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Patient Stories: Rachel
"HES has had a big impact on my family. With my kids, it has limited how much physical
activity I can do with them."
For Rachel J., being a mother means pulling a sled for her kids in the winter, taking them to the aquarium or to the zoo, and carrying her youngest up the stairs to tuck him into bed. Since her diagnosis of Hypereosinophilic Syndrome (HES), each of those joyful moments might as well be a grueling marathon. Rachel has always been active and on the go from morning to night, raising two boys, ages 4 and 7 years, while at the same time building a career in clinical research. But HES turned all of that around in a matter of days.
It started with upper back pain that lasted for a few weeks. Then, there was the shortness of breath. Her doctors thought it might be pneumonia and prescribed antibiotics, but that didn't help. Rachel was getting sicker, and it didn't look good. She couldn't even lay flat in bed without struggling with her breath. After a trip to the emergency room and an x-ray, it became clear that whatever she had, it was wreaking havoc on her lungs and her heart.
The diagnosis of HES came within two days of her admission to the hospital. It's not easy to use the word "lucky" in this situation, but in one sense, Rachel was lucky. HES is notoriously difficult to diagnose, but she had a team of experienced and dedicated doctors collaborating on her case, including her cardiologist, who had seen this very rare condition twice before in his 16 years of practice. HES is a very rare blood disorder that affects people in many different ways. For Rachel, it was her heart and lungs that were affected most. She responded quickly to the standard treatment of steroids, but the treatment was far from perfect, and it was far from a cure.
Everyday, Rachel is reminded of the battle going on in her own body. She still can't do many of the activities she used to do. There is no more running around with the kids, and someone else has to do the shopping. As for her work ... well, that's become impossible. Muscle weakness, particularly in her legs, means that physically, she just can't do a lot of things most of us take for granted. Rachel loves to travel, but even vacations become a chore. Fatigue follows her like a shadow no matter what she does.
"It's particularly hard on the kids," Rachel says. "My little one will say, 'Mommy, are you able to pick me up today?' I don't really feel comfortable carrying him up and down stairs. I don't want my legs to feel weak underneath me while I am holding him. I have to ask [my kids] to do a lot more things for me."
Rachel, because of who she is, focuses on the positive. She is spending more time with the kids. They do crafts together. They read together. She is very much a part of her family's life. It's just that everything is just a little more low key. She takes a very active role in managing her disease. Her background as a clinical researcher has been an enormous benefit as she educates herself about the disease and works closely with her doctors to manage the symptoms.
As a clinician, Rachel knows that education and awareness play very important parts in the diagnosis of a rare disease. Even more so for HES because not only is it very rare, but it presents itself in different ways for different patients. Working proactively with a doctor who takes your symptoms seriously and conducts a thorough evaluation is critical, she says.
Today, Rachel takes prednisone (a type of steroid) to help keep the HES in check. But there are also drugs she has to take to counter the side effects of prednisone. There's a beta-blocker to keep her heart rate low and another drug to keep her stomach from developing ulcers. Prednisone can cause anxiety, too, which can be evened out with a selective serotonin reuptake inhibitor (SSRI) drug. No one wants to heap on medications to counter side effects, but that's just the reality of the situation with steroid treatments. Rachel holds out hope for something better.
Although she reports that she is stable on prednisone, Rachel hopes that one day there will be a treatment that will be able to keep the level of her eosinophils as low as possible, eliminate some of her fatigue, and have fewer side effects. But for now, the best medicine is her family, her husband, and her kids.