and more,¹² she says. It's a role she's particularly suited for since she works full-time as a product manager. She also hosts her own motivational podcast for others living with chronic illnesses. What's more, as a child, Shamekka learned the importance of taking charge of one’s health after witnessing her grandmother and mother endure chronic illness. “They had to fight all the time,” she says.

It’s a lesson that has the potential to be life-changing — and perhaps even lifesaving. Noticeable signs of PAH — shortness of breath¹³, fatigue, chest pain, swelling, and more¹⁰ — can be mild initially, but may worsen over time.^11,14

“Having CTD and PAH can often be a lonely world full of pain,” Shamekka says. “I hope people see me thriving [despite everything] and feel empowered. You are in charge of your body. You’re the best person to describe what’s going on. And your doctor will thank you for taking your health by the reins.” 

Visit UnmaskPAH.com to learn how to talk to your doctor about early screening for PAH and find a downloadable discussion guide with questions to consider asking your healthcare provider.

*Shamekka is a paid consultant for the Janssen Pharmaceutical Companies of Johnson & Johnson and contributed to this content based on her individual experiences. All thoughts and opinions expressed are solely hers and do not necessarily reflect the views of the Janssen Pharmaceutical Companies of Johnson & Johnson.

Actelion Pharmaceuticals US, Inc. 2023 09/23 cp-404510v1