Story of struggles with rare disease

In July 2012, my sister, Alyssa, was preparing to move out of our family home and into an apartment with a friend from high school when she called down to me from her room upstairs and asked if I could bring up a box.

The request, innocuous as it was, immediately sent shivers down my spine and put the room into a spin.

“Do you realize what that sounded like?” I asked, running up the stairs and toward her. She paused for a moment, confused as to why I had charged up to her, especially without       a box.

“What what sounded like?” she asked.

“Go get a box,” I repeated back to her, emphasizing each word.

“Wow,” she said after thinking about it. “I… hadn’t even thought of it when I said it.”

We broke out in a laugh. After a moment, I looked up at her to see her eyes had welled up with tears.


Alyssa receiving a Solaris treatment, which keeps her disease from attacking her new kidney
Alyssa receiving a Soliris treatment, which keeps her disease from attacking her new kidney (Photo provided by David Deffenbaugh)

Just two summers before that, no one in our family could have imagined we would be helping her move anywhere beside to or from a hospital room. Two summers earlier, asking for a box to be brought up would have meant that either my brother, father or I would need to trudge down the basement stairs late at night to grab a 10 pound box of dialysate solution. The box, taken from a stack five up and ten across in the far room of our basement, would then be carried up two staircases to her bedroom, where she would plug it into her peritoneal dialysis machine before going to sleep. This was a nightly routine for each of us for a year and a half, sliding in between turning off the lights and brushing our teeth. It was a small task, but one that defined both how much things had changed in just a year and how far we had come in that time.

Alyssa, 22 at the time, was diagnosed with aHUS on January 20, 2009. It was one week after she had been checked into a hospital for the fist time, 11 days after she first became noticeably ill and two months before her kidneys would be classified as “permanently failed.”

Feb. 28 is international Rare Disease Day, a time each year when my family is reminded of the battle Alyssa fought. She faced the same struggles millions of others diagnosed with rare diseases do, the fight not just with sickness, but, as doctors and specialists puzzled over her case, with the unknown.

aHUS, a rare blood disorder that attacks the kidneys, is one of more than 6,000 rare diseases. It’s a diagnosis that came following consultations with dozens of doctors and different hospitals in different states. Like so many others, my sister spent months fighting a sickness without knowing what she was fighting.

Out of this battle, and the constant struggle to explain to friends and family what was happening to their daughter, my parents documented and recorded everything. For three years, my mother and father blogged daily about Alyssa’s life for a period that included rooms in four separate hospitals in two different states, daily blood draws, hourly blood pressure checks and countless nights spent trying to sleep while awkwardly scrunched into hospital bedside chairs.

The "Prayer Bears" Alyssa's team for the Kidney Walk at Seneca Park Zoo in 2011. (Photo provided by David Deffenbaugh)
The “Prayer Bears” Alyssa’s team for the Kidney Walk at Seneca Park Zoo in 2009. (Photo provided by David Deffenbaugh)

They documented it all, quoting doctors and citing blood pressure counts like sports scores. My father managed to bring levity and personality to a situation once unimaginable and my mother used it as an outlet for the hours upon hours of research she had done on the disease and its treatments. The posts remain there today, five full years from that bleak winter and three years after the transplant that has allowed Alyssa’s life to return to some  semblance of normality.

[su_pullquote]These are the moments of a family struggling with a disease that is unknowable and so feels unbeatable.[/su_pullquote]

The posts remind us of the small details lost over time. Alyssa has thankfully been able to live what could be considered a relatively regular life following her transplant. We could never forget the experience of Alyssa’s day-to-day suffering and struggle, but small details have a way of disappearing over time. When reading through these posts, it’s these moments that come rushing back: the image of my sister in the ICU of Rochester General, unconscious with a tube running down her throat following a morning of multiple seizures. My mother standing over her, rubbing lotion on her feet and legs, the only thing she could do not to feel helpless. The days we spent tracking blood pressure counts hour-by-hour with clenched fists and jittering legs. The sitting. The waiting. Alyssa flinching at the constant coughing, sneezing, groaning and other sounds of sickness that echoed through the hospital dialysis room from other patients and persistently reminded us of our young sister’s sudden grouping among the hospital’s worst. Watching from upstairs as Alyssa finally broke down into tears and asked why this was happening to her, the only time I ever saw her do so, as my father held her in his arms and told her they would get through it together.

Alyssa posing with Jenn, her cousin and kidney donor, before both went into surgery. (Photo provided by David Deffenbaugh)
Alyssa posing with Jenn, her cousin and kidney donor, before both went into surgery. (Photo provided by David Deffenbaugh)

These are the moments of a family struggling with a disease that is unknowable and so feels unbeatable.

Our family has been able to put these nightmares in our past. Alyssa found a donor, her cousin Jenn, courageous and selfless enough to offer a kidney without a moment of doubt. Alyssa, once known among the ICU staff at Rochester General as the “miracle girl” for all she had survived, found her ‘miracle drug’ to keep her new kidney from being attack by the aHUS. Phone calls home from college no longer center around where Alyssa is in her treatment, but instead on how work is going, or the new apartment, or even what’s going on with a new guy in her life, though I prefer other topics. When we think of Alyssa, we no longer picture the tubes coming out of her arms and stomach, or think to ask what her blood pressure count is. We just picture our sister, the one who loves the Red Sox almost as much as her two-year-old dog and just spent the summer learning to waterski.

This is the dream of every family fighting a rare disease. To one day step back into the world of the knowable.

We are not out of the woods just yet. Many aspects of post-transplant life, from the exhausting treatments every other Tuesday to the swelling caused by the prescribed steroids to the implications on her future life, the disease still weighs on Alyssa daily and presses her seemingly endless will-power.

Sometimes all it takes is a simple thing, like asking for a box, to take us back to the beginning and remind us. It has been worse, and it will get better.

One thought on “Story of struggles with rare disease

  1. Great piece of writing. And may your sister enjoy good health for decades to come.
    Karen Bergamo Moore
    Class of ’90
    “Gonian alum

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