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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 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.
1. “Connective Tissue Disease: Taber’s Medical Dictionary.” Connective Tissue Disease | Taber’s Medical Dictionary, September 8, 2016.
2. “Connective Tissue Disease: Types, Diagnosis, Symptoms & Causes.” Cleveland Clinic, April 10, 2022. 
3. “Pulmonary Hypertension & Scleroderma.” Pulmonary Hypertension Association, April 14, 2022.
4. Miotti, Cristiano, Silvia Papa, Giovanna Manzi, Gianmarco Scoccia, Federico Luongo, Federica Toto, Claudia Malerba, et al. “The Growing Role of Echocardiography in Pulmonary Arterial Hypertension Risk Stratification: The Missing Piece.” Journal of Clinical Medicine 10, no. 4 (2021): 619.
5. Farber, Harrison W., and Joseph Loscalzo. “Pulmonary Arterial Hypertension.” New England Journal of Medicine 351, no. 16 (2004): 1655–65. 
6. Khanna, D., H. Gladue, J. Fitzgerald, R. Channick, L. Chung, O. Distler, D. Furst, et al. “Recommendations for Screening and Detection of Connective-Tissue Disease Associated Pulmonary Arterial Hypertension.” Annals of the Rheumatic Diseases 72, no. Suppl 3 (2013). 
7. Fischer, Aryeh, Todd M. Bull, and Virginia D. Steen. “Practical Approach to Screening for Scleroderma-Associated Pulmonary Arterial Hypertension.” Arthritis Care & Research 64, no. 3 (2012): 303–10. 
8. Al‐Naamani, Nadine, Jessica K. Paulus, Kari E. Roberts, Michael W. Pauciulo, Katie Lutz, William C. Nichols, and Steven M. Kawut. “Racial and Ethnic Differences in Pulmonary Arterial Hypertension.” Pulmonary Circulation 7, no. 4 (2017): 793–96. 
9. Hachulla, Eric, David Launay, Pierre Clerson, and Marc Humbert. “Is Pulmonary Arterial Hypertension Really a Late Complication of Systemic Sclerosis?” Chest 138, no. 2 (2010): 462–63. 
10. Humbert, Marc, Gabor Kovacs, Marius M Hoeper, Roberto Badagliacca, Rolf M Berger, Margarita Brida, Jørn Carlsen, et al. “2022 ESC/ERS Guidelines for the Diagnosis and Treatment of Pulmonary Hypertension.” European Heart Journal 43, no. 38 (2022): 3618–3731. 
11. Vachiery, J.-L., and S. Gaine. “Challenges in the Diagnosis and Treatment of Pulmonary Arterial Hypertension.” European Respiratory Review 21, no. 126 (2012): 313–20. 
12. Graarup, Jytte, Pisana Ferrari, and Luke S. Howard. “Patient Engagement and Self-Management in Pulmonary Arterial Hypertension.” European Respiratory Review 25, no. 142 (2016): 399–407. 
13. Association, A. L. (2021). Pulmonary arterial hypertension symptoms, causes and risk factors. American Lung Association. 
14.  “Pulmonary Arterial Hypertension Symptoms and Diagnosis.” American Lung Association, June 6, 2023.
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