Living with mastocytosis: understanding your diagnosis
SPONSORED CONTENT
This summer, RARE Revolution hosted the second of four RARE Rev-inars in a series sponsored by Blueprint Medicines, a Sanofi company. Shawna Hull and Kelly Morton, who are both living with cutaneous and systemic mastocytosis in the USA, joined us to discuss the vital role of community support and self-advocacy
Written by Karen Roberts, RARE Revolution
Insights from
Both support from patient communities and strategies to strengthen confidence to self-advocate can help empower those living with cutaneous and systemic mastocytosis, as Shawna Hull and Kelly Morton share.
Shawna and Kelly both have first-hand experience of living with cutaneous and systemic mastocytosis and they kicked-off our RARE Rev-inar (episode 27) by sharing their respective journeys from diagnosis to our host, RARE Revolution CEO Rebecca Stewart.
Both described the time as “overwhelming” or “confusing” highlighting frustrating at attempts to find support after diagnosis.
For Shawna, who is now a volunteer for the Mast Cell Disease Society, she remembers going into “full on panic mode.” She speaks of how at the beginning, doing research became overwhelming. This led Shawna to seek out the support of a community—others who understood her overwhelm and could give her the soft landing she needed.
Systemic mastocytosis is a rare blood disorder characterised by an excessive accumulation of mast cells. It is classified as a type of blood cancer.1 Symptoms can include extreme tiredness, nausea, abdominal pain as well as flushing of the skin.2 Mast cells are produced in the bone marrow and are an important part of the immune system and help fight infection.3 In the cutaneous form of the disorder lesions such as spots or patches form on the skin.2
Shawna was diagnosed with the cutaneous (involving the skin) form of the condition 12 years ago and systemic mastocytosis followed eight years later, in 2022. She shares how even though the condition is considered a rare blood cancer support systems are lacking.
She says, “We basically fend for ourselves, and we figured it out by joining communities via Facebook or the Mass Cell Disease Society, and that’s one of the reasons why I started joining the meetings.”
At the start Shawna would go to two meetings on average a week, and then after time she became one of the volunteer leaders.
Shawna adds:
“I think the best thing about the community is you have somebody you can relate to and talk to, and they will say, ‘Oh yeah, I had the same symptom,’ or I can totally relate’, because a lot of our symptoms and our reactions are invisible to the human eye, so I think that’s why it’s so misunderstood. The community is where we all rally together.”
Kelly’s experience is similar in many ways. She describes how when her symptoms first started, she put it all down to menopause.
She shares: “Going back five or 10 years ago I probably was having early symptoms, but I thought it was menopause because I was in that stage of life.”
After seeking medical advice, Kelly was told she had osteopenia (low bone density), and later, after developing brownish/red spots all over her body, a dermatologist told her it was just age spots.
It would take nearly five years before she received a proper diagnosis of cutaneous mastocytosis, and then systemic mastocytosis.
Kelly shares, “I grew up thinking you listen to doctors, right? You take what they say as truth, and so when I had my doctors telling me it’s menopause I didn’t think anything of it. It really wasn’t until the skin manifestation of the disease popped up that I started thinking this can’t be just age spots.”
At the insistence of a friend, Kelly went to get the spots checked again and a biopsy led to the cutaneous mastocytosis diagnosis.
Today, Kelly’s advice to others in the same situation is to carry out their own research. As well as carrying out internet searches, like Shawna, she joined a Facebook support group which she describes as “amazing”, adding it made her feel “heard and not alone.”
Kelly also looked for webinars and podcasts about the condition to help her understand her condition more fully—these were a valuable source of information.
Shawna reinforces this information gap by highlighting how knowledge of the condition is rare, saying, “not a lot of specialists in the world and the United States even know about this disease and handle this disease.“ Like Kelly, she also feels there is an issue with our pre-conditioning to blindly accepting what doctors say, particularly for those in her age group [middle age]. However, younger generations, she says, are “not putting up with that.” Adding, “They’re stepping up and they’re making people accountable.”
Learning to manage life with mastocytosis involves tracking symptoms, meticulous planning around them, taking medications (as needed) and a constant vigilance in pinpointing and avoiding triggers.
Shawna shares, “I know what my triggers are now, you learn through the years. You always have to be prepared [for a trigger]. You have your emergency protocol and your emergency binder, things like that with you at all times. At that point you feel like you’re more in control because you’ve had all those plans in place, and then you’re not so fearful.”
On how she knows when things are under control, she says her daily activities tend to be less affected. Her skin flushes less, and she is rarely affected by hives. She is then able to relax and is less focused on the possibilities of reactions.
Reflecting back a lot changed for Kelly when she was diagnosed. As well as having moved to a new city, she’d also been diagnosed with multiple conditions alongside systemic mastocytosis, and this resulted in her experiencing depression. To help during this challenging time, Kelly sought equine therapy which involved interacting with the horses as well as talking to a therapist about her emotions and feelings.
Kelly shares,
“It got me through that rough patch of just not knowing what to do with my feelings and my emotions and how to talk about it, and it gave me an unbiased person to talk through things. That really helped me along through my diagnosis.”
For Kelly, symptom management is successful when the symptom burden is less, and she wakes up “feeling good and not tired” and not having any flushing or feeling stressed or overworked.
Continuity of care is important in helping to manage the condition on a daily basis; Shawna says that this means being the one to make sure information is transferred to each provider. “All these doctors have to talk together, because if we don’t talk together, then we could take something that’s not good for us or interacts with us. Because we’re hypersensitive to a lot of medications because our mast cells overreact, that could be dangerous.”
Both Shawna and Kelly agreed there is a tendency to downplay their symptoms to fit in socially, with Kelly saying, “I gaslight myself on daily.”
Shawna adds: “Sometimes we try to explain to others what’s going on, but because it’s largely an invisible disease, it’s kind of hard for them to comprehend.” Often, she will find herself cancelling events or modifying what she is going to do, saying, “You still want to be invited—you still want to go to things—so you just kind of downplay your symptoms so you can function.”
Recognising symptoms and triggers and understanding the disease can help build confidence, especially when it comes to attending doctor’s appointments. Kelly says she will prepare a list of questions ahead of time to aid her sense of agency.
Regarding the psychological impact of normalising symptoms and building confidence in describing their condition, Shawna shares: “I think one problem is that when you live with a chronic or rare disease, your brain actively adapts to protect you from the constant trauma and stress of being sick, so we tend to convince ourselves that it’s either part of aging or that everybody has this. That’s why we would go for many years being undiagnosed.” She adds that a good support group can help when it comes to combating this and aiding the building of confidence around knowing that symptoms, triggers and nuances of the disease. They can help by empowering individuals, building a list of questions and offering guidance, so that they can step into a doctor’s room feeling informed and prepared.
“With a rare disease, we have to advocate for ourselves. That might shock the doctors. That’s fine. They’re learning, we’re learning. We’re never trying to insult them by any means. We need to be heard, and we want [and deserve] to be validated.”
Often there is a difference in the language used to describe symptoms by medical professionals and the community which both women identified. Kelly spoke about how medical staff deal in “absolutes” and although they hear about the symptoms, they don’t experience them so their ability to truly relate is lacking.
Kelly adds: “It’s hard at times to explain to a doctor in 15 minutes, but we as patients deal in unknowns daily, and we have a lot of symptoms, and not everybody is the same.” Finding the balance for common understanding can take some finessing between the patient and the doctor, she adds.
Shawna said it was important to describe every symptom and not assume that one is related to another. She said: “You lay it all out on the table. Tell them everything. They’re going to have to put the pieces of the puzzle together.”
Understanding the impact the condition can have on patients is vital. Kelly says, “I think doctors don’t understand that the littlest things can just drain our battery.”
Shawna echoed this, describing how when a flare takes place it’s not just one thing; it’s a “full body system attack”.
She adds:
“The most important thing is to believe us when we’re telling you that these symptoms are real, and my biggest thing is if you’re not familiar with our disease, that’s fine. You can admit that. We invite you to learn. We are happy to direct you to any resources that you need.”
References
[1] https://www.nccn.org/patients/guidelines/content/PDF/systemic-mastocytosis-patient-guideline.pdf
[2] https://medlineplus.gov/genetics/condition/systemic-mastocytosis/
[3] https://www.nhs.uk/conditions/mastocytosis/
To watch the full interview please visit: https://www.youtube.com/watch?v=UxTd0YtIjQk&list=PLXyvHn9VjR24
This article was created from insights from our 27th RARE Rev-inar, Mastocytosis: before, during and after diagnosis, which was supported by Blueprint Medicines.
Blueprint Medicines have had no editorial control or influence over this copy (other than for compliance review and to check factual accuracy) and opinions are those of the contributor alone.
