SHUTTERSTOCK| Patient portrayal
Something was not right. For a long time, Barbara didn’t know why. From constantly sneezing to being flushed when playing sports, she experienced various allergic symptoms.
Growing up, she was always the one who got sick the most and stayed sick the longest. She experienced GI issues after eating certain foods. She also experienced intense bone pain, particularly in her legs. When she was outside in the heat, she would have terrible flushing. As Barbara got older, her symptoms gradually intensified and seemed to be getting worse.
“My symptoms impacted all areas of my life, from limiting what I could eat to what I could do with my family. They even affected my job and relationships,” she says. “Avoiding my triggers worked to a certain extent but it was hard to stay away from so many things. I was desperate to find answers.”
A 46-year-old mother of two, Barbara is well-versed in the medical field and knows the importance of advocating for herself as she has worked in the healthcare industry for over 20 years. Even though she was determined to find a diagnosis that could explain her symptoms, it took an unexpected, scary event forcing her to the hospital to change everything.
“I was eating chicken tenders and fries with a beer — something I’d had without issue many times before,” she says. “But I got hives and my face felt numb, hot, and my tongue was tingling. I took allergy medicine, but my symptoms were getting worse, so I decided to go to the E.R. for help.”
Recalling her frustration after being admitted to the hospital, Barbara says, “Despite my symptoms, they didn’t do anything other than watch me and give me more allergy medicine. I felt so frustrated.”
Undeterred, Barbara continued to push for an answer. She called an allergist and got blood work done with the goal of pinpointing a cause for her varied symptoms.
After ordering some tests, her results showed elevated tryptase levels. She was referred to a hematologist who ran a test which was positive for the KIT D816V gene mutation. Then, after a bone marrow biopsy conducted at a large medical center, her doctor officially diagnosed Barbara with indolent systemic mastocytosis, or ISM.
“I was relieved to find the cause of my health issues and finally felt validated,” she states. “There’s comfort in having answers so I could take steps to manage it.”
Barbara’s Journey to Understanding Indolent Systemic Mastocytosis
In partnership with her doctor, Barbara started researching ISM. ISM is a rare disease caused by the uncontrolled increase and activity of abnormal mast cells, which play an important role in immune responses. As the cells accumulate and activate in different parts of the body — such as the skin, gut, bones and other organs — various symptoms can occur.
SHUTTERSTOCK| Patient portrayal
Triggers that cause symptoms vary widely for those living with ISM — and in Barbara’s situation, they can appear at random, making them difficult to avoid.
Barbara began an elimination diet because she knew her triggers included dairy, wheat, and alcohol. She also cut back on exercise. However, that wasn’t enough and her symptoms continued.
SHUTTERSTOCK| Patient portrayal
When Barbara was diagnosed with ISM in 2013, there were limited options available to manage her ISM. However, encouraged by her doctor, Barbara joined a clinical trial investigating a new treatment in 2021.
When Barbara started the clinical trial, AYVAKIT® (avapritinib), once-daily, was added to her existing symptom-directed treatments. Although individual experiences may vary, Barbara feels more comfortable in her body and experiences fewer ISM symptoms. She noticed less bone pain, abdominal pain and face flushing.
Approved by the U.S. Food and Drug Administration (FDA) in May 2023, AYVAKIT is the first and only therapy for adults with ISM. AYVAKIT is not recommended in people with low platelet counts. The treatment targets KIT D816V, which is the underlying driver of disease in about 95% of cases, including Barbara’s. AYVAKIT has been shown to significantly reduce ISM symptoms.
AYVAKIT may cause serious side effects such as bleeding in the brain, cognitive effects, skin sensitivity to sunlight, effects on pregnancy and fertility as well as harm to the unborn baby.
Please see Important Safety Information below and click here for full Prescribing Information.
“I have less fatigue and feel more comfortable going out to eat with my husband,” she says. “I’m still careful to avoid potential triggers, but I feel like doing more things that bring me joy.”
Today, Barbara still carries epinephrine, but has never had to use it. While she used to feel anxious at times about how ISM impacts her life and sometimes cut family activities short if she didn’t feel well, she remains cautious and keeps in close touch with her doctor.
Once she began having a less intense reactions to her triggers, Barbara started to appreciate just how much she’d modified her life to accommodate her triggers.
“I had accepted these accommodations – like limiting my foods to just a few items I could tolerate – as my normal and moved on, but they weren’t normal,” she says. “I used to have headaches every day and it was easy for me to forget that not everyone has to deal with that.”
Barbara encourages people living with a rare disease to educate and advocate for themselves, sharing, “While it can be daunting to try something new after taking so long to find a diagnosis, it’s important to understand your options, including medication that may help improve symptoms. Explore what’s possible and seek healthcare professional guidance to understand your options.”
This promotional content was developed by Blueprint Medicines Corporation, the manufacturer of AYVAKIT. Individual results may vary. Barbara is being compensated by Blueprint Medicines for sharing her story. To protect the individual’s requested privacy, real names have been changed in this story but all experiences reflected are true.
AYVAKIT, Blueprint Medicines and associated logos are trademarks of Blueprint Medicines Corporation.
© 2024 Blueprint Medicines Corporation.
To learn more about AYVAKIT, visit AYVAKIT.com.
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:
Bleeding in your brain. Serious bleeding in the brain may happen during treatment with AYVAKIT and may lead to death. Stop taking AYVAKIT and tell your healthcare provider right away if you develop any symptoms such as severe headache, nausea, vomiting, vision changes, drowsiness, dizziness, confusion, or severe weakness on one or more side of your body. Bleeding in the brain has not been seen in people treated with AYVAKIT for ISM.
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:
- have a 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 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 see the full Prescribing Information and Patient Information for AYVAKIT.
USBPM24.0001.1 | 05/2024
