How Rare Diseases Impact Daily Life: Scleroderma

Elisabeth Kugler, PhD, founder of Zeeks, a patient with a rare disease, discusses her scleroderma and Raynaud’s diagnosis.
Scleroderma is a rare connective tissue autoimmune disease that causes inflammation and fibrosis in the skin and other areas of the body. Scleroderma occurs when an immune response tricks tissues into thinking they are injured, causing inflammation and the body to make too much collagen. Too much collagen in your skin and other tissues causes areas of tight, hard skin. The exact cause of this is unknown. Scleroderma may involve many systems in your body.
There are two major types of scleroderma:
- Localized scleroderma only affects the skin and the structures directly under the skin.
- Systemic scleroderma, also called systemic sclerosis, affects many systems in the body. This is the more serious type of scleroderma and can damage your blood vessels and internal organs, such as the heart, lungs, and kidneys. This subset is also divided into two additional categories called "limited" and "diffuse" which represents how much skin involvement there is in the body.
There is no cure for scleroderma. Current treatment focuses on symptom management and the slowing of the progression of the disease.
Raynaud’s phenomenon is a condition that causes the blood vessels in the extremities to narrow, restricting blood flow. The episodes or “attacks” usually affect the fingers and toes. In rare cases, attacks occur in other areas such as the ears or nose. An attack usually happens from exposure to cold or emotional stress.
There are two types of Raynaud’s phenomenon-primary and secondary. The primary form has no known cause, but the secondary form is related to another health issue, especially autoimmune diseases like lupus or scleroderma. The secondary form tends to be more serious and to need more aggressive treatment.
Elisabeth’s chronic condition has led to over 100 in person hospital appointments in the past three years. One case had her immobile with a flare up that had her C-reactive protein levels at 195 mg. Ever the scientist, Elisabeth has taken part in 14 research studies in the past four years to improve our understanding of rare chronic conditions. These studies included questionnaires, non-invasive imaging, genetic testing, and biopsies.
Chapters:
Intro 00:00
Diagnostic Journey 00:27
Scleroderma Overview 5:59
Signs and Symptoms 7:20
Current Management 8:54
What Physicians Should Know 11:20
Obstacles of Patients With Rare Diseases 13:17

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Thank you for sharing your journey ❤

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It’s just stress 😭😭😭🙃