Tuesday, September 27, 2016

The Mastocytosis Society 2016 Conference

So this is the final post in my 5 post series on my recent trip to Orlando. I hope you enjoyed reading about my experiences at Disney! In this post, I'm going to do my best to summarize what I got out of the TMS 2016 Conference.

I say I'm going to do my best because I honestly am not even sure I know how to put some of it into words. Being in a room full of people who understand what life is like with mast cell disease whether patients, parents, siblings, friends, or doctors is such a unique experience. And the doctors...it was SO CRAZY to be in a room with doctors who not only have mast cell patients, but actually know more about it than we do as patients. That certainly doesn't happen every day! =P

The conference started Thursday evening with registration and a quick Q-and-A session about the schedule and format of the next 2 days. This was our first chance to meet some other people with mast cell disease and a couple of the doctors who came in early. The conference sessions officially started Friday morning, so after a short meet and greet, Mom and I headed back to bed since we were still wiped from our time at Disney.

Friday morning, Mom and I (and Leni) got up early to go for a run. As tough as it was to deal with Florida heat and humidity, exercise is one of the major ways that I manage some of my symptoms (POTS mostly, but others as well). Even on bad days, I force myself out there to get my blood flowing (literally, my blood vessels need some help to regulate my blood distribution properly) and wake up the rest of my body. After the run, we took quick showers and headed downstairs to the conference.

Both days of the conference had 3-4 morning sessions (aka lectures) given by the speakers, then a Q-and-A before lunch. After lunch was 2 more sessions, a Q-and-A, breakout groups, a break for dinner, then evening hang out time.

Friday morning, the first speaker was Dr. Joshua Milner from NIH. He spoke on some new research going on it his lab in regards to potential genetic links for specific forms of mast cell disease. Everything he present was new data and unpublished research, so I won't go into much detail (this session was also not live streamed for the same reason) but I will say it is really cool to know that this kind of research is being done at a facility as well known as NIH.

Day 1 and we're ready to learn!
Next up was Dr. Theoharides Theoharides, aka Dr. Theo. He is a researcher and doctor at Tufts University and has more advanced degrees than probably anyone! He actually spoke for 2 sessions Friday morning, on the classification of mast cell diseases and some of the neuropsychological impacts of mast cells in the brain. Both sessions were extremely informative, but actually raised a few questions about my specific diagnosis. Based on they way he described the differences between various forms of mast cell disease, I may actually have a slight different form than we had originally thought. More on this later.

Dr. Celalettin Ustun from the University of Minnesota (where Dr. Afrin is!) spoke about his treatment of aggressive forms of mast cell disease. Mast cell diseases are a spectrum of conditions ranging from symptom patterns that may be very life altering but will not impact life expectancy all the way to the most severe form (a type of leukemia) that often has a 1-2 year prognosis. Dr. Ustun focuses most of his research and treatment on the more severe forms of mast cell disease. This wasn't as relevant for me since I don't have an aggressive form, but was still interesting to hear about progress being made in research.

Last up before lunch was a short presentation from Blueprint Medicine and a Q-and-A session with the doctors who spoke. Blueprint Medicine is a company that has invested funding in mast cell research to find treatment options for some of the more severe forms of mast cell disease. It was really cool to see this company and a couple others there to learn from patients and doctors to better tailor treatment options as they continue to pursue this area of research.

Lunch was on our own, so nothing mast cell related, but I will say that Mom and I walked over to Disney Springs (right across the street from our hotel) for the second time in 2 days. We met a friend for lunch and made a second trip to Erin McKenna's Bakery (read more about it in my previous post here!) so I could try some more Kylene-safe baked goods!

After lunch, we split into breakout groups. They had a group for patients, caregivers, parents, and advanced disease. Obviously I was in the patients group. This was one of my favorite parts of the conference. Having the opportunity to just chat with other patients who "get it" and share our experiences and encourage each other...this is part of what I meant when I said I just don't know how to put everything into words...as Nick and I joke often, it was "all the feels." =P

Me, Leni, and Haylee, another mast cell warrior and our new friend!
The final 2 sessions of the day were a session on nutrition and mast cell disease by Bonnie Nasar, an Registered Dietitian with 2 children who have mast cell disease, and a session on anaphylaxis, when to Epi, and ER protocols. Both were informative, and it was cool to hear others experiences with ER trips, wondering when to use an EpiPen, and what counts as anaphylaxis vs. mast cell reaction (there is a difference believe it or not!). It also made me thankful for a local ER that is incredible in dealing with my reactions and anaphylaxis. I remember what it was like before we know what to do/say and the "fights" we would have with ER staff to get the treatment I needed. Having an official diagnosis has helped, but also having an ER that is so willing to learn and listen while using their expertise to treat me is a huge blessing!

Dinner was on our own, then there was a hang out time to just chat with other patients about life, mast cell disease, our interests, EpiPens, and more! I had a bunch of people ask about Leni and what she did for me, and it was great to be able to share how Leni has made such a big difference in managing my reactions. We were hoping to meet another service dog handler and dog, but sadly she ended up in the hospital with sepsis. =( Praying for a complete recovery and thinking of you!!

Leni and her squeaky frog having some much needed goof-off time!
Saturday morning began with another run and quickly packing as our flight left in the evening. The first session of the morning was the annual TMS board meeting. The board members shared what the upcoming year was looking like and where things were in terms of research. One of the big announcements was that official ICD-10 codes for mast cell activation syndrome have been approved for use!! If you don't know what that means, ICD-10 codes are what doctors use as your diagnosis when they submit things to insurance for coverage. If (when) codes for your condition don't exist, doctors have to use symptom codes which means they aren't actually billing for your specific condition and can make things challenging to get approved because it appears there isn't actually a diagnosis. Having these codes could make a huge difference in getting insurance approval for treatment! Plus it's more validation for those of us who spent years being told it's all in our heads/we're making it up.

Next up was Dr. Matthew Hamilton from Bringham and Women's in Boston. He is a gastroenterologist that specializes in managing GI symptoms in mast cell patients. He was the second doctor to raise a question as to whether my diagnosis is correct/complete. In his research and treatment experience, none of his mast cell activation syndrome patients showed elevated mast cell counts in the GI tract. Only other forms of mast cell disease showed the organ infiltration that I have on my biopsy stains. Some of my blood work does not point toward a different form of mast cell disease, but my biopsies and other blood work potentially could. Right now I seem to be falling in a weird gray area between 2 different forms of mast cell disease...stay tuned and I'll keep you posted as we investigated this further!

Leni tucked under our table on Day 2 and taking notes (or a nap...)!
The next 3 speakers were Dr. Roberta Zanotti from Verona, Italy talking about her research about bone loss in mastocytosis, Dr. Nikki Martinez talking about stress and trauma that comes from living with mast cell disease, and Dr. Gianina Hayes who spoke about how to approach doctors and appointments for optimal care. I actually missed a good bit of these because my stomach decided not to play nice and I was in the bathroom throwing up for a bit. Then I was talking with a few other patients about Leni and our diagnoses. Then I was talking with some of the TMS board members about volunteering. From the bit I did hear and what other attendees said, these sessions were just as good as the others.

There was a quick Q-and-A before lunch, then a break. I asked a question of the doctors on the panel during the session about some of the numbness patterns that I have been getting during exercise over the past few months. They weren't quite sure, so when we broke for lunch, I had the opportunity to talk with one more in depth about his thoughts on my on-going symptoms that we can't seem to explain. He offered his suggestions for additional testing (both to determine which form of mast cell disease I have as well as to investigate my neurological symptoms) and also offered his thoughts on whether I may possible have an underlying condition that may be primary to my mast cell disease (or secondary to it...which is the chicken and which is the egg is not entirely clear). Like I said before, I have some more work to do (translation: more testing to schedule) so that we can hopefully either confirm or rule out whether something else is going on.

This was one of the reasons that these conferences are so important for patients with rare diseases. While at this point, I have a good team of local doctors who are doing what they can to help me manage my symptoms, they are not mast cell specialists. They do correspond with my specialist on occasion, but the reality is that they just do not fully understand what mast cells can do in various organs. Now, even the top doctors still don't have all the answers, but they see it every day and know so much. It is truly a gift to have had these 2 days to be able to talk at length with 2 different doctors about their thoughts on my diagnosis and persistent symptoms. Often when talking with doctors, as a rare disease patient, I know more about my condition than the doctor I am seeing does. It can make determining appropriate treatment a challenge as we are not sure whether it will help or make things worse, and it's often a game of chance and holding our breath hoping it doesn't causes a major downward spiral. Being able to talk with doctors who know way more about mast cell disease than I do, was such a unique opportunity and incredible blessing!

After lunch, Dr. Mariana Castells spoke for 2 sessions, on the impact of mast cell disease in reproduction and pediatric variants of mast cell disease. It was interesting to hear what her experience had been with mast cell patients who had children and whether the children were later diagnosed and how the mother handled the pregnancy. Unfortunately, Mom and I had to leave after her first presentation because we had to get to the airport for our flight. I really didn't want to leave because it was such an incredible 2 days of being with people who "get it" and are also living this crazy mast cell life.

Fellow Zebra shout-out!
To be honest, I'm still processing some of what I learned and the whole experience. Life with a rare disease can feel isolating, and being reminded that I'm not alone in this was so special. It's one of those moments where you immediately connect with people because you automatically have something in common. We might share no similar interests or beliefs or political views or whatever, but we are connected through our unique medical journeys. Plus being reminded that there are doctors who care deeply about us as patients gives me hope that maybe someday there will be better treatment options and maybe even a cure. Seeing doctors and patients interacting because we are so deeply connected as fellow members in the mast cell community whether by choice (doctors) or by force (patients/parents/caregivers) is not an experience you get every day, especially as a rare disease patient.

I am so thankful that I was able to attend, and as I said earlier, am still sorting through some of my notes and the thoughts in my head. A conference like this is just another reminder that "alone we are rare, together we are strong." Hopefully this all makes sense, but please ask if you have any questions! My hope with this post is that it gives a glimpse of what the conference was like for friends who wanted to go but couldn't or for anyone reading who is just interested in learning more about mast cell diseases!

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