I am writing this blog to share my experience as a formerly healthy person who gets a rare disease, my struggle to get diagnosed and get better and the crap that follows. In addition to helping me cope with my current reality, I hope it helps some of you that are in the same boat to feel a little less lonely and crazy as you make your way through this process too. If you want to read from the beginning, start here.
I haven’t posted in awhile, but I am still here. It has been a hard but fulfilling year in many respects. Both of my parents passed away within months of each other, but I had the opportunity to be with my mom in the days prior to her death and it was the single the most meaningful experience of my life (and I hope she was aware enough for it to be meaningful to her too). I just celebrated my third year wedding anniversary with M and we bought our first house together. We continued to grow closer as a couple and, with my step-sons, continue to grow closer as a family. I have been busy working and living, squeezing as much as I could out of life while the going was good. I have had these neurological symptoms progressing in the background but they were for the most part in the background. And I had made a conscious effort to be diligent about following them and keeping my doctors up to date on any changes but not letting troubling but manageable symptoms because the focus of my life.
That has become quite a bit harder now and I am back at home full-time. It appears likely I am having recurrence of Cushing’s. I have about 2-3 hours a day when I can putter around the house or read a book or answer email and then I am completely exhausted for the rest of the day. Some days, I have really extreme headaches and stumble when I walk. Doctors appointments, tests, and bed rest have started to play a more central role in my life.
This time, though, I am going to do things differently. I realize this is partly a luxury – I have doctors I trust now, I know the routine, and I have more realistic expectations about what can be figured out in a certain amount of time. I had major mental obstacles that I had to overcome the first time I got sick – how closely my identity had been tied to being an athlete, to being thin, and to my job. I have learned that I still exist when these things are stripped away.
I used to mourn the fact that years of my life had been lost to illness. Now I know that is not true either and this realization will hopefully make the next part of the journey easier. While my function has declined and I am not working or exercising or doing many things I love, time has not stopped. Today, a day that I will spend in bed, is the same fraction of my lifetime as any other day. I am committed to do each day justice, even if that just means being present when I curl up with a pile of dogs to sleep or to feel a sense of accomplishment when I carry out a small but manageable task I have set out for myself today. I am not losing life to illness – today counts too.
In addition to getting better, my big goal for the next chapter of life is to “do sick” better this time. I am going into this next chapter optimistic but realistic too. I am still going to have shitty days and rant and be impatient, but am aiming for a higher ratio of zen days to depths of despair days on this round. Let’s see how it goes.
I saw Red Riding Hood this week. In general, I wouldn’t say I am doing well. Things are continuing to slide but in ways I often don’t appreciate fully until I am in a neurologist’s office. Today, we went over the results from Neurologist 2 (who clearly deserves a name by now). There is evidence of some sort of immune attack affecting the cerebellum and non-neuronal cells in my brain. No one seems to understand yet what this means, besides another round of labs. It is also clear I am not getting a lot of REM sleep, which I could have told you – I am always tired.
As we did our usual physical exam – what pricks of a pin can I feel, can I follow her finger with my eyes as it moves to various locations, she added a new test that I like to call “Rock, Paper, Scissors” as the test closely resembles these movements of the hand. First, the rock sign, then the hand takes a shape perpendicular to my lap, then the paper sign. We start with my right hand. I see her movements. I make the rock sign with my hand and then am at a complete loss as to what to do next. I ask her to repeat the motions – rock, paper, scissors – but as I stare at my hand in confusion, I have no idea what to do.
We switch to the left hand – rock, paper, scissor, rock, paper, scissors – I move through the motions quickly and with ease. But when we return to my right side, my brain can’t seem to tell my right hand what to do. I burst into tears. I am so angry at my brain and my hand. I am so angry, I can’t find the words. Or is the absence of words also the sign of a problem? I honestly don’t know.
I had my latest brain MRI on Thursday. When I was feeling really ill, I looked forward to these days, really hoping we would find something that would give us a path forward to fixing something. Now? Not so much. Now I don’t really want to find anything. I am getting more and more symptoms, and they are weird and disturbing. And now I have a clearly abnormal test indicating there is a problem with my brainstem. But this knowledge now just makes me scared. I want to get the test done and over with and just know what’s going on. But mainly I want someone to tell me nothing is wrong even though I know that isn’t true. I am living life now, working, feeling free and looking forward to the future. I don’t want to go back to being sick. I feel like I am living in the stereotypical horror movie, when the clueless girl walks into the deserted farmhouse looking for her boyfriend, the suspenseful music is playing, nothing bad has actually happened yet. I am stuck in a loop, right there. No monster has devoured my head yet, but I have a sinking feeling something evil is in the house with me.
As soon as the MRI was done, I order a copy of the scan and take it home with me. I download a 1,000 different images of various slices of my brain and start scrolling through. I know by now this is a stupid move, but like the girl walking into the deserted farmhouse, even though you tell her she is an idiot for walking in that door, like an idiot I keep looking through the images. Is this something to be concerned about? Is that supposed to be there? I see everything and nothing and get really angry with myself for indulging this behavior.
Yesterday, I stare at my phone all day, trying to will my doctor to call me with the results. But she doesn’t call. I tell myself that must mean its good news – if the MRI was really bad, she would call right away. I tell myself that must mean its bad news – she wants to sit down with the neuroradiologist and go over the images before calling me. I tell myself to just shut the fuck up and stop thinking about it. But it is hard, especially as Friday comes and goes with no phone call, which means I will have to wait until at least Monday to get any news.
And this coming week, I am back at the NCI, where I see I am scheduled for labs, 3 CTS scans (chest, abdomen, pelvis) and now a PET scan. I haven’t even got over the scanxiety from this week and I am already worried about next week. They told me during my last visit I was only going to get CTs scans going forward. So why has the PET scan been ordered? Are we going to find anything? Is there a chance I have just developed seizures for no reason and can keep going on my happy way with my new medications? Someone please just tell me how this is going to end. After five years of plot twists I am getting really tired of this movie.
Today, I am going to try really hard to rewrite at least the next few days. I am going to go and stock up on fresh fruits and vegetables and get some exercise. Help out this piece of crap body as much as I can. I am going to an open house with my husband, keep on planning for our future. I will keep Nina Simone’s “Feeling Good” on a continuous loop until it replaces the continuous loop of the horror movie playing in my head. I may not succeed but I am going to try.
I had three nerve biopsies last week on my right leg to assess whether I have any small fiber neuropathy, which seems consistent with the patchy pins and needles feelings I have been having in my hands, feet, legs and face since June. The biopsies were taken by Neurologist 2. During this appointment, we had a little more time to discuss the results of the nerve conduction studies (the “blink test” in particular). The results were quite interesting. I had six electrodes on my face, three on each side forming half circles around my eyes. A nerve near the eyebrow was shocked on each side and the path of the electrical response was recorded via computer. When the nerve near my left eye received an electrical shock, the signal travelled from the left side of my face to my brainstem and back up the right side of my face. This is what is supposed to happen. When the nerve near my right eye received a shock, the signal travelled down the right side of my face and then stopped – there was a complete absence of a signal on the left side. When this pattern of results occurs, she explained to me, it is usually an indication of a problem with the brainstem, something in the brainstem is blocking the signal. Because she said “usually” I asked what else besides an issue with the brainstem could cause this to occur and she repeated her answer: “usually it is a problem with the brainstem.”
I won’t lie, this really stressed me out. What could be wrong with my brainstem? Is this what is causing all of my symptoms or just some of them? And if it is going to get worse, what should I expect? Numbness I can live with – will I be able to live with whatever is coming? It is very easy to get caught in an endless loop of thinking and Googling, trying to figure out what is going on, what else I should be asking, wondering about what is going to happen next. Or even just pondering with amazement what scientists and doctors have managed to figure out – that they have developed tests like this that can localize a problem with such precision, what we can learn about nerves and the brain through these tests (which seem somewhat medieval).
Now that I have been getting off and on this merry-go-round for what is going on five years, I am more and more cognizant of the fact that this is not an entirely productive use of time. And so I meditate.
In meditating, I find two exercises in particular very helpful. The first is a body scan – just scanning from head to toe, focusing on each body part and how they are feeling. And I remind myself as I do this, that I am not in any pain and that – at this particular moment – I am thinking clearly and can do pretty much everything I want to do. No matter what a particular test says or doesn’t say, my body is functioning reasonably well right now. That’s a good reminder when the “what ifs” start getting overwhelming. The other exercise I do is based on an exercise I learned through the meditation app Headspace. I imagine liquid sunshine is spilling into my body from the top of my head, trickling through my body to my toes, then filling my toes, my legs, my chest and arms, all the way up through my body until it overflows out of the top of my head. I have adapted this exercise to imagine black flecks of disease scattered throughout my body. As the liquid sunshine fills up my body, it carries these black flecks up and out. I try and remind myself that this is what I am trying to do with all of the tests, surgeries, trips. Washing away the black flecks of disease. It is a very calming and reassuring feeling and really helps change my perspective on this medical process – changing it from something frightening and invasive to something nurturing and healing.
This week, whenever I feel anxiety about what my upcoming scans will (or won’t) find, I will try and bring myself back to the present and remind myself I am not in pain. I am functioning well. I am happy at home and at work – I am LIVING. And I am slowly but surely figuring things out, finding the black flecks and hopefully removing them. I will take a deep breath and let the sunshine flow.
It has been a long time since my last post and a lot has happened. The short version is that I have had more tests that you can possibly imagine – rounds and rounds of blood tests, CT scans, MRIs, Octreoscans, endoscopies, sleep studies, EEGs, EMGs, nerve conduction studies, appointments with various specialists (2 endocrinologists, 3 neurologists, 2 oncologists, 1 allergist, 1 gastroenterologist). And strange things keep happening but we don’t yet have any definitve answers. So, in essence, nothing has changed.
So, here are my current symptoms:
- Extreme flushing on occasion. This is MUCH worse if I don’t take antihistamines and so I take a combination of H1/H2 blockers day and night. I still have some breakthrough flushing but it isn’t all the time.
- The usual GI symptoms which are not any better or any worse.
- I am still smelling smoke but some new medications are helping with that.
- Partial seizures. These manifest in a number of ways (including the smoke smell), but I will give you an example. One night, M and I were sitting in bed and my right foot curled up completely, like I had a bad muscle cramp in my foot. But I had no pain. I could not uncurl my foot. This lasted a few minutes. In the morning, my foot didn’t work properly for a few hours and then I was fine. There are other signs I am having seizures in my sleep too.
- Raynaud’s phenomenon. When I am stressed, my toes turn purple/black. And sometimes, I now get these weird changes in color on my feet – one half of both feet will become snow white while the rest remains a normal color, with a straight line separating the colors. It is very strange, but there it is.
- I have patchy pins and needles in my limbs and hands, especially on the right hand side. My tongue and lower face usually has a pins and needles feeling as well.
- I am starting to lose a few words here and there.
Little Red Riding Hood has been leading the charge locally. The last set of tests I had were last week – EMGs and nerve conduction tests. The neurologist who did the tests was not a man of many words, but at the end of the first round of EMGs, on my lower limbs, he told me the results were basically normal. If you have never had an EMG, it is an interesting test. Small needles are put into various muscles. Electrical activity is measured when the muscle is at rest and then you have to contract the muscle with the needle in it to see what kind of electrical activity results (while the neurologist twists the needle like he is trying to tune an old fashioned radio). During the appointment for the upper body EMG, he did a physical first and discovered my triceps completely give out after applying resistance for a few seconds. He and I were both startled by this, although I had noticed my arms were getting very fatigued when washing my hair in the shower. But the EMG study of my upper limbs was “not very abnormal.”
Just as we were about to finish up, he asked me about other symptoms and so I told him about the numbness in my tongue and then added that the numbness was also around my lips and tongue. He stopped and gestured in a circle to his own lips and chin and said “Here?” When I confirmed he asked me to lay back down so he could do one more test. The next test was a nerve conduction blink test. In essence, a set of electrodes are put around both eyes and a nerve that runs through the eyebrow area is shocked repeated. As the neurologist was conducting this test he started getting very quiet. Then started asking me questions, like “what other tests have Red Riding Hood and Neurologist 2 ordered?” and “has anything ever happened to your brain?” after which we had a conversation about my pituitary surgery. Then he kept looking at the screen and intermittently administering shocks to my face.
When he took the electrodes off my face, I asked “so, how did I do?” He just said “I have to look at the results more closely. But there are abnormalities.”
Neurologist 2 (who I was referred to for these specific tests by Red Riding Hood) called me first thing the next morning. The results of the nerve conduction studies on my face appear to indicate a problem with my brainstem. She and the neuroradiologist had gone over my last MRI in detail together and did not see an abnormality, but the (many) MRIs of my brain on file didn’t really focus on the brainstem, so she ordered a special study of just the brainstem with lots of fine cuts. She also wanted to take a few nerve biopsies from my skin from various locations and is going to do that next week.
I also had some interesting lab results come back, thanks to Red Riding Hood who has become a NET expert this past year:
- My serotonin was LOW, less than 10 when the lower end of the reference range is 56. We are very unclear as to what is causing this but it is indeed strange.
- My prostaglandins on last check about 8 months ago were 1.4 times the top of the reference range. Now they are 2.5 times the top of the reference range.
Red Riding Hood is also a women of few words (my impression of neurologists so far is that they keep their cards close to their chests). I have asked her before what she thinks is going on, and she has simply said “I won’t know until we do more tests.” Since I have now seen her 4-5 times over the course of the past year, I am getting better at asking questions. On our last visit, I instead asked her “what is in the set of differential diagnoses for me?” She said she thinks it is a paraneoplastic syndrome from an occult cancer that we haven’t found yet/a NET. Which is what I think too.
My last CT scan at the NCI in August also showed a new hyper vascular lesion in my liver, but it was very tiny. Is that where it is? Or is it on my brainstem? Somewhere else? I really wish I knew so we could do something about it instead of what feels like waiting for whatever this is to get worse to a point of no return. I can live just fine without a parathyroid, part of my pituitary, and without my thymus. I need my brainstem.
Although my current symptoms are troubling, they are not disabling. I can still work and socialize and completely joy life free of limitations (except energy at times). But over the course of the year, things have definitely been progressing. What if the next progression is not so kind?
This feels so much like the first few years of being sick all over again. Strange symptoms slowly progressing until I get really sick and we finally find the tumor. Surgery, recovery, new strange symptoms, and start the process all over again. Some days, I get very discouraged and depressed about this. Most days, though, I remind myself that I have the ability to adapt and I can find a way to make this manageable. Being around positive and supportive people helps. Meditation helps. Just repeating to myself every morning: “I am not in pain, I can think and speak clearly, I can work hard, I can do everything I want to do” helps a lot. And the good thing about all of this is that I do have the luxury of really cherishing this time, right now, when I am spending quality time with my family, working on interesting projects with a team I love, making plans for the future with my husband. This time is so valuable, impending problems or not. But impending problems have been a great reminder of just how valuable this time is.
Next week is nerve biopsies and another MRI. In three weeks I am back at the NCI for another round of labs, CT scans and a PET scan. With the current clues in hand and more tests coming, I am hopeful we are close to catching tumor #4 before he does too much more damage.
Someone recently asked me to write a post about what to say/not say to people in your life that are struggling with a serious illness. And although I love the idea of these posts and have gained a lot of insight from some of the posts on this subject that were written by others, I always worry someone will assume the post is about them and get offended. (There is always that one person that thinks everything is about them – you know who you are, you are reading this right now and asking “is she talking about me?” Yeah, you.) And I don’t want to offend anyone, but I do think there are many well meaning family and friends who DO want to be helpful and say and do helpful things but don’t know how.
Getting very sick at some point, I think, does help you develop some perspective on this. And one of the articles I did read that really resonated with me is this one:
The article reminds people to think about where they fit in the grand scheme of what is going on in someone’s life. This, I think, is key to being supportive. Don’t put demands on people that are in the middle of a crisis. This is not about you. Think about how you can be helpful but not a nuisance. Don’t make things worse. The other point the article didn’t make but is just as relevant is: don’t disappear. If you talk to people that get a serious, prolonged illness, this is the most heartbreaking thing you hear. At some point, people just stop showing up or checking in. And that doesn’t mean you have to be preparing a five course meal for your loved one or family member every day for years, but it does mean that you should regularly check in.
Having been sick changes how I view being supportive. I think it has made me better at being supportive, but really you would have to ask the people I am trying to support to know whether this is true. But here is what I am trying to do. Someone very close to me, very suddenly discovered they have an inoperable, aggressive form of cancer that is going to shorten their life considerably. And things have gone downhill fast since the diagnosis. I love this person and their family very much and this is breaking my heart – so I can’t even imagine how they are feeling. And they live far away, and so I can’t see them regularly as they go through this, although I am going to see them soon. But I want to be supportive. So here is what I try to do:
- Sit down and draw out your best guess of the sick person’s circle (see figure in the article I linked to above) and tried to accurately gauge your position in it. Doing this, I concluded this is around Ring 3, which means my job is to support the immediately affected family and the family members that are directly supporting the inner circle (a member of my immediate family). Going through this exercise helps remind you that not everything in life is about you. And on that note, unless the sick person is your spouse or one of your children? You are probably NOT Ring 1. It might help to draw your own circle first. If you are gravely ill and in the middle of your own circle, who is in Ring 1, 2 and 3 for you? What ring does would the currently ill person belong to in your circle? That’s probably how far out you are in their circle as well.
- Don’t try and get an all-access pass to Ring 1 if you aren’t welcome and don’t belong there. Be respectful of the fact that Ring 1 might only want to talk to Ring 2. But be close enough so that if Ring 2 is letting them down or is entangled in their own crisis, Ring 1 knows you are source of support. How do to this? Stay closely and regularly connected with the appropriate inner circle and run your support up the chain where appropriate. When I heard the news and after consulting with Ring 2 to make sure Ring 1 and the patient were up for phone calls, etc. I called Ring 1 and said that I would like to just regularly check in, but that they should not ever feel obligated to pick up the phone or call me back. The purpose of the calls was just to let them know (1) I was thinking of them and (2) Ring 3 was going to be here, consistently, for the duration. And I then I tried to call at hours that would not disturb them every few days to talk or leave a message saying “I am calling to check in and say that I am thinking about you. I hope everything is going ok today for you. Please don’t feel the need to call me back or pick up – I will call again in a couple of days.” And then keep doing it. Keep checking in.
- Don’t obligate the inner circles to do anything for you. Don’t make them feel pressure or guilt. In my particular case, the regular calls are helpful and appreciated. I know this because I am told the calls are appreciated and Ring 1 and the patient often call me to talk now too. If they had preferred not to hear from me at all? That is A-OK too. The goal is not to make you feel good about your support – the goal is to support them in the way that is most helpful. Make sure they know that. And for the love of god, don’t get mad at them if they didn’t comment on the special meatloaf you made for them or if they missed some important milestone in your life. Don’t tell them how uncomfortable or upsetting your illness is for them or say things like “you’ll be fine” or “well, you look really good.” Just sit down and try to imagine how you might feel if you were in their position, as painful as that might be, before speaking. Even easier, read the dozens of great articles out there by patients that talk about what to say or not say (such as the link above) if you want guidance. As the above article says, dump out, not in. Think about what they are going through. Think about how little physical and mental energy they have to deal with anything other than surviving the day. And cut them a lot of slack.
- Offer concrete things you can do to help – not just “oh, let me know if you need anything” – but don’t push them. Because I am at a distance, I can’t be there to drive people to appointments for example. But I am a good researcher and I offered to try and look up treatments and look at pathology reports, read up on mutations, etc. so they had information and questions to ask their doctors. They are overwhelmed right now and this was something they wanted help with. I did not just send them piles of information, though, or give them unsolicited advice. I still haven’t and I won’t. I gave a list of things I could do to help and I followed through on the ones they wanted help with. I can also fly out and help at a point where they DO need extra help driving to and from the hospital. And when it is my time, Ring 3 will be there.
- If you are outside the first few rings, and you want to continue to have a relationship with the people in the inner ring, don’t just disappear. It hurts to see people just stop showing up. They are already losing so much. Don’t make them watch their friends and family disappear just because the situation isn’t comfortable for you. Do the hard, but right, thing. Just keep being there. If nothing else, keep checking in with Rings 2 and 3. Send cards. Drop off food. It’s not that hard and it means a lot.
As you know if you have been reading this blog, I have my own health problems to deal with, as do many of you. As the article (above) says, at some point everyone will get their chance to be at the center of a circle like this. It is a sad reality but most people will have to face a life-ending illness at some point. Most people will likely live through the death of someone very close to them. Everyone will have to face their own death. But so many of us handle serious illness and death so badly, hurting the people who need support the most. It is never too late, though, to learn a new skill, to do something differently. I am trying. I hope you do too.
I saw the neurologist this week (I’m going to refer to her as Red Riding Hood from here on out). After the examination and describing my symptoms to her and the neurology resident, Red Riding Hood asks me if I am having vision problems. Intermittently, I do have trouble focusing and today is one of those days. She has noticed my pupils are large and that they are slow to adjust when she shines light in my eyes. I describe to her my discussions of this issue with my eye doctor over a year ago. She asks me if I have been having digestive issues and if I have low Vitamin D and ferritin – and I do! This has been a consistent issue. I tell her about my malabsorption and other problems and she says “aaaahhhhhh….hhhhhaaaa” like this is what she suspects I might say. She then tells me that she suspects I am experiencing autonomic dysfunction caused by a tumor somewhere. She doesn’t think it is the pituitary tumor; it is likely whatever the NCI is looking for. She thinks the smoke smell likely is a partial seizure disorder and prescribes an antiseizure medication and orders the EEG which I will have in a couple of weeks. And we will go from there. She asks if I have any questions and I don’t really have any, because I am completely taken off guard and don’t even know what to ask.
As I walk back to my office, I call my husband to fill him in and tell him the appointment was kind of mind blowing. It is not often someone is able to explain a huge number of my symptoms in one sitting like that. The other amazing thing we talked about is how different doctors appointments are these days relative to even 18 months ago. If I would have gone to a doctor 18 months ago complaining of smelling smoke, I would have been laughed out of the office. Now, instead of being told I am just a head case, I really feel I am being taken seriously. Now, I don’t feel like I am being laughed at – I hear real concern. It puts my mind at ease, because I am obviously concerned too and it is reassuring to feel someone who might be able to help actually gets it.
But as I walk and we talk, now I have questions. So maybe this can explain the symptoms, but what does it actually mean? What exactly is causing the autonomic dysfunction? Is this serious or not? Is it reversible? Ah Google. How I love and hate you. I tortured myself reading everything I could get my grubby little fingers on for two days and then realized I had to stop. No matter what Google tells me, it doesn’t change the main facts. Whatever is going on inside my own body, whatever is spitting out peptides, hormones, causing reactions and symptoms, is going to continue on its merry way whether I am sitting inside on my computer reading every study on paraneoplastic syndromes published since 1975 or sitting on a patio in the sunshine having a mojito.
I am smelling smoke. My vision is blurry. I am tired and have a whole host of other symptoms. But I am ALIVE. And I am not on my own anymore, figuring this stuff out with just Google by my side, fighting to try and get a doctor, any doctor, to listen to me. I’m not out of the woods yet, but I now have a team of doctors, my family, and a whole set of fellow patients making the journey with me. And it is really fucking sunny today. Time to put away my computer and focus on living today. Red Riding Hood can worry about the smoke for now.