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In the summer of 2000, Shawna was a 30-year-old mom with a 3-year-old daughter and a newborn son. While pushing her kids in a stroller on the way to watch a parade, she suddenly felt faint. “One minute I’m walking down the street with my kids, and the next I'm on the ground,” Shawna remembers. At the time, she chalked up the feeling to exhaustion. Her husband was deployed with the military, and she was parenting two kids on her own.
Twenty-five years later, Shawna would look back on this incident as the first real indicator that something was wrong.
Years passed, and new and seemingly unrelated symptoms began plaguing Shawna. Some were visible, like the itchy red spots that appeared every time she took a shower. Many symptoms, however, like fatigue, bone pain, and stomach issues triggered by foods were invisible to others.
“People often assume that if you look healthy, nothing is wrong,” Shawna recalls.
These issues were significantly impacting Shawna’s life. It became challenging to go to restaurants with her family, because certain meal ingredients might lead to stomach pain or diarrhea. Every time she traveled, she would need to look up the nearest hospital and ensure there was a doctor nearby covered by her insurance, in case she had a serious allergic reaction. At one point, she couldn’t get through the day without napping and would hide her exhaustion from her family. This fatigue got in the way of her gardening and her other favorite hobbies.
Finding the cause
In 2022, after 22 years of doctor visits and uncertainty, the puzzle pieces finally began to fit together. An allergist told Shawna he suspected her various symptoms were related and that he might know what was causing them. A bone marrow biopsy confirmed the allergist’s suspicion: Shawna was living with indolent systemic mastocytosis (ISM), a rare disease caused by the abnormal buildup of mast cells, which play a vital role in the immune system’s response to allergens.
ISM can lead to potentially debilitating symptoms such as skin lesions, fatigue, diarrhea, bone pain, brain fog, and anaphylaxis. In addition, everyday triggers that can cause symptom flares — like scented products, temperature changes, and stress — are often difficult to avoid.
For Shawna, finally learning that her symptoms were related and getting a name for her disease represented a meaningful step forward. In an online support group, Shawna connected with other people living with ISM who also carried the burden of battling this often invisible disease.
“Hearing other people talk about exactly what I’d experienced for years — the fatigue, the digestive issues, the rash and the bone pain, as well as a reaction to strong smells — it was confirmation that all these effects were from the disease, and not just in my head,” she says. “Finding the ISM community and being able to open up about living with it was incredible.”
These connections encouraged Shawna to take proactive steps to educate herself and her loved ones. She researched online to find out more about ISM and started bringing family members to her doctor's appointments, not only for moral support, but also so they could help her advocate for herself.
While Shawna found comfort among others like her, she was still left with a big question: Now that her disease had a name, how could she try to manage it?
Targeting the source
At the time of Shawna's diagnosis, she received various supportive care therapies to treat individual symptoms. “I was taking a number of pills every day,” she says. “There was a different medicine for each symptom.”
Despite these treatments, Shawna’s bone pain and fatigue got worse, making it difficult for her to keep up with work and her hobbies. She decided to explore a different approach to manage her ISM. In one of her online support groups, she learned about a therapy used to treat adults with ISM and the experiences of others who received it. In March 2024, Shawna and her doctor decided she would add this medicine, AYVAKIT® (avapritinib), in addition to her other medications, to manage her ISM.
AYVAKIT is a once-daily pill to treat adults with ISM approved by the U.S. Food and Drug Administration (FDA). AYVAKIT is not recommended in people with low platelet counts (less than 50 x 109/L).
AYVAKIT targets the source of the disease — a specific gene mutation, KIT D816V. AYVAKIT may cause serious side effects such as cognitive effects, skin sensitivity to sunlight and effects on pregnancy and fertility.
FDA approval was based on six-month clinical study results that showed AYVAKIT in combination with symptom-directed therapies improved overall ISM symptoms including, brain fog, dizziness, headache, fatigue, flushing, bone pain, itching, spots on the skin, abdominal pain, diarrhea, and nausea.
Please see Important Safety Information below and click here for full Prescribing Information and Patient Information for AYVAKIT.
Since starting AYVAKIT, Shawna has seen improvements to her symptoms. She has less bone pain and fatigue, she no longer breaks out in a rash from showering and she has fewer GI issues.
Shawna initially experienced some side effects, like dizziness and swelling around the eyes. Shawna still needs to be mindful of her ISM triggers, including her sensitivity to smells, but her ISM symptoms feel more manageable.
“For me, finding a therapy that targets ISM at the source just made sense,” Shawna remembers. “I still make sure I don’t overdo it, but I have gotten back to more that I love.”
She continues to work at a local university and appreciates getting back to the things she loves like painting, gardening, and making new memories with her family.
Importance of self-advocacy
Shawna has become an outspoken advocate in the ISM community, priding herself on helping others find their voices and taking on a leadership role in her support group. Recently, a 27-year-old joined the group, nearly the same age Shawna was when she first started showing symptoms.
“At first, I thought, ‘Oh my God, this is horrible, she’s so young.’” Shawna recalls. “But then I realized she, and others like her, had an opportunity to connect with the ISM community earlier on in their journeys and that they could learn to advocate for themselves from people like me. My hope is that this gives them the opportunity to build a strong support system while navigating their ISM journey.”
Shawna is committed to empowering others, encouraging them to speak up, ask questions and work closely with their healthcare provider to find solutions that work for them. “Your voice matters and it’s always crucial to be your own advocate,” she says.
To learn more about AYVAKIT, visit AYVAKIT.com.
Indication and Important Safety Information
WHAT IS AYVAKIT® (avapritinib)?
AYVAKIT® (avapritinib) is a prescription medicine used to treat adults with indolent systemic mastocytosis (ISM). AYVAKIT is not recommended in people with low platelet counts (less than 50 X 109 /L). It is not known if AYVAKIT is safe and effective in children.
IMPORTANT SAFETY INFORMATION
AYVAKIT® (avapritinib) may cause serious side effects, including:
Cognitive effects. Cognitive side effects can happen during treatment with AYVAKIT and can be severe. Tell your healthcare provider if you develop any new or worsening cognitive symptoms including forgetfulness, confusion, getting lost, trouble thinking, drowsiness, trouble staying awake (somnolence), word finding problems, seeing objects or hearing things that are not there (hallucinations), or a change in mood or behavior.
Skin sensitivity to sunlight (photosensitivity). Your skin may be sensitive to the sun or other forms of light (photosensitivity) during treatment with AYVAKIT. Avoid or limit exposure to direct sunlight, sunlamps, and other sources of ultraviolet radiation during treatment and for 1 week after stopping treatment with AYVAKIT. Use sunscreen or wear clothes that cover your skin if you need to be out in the sun.
Before taking AYVAKIT, tell your healthcare provider about all of your medical conditions, including if you:
- history of bulging or weakening of a blood vessel wall (aneurysm) or bleeding in your brain
- have a history of stroke within the last year
- have low platelet counts
- have or have had liver problems
- are pregnant or plan to become pregnant. AYVAKIT can cause harm to your unborn baby
- Females who are able to become pregnant: Your healthcare provider should do a pregnancy test before you start AYVAKIT. You should use effective birth control (contraception) during treatment with AYVAKIT and for 6 weeks after the final dose of AYVAKIT. Talk to your healthcare provider about birth control methods that may be right for you. Tell your healthcare provider right away if you become pregnant or think you may be pregnant during treatment with AYVAKIT.
- Males with female partners who are able to become pregnant should use effective birth control (contraception) during treatment and for 6 weeks after the final dose of AYVAKIT.
- are breastfeeding or plan to breastfeed. It is not known if AYVAKIT passes into your breast milk. Do not breastfeed during treatment with AYVAKIT and for at least 2 weeks after the final dose of AYVAKIT. Talk to your healthcare provider about the best way to feed your baby during this time
Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. AYVAKIT may affect the way other medicines work, and certain other medicines may affect how AYVAKIT works. Especially tell your healthcare provider if you take estrogen-containing hormonal birth control or medicines that prevent blood clots.
Do not drive or operate hazardous machinery if you have confusion or trouble thinking during treatment with AYVAKIT.
The most common side effects of AYVAKIT in people with ISM include: swelling around your eyes, dizziness, swelling of your arms and legs, and flushing.
Your healthcare provider may change your dose, temporarily stop, or permanently stop treatment with AYVAKIT if you develop certain side effects. AYVAKIT may cause fertility problems in females and males. Talk to your healthcare provider if this is a concern for you.
These are not all of the possible side effects of AYVAKIT. Call your doctor for medical advice about side effects. You are encouraged to report side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch or call 1-800-FDA-1088.
AYVAKIT is available in a 25 mg tablet.
Please click here to see the full Prescribing Information and Patient Information for AYVAKIT.
This promotional content was developed by Blueprint Medicines Corporation, the manufacturer of AYVAKIT. Individual results may vary. Shawna is being compensated by Blueprint Medicines, a Sanofi company for sharing her story.
AYVAKIT, Blueprint Medicines and associated logos are trademarks of Blueprint Medicines Corporation.
© 2026 Blueprint Medicines Corporation.
USAVA26.0042.1| 06/2026
