A Journey to Diagnosis

A Journey to Diagnosis

After years of being misdiagnosed, the Kauffman sisters find out they have a rare disorder

By Syerra Rodriguez

When an illness is not outwardly noticeable, it may be hard to connect to or understand what a person is going through. The age old adage, “seeing is believing,” is not always true, as many individuals are battling invisible illnesses every year. For Alexa, 26, and Mackenzie Kauffman, 20, they have learned this firsthand, as they had to undergo years of doctor appointments and procedures before properly being diagnosed with mastocytosis disorders. 

According to the National Institute of Health, mastocytosis “occurs when too many mast cells accumulate in the skin and/or internal organs such as the liver, spleen, bone marrow, and small intestine. Mast cells are a type of white blood cell in the immune system.” There are two main forms of mastocytosis, with one form affecting only the skin, and the other affecting more than one part of the body, which can include the GI tract, bone marrow and liver.  Mast cells can be found in anyone and are crucial in immune health; however, when too many are being produced, there are a plethora of complications associated.

“Mast cells are what’s supposed to help and fight [things] off, and mast cells are part of the healing process, but for us they’re overactive and they keep attacking it—keep attacking it even when there’s nothing there for it to attack,” Alexa says.

Both Alexa and her sister, Mackenzie, have been dealing with misdiagnosed health problems since they were young. For Alexa, this meant having to undergo radiation because of suspected leukemia. Mackenzie, on the other hand, was thought to have appendicitis,endometriosis, and unidentified viruses. Both have had hospital, general doctor and specialist trips… not one medical professional could figure what the condition was. 

Alexa

Still, it was not until 2015 when Alexa began to notice that she was developing hive-like spots on her skin. “I started noticing spots on my stomach and I was kind of like, ‘that’s weird,’ but I kind of chalked it up to be like freckles from being in the sun and tanning,” she says. “And then that was the summer I started having issues with food. I couldn’t keep anything down or in me.” 

Dropping to a mere 85 pounds, Alexa began to train for fitness shows as a healthy way to release her frustrations and regain the muscle she was losing. After being referred to a dermatologist, she was diagnosed with cutaneous mastocytosis, or urticaria pigmentosa, a common manifestation of mastocytosis disorders. Having now been diagnosed with a type of mastocytosis, it was hard to not think the worst. 

Though very rare, those with certain aggressive forms of mastocytosis can be given a life expectancy of two to five years from being diagnosed, and Alexa began to worry if that could possibly be her.

“So there was a very short period of time where I didn’t know if I was going to have that as one of my options, and so that’s why I competed, because I needed to take my mind off it, and sometimes because of that, I go back to that fear sometimes,” she shares.

The Kauffmans were luckily able to find specialists in immune health who referred them to the Mayo Clinic in Scottsdale, where both girls underwent a bone marrow biopsy—while awake. 

“They said, ‘We’re not going to put you under, we’re just going to give you something to relax you and numb the skin.’ You can’t numb bone though, so I felt all of it,” Alexa says. 

Mackenzie

Just like her older sister, around the same time, Mackenzie was fighting symptoms of an unknown cause. Unlike the spots, her symptoms included vomiting, high fevers, and terrible rashes. 

Their mother, Susan, reports that she has seen Mackenzie throw up continuously throughout a 12-hour period. 

Doctors removed her appendix, which had no impact, and performed a laparoscopy on her ovaries, which also came up short of answers. The easiest diagnosis was that she simply had a virus.  

At the time, Mackenzie was still a high school student living at home. Since no one could diagnose her, the frustrations between Mackenzie and her mom ran high. Mackenzie, feeling sick more days than not, would often not have the energy to do classwork or leave her bed.

“I would say to her, ‘Mackenzie, I will go to jail, honey, if you do not go to school,’ and we would just clash because I thought it was anxiety; I thought it was bullying. I didn’t know what it was,” Susan says. 

Susan, of course, knew something was wrong with her daughters, but after dealing with one misdiagnosis after another, she had begun to feel helpless. Finally, they had that appointment at Mayo.

Reactions to a Diagnosis

When the results came back, the doctors’ suspicions were confirmed. Alexa had indolent systemic mastocytosis with a mutation gene called the KIT Gene(which means the condition can mutate) and Mackenzie had mast cell activation. At least now, after countless testing, they would be able to get treated properly, right?

Instead, what they found was that many doctors did not know about mastocytosis, and their specialists seemed to be  the only ones who could truly help them. They also found that their peers were not as sympathetic to their newfound illness because on the outside, they both they still looked like the same beautiful, well put-together girls they always had. They didn’t look sick on the outside.

One of Mackenzie’s close friends even accused her of faking her illness for attention when she had to drop her in-person classes to heal from the mononucleosis and mononucleosis reactivation she later developed. As mast cell patients, Mackenzie and Alexa require exponentially longer to heal from what to others are simple illnesses. 

Despite having others question the validity of their diagnosis, one thing never changed—the sisters’  fighting spirits. Alexa is now a pro-diva bikini model, working as a fitness trainer and Mackenzie is getting straight A’s in college. Neither lets their mast cell disorder dictate the way they live their life. 

“My daughters are my heroes,” Susan says, having seen them overcome every battle in their lives. 

Every day may bring something new for these young women as their mast cell disorders progress, but as for now, they fully intend to live their lives on their own terms and spread positivity and encouragement to those who may be dealing with the same thing. 

For more information about Mastocytosis, visit www.tmsforacure.org.

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