One in a Million: Sophia is the Youngest to be Diagnosed with HES

April 12, 2013

On March 18, 2012, Sophia had her first signs that she wasn’t quite the super healthy little girl we had brought into the world in October 2010. She awoke early in the morning fussing, which was not entirely uncommon, so I tried giving her a bottle to help her settle down, and she continued to fuss.

After about 20 minutes of trying to get her to suck on her bottle, my husband and I realized that she couldn’t use the left side of her mouth. Another few minutes later, we realized she couldn’t use the entire left side of her body. After a quick call to the hospital and her doctor’s office, we rushed her to the emergency room. That was the first day in the hospital for Sophia since the day after she was born.

She had never had any type of illness, not even a cold, so this was a real shock. After several tenuous diagnoses and numerous different doctor visits in December of 2012, we had finally received a definitive diagnosis. Sophia has hypereosinophilic syndrome (HES). We had joked from the day she was born that she was one in a million. How right we were.

HES is a very rare disease where the body for some reason produces white blood cells (called eosinophils), but there is no underlying cause, such as a chronic allergy (such as a gluten allergy) or parasitic infection. When they have no underlying cause, the eosinophils attack organs.

For Sophia, it seems that her brain is where they decided to hit. Less than 1% of the population will be diagnosed with this disease. Out of those, nine out of 10 are male. Out of those, there are three diagnosed cases with anyone under the age of 25. Sophia is the youngest.

The doctors haven’t found out why she also has an incredibly high platelet count, but it could be that they are not related at all. At the end of January 2013, we were started on a regimen of Prednisone therapy to drop the eosinophils so that they were no longer at incredibly high levels– at one point Sophia’s levels were at over 90,000 and high normal is 700!

The initial treatment worked very well, but her numbers dropped to ZERO. That being said, extended use of Prednisone or any other corticosteroid comes with many side effects. We saw almost immediately that she started to puff up, gaining several pounds of water weight, and she had severe and sudden mood swings. She also began to have sporadic joint pain and instead of the steroid increasing her appetite, it actually made her already very little appetite even less (how we know her weight gain was totally water weight). As we are slowly dropping the dosage levels to find the lowest dose that still has the needed and desired effect, we are seeing insomnia work its way into our lives.

Sophia is a smart, sweet, friendly and loving two year-old who loves her big sister, Kat, and her mom and dad very much. She spends her days at home with mom learning all sorts of things and enjoying her dog, Max, and her betta fish, Pi. Just looking at her, no one would know she basically has a ticking time bomb in her little tiny body. She will have to be on some form of eosinophil-lowering treatment for the rest of her life. Mom, dad and big sister, as well as grandparents, aunts, uncles and cousins do everything they can to make her world a happy one.

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