BOULDER, Colo. — Joan Smith spent almost 40 years believing she suffered from severe allergies. Despite her ever-worsening symptoms, medical professionals frequently dismissed her concerns until a concerning episode prompted her to seek out more answers.
“My face and neck were bright red. I had tachycardia. My heart was racing. I had GI symptoms. I had a bad stomachache,” said Smith, describing an event that occurred in her late 30s. “I did have this feeling that it was life-threatening, and that was a change. I had never had that before.”
In the span of three weeks, she had two atypical anaphylactic reactions. Her doctor couldn’t find anything physically wrong with her.
“He said that the tests were all normal and that he didn't think there was anything wrong with me, and that he would be glad to give me a referral to a psychiatrist if I wanted one,” she said. “I was horrified, and I didn't think that was correct.”
She went to an endocrinologist and then an allergist after that. They knew something was wrong with her but neither could figure out what it was. Over the next 16 years, her symptoms slowly became more severe until she decided to seek out more help at National Jewish Health.
“One thing we do particularly well at National Jewish is that we talk to each other,” said Dr. Flavia Hoyte, professor of medicine in allergy immunology at National Jewish Health. “We have conferences with each other on a regular basis where everybody chimes in with their expertise, and it's not until you hear somebody else's perspective that you think, ‘Oh, this might be this very rare condition.’”
After a day of testing, they determined that Smith suffered from systemic mastocytosis, a rare condition that causes an abnormality of the mast cells. In a healthy body, mast cells are used to fight allergies and parasites. When the body encounters an allergen, the mast cells release histamines to deal with it.
“In mastocytosis, you don't need the allergen,” said Hoyte. “Those mast cells are abnormal, and they can just release on their own. They’re a little bit more active than they should be.”
With her proper diagnosis, doctors elevated the amount of medications that Smith was using. That helped with the symptoms but started causing severe side effects. Looking for a solution, Smith decided to participate in a Stanford University clinical trial for a drug called Avapritinib, or Ayvakit.
The drug was already approved for use in more severe conditions of mastocytosis but was being studied to see if it was effective for patients like Smith who suffered from systemic mastocytosis. Half of the patients in the study received a placebo, and half received the actual drug. Smith realized quickly that she had gotten was she was hoping for: the drug itself.
“The statistics showed on this trial that people were relieved, on average, of 50% of their symptoms,” said Smith. “My symptoms are 95% gone. I happened to have a particularly excellent reaction to the medication, and I’m really thrilled about it.”
“All the symptoms that she didn't even realize were related to the mast cells were better," said Hoyte. “Getting that feedback when the medication was approved made it so much easier for me to talk to my other patients.”
After the study and the subsequent approval of Ayvakit for patients with systemic mastocytosis, Joan became a resource for Hoyte. If future patients had concerns about using the drugs, Smith was only a phone call away.
“She actually spoke with one of my other patients,” said Hoyte. “My patient was kind of on the fence. I said, 'I have another patient who can speak to you about her experience. Not to convince you to take it or anything, but just kind of speak to you about her experience.' After they spoke, the second patient came to me saying, ‘All right, I'm ready to try it,’ and it's been life-changing for her, as well.”
Smith and Hoyte both encourage people to listen to their bodies and seek out additional medical opinions if the treatment from the first opinion is not effective.
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