By Sara Muleski, Updated Jan 1
I am living with two very rare blood cancers
Back in 2015, the beginning of the year I think it was, I was 25, I was feeling fine and then all of a sudden I started to get a really bad and a really sharp pain that hurt to the point I was crying out in pain which I hardly ever do because I have a very high pain threshold. The pain was on the left side of my abdomen. I was losing weight without trying. I could barely eat much of anything without either being full, becoming nauseous or my stomach starting to hurt. I was missing work a lot because of it but since I worked at a sheltered workshop for adults with disabilities, they were understanding. They were even concerned. My mom kept taking me to doctor after doctor, test after test and still couldn’t figure out what was going on with me. And then I started getting really bad hives rash so I went to the dermatologist and he was like “these aren’t normal hives. These are mastocytosis hives” and so he referred me to oncologist where at first the oncologist wasn’t sure that I needed a bone marrow biopsy but after getting an ultrasound of my abdomen and seeing how much my spleen had enlarged and saw the hives were indeed mastocytosis hives he ordered one. I had it done in December of 2015 so I’m now 26 when having it done because my birthday is in October. I will not forget the day I found out what the fuck was wrong with me. My mom, my cousin who is a nurse and I were sitting in the exam room waiting for my new oncologist to come in with the results. He comes in all cheery and excited. In that same way he says “you don’t have one but two cancers!” My mom and my cousin both broke down crying. I just sat there speechless. But we figured out the reason why he was like that. My oncologist has never had a patient with my types of cancers before because both of them are very rare blood cancers. Myeloid/lympoid neoplasm assoc w/ eosinophilia/abn pdgfra/pdgfrb/fgfr1 and systemic mastocytosis with associated clonal hematological non-mast cell lineage disease. I was put on a chemo pill called gleevec which helped up until 2017 when it gave me the unknown side effect of liver failure and I almost died. Then I was put on rydapt which gave me the side effect of heart failure and I just got really sick with it. I’m now on avapritinib which is working very well. Sadly since my cancers are very rare, they don’t know much about them but they do know that they can not go into remission nor are they curable. At my last appointment, I was told that I look as healthy as I’ve been since I was first diagnosed and started treatment. But being 34, and not only having two very rare blood cancers but I also have a very rare lung disease and other health conditions so I am not able to work anymore. But I’m doing well as far as I can be.
Edit: I want to update you on how I am doing lately. I last saw my oncologist back in June and he was happy with how good I was doing. He said that I haven’t looked that healthy since I was first diagnosed with my two very rare blood cancers. He also said that he was not able to feel my spleen for the first time which is really good. He loves to joke around too, because he was telling my mom and I “so I see you have met my friend Dr. Sinclair over in palliative care. I was reading over some of your medical history from him” when in fact, my oncologist is the one who referred me to my palliative care team. He also mentioned that because I am looking so healthy now, he could now tell how much my mom and I are actually related, but my mom had to remind him that I am adopted, but don’t get me wrong, we took it as a compliment. My oncologist looked shocked and said “I didn’t know you were adopted!” My mom and I said to each other on the way back to her car “well, if you had looked even more at my medical history, you would see that it states I am” while my mom added “I actually told them that when they were asking me about your family medical history when you were in the hospital back in 2017, they wanted to know what all ran in the family and I had to say that we didn’t know because we adopted you”. I do know that now, I have a bit more information on my medical history that runs in my family because I am in contact with at least my birth grandma and she has told me what health conditions runs in our family. But she did not say cancer was one nor was the lung disease I have, which made me a bit confused.
Edit2: I don’t remember when I updated you all last, but I wanted to update you again. Since my last update, I had started to not feel well. I had expressed it to my mom who said that she would call my primary care to schedule an appointment, but she kept forgetting to do that. I continued to not feel well throughout July, August, and September and my mom still kept forgetting to schedule an appointment until I sent her a text one morning in late September. After I sent her the text, she messaged three of my doctors with the subject titled ‘Discouraged’ and let them know this -> “She sent me this text this morning. It’s the most coherent expression of how she’s feeling she’s ever sent me. I don’t know what can be done to help her, but I hope we can figure something out. I also sent the text to Dr. Yacoub and her psychiatrist, Dr. Hansen .
It’s hard not to. Especially lately with how i have been feeling. It’s been a hard year already. I’m tired of feeling this way, tired of not feeling good and not being taken seriously just because I am a medical mystery. I want to feel better. I want to be able to interact with my cat. I want to be able to do something instead of being tired all the time and hurting all the time.” that was to my palliative care doctor who scheduled an appointment quickly to figure out what is wrong and try to rule out anything medical. When my mom called to schedule an appointment with my primary finally, my primary was totally booked until February of next year. My mom and I decided to switch me to a primary who is also in the same health system as most of my other doctors. I had my first appointment with her this past Wednesday. She also ordered some blood tests along with the blood tests my palliative care ordered. My iron levels are on the lower side, but not to the point I need to take an iron supplement. Instead, I am recommended to increase my intake of iron containing foods. My palliative care doctor said that, at the time he wrote me, one lab was not back yet, otherwise there was nothing in the labs to explain or give them clear clues on why I may be experiencing more fatigue. My other labs look to be in normal ranges or are isolated and a bit outside the normal range so not concerning. But he was going to check with my other doctors on one of them, which was the CK lab. He said that it being elevated alone does not mean much and the issues that are related to an elevated CK are usually when it is much much higher like 5,000 to 15,000. He said that he was not very concerned about that at all, but it may be a small clue around some mild muscle injury that is occurring. He added unless I did some rigorous exercise in the 24 hours before I did the labs which could also explain it. He apologized for not getting clear answers here, but said that he is glad we are working to rule out any medical causes for my fatigue. He said that he was talking with my other medical teams too. I asked my cousin to take a look at the labs, too. She mentioned that because of the high CK, it could be why I am in pain more. I hope I get answers soon.
Edit3:I had an appointment with my oncology team on Monday, and it seemed at first that mainly Dr Yacoub and Ola weren’t listening to me. The pharmacist seemed more concerned about the side effect of memory issues happening with me even on the lower dose I am on when taking my chemo pill than Dr Yacoub and Ola. They were trying to talk me into staying on it just because it’s helping keep my cancers in check even though my mom and I mentioned, especially me, mentioned several times that I’m sick of not feeling well and just laying in bed 27/7, not able to go out and do things I enjoy. After I started breaking down into tears, my mom put her foot down and said “I think she should take a break at least for her mental state” so then I was finally heard and told I could take a break. it’s like what my mom and I were trying to tell them from the beginning when the nurse practitioner walked in and asked questions, we told her that it just seems like no one is listening to me about how I am feeling in general mentally and physically. just because the chemo is working really well to keep my cancers at bay, yeah okay that’s great, but what about the rest of my health status and wellbeing? doesn’t that matter besides just the fucking cancers? besides, why doesn’t it not surprise you two that just because I’m on a low dose of it, that I’m getting the bad part of the side effect of memory problems? the pharmacist seems more concerned about that than you guys, she doesn’t believe that it’s any of my other meds. why does it not surprise you that it’s happening to me when something similar put me on my death bed in 2017 with an UNKNOWN side effect of my first chemo pill that you brushed off? after I broke down, I think is when she finally caved in and saw, “okay, let’s listen to her” and when my mom stepped in and put her foot down as well. especially after I had sent my mom a text that seemed like I was discouraged because of how I’ve been feeling unwell for a while. only two of the three doctors she sent messages to about the text seemed more concerned. A lot of these things were said after my appointment when I was updating friends and family. I also saw my psychiatrist who is increasing my focalin to see if that helps me with my energy.
Edit4: I wanted to update you again on how I am doing. My appointment for my neurocognitive evaluation is Wednesday morning, November 27th at 9am.
I had an appointment with my primary last Wednesday, November 13th. I was supposed to draw a picture of a clock and according to my mom, I had a hard time even remembering what one looked like and then got a little frustrated because I didn’t draw the 6 where it’s supposed to be correctly. Then I didn’t draw the time I was supposed to correctly either. My mom and I are both a bit concerned about that. So, my primary told my mom that she will look into it about my cancers maybe having an effect on my memory and she said I can come in 4-6 weeks for a cognitive test. “Good morning Sara,
Yes, your mother had asked Dr. C to call her yesterday after your appointment to discuss some concerns that she said both you and her had about the cognitive screen; drawing a clock. She had also mentioned that you both recently discussed some memory concerns at your recent heme/onc appointment. Dr. C has reached out to our neurology clinic and they have responded. They agree and stated that they are going to reach out to schedule a full neurocognitive evaluation. If there is a delay in scheduling beyond a month or two, Dr. C would be more than happy to bring you back in to see her to do some basic screening. Keep us updated on this and let us know if you have any other questions.
” from my primary nurse.
Edit5: I wanted to update you again after I had my appointment this past Wednesday morning for a neurocognitive evaluation like I had mentioned last time. My mom can probably explain more about what we were told, but I will share what I can.
So, basically, I had the test done and they said that my memory seems to be perfectly fine. I just seem to have a harder time processing things or a longer time to process things because that’s just how my brain wants to work. I also have a slower time forming words or something like that. They mentioned that many things could be contributing to it including my epilepsy, my meds for not only my epilepsy, but my chemo pill. Also over-the-counter antihistamines like benadryl could be contributing to it. They said that they are glad we have this done because now we have it down to monitor and they would like to have me have a new one done in 6-12 months to see if anything has changed, gotten worse, or stayed the same.
Edit6: So, I will be updating with three different information from my last 3 appointments I had before Christmas. So, the first one will be from my psychiatrist.
-Anxiety d/t gmc (seizures, myeloid neoplasm, mastocytosis) – (chronic, stable)
-MDD, recurrent, moderate (chronic, worsened)
-ASD (chronic, stable)
-ADHD, combined type (chronic, stable)
-Trichotillomania (chronic)
-Chronic fatigue and history of Vit D deficiency
-Mild neurocognitive impairment
Medical diagnosis:
-ILD, pulmonary alveolar microlithiasis, generalized epilepsy, heart disease, psychogenic nonepileptic seizure, microcephaly, myeloid neoplasm
Sara has continued to struggle with ongoing fatigue that was minimally improved with increase in Focalin. She also continues to experience increase in depressive symptoms. She has been on a similar regimen of psychotropics for multiple years. We discussed increasing mirtazapine vs trialing a different antidepressant from lexapro and patient and guardian are agreeable to trialing another antidepressant. We discussed slowly transitioning her off of lexapro and onto venlafaxine. She is going to update me via MyChart in 2-3 weeks and we can further cross titrate as tolerated. I reviewed symptoms of serotonin syndrome and let her know if she were to experience any of those things to contact me right away. In addition she has not had a Vit D level drawn in the past 7 years and given her history of long term keppra use she is predisposed to multiple vitamin deficiencies. Vit D, folate and B6 were all ordered for when she has her next lab draw. If supplementation needs to be added, I will be discussing with other providers regarding contraindications, prior to starting.
Plan:
-Provided supportive therapy and psychoeducation.
-Continue mirtazapine to 30mg qhs for mood/sleep with plans to continue to taper as tolerated
●The next is from my hematologist/oncologist.
Ms Muleski is here today for follow up for Myeloid neoplasm assoc w/eosinophilia/abn PDGFRA/PDGFRB/FGFR1.
She was on therapy with Avapritinib.she had an excellent response to therapy. She discontinued therapy in October based on her choice. Unfortunately she had rapid relapse of her symptoms with massive splenomegaly, weight loss, as well as worsening constitutional symptoms. She feels much worse while off of therapy.
The patient would like to restart therapy today. Will issue a new prescription for 50 mg daily of her Avapritinib and renewed the patient’s consent today.
The patient has multiple medical comorbidities with multiple manifestations. It is unlikely that she has full resolution of all her constitutional symptoms despite successful management of her mild neoplasm given the complexity of her health and the multiple active medical comorbidities that she is manifesting. I had a long discussion with the patient and her mother regarding therapy expectations and
definition of successful therapy. S
2. Continue to follow up with Palliative care for supportive care measures.
3. Continue to follow up with Neurology for history of seizures and headache. Continue to follow up with PCP for health care maintenance and age appropriate screenings.
Patient to call for any further questions or new symptoms. She verbalized understanding and agreed with the plan.
●The last is from my palliative care doctor.
Reason for Visit: Fatigue, Insomnia, Depression, Anorexia, and Nausea
Ellyn Gunya (PC RN) attends this visit with me. Liz MOM is with the patient at home on telehealth.
Learners present: None
Since last visit – saw neuropsychology for cognitive eval 11/27. Indicated mild cognitive impairment with generalized deficits. Possible sleep study recommended.
Saw Dr. Hanson Psychiatry – Started venlafaxine XR (EFFEXOR XR) 75mg daily and taper escitalopram (LEXAPRO). Ordered labs.
Saw Dr. Yacoub yesterday and restarted avapritinib (AYVAKIT), since many symptoms got worse since stopping it at the end of October.
Sara continues to be experiencing increased fatigue and loss of appetite. She reports feeling more tired after discontinuing chemotherapy, sleeping excessively, and experiencing dizziness. Sara also notes a lack of appetite, which she did not initially associate with her spleen enlargement. She has recently decided to restart avapritinib (AYVAKIT) as Dr. Yacoub noted that she felt worse without it. Sara has also been taking an increased dose Focalin, which initially helped with her fatigue but seems less effective recently. She has also started venlafaxine XR (EFFEXOR XR) and is tapering her escitalopram (LEXAPRO), which she and Liz suspect might be contributing to her increased nausea and fatigue more recently.
Sara has been volunteering at Wayside Waifs, which she finds overwhelming at times, leading to early departures from her shifts due to dizziness. She has been trying to manage this by shortening her visits and planning to volunteer alongside her mother for additional support.
Sara restarted her chemotherapy regimen the night before the consultation and reported no immediate adverse effects. She has been off chemotherapy for approximately six to seven weeks prior to restarting. Sara and her mother are processing the information that her fatigue and other symptoms might be a permanent condition due to her health status and medication regimen. She is beginning to focus on how to live her best life within these constraints.
●So, when my blood tests came in, and with the help of my cousin explaining why one of them could be high, it makes a bit of sense for me to start back on my chemo pill again like my cousin said. I had several tests that were high. And a few that were low. My Vit D was really low, but I haven’t heard anything from my psychiatrist who was the one who ordered the test. I’ve been feeling unwell for a while, but after I started my new medication, I thought some of the symptoms were side effects. I’ve been communicating with my psychiatrist who said that the nausea should have gotten better now. She said that hopefully being back on my chemo pill will help with the nausea and my spleen. I’ve also been having very bad hot flashes every day and it’s a mixture of different side effects of my new medication. I asked my psychiatrist about it, but I haven’t gotten an answer. My tryptase went up from 26 to 88 in just a short time of being off my chemo pill. I stopped it on October 28th 2024 and I was at 26 for the tryptase then. I had it tested again on December 23rd 2024 and it was 88. They still are trying to figure out what is going on with me.
Story from Quora.com
Sara Muleski
I’m NOT a medical personnel, I have very rare illnesses
Instead of requesting my answer to questions I would not likely know, please think about it and also check out what I have already answered before requesting my answer. Also check out the type of cancer I have before requesting my answer to a cancer question that I may not know.
