An article from Comic Sands recently covered the story of a UK mother, Alison Beesley, who is now committed to taking care of her daughters Eliza and Eleanor full time. Eliza is nine years old and Eleanor is six. Alison has to focus on their care because both of them have a rare disease called scleroderma, which is an autoimmune disease that can cause hardened connective tissue and thickened skin, among other symptoms.
Scleroderma, which is also referred to as systemic sclerosis, describes a group of autoimmune diseases that can cause system-wide effects in the most severe cases. The mechanism of this disease is believed to be an autoimmune response in which the immune system mistakenly attacks body tissue. Some factors that may contribute to triggering the autoimmune response include mutations of the HLA genes and exposure to certain materials, such as certain solvents, white spirits, ketones, and silica. Symptoms are broad ranging and systemic, including kidney failure, erectile dysfunction, fatigue, stroke, headaches, facial pain, congestive heart failure, skin abnormalities, high blood pressure, chest pain, indigestion, and many more. Treatments are varied and depend on the symptoms, but most patients take medications in an attempt to suppress the autoimmune response. In severe cases, life expectancy is around 11 years from onset. To learn more about scleroderma, click here.
Even Rarer in Families
Only in a very limited number of cases does scleroderma appear to run in families and it’s exceptionally uncommon for two sisters to be affected by this rare illness– in fact, very little research exists on this situations. The first signs appeared in Eliza as patches of darkened, thick skin that at first resembled bruises but never disappeared. Initially, her doctor prescribed different creams for fungal infections, but they didn’t seem to help. More marks appeared and grew, dermatologist referrals were made– but eventually, Alison found answers through her own research online. She contacted a scleroderma expert at Liverpool Alder Hey Children’s Hospital, who helped pave the way for an official diagnosis. Eliza was diagnosed around a year after these early signs appeared.
Eliza was first treated with immune system suppressants like methotrexate and steroids. For a brief time she also received an injected form of medication but Eliza grew to fear the treatment. She would hide under her bed, because she was so young, she didn’t understand why it was necessary. The administration became far too difficult.
Now both Eliza and Eleanor are being treated with mychophenolate mofetil, which is taken twice a day in tablet form. Doctors say that in about seven years, the condition could leave on its own– but that doesn’t mean there won’t be a recurrence. While the girls currently feels at ease talking about the condition, Alison shares that she does worry that as they grow older, they may feel self-conscious about the visual marks scleroderma has left.
While things are okay for the family at this juncture, Alison says that she plans to do what she can to spread awareness about scleroderma. She hopes that other families will have an easier time finding a diagnosis, and that doctors know to look out for the symptoms.