RARE DISEASE DAY

Today is Leap Day, which only comes upon us every 4 years. The odds of being born on Leap Day are 1 in 1,461, which is about 4 million people worldwide…a pretty small group, considering.

But today is also Rare Disease Day, which is celebrated on the last day of February each year. By definition, a disease is considered “rare” in the US if it effects less than 200,000 people, a much smaller group. There are over 6000 different rare diseases; 80% are genetic in nature, while others are the result of infections (bacterial or viral), allergies, or environmental factors. 50% of rare diseases touch children.

One such rare disease touched Shyloh, an infusion RN here at Infusion Solutions. When she was two years old, her father noticed a soft spot on her head that was concerning. They got it checked out, and Shyloh was subsequently diagnosed with Langerhans Cell Histiocytosis (LCH)–a 1 in 200,000 diagnosis.

LCH, like all histiocytic disorders, involves an abnormal increase in the number of immune cells called histiocytes. Normally these cells would help prevent and fight off infections, but in cases where there are too many, they turn against your body’s own tissues to form tumors or damage organs. In Shyloh’s case, her cells targeted the bones in her skull, ribs, jaw, and right shoulder.

Once diagnosed, Shyloh was treated by an oncologist at the Naval Hospital in San Diego. From the age of 2.5-5 years, she underwent two rounds of chemotherapy and radiation. She had two central lines placed, and had a plastic plate placed on the left side of her skull. She had to wear a bike helmet everyday to protect her head. She still has the helmet–it is decorated with stickers that she would get after her many doctor visits. Although her LCH did go into remission when she was 5, the damage to her facial bones later necessitated a great deal of oral surgery. She had complete reconstruction of her jaw when she was 13, and that process did not stop until she was 17. Braces, normally the biggest bane of high school youth, was just another of a long list of interventions that Shyloh had to endure.

Shyloh still lives with the effects of LCH today. Her jaw is still troublesome, and she gets migraine headaches from time to time. Her right arm is shorter than her left. She periodically looks at her labs to make sure that nothing is out of whack and that the disease is still in remission. But perhaps the biggest effect is that LCH inspired Shyloh to go into nursing, which is now her life’s passion. Because of her personal experiences with disease, she has a great deal of empathy for those who are suffering–no matter how rare or common. It is this rare perspective that makes Shyloh such an outstanding nurse, and we are happy she is on our team!

Please take a look at the video and support Rare Disease Day!

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