Enter CeCe Collins, one of the strongest and most intelligent people I know. CeCe lives with multiple chronic illnesses including Ehlers-Danlos Syndrome, Sjogrens, and Dysautonomia. She does a lot of her own research to manage her illnesses. I met CeCe in a Spanish class in my first semester at Hendrix College and my first impression of her was thinking, “Why is she in this Spanish class? She definitely doesn’t need it,” while the rest of us struggled and I still firmly believe our professor hated me. I DIGRESS.
CeCe helped me through the mental struggles of diagnosing my own mystery illness when I lost the feeling in my arm. I knew she too had arm numbness and knowing she was a chronic illness superhero, I reached out to her only to have her give me all the weapons I needed for navigating through the medical field in my journey. I could write about CeCe forever, but read on to hear what she has to say about what she’s gone through and currently lives with on a day-to-day basis:
(This is a LONG, but VERY GOOD read that I’m breaking up into parts)
Q: CeCe, you have so many illnesses. What chronic illnesses and issues do you live with daily and can you define each of them?
You are right! I do have multiple chronic illnesses. This makes things confusing. Most people with one chronic illness or autoimmune disease really have other diagnoses that come along the way. I like to joke that my screwed up immune system is on a life mission to collect diseases and health problems like one might collect stamps. It comes with the territory of chronic illness, though. So you can think of it as I mainly have one genetic condition and one autoimmune disease (actually maybe 2 but we aren’t sure yet) and the other aspect of my confusingly complex health situation is that I have (and will continue to develop) other health complications, usually called comorbidities, that arise due to my chronic illnesses. My diagnoses are as follows:
- I have Ehlers-Danlos Syndrome, Hypermobile Type – this is a genetic connective tissue disease that affects how my body’s connective tissues function. Collagen and connective tissues make up the glue that holds everything together in your body. Mine isn’t normal and doesn’t really work well enough to hold things together. This means I dislocate my joints a lot, injure myself a lot, and generally have more fragile tissue all over. Essentially, my body is more prone to damage and stress, and this includes my nerves. In a normal person, things like ligaments and muscles keep your joints from going out of place and overstretching. Mine are so stressed all the time from everything moving around so much that I am constantly in pain and my body doesn’t ever get a chance to really heal from an injury properly. This is why I am sometimes in a neck brace. All of my joints hyperextend, which is to say they move beyond a normal range of motion. When I turn my head to the side or back and forward it moves beyond 90 degrees. This has caused a huge amount of instability in my neck! EDS mostly results in a lot of chronic pain for me, but there are other implications as well. Learn more about EDS here.
- I have Sjogren’s (SHOW-grins) Syndrome which is a collagen vascular autoimmune disease, like Lupus. Sjogren’s primarily affects the epithelial cells of the body and is basically a form of chronic low grade B-Cell inflammation in the body. It can affect any organ in the body and has a varied presentation from person to person. For me, it is primarily neurological and has severely affected my peripheral and autonomic nervous system (PNS & ANS) causing autonomic neuropathy (nerve damage). This nerve damage affects my ANS ability to regulate my “automatic” body functions, like controlling my heart rate, blood pressure, blood sugar, breathing, digestion, pupil function, blood circulation, and even kidney function. Sjogren’s Syndrome has no cure and very little FDA approved treatments right now because of it is such a varied disease. Some people primarily have neurological manifestations, some have kidney disease, some have liver disease, some have only the glandular symptoms of dry eyes and dry mouth with joint pain and fatigue, some have interstitial lung disease, others have heart and vascular damage…you get the picture! And, many patients don’t just have only one of those problems. It is usually a mix of any of those manifestations and things develop over time as you are living with the disease. That is why it is really important to aggressively treat Sjogren’s with immunotherapy ASAP, especially if you are showing signs of extraglandular disease. Sjogren’s patients are also at a higher risk to develop Non-Hodgkins Lymphoma or other kinds of B-Cell lymphomas in their lifetimes. For more info on Sjogren’s, honestly Wikipedia covers it the most thoroughly.
- I also have a form of Dysautonomia (dys-auto-know-me-uh) called POTS or Postural Orthostatic Tachycardia Syndrome. Dysautonomia is a fancy way of saying my autonomic nervous system (ANS) doesn’t work right. The ANS controls all of the “automatic” things in your body like heart rate regulation, blood pressure, blood and oxygen circulation, kidney function, digestion, temperature regulation, pupil function…and more. If you were going to look at or share anything about POTS to learn more, look no further than this incredible video that was made to try and explain POTS:[vimeo 187404694 w=640 h=360]What is POTS? from Dysautonomia International on Vimeo.
Though I am listing it as my third condition, POTS was actually the first one I was diagnosed with at Mayo in 2014. POTS can be caused by MANY things. It isn’t a disease in and of itself really, it is a syndrome, meaning a constellation of symptoms from the ANS not working like it is supposed to. The theory with my POTS is that it is caused mostly by my Sjogren’s/autoimmune stuff because the Sjogren’s damaged my nerves leaving me with autonomic neuropathy. Interestingly, EDS also often makes one predisposed to Dysautonomia and the theory behind that is that the nerves are just more fragile in EDS patients and therefore more prone to damage from other causes. So I like to think of it as EDS made it easier for Sjogren’s to destroy my nerves, but I am sort of just speculating because I have an obsession with needing to know WHY things happen, so that is the one I have stuck with! Either way, both Sjogren’s and EDS can cause autonomic dysfunction. The idea with using immunotherapy is that because Sjogren’s is immune mediated, if we can get it under control, my POTS symptoms should improve, my nerve damage will hopefully not continue progressing, and it is even sometimes possible to reverse some nerve damage. This is all best case scenario and I currently haven’t even received my first round of immunotherapy because I am appealing my insurance company as they don’t want to cover it.
For now, my only POTS management is based on treating my symptoms when they are present. I use compression stockings, try to stay as hydrated as possible, avoid certain things, rest a lot, try not to over do it. I use a drug called Mestinon, which is an acetylcholinesterase inhibitor meaning it prevents the breakdown of acetylcholine, prolonging it in your system to help with muscle weakness. When I have low blood pressure I take a drug called Midodrine that raises my BP.
I also have to try and drink 2-3L of fluid with electrolytes and added sodium because POTS has made me hypovolemic. I need the extra fluid to expand my blood volume to help with circulation. This has been a struggle because of my severe GI issues that have developed due to nerve damage. It is getting harder and harder for me to drink large amounts of liquid or eat enough to get enough nutrients and stay adequately hydrated. I have to get IV fluids more frequently. I am only getting about 800-1000 calories most days which makes me sound like I have an eating disorder but I don’t. I have GI dysmotility, meaning my digestion isn’t normal. My stomach doesn’t move food through it correctly. We suspect it is Gastroparesis developing which is caused by the autonomic neuropathy. Gastroparesis means “paralyzed stomach” and your food sits in the stomach too long or another part of the GI tract. This makes me constantly nauseous and sometimes I throw up undigested food. I get full extremely quickly. So this is why I don’t eat enough. A decent amount of people with severe GI symptoms from Dysautonomia have to get a permanent feeding tube to bypass their stomach and small intestine. That used to be my greatest fear but now I wonder if it would actually help me with my debilitating fatigue. I also have malabsorption meaning that the little amount I do eat and keep down doesn’t absorb through my GI tissue like it should, leaving me with multiple vitamin and mineral nutrition deficiencies. This is why IV hydration works so much better for me. Oral fluid has to travel all the way through your GI tract to get absorbed and mine doesn’t work right so my body just doesn’t hold on to oral fluid like it should, leaving me chronically dehydrated.
- Mast Cell Activation Disorder (MCAD or MCAS if “syndrome” is used instead of “disorder” both mean the same thing). Technically, I kind of had a weird allergic response to a few things at the beginning of when all this crazy stuff started, but it was a lot more mild and was limited to reactions from the sun, too much heat exposure, and wine or anything else with sulfites in it. So, around a year ago it all of a sudden was affecting me when I wasn’t in the sun, wasn’t eating anything with sulfites, etc. It was hard to pinpoint my triggers. I would just suddenly flush very badly, get extremely hot, feel weird like kind of drunk, my mouth would feel “hairy” because it was itching like hair was in the back of my throat, I would sometimes be confused, get a headache, get extremely drowsy. I have yet to develop full blown anaphylaxis but at times my reactions have been severe enough where I get the sense of impending doom, have trouble swallowing with itchy throat, feel really hot, my pulse goes through the roof, I get nauseous and feel like I might faint. Luckily these reactions have so far controlled by me quickly chewing a few chewable Benadryl. So, at Mayo Clinic in February, my neurologist who really specializes in all of this, confirmed that I have developed MCAD which is where the mast cells in the immune system are normal in numbers, but abnormal in their behavior. They are the cells that react to things like allergies and they are inflammatory. Mine just misbehave a lot and freak out over random things. The mast cells in MCAD release a bunch of excess chemical mediators causing these reactions. Luckily, I don’t have a super severe case. I have chronic hives a lot and get random severe hives from different triggers, like if I am too hot, in the sun, and sometimes from friction on my skin like my bedsheets. I had to try 4 different kinds of sheets before I wasn’t having a mast cell attack in the middle of the night. I have to watch what I eat. I typically avoid foods high in histamine. Perfumes and strong odors are also a trigger. One time I was stuck on a plane behind an older lady who was wearing the STRONGEST freaking perfume and my eyes were swollen shut by the time we landed. I was miserable. Recently, I receieved my first injection of Xolair which is an IgE binding immunomodulator that has shown improvements for people with chronic autoimmune hives and mast cell symptoms. I will continue getting these shots monthly. I have high hopes that it will help. I plan on testing it out with a glass of wine around six months! It takes a few injections to show significant results. I also LIVE on antihistamines taking 2 zyrtec daily plus a nasal steroid and sometimes Benadryl if I react badly or I know I am doing something that might make me have a reaction. I also take 300-500mg of Zantac daily, which is a Histamine 2 blocker.
- It was recently discovered that I have an antibody called Lupus Anticoagulant (LAC) which is another immune mediated thing. It is weirdly named because the word anticoagulant makes it sound like people with LAC have a bleeding disorder and bleed too much, like if they were on blood thinners. This is NOT the case it is actually quite the opposite. It also makes it seem like it is directly correlated to Lupus or a type of Lupus, but there really is no direct correlation. The LAC antibody is where the immune system creating a mechanism in the form of an antibody to a specific protein in the blood that HELPS keep blood from clotting. Thus, because I have the LAC antibody present, that protein isn’t as effective at preventing my blood from clotting. This means I have a higher risk of developing blood clots. When I found out I had the LAC antibody I was kind of petrified, I am not going to lie. I have always had a massive fear of developing a blood clot or god forbid a pulmonary embolism. Like it is my WORST fear in terms of possible consequences to my chronic illnesses. I had to immediately quit taking the pill because that would mean I had double risk factors for blood clots which would be horrible. I got the Skyla IUD instead. My Mayo neurologist described this as another indicator that I just have a serious autoimmune disease that is possibly going to cause other immune mediated things to pop up. About 50% of patients with LAC have Lupus or go on to develop Lupus. But I don’t currently meet the criteria for Lupus. This antibody could also potentially go away with the IVIG immunotherapy that I am hoping to start in the next few months.
- As if my health journey and diagnoses weren’t complicated enough, there is one more detail that is too important to spare. The day after I was diagnosed with POTS at Mayo Clinic in 2014, it was discovered that I had a tumor – specifically, a Schwannoma Nerve Sheath Tumor that was found growing between my lung and spine on my right side thoracic spine, originating from the T1-T2 nerve root. It had been growing a long time. So, I got a big fat tumor for Christmas that year. I was diagnosed the day before Christmas Eve. Great timing. My doctors at Mayo actually reviewed any previous imaging I had brought with me, to see if they could find it on miscellaneous neck and chest scans. Sadly, they did see that it had been there, albeit much smaller, as many as 5 years before. I’m over the fact that a lot of doctors totally overlooked that tumor, but I won’t deny that this was disappointing. I am just very lucky and grateful that I wound up at Mayo in 2014. Had I not gone to Mayo I am not sure the tumor would have been discovered and it would have caused irreprebable damage. The Schwannoma tumor was a big interruption in uncovering the rest of my medical issues because it was pertinent to remove it ASAP. Post-op I had to wait to heal from surgery itself before going on to try and figure out what was causing my POTS. There was also a need to wait-and- see because there was a SLIM possibility that removing the tumor could have a
positive effect and help the POTS. Spoiler Alert: the Schwannoma had nothing to do with the rest of my issues and did not cause my autonomic nervous system dysfunction. It was what the doctors called a “red herring” and basically boiled down to me being seriously unlucky and having the perfect storm of medical maladies hit me at one time. That was a Christmas I will never forget…!I had a badass female surgical team – like, ALL women. Total girl power in that operating room, ninja slicing the tumor layer by layer to preserve my nerve root function as best as possible. This tumor, who I lovingly named Thelma at the time of discovery, was quite RARE for someone my age and rarer still for the location in which it decided to grow. I was told at the time that only 12 other literature cases had the same tumor in that location as mine. It also eroded some of my ribcage and was growing into the top of my right lung, which explained the current lung infections I was getting that would knock my pulse ox down and require several breathing treatment rounds.
Anyways, what is really weird is that we actually met my would-be cardiothoracic surgeon on Day 1 at Mayo because she was actually our only contact there when we arrived, pre tumor diagnosis. She’s an incredibly gifted surgeon, Dr. Blackmon, and she had just moved to Mayo Clinic from Texas that same year. Dr. Blackmon was a close friend of my mom’s friend and before we even arrived at Mayo she was told we were coming. Upon arrival, we met her for a brief introduction where she assured us she would be our guide and friendly face while we were staying there.
At that first meeting, I jokingly suggested that maybe she would be the one to do some more lymph node biopsies on me because some of my lymph nodes in my chest and collarbone were found to be enlarged and there was talk of more biopsies. She laughed and said that she was the type of cardiothoracic surgeon that didn’t really do simple stuff like that. Instead she explained how she did very complex robotic chest tumor or lung tumor surgeries where she would squeeze huge tumors out a tiny hole through a plastic baggy. This whole first interaction gave us quite a laugh when not even a week later she was calling us to confirm that she would be operating on me ASAP to remove the mass attached to my right lung. We did pre-op for my surgery, scheduled December 26, 2014, at my surgeon’s house on Christmas Day. I have to admit, I had never eaten a meal while holding a 3D model print out of my tumor squishing through the 3D printed model of lungs, spine, and ribcage. The next day Dr. Blackmon and the neurosurgeon who was also a lady, along with the all female surgical team to assist sliced in my right side, through my tattoo actually, deflated my lung, and began a 6 hour process to carefully peel each layer of the Schwannoma away from my very important first thoracic nerve root, as they needed to take caution to not sever or permanently stretch or damage the nerve root so as to not permanently paralyze the right side of
my face and half of my right arm. Well Thelma…BYE BITCH! Not nice knowing you!
Luckily the surgery did not result in any severe complications and my recovery did not result in major permanent damage. I remained in ICU for 5 days recovering post VATS operation to remove the Schwannoma. I had to have a chest tube jammed up my rib cage for 4 out of 5 of those days and experienced the worst pain I have ever had, with said chest tube. I did get my own personal fentanyl drip and button but the slightest wrong move resulted in sharp, shredding pain like someone was prying my scapula off of my shoulder blade with a tire iron while simultaneously puncturing my lung. So that was super fun!! The good news was when I hit day 5, the chest tube removal was a piece of cake and immediately resolved the feeling that a bunch of venomous snakes had taken up residency behind my boob, under my clavicle, and all up in my armpit and shoulder area, because the tube was coiled up in all of those places for 4 days and I was more than happy to say bye-bye to Mr. Chest Tube.
Back to the importance of my Schwannoma tumor. There is a chance that I could get more, or it could grow back. I could have an unknown gene mutation that affects how my nerves regenerate that causes me to have a greater propensity to have neurogenic or nerve sheath tumors. We don’t know. We think it was just a weird fluke and that is all. So far, no more tumors although I don’t necessarily get scanned all the time to check. There is a possibility that it could also have a genetic implication or relation to my EDS gene mutation that just isn’t at all common and not recognizable because it isn’t a well known gene mutation. Genetics is weird. And really complex. The end.
Q: What was the force or significant moment that propelled you to take control of your own health? How do you approach new doctors and other healthcare professionals?
Going through so many years of misdiagnosis takes a toll on someone who knows they are sick, but doesn’t know why. I guess when I finally got to Mayo and had so many of my concerns actually validated with proof that I was sick was the turning point. For one, it was disappointing to hear that my tumor had been overlooked quite a few times. I also understand that medicine is not magic and is only science. That being said, the bottom line is, having to travel to over 25 doctors in order to finally be taken seriously and to get
answers was what prompted me to take control of my health and be my own advocate as a patient. Once I was on the other side of it, I just wanted to do whatever I could to make sure that no one else felt the way I did when doctors called me crazy or told me they didn’t know how to help me. No one should have to be alienated and completely hopeless or labeled a hypochondriac just because they are an undiagnosed medically complex patient. That just isn’t fair.
The bottom line is, this was what prompted me to take control of my health and be my own advocate as a patient.
After Mayo, I vowed then and there that I would never let something go misdiagnosed again. I now get copies of EVERY test, every scan/MRI/x ray I request to be burned on a disc and given to me the day of the scan as soon as it is done.
Every lab result the day that I go to the doctor or hospital to get it done. I have a huge organized binder and folders full of my health info. I also have my own excel spreadsheet where I enter my lab test results every single time so that I notice trends first. Our medical system is just overloaded with responsibility because there are a lot of patients and not enough employees with the training to do what the doctors are having to do. This is my opinion of course, but I just decided that there was never going to be anyone better than me at keeping track of me and my health.
I think I pretty much answered both questions.
Obviously that misdiagnosis left me with some mistrust of the medical community. That combined with the fact that I was clearly very ill for years before any of my doctors actually gave a shit.
I was passed off as a hypochondriac, high maintenance, high anxiety young woman basically but my conditions are potentially life threatening so they are dumb and in the end, I win. I was right. The important thing going forward was not allowing this mistrust to cloud all reactions I would have with doctors in the future. Going forward after all that transpired at Mayo, I began making it very clear to doctors that I had spent far too long being ignored and overlooked. It was usually brought up that I was a bit of a medical mystery because of the weird combo of health issues I had. Mayo was mystified at the fact that I had that rare of a tumor in an even rarer place. Once I had this validation that my health needed to be taken seriously, MOST of my interactions with physicians went much better. They had no excuse to blow me off anymore. But, some are still not so friendly and understanding.
Oddly enough, currently what sometimes happens to me is that the doctors in Austin are actually too afraid or too unknowledgeable and uncomfortable about my conditions that they tell me they won’t be able to do much for me. That is a really sucky experience. I may be a time consuming and complicated patient because of my complex conditions, but I should be able to readily find doctors that are staying up to date with medical advancements and discoveries so that they know something about my conditions. I shouldn’t have to go to the ER and MAKE them review my chart to really understand what is going on because they don’t understand what “dysautonomia” is or have only heard of EDS back in med school when they used to only use the Marfan’s type of EDS as a teaching tool.
My symptoms and conditions are unfamiliar to a lot of the medical community, but most of them are actually not rare. Dysautonomia is estimated to affect 70 million people internationally and Sjogren’s affects around 4 million Americans. Doctors need to step it up, but as a patient, I can help them learn. Med schools need to utilize patient led stories that come from medically complex cases and obviously a competent patient. I think this would improve that gap between doctor and patient.
The other thing it INSPIRES me to do is EDUCATE. There are plenty of patients in similar situations to me but they don’t have the resources and support necessary to travel to see specialists. So, that is why I am trying to educate on a local level here and draw in doctors that can help us develop an integrated clinic where all specialists communicate for chronic illness patients with untraditional and complex or orphan conditions. I also want to even try to do a piece for med students as a part of their training from the patient perspective.
A common thing taught in med school is the phrase, “when you hear hoofbeats, think horses not zebras”.
This is implying that as doctors, they should never jump to something crazy but start with the most logical and common thing that it could possibly be. This makes a lot of sense. But, if the doctor reaches the end of looking for a horse, and still can’t find a horse, they tend to give up or pass you along and saying “sorry there is nothing wrong with you, all of your tests for everything common that you could have are coming back negative, you must be fine, it must be all in your head!”
Instead, it is at this point where they should think: “okay, I still hear hoofbeats and there is no horse to be found. The patient isn’t getting better, the condition isn’t self limited…so, maybe it is time we start looking for zebras.” Not enough doctors do this.
I was a zebra. Aw hell, no I am and was a freaking unicorn. I tick all the boxes for being like a zebra unicorn.
I will never forget that one of the first doctors I saw literally told me: “You know what they teach us in med school? When you hear hoofbeats, think horses not zebras!” It took so much willpower for me not to write the twat a letter and be like “DUDE I WAS A ZEBRA SO YOU WERE WRONG!!” Instead, I have just learned to trust myself and listen to how I feel about my body. 9 times out of 10, I am spot on with what is going on. I want to encourage chronic illness patients to not be shy about documenting their symptoms, researching, being your own advocate, asking your doctor to be transparent instead of sugar-coating explanations. Some patients want very little involvement in their medical care or they just feel like they don’t have the desire to learn and understand a bunch of medical stuff so they just leave it to their doctors.
That is totally fine, but either way, all patients should try to be their own advocates and cultivate a good system where you trust yourself and how you are feeling so that you know when to stand up for yourself if you feel like something’s not right.
Ultimately, it is up to you as the patient to communicate how you feel with your healthcare providers. They can’t read your mind or feel what you feel, so you have to understand your own health to some extent to be able to recognize the signs when your health is changing.
Read Part 2 here.
CeCe Collins is a full-time chronic illness fighter living in Austin, TX. She shares raw photos of her day-to-day life on social media in order to help, inspire, and advocate for others. You can follow her on instagram @cece_getyoursicktogether or read her upcoming blog & vlog, Get Your Sick Together. You can follow her service dog Ruca on instagram at @right_hand_ruca.
Photo Credit: CeCe Collins