How I Honor My Son on Rare Disease Day

My son is 19 months old and has mast cell activation syndrome (MCAS), a rare condition that affects every aspect of his life. The past 19 months have been a journey as we learned to navigate this challenging condition while keeping him as healthy and safe as possible. My son can have severe reactions to practically anything, including most foods, heat, cold, scents, perfumes, cleaning agents, medicines, stress, pain, fatigue, and several environmental triggers. He takes four medicines several times a day (all compounded free of dyes, preservatives, and flavors), and he has other rescue medicines for acute flares.

MCAS caused him to have a diagnosis of failure to thrive during his first year of life, as he was unable to tolerate breast milk or any formula, including every hypoallergenic elemental formula on the market. I pumped around the clock, eating only three foods to avoid triggers, only to find that he was not absorbing nutrients and his gut was rejecting my milk. It was not until we started him on a modular formula, gave him an effective cocktail of meds, and made significant lifestyle changes did we start to see some weight gain. He is now close to the 17th percentile for weight (up from < 1st percentile a year ago), and we are so proud of him for his resilience. No matter how much he has been through, he is still the sweetest, happiest, incredible little boy. He has the most amazing attitude and character.

I often hear from friends and family that he looks so good. It’s true – he really does. He has an army of incredible doctors, pharmacists, family, and friends working so hard to help him looking and feeling as good as he does. But with MCAS, there are bad times too. Sometimes they are subtle, and sometimes they are invisible, but they are always just a moment away. Rare diseases give you a double punch of a complex medical condition and a condition that no one understands or people don’t believe because they cannot see it.

A family of three dressed as the Incredibles.

Knowing what you know now about my son, you may see him differently, and that is OK. He is different, and also beautiful and remarkable and unique and special. Seeing him for who he is and what he has, and acknowledging and respecting the reality of his condition is what keeps him safe.

Spread awareness, spread love and spread kindness. Rare disease Day is February 28, but let us celebrate the successes and acknowledge the challenges of living with a rare disease every day this month and throughout the year.

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