There really ought to be a Walk of Fame for people who have rare diseases. Possible categories might be: “Number of Misdiagnoses I Survived” or “Number of Doctors Who Thought It Was All In My Head.”
Sometimes it can seem as if a gazillion variables—including the color of shirt you happen to be wearing at that moment—must align perfectly for a correct diagnosis to occur. So maybe the most important category would be: “People Who Never Gave Up.” And one definite contender would be Susanna Kirby, screenwriter, piano teacher, and all-around brave human being.
According to The Daily Herald, her symptoms started with colds that relentlessly and repeatedly turned into sinus infections, bronchitis, or pneumonia.
Susanna was in her early 30s and working on her master’s degree in fiction writing. Once, she was sick for nine straight months… she could’ve given birth to a baby made out of antibiotics, considering how many she had to take!
But she never had a fever.
That’s what always stumped the umpteen doctors she went to, searching for answers.
Meanwhile, her lungs were taking a beating, and nodules developed due to her recurring bronchitis and pneumonia.
Susanna started to wonder: Am I going nuts? Is this all in my head? (Sound familiar?)
She didn’t consider herself to be mentally insane… In fact, Susanna’s mother always described her as having “spunk and [a] spirit that brightened the world around her.”
Some people would’ve given up after six physically and emotionally punishing years of uncertainty. But Susanna found two doctors—she calls them “heroes,” and I doubt you’ll disagree!—who took Susanna’s mountain of a medical history and saw a new picture. Pulmonologist Dr. Tomasz Kuzniar sent off Susanna’s test samples and results to immunologist Dr. Ewa Schafer.
It was Dr. Schafer who found the key that unlocked the puzzle of Susanna’s illness… and you’ll never guess what it was.
Give up?
Dr. Schafer tested Susanna’s blood, had her get a pneumonia vaccine, and then tested her blood again.
She found that Susanna had not developed an immune response to the vaccine. When she added that factoid to Susanna’s pattern of illness and overall medical history, she made a definitive diagnosis: Common Variable Immune Disorder (CVID).
CVID is a genetic disorder that falls under the umbrella of conditions known as Primary Immunodeficiency (PI), and it makes people highly susceptible to infections. About 25 percent of people with CVID have an autoimmune disorder, which causes the body to attack its own tissues and organs. Shockingly, more than 6 million people suffer from PI disorders, but a whopping 70 to 90 percent are undiagnosed; for those who do eventually receive a diagnosis, most searched for answers for 12 or 13 years.
These days, Susanna’s getting her life back on track. Though CVID has no cure, she regularly receives antibody treatments to address the shortage of immunoglobulins, a type of antibody, caused by CVID. Initially, Susanna took IV infusions of gamma globulin, but she’s since switched to a weekly injection that she can do, herself, at home.
Despite all the hardship, Susanna has found her place connecting connecting to a support group at www.myigsource.com, a comprehensive source of information and support for people with PI.
“I wish I had found them sooner in my journey,” Susanna said in an article in Provo, Utah’s The Daily Herald. “My heart goes out to those… [who know] something is wrong [but don’t have a diagnosis.]”
From my perspective, ALL of those people deserve stars on our Rare Disease Walk of Fame. There’s a whole constellation of exceptionally brave people out there, lighting up the darkness for those who feel hopeless and alone.
So here’s to Susanna Kirby! Keep sparkling—we love the way you shine!
