Fighting a rare and incurable disease

Our sister Donna was diagnosed with Sarcoidosis, an auto inflammatory disease, in 2022. It began in her lungs, like 90% of sufferers. In 2023 Neuro-sarcoidosis was added (the brain and central nervous system, 5% of sufferers), closely followed by peripheral neuropathy (symptoms include weakness, burning pain, issues with bodily functions). Donna was subsequently medically retired as she is no longer able to work.

Affecting 1.2 million people worldwide, Sarcoidosis can affect any organ. It’s rare, known as the snowflake disease as no two cases are alike. While not effectively terminal it does take lives, particularly when in organs such as lungs, heart, and brain. The disease creates granulomas which calcify (harden) in the affected organ. Among others Michael Clarke Duncan (The Green Mile) lost his life to this disease. Remission is likely for many sufferers but there is no cure.

Donna has been unable to achieve remission and is now chronic and progressive (10-30% of sufferers). She has been told remission would now take several years; and she may continue to decline. Donna’s bones and muscles are affected and she needs a hip replacement, imaging has also shown calcification in her aorta. She continues to wait for the next steps in our overstretched hospitals; regardless, treatment is limited and Donna is on the only medical treatment 'cocktail' there is.

She experiences vision loss, reduced hearing, constant tiredness, muscle and bone aches, body weakness, headaches, dizziness, balance problems, memory loss, confusion, jumbling up words, trouble processing information and more. Donna was advised this inflammation causes other issues and since diagnosis has had invasive basal cell carcinomas resulting in significant surgery requiring reconstruction, and now needs cataracts removed from both eyes, and two further investigations of new issues.

Donna is single and had to sell her home in our market downturn as she cannot work, leaving her in significant debt. This disease impacts those she loves, and has taken a large part of the life she knew.