Rare Diagnosis Reveals Surprising Link Between Mysterious Symptoms

(BPT) – As he approached his 40th birthday, Andrew began experiencing strange symptoms — fatigue, bone pain and frequent trips to the bathroom. Though unsettling, “I didn’t think much of them and chalked the symptoms up to things that tend to happen in middle age,” recalls the attorney and father of three. “I felt like I was constantly experiencing a low-level allergic reaction: my skin was itchy, and my eyes were watery and itchy. I felt uncomfortable in my own skin.”But when he began to develop unusual spots on his torso, his dermatologist recommended a biopsy and a few other tests. A few days later, his doctor called with a shocking diagnosis: a rare disease called indolent systemic mastocytosis, or ISM. “It was incredible to realize all these different symptoms were related,” says Andrew.ISM is 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, the disease can cause chronic, potentially debilitating symptoms such as skin lesions, diarrhea, fatigue, bone pain and life-threatening anaphylaxis. Symptoms of ISM are often unpredictable and can be caused by a wide range of triggers including foods and beverages, odors and scents, temperature changes, exercise, stress and more.In addition to the toll of his physical symptoms, the appearance of his skin spots began to have a negative impact on Andrew mentally. “It made me feel really self-conscious,” he remembers. “I didn’t like looking at them in the mirror, and I avoided taking my shirt off at the pool or beach — I lost some of my confidence.”Because his dermatologist wasn’t familiar with ISM, Andrew and his wife Shannon found a specialist in Boston. Together, they flew across the country, from their home state of Oregon, in search of help.Seeking symptom reliefWith no approved ISM treatments at the time, Andrew’s plan before he saw a specialist focused solely on reactive care. “I was treating my symptoms with eye drops when my eyes felt itchy, antihistamines when I felt reactive, and antacids when my stomach was upset. Sometimes the medications worked, sometimes they didn’t. I never knew when to expect symptoms. It felt like a game of ‘whack-a-mole’ using various medications to manage the ever-changing and unpredictable symptoms.”A terrifying experienceA few years after his consultation with an expert on ISM, Andrew was out “in the middle of nowhere” in Idaho on a rafting trip with family and friends, when he was stung by a wasp or bee. “I ended up experiencing anaphylaxis, and because I didn’t know I was allergic, I didn’t have an epinephrine injector. Everyone around me was panicking. Fortunately, my good friend who is a physician brought a medical kit, which included a vial of epinephrine. He injected me, and I believe he saved my life right there.””This was an incredibly scary episode for me, and for my family. I would say that was a wake-up call. I became much more interested in researching and exploring different treatment options for ISM that went beyond supportive care. I wanted to take a more proactive approach to my care.”Targeting the underlying causeAndrew was now seeing a hematologist who recommended a treatment that the U.S. Food and Drug Administration (FDA) approved called AYVAKIT® (avapritinib) for adults with ISM. Andrew and his hematologist discussed the potential benefits and side effects of AYVAKIT and decided together that Andrew would try it.AYVAKIT is a once daily pill that works by selectively targeting the KIT D816V mutation, the underlying cause of the disease in ~95% of patients with ISM which results in the overproduction and activation of abnormal mast cells. AYVAKIT is not recommended in people with low platelet counts (less than 50 X 109/L). AYVAKIT for ISM may cause serious side effects such as cognitive effects and skin sensitivity to sunlight (photosensitivity). AYVAKIT can have harmful effects on pregnancy and fertility as well as cause harm to the unborn baby. Talk to your healthcare provider for more information.”I was encouraged to hear there was another option for me and hopeful that AYVAKIT could improve some of my most bothersome symptoms.”Please see Important Safety Information below and click here for full Prescribing Information, including Patient Information.’Comfortable in my own skin’Andrew started taking AYVAKIT in October of 2023. “I’m glad that I took the leap and decided to try AYVAKIT after talking it over with my doctor. Now I’m more than a year into treatment, and so far, I haven’t experienced cognitive side effects, which I was concerned would impact my work.”While he still takes precautions on his family adventures rock climbing and skiing, Andrew has noticed changes in his ISM symptoms. “My skin spots are lighter and my tryptase (allergic reactive marker) levels are lower, which is reassuring to me. My spots are still there, and I occasionally feel fatigued, but overall though, I feel my symptoms are better. I feel comfortable in my own skin.””I would love to encourage other people with ISM to chart their own course and lean in to finding a solution. Everyone’s experience is going to be different, but there are solutions out there, you just have to find them. So do your own research, ask your own questions, and do what is right for you.”Please click here to see the full Prescribing Information and Patient Information for AYVAKIT.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 INFORMATIONAYVAKIT® (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 brainhave a history of stroke within the last yearhave low platelet countshave or have had liver problemsare pregnant or plan to become pregnant. AYVAKIT can cause harm to your unborn babyFemales 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 timeTell 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 25 mg tablets.This promotional content was developed by Blueprint Medicines Corporation, the manufacturer of AYVAKIT. Individual results may vary. Andrew is being compensated by Blueprint Medicines for sharing his story.AYVAKIT, Blueprint Medicines and associated logos are trademarks of Blueprint Medicines Corporation.© 2024 Blueprint Medicines Corporation.To learn more and connect with others about their experience, including AYVAKIT, visit AYVAKIT.com.