Nellie’s Journey with Mastocytosis

Nellie’s Journey with Mastocytosis

In 2009 Nellie started developing little spots all over her body. At first, they appeared to be bruises, but as more spots surfaced, I knew something wasn't right. I took her to our primary care doctor, who referred us to a dermatologist for further evaluation.

The dermatologist we saw was less than impressive. He made a shocking insinuation, suggesting that the spots looked like someone had been burning her with cigarettes. This accusation was not only upsetting but also entirely unfounded. Despite his unprofessional behavior, he took a chunk of her skin for testing. The results came back, revealing that Nellie had mastocytosis.

Mastocytosis (mas-toe-sigh-toe-sis) is a disorder caused by having too many mast cells in a person's body. Mast cells are a type of blood cell located in the skin, the linings of the stomach and intestine, and connective tissues such as cartilage or tendons. These cells are crucial for survival, defending the skin, stomach, and intestine against disease and playing a role in wound healing.

Mastocytosis can occur at any age, but it is usually more serious in adults. In children, mastocytosis is often mild, and many children outgrow it as they age. There are two main types of mastocytosis: cutaneous (skin) and systemic. Each type has different forms. The most common cutaneous form is called urticaria pigmentosa, which occurs when mast cells infiltrate the skin. This form of mastocytosis was first reported in scientific literature in 1933.

Systemic mastocytosis involves the accumulation of mast cells in various tissues and can affect organs such as the liver, spleen, bone marrow, and small intestine.

The exact cause of mastocytosis remains unknown, and while it cannot be cured, it can be managed. Doctors can prescribe medication to alleviate the symptoms, providing relief to those affected by this condition.

Fortunately for Nellie, she has outgrown most of her mastocytosis. Today, she has just a few spots left, with most of them having cleared up. Seeing Nellie's condition improve has been a huge relief. Our experience has taught us the importance of persistence and advocating for proper medical care. Despite the initial scare and missteps, we are grateful for Nellie's progress and look forward to her continued health and happiness.