A Systemic Mastocytosis Journey: From Diagnosis to Advocacy

A Q&A with Steve Bashore following his experience at Together in Strength: Community Conversations on Living with Systemic Mastocytosis

Question 1: Can you share a bit about your journey with systemic mastocytosis and how it
has shaped your life over the past few years?

I started seeing red spots on my skin in late 2014. By the middle of 2015, the spots were becoming more intense and started to cluster together and began to cause uncomfortable itching. I went to my primary care doctor, and he sent me to a dermatologist. This resulted in a string of allergy testing that identified no allergies that would result in my symptoms. Eventually, a punch biopsy was performed that showed that mast cells were present in the lesions, and it was diagnosed as cutaneous mastocytosis. H1 and H2 blockers and allergy lotions and creams were recommended to alleviate the itching. Unfortunately, none of this worked and the lesions continued to multiply and the itching became unbearable. I was unable to sleep for more than a couple of hours at a time.

I was shuffled from dermatologist to other dermatologists and back to my primary care doctor over the next few years trying to find something that would provide some relief. Other medications and creams were prescribed with no results or relief. Eventually, one of the dermatologists recommended that I see a hematologist for further evaluation. After two or three visits to her, she referred me to a hematologist at Moffit Cancer Center who she
believed to have further knowledge of mastocytosis.

Blood tests were done on my first visit in March 2019 and my tryptase was at 146. Normal is less than 11. He said that the measurement may be indicative of systemic mastocytosis and ordered a bone marrow biopsy. That verified the diagnosis of ISM.

This was a huge relief. What I was going through for over five years finally had a name that wasn’t just a shot in the dark. Through that visit, I was told about a group called The Mastocytosis Society, what is now The Mast Cell Disease Society, Inc. (TMS). They were having a conference in May 2019 in California. My wife and I immediately decided to sign up and go.

It was the first time in almost six years that we could talk to other people experiencing similar journeys. I could talk to patients; my wife could talk to caregivers. It was truly eye opening.

This was the turning point in finally finding treatment that would eventually lead to almost complete resolution of the symptoms. There is no cure. Blueprint Medicine, a pharmaceutical company, had a booth there describing their medication, Avapritnib, that had been FDA approved for aggressive systemic mastocytosis and was in the process of going into clinical trials for ISM. Somehow, I knew that this was the answer.

During my next visit to Moffitt, I told my doctor about the medication and asked if it could be prescribed. Since it wasn’t approved yet for ISM, we went through a number of other approaches to managing the symptoms. We continued the H1 and H2 blockers along with other medications that did not work. I was still in misery, the only way to describe it, and unable to get a full night’s sleep.

Almost two years later, when my tryptase measured 425 (remember normal is less than 11), the doctor decided to try to get Avapritnib approved under a compassionate use exemption until it achieved FDA approval. He was successful and I started a course of treatment in December 2020 that became the answer.

This treatment changed my life. Within two months of treatment the lesions and itchiness were decreasing and my skin was becoming calm. I was able to get a full night’s sleep for the first time in years. I was overwhelmed with gratitude.

Today, I am almost spot free and doing great. I finally found a treatment to give me a better quality of life.

I want to thank my greatest caregiver, my wife, along with the doctors and medical personnel who helped me on this journey living with ISM.

It has shaped me to learn to advocate for yourself and am happy to relay my journey with the hope that other people on a similar journey can gain some knowledge to help them get to a point where ISM can be managed to provide them with a better quality of life.

Question 2: What motivated you to become a patient advocate?

Being an advocate helps me to help other patients in their ISM journey because I know firsthand how difficult it can be to get the right diagnosis and treatment. If my experience can shorten that journey for someone else, it is worth taking the time to share my story and talk it out with other patients. The first TMS conference we attended helped both me and my wife tremendously. It’s very meaningful to talk to people and share experiences.

Question 3: After participating in Together in Strength in Tampa, what moments or conversations stood out to you the most?

Together in Strength provided an opportunity to hear from Dr. Kuykendall about the latest advancements in treating ISM. It is encouraging to see that it is receiving more attention and research when just a few years ago it was barely recognized. In addition, each time we can communicate with other patients and caregivers, it encourages an exchange that provides a sense of community. I think that’s important because as one of the patients in attendance indicated, it can make you feel like you’re a little crazy. This type of forum provides a degree of validation to ease that feeling.

Question 4: What did it mean to connect with others in person within the mast cell disease community?

It means a lot, a kind of comfort, to hear from others that you are not alone in this. There is a community of patients and caregivers willing to share their experiences and expertise to shorten the path to get the correct diagnosis and treatment.

Question 5: What message or piece of encouragement would you want to share with others living with systemic mastocytosis?

Be your best advocate. Don’t downplay what you’re experiencing. Ask your healthcare provider the right questions about what treatment options are available to you in order to manage your symptoms to keep them under control and provide you with the best opportunity for a better quality of life. They need to know what you’re going through. Knowledge is powerful and there are now resources available to you to obtain information that can provide a difference. Your voice is powerful and matters in your treatment journey.