Not Feeling Good

After I get out of the hospital Saturday night and spend a weekend back at home, I decide to get back to work planning my next steps Monday morning.  I start most mornings the same way these days.  I sit down at my computer in our home office and the first thing I do is listen to Nina Simone sing “Feeling Good”

When I hear this song, I imagine walking on the pretty bike path behind our house, soaking up the sun and the fresh air.  It helps remind me of why I need to keep moving forward somedays, to keep booking appointments, faxing records to doctors and insurance companies, to keep researching and testing in an effort to keep this stupid diagnosis moving forward.  I want to feel better again, like a normal person.  By noon, I know I will basically be back in bed for the day so I really try and make the mornings count. And hearing the song helps.

This Monday morning, I work on getting an appointment to see a local  expert in neuroendocrine tumors (NETs), with the help of one of my very dear soon-to-be in-laws.   I have an in-take interview with the new doctor’s staff on the phone and after providing details on my history, symptoms, and scans, I am reassured when I am asked if I have had a biospy yet (no!).  They are going to get me in quickly – I can come in to see her the following Monday.

By Friday, I also get a voicemail from the office of another doctor, a high-risk cancer expert at the hospital I was discharged from over the weekend.  According to the message, “my doctor” asked for this referral and that although this expert is booked out several months they are going to find a way to get me in soon.  I have no idea who “my doctor” is at this point, but I am glad someone from the hospital appears to be taking my case somewhat seriously there as well.

The rest of the week, I spend resting.  The steroids I am taking at home are definitely helping to keep the carcinoid syndrome under control, but I am completely wiped out.   I have a couple of “active” hours on my computer most mornings but then am back in bed.  I am limiting showers to twice a week and am not even running errands out of the house  anymore.  I don’t have the energy or the breath.  I still can’t see properly.  And I am really limiting what I eat so I can avoid another hypertensive crisis.

As my life continues to get more restricted, I keep feeling more and more frustrated and bitter and overwhelmed.  By the time I sit down to listen to “Feeling Good” on Sunday morning, I have to fight the urge to throw the speaker at the wall.  It is just such bullshit. I am so sick of this shit.  So sick of all of it.  I am sick of not feeling good and I am sick to death of doctors and hospitals and tests.  The closer the next doctor appointment gets, the harder it is to feel anything but frustrated and angry.  After all the dead ends, it is just too hard to believe I am going to get help tomorrow.  I don’t have it in me anymore.

And even in the unlikely event I walk in tomorrow and the doctor tells me they are going to remove my thymus right away, where will that leave me?  What are the aftereffects going to be? What if it has already spread?  The more I read about thymic carcinoids, the more worried I get.  And best case scenario, surgery is soon and successful and they get it all, I will just go back to where I was in November, before all of this carcinoid crap hit in February – still sick.  Getting rid of my thymus is unlikely to be the end of my bone pain and all my digestive problems and severe fatigue and all the other shit that started brewing almost one full year ago.  I still probably have one or two other tumors that are responsible for those symptoms. How long will those diagnoses take and what will those treatments entail? And these are only the problems I suspect at the moment.  What else is going to rear its head in the next few months?  And this is all after the 18 months I had to deal with Cushing’s…. I feel like Mickey Mouse in the Sorcerer’s Apprentice – the more I try to clean up the faster the brooms keep marching in.

Sometimes it is just too much and today is one of those times.  I have a good cry, I hug M for a long time and I try really hard to remind myself that my goal for tomorrow is just to make a little progress.  That’s all.  Tomorrow is not going to fix everything – I need to accept that now.  But this doctor sounds really good and really appropriate and I have to give her a chance and hope she gives me a chance too.  And she may not solve all my problems, but tomorrow has to help in one way or the other.  The NIH trip felt like a bust, but I did get the Octreoscan which very well may end up getting me diagnosed quicker on this next round.  And even though the week in the hospital seemed like a complete waste of time, someone there did get me a consult with a specialist that might actually help me too.

I am not Feeling Good today.  I am not anywhere close to being able to take a walk on the bike path behind my house and enjoy the sun and the fresh air.  But after the next doctor appointment, I will probably be a couple of inches closer.  Probably no more.  But hopefully no less.

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The story of a treasure map in the hands of a blindfolded and handcuffed man

After arriving in the ER Monday night, I was finally transferred to a regular hospital room Tuesday evening where I stayed until Saturday afternoon.

While in the hospital, I was treated with Pulmicort, the third steroid asthma medication I had tried this month.  As with the others, it didn’t help improve my breathing function.  And just as before I went to the ER, I had exactly the same breathing problems as before:  if I stayed very still and quiet I could rest comfortably.  If I tried to get out of bed or talk, I would gasp for air and cough.

I met the attending that would be responsible for my care Wednesday morning.  I got a very good first impression of him.  We talked about my symptoms and he looked at my chest where there were still clear localized signs of flushing.  I talked to him about some of my other odd labs (e.g., my very low TSH despite lowish T3 and T4 and the connection to somatostatin) and he seemed to take all of this information in and was receptive to the fact that this could all point to some sort of endocrine problem.  He wanted to get an endocrine consult and told me he would be lining that up.  I passed along the Wizard’s pager number and asked him to contact him as he knew my case better than anyone. I had been letting the Wizard know what was happening via email updates as the situation unfolded so he knew what was going on as well.

But the endocrinology consult never happened.  The next day, I was told the Wizard couldn’t be reached.  A message had been left for him, but the name and phone number on the message wasn’t clear and the Wizard’s admin person couldn’t make out anything except the main hospital number in the message.  She also eventually left a message for the attending with the Wizard’s private email address to help the attending connect with the Wizard, but the attending never emailed the Wizard.  The attending wanted the Wizard to fax over all my records (which suggested someone wanted to look at them, although this seemed so much less efficient than just talking to the Wizard) and to speed that up, M kindly brought all my records to the hospital.  The attending refused to take them from me.

Partway through this process, I asked the attending for his contact information so I could help facilitate a direct contact with the Wizard.  After he left the room, I picked up the card to look at it and realized I couldn’t read it.  My reading vision within about 14 inches of my eyes was all messed up.  I couldn’t focus and everything was blurry.  My longer range vision was perfect, which is why I never noticed the problem until this point.  Right away we alerted the nurse who paged the doctor.  He ordered a CT scan of my head right away and we were told the CT scan came back normal.

At this point I am going on three days in the hospital with no additional tests, no endocrinology consult, no plan. I started to get more pushy and asked more and more questions when the attending would come in to see me.  Given the asthma meds weren’t working why weren’t we doing more tests to rule out problems other than asthma?  The Octreoscan pointed to a potential thymic NET and the NIH said I was supposed to have a follow CT scan right about now, so could you please order one?   Thymic tumors could cause vision problems and there are blood tests to determine whether this is the problem. Can you order those?  Given the flushing, can’t we please run some carcinoid tests?  Do you  have any explanation for why my blood pressure spiked on Monday night?  Can you please email the Wizard?  And so on.

And the result was that the attending stopped coming by as often.  And had random and stupid answers for my questions.  He doesn’t see any breathing problems because I am breathing fine when he comes to see me (because I am in bed) and my oxygenation levels are fine.  The nurses are upset by this and start leaving detailed notes in my electronic record about the fact that THEY CAN HEAR a wheeze in my chest (in the same spot as the Octreoscan of course) and that when they see me move around I AM struggling for air and coughing.  They also tell the attending repeatedly they think I need a CT and a bronchoscope, but they don’t get anywhere either.  When I point blank asked him for a CT scan of my thymus, he said maybe later but that he was reluctant to expose me to further radiation for my own safety.  He thinks maybe I am flushing because I have hyperthyroidism because my TSH is so low, but the thyroid tests he orders indicate I have hypothryoidism, not hyperthyroidism (as I have been saying all along).  The blood pressure spike?  He wonders where the ER personnel simply put the cuff on wrong and it was an error.  As he wasn’t there and didn’t see it himself, he didn’t want to comment on that.   My new vision impairment?  He told me that maybe I was diabetic because I had Cushing’s, but I had never had blood sugar issues and he never actually ran any tests to see if in fact it was a blood sugar problem.  He never ordered any sort of follow-up tests for my eyes in the days in the hospital that followed.  He refused to order the blood tests I asked about to rule out thymic causes of vision problems because he feels an endocrinologist should order those, and of course he hasn’t been in contact with my endocrinologist.  The only thing that did get ordered was a 5-HIAA 24 hour urine test for carcinoids, which I was happy to get started on (although this particular test is rarely useful in diagnosing thymic carcinoids it was at least something).

When he walked into my room Friday morning, I burst into tears.  I was trying to be a reasonable patient, but the weekend was coming and I knew nothing was going to happen over the weekend and I was just asking for reasonable tests and for contact to be made with my endocrinologist and nothing was happening.  I was beyond frustrated at this point.  And so finally he agreed to order some tests and consults.  But the ones he ordered were pretty useless.  He ordered a second pulmonary function test, which indicated I had evidence of obstructive lung disease that didn’t improve after taking asthma meds (i.e., the test results were NOT consistent with asthma).  He also, for reasons that completely escape me, ordered a consult with an ENT who put a scope through my nose to look at my voicebox – a good 4-5 inches above the problem area – to make sure the problem was not coming from my throat.   Which of course it wasn’t.  Why he would order a scope of my voicebox but not my bronchial tubes is a complete mystery to me.  All the ENT saw was an area that was a little beat up, likely from GERD.  And they put me back on Prilosec.   Needless to say, this has not helped my breathing improve.

The attending promised me he would come back Friday afternoon so I could talk to him about the plan before the weekend.  But he never did.  I had the nurse page him and he never responded.  So I waited in hopes I would actually see someone Saturday morning.  After four days of sitting and waiting in a hospital bed, I wanted to get out at this point so I could at least go somewhere I could get some help.

In part, I am angry at the attending at this point.  It seems so incredibly obvious to me what needs to be ordered and his refusal to do anything is beyond frustrating.  How can he be so f’ing blind?  How can he not just run some of these things to rule out a carcinoid, if for no other reason than he has no other (intelligent) ideas for what is going on?  But if I try and put myself in his shoes, I do feel bad for him too.  If I were him, I wouldn’t want a patient like me coming in.  No way.  No local endocrinologist (and bad blood with the local endos after they completely bungled my Cushing’s diagnosis and I complained about them last year).  And an array of weird and confusing symptoms and nothing but a suspicious Octreoscan.  And what is he going to do with that?  He has never looked at an Octreoscan in his life and never will – that is not what he is trained to do.  He is a hospitalist whose job is to stabilize people, get consults with the right doctors and get the patients out of the hospital.  The blindfold I blame on him.  The handcuffs I blame on the system.

And part of that “system” is me.  I know from my discharge notes that the hospital is frustrated with me because my care is fragmented – I have specialists and doctors all over the place.  But this did not happen because of poor planning or carelessness on my part.  When I started getting sick back in 2012, I had all my care through one hospital.  I had two doctors –  one endocrinologist and one PCP – and I had been seeing both of them for many years and they communicated easily with each other.   But then I got sick and repeatedly saw other doctors in the system that failed to diagnose me.  And my PCP was unable to get me to a specialist that could help me locally and made it clear she thought it was laughable that I was considering going to LA to see some doctor she didn’t know to get help.  But after exhausting options at three local hospitals, it was necessary.  This is not an ideal situation for me either.  But it was necessary to get rid of Cushing’s.  And so now that I am sick again, trying to sort out another rare endocrine problem again, I am doing so with fragmented care.   Its frustrating for the doctors and it is frustrating for me.  But that is my reality and the reality, I have learned, of many patients with rare diseases.  And there is no way I am going to stop seeing the Wizard now – he is far away and outside the system but at the moment he is the only doctor I trust can help me sort this out.  Again.

Saturday morning, there was a very welcome breath of fresh air.  A new attending came in and after I showed her the picture of my chest and explained what was going on she said to me “Well! We should order a CT of your chest!”  And it was done within the hour.  Thoracic surgery also came to see me and collected my history all over again.  And everyone looked at the CT images and came back and told me…they hadn’t changed since the ones done at the NIH.  The report doesn’t sound like they are clear on what exactly they are looking at though, which is consistent with the debate that occurred at the NIH. The report describes what they see as soft quadrangular tissue in the mediastinum “most in keeping with residual thymic tissue or thymic hyperplasia.”   The radiologist thought that I needed to have more detailed scans (i.e., an MRI) to try and get a better look at what this “thing” is….in 3 to 6 months.  If we need to get a better look at this “thing” why wait?  Why not get a better look now, given my symptoms NOW and the fact that you aren’t sure what you are seeing NOW? That is a question I don’t have the answer to.  Thoracics subsequently told me they agree something is clearly wrong but they don’t have the expertise as surgeons to sort it out, so I needed to see someone who did.  And while this is a perfectly reasonable answer, I am not given a referral to see anyone that might have this expertise when I am discharged that day.

Sunday night, I had a chance to talk to the Wizard.  His conclusion:  “you need to get that thing biopsied.”  It is his opinion (and mine too) that we need to rule a thymic carcinoid out.  Carcinoids in general can be pretty slow growing, but thymic carcinoids in MEN-1 patients are typically very aggressive – they are a leading cause of death in MEN-1 patients (who already have markedly lower life expectancies) and the thymus is often removed as a preventative measure in MEN-1 patients to avoid ending up with a thymic carcinoid.  Needless to say I am anxious to get this sorted out in the event this is what we are dealing with.  So, I return home and wait for Monday morning to try and figure out how to make this happen.

In case you are wondering about the one relevant test that was ordered…  The 5-HIAA test for carcinoids was rejected by the lab because the wrong collection container was used.  And the test was not reordered.

A treasure map leading to the ER

The weekend after I received my “asthma diagnosis” for the second time, despite my growing doubts, I went downhill fast.  After two days on Symbicort I really started to struggle.  I had brunch with a friend on Sunday morning and after talking during brunch I literally couldn’t talk for the rest of the day.  And Monday just got progressively worse.  I emailed my pulmonologist in a bit of a panic, because the inhalers were not really touching my breathing problems and my flushing kept getting worse with every meal as well.

By the time M got home from work Monday night, I felt really bad.  There was no way I could get up and walk around, much less cook dinner, and I was seriously craving comfort food so he agreed to bring me the essentials  – a baguette, cheese, pate, some cornichons, some wine and chocolate.  I know, not the healthiest of meals, but I had been really suffering and felt like I deserved a little indulgence so no judging.   After eating, things quickly went from bad to worse.  I started flushing profusely and in a strange pattern:

Flush

The flushing appeared to originate in a dime-sized spot in the middle of my chest.  As you can see from the picture, there is a red cone of flushing that extended upwards from this spot into my chest, neck and face.   Interestingly, the red spot on my chest is the same location that the Octreoscan indicated was suspicious for a neuroendocrine tumor.

Octreo

Carcinoids (like the one I suspect I have) can release substances, like histamine and serotonin, which can cause flushing and which in large doses are toxic.  Do I think the Octreoscan and the flushing are related at this point?  Hell, yes.  How can they not be?  A dear friend of mine calls this picture a treasure map – my body is trying to show the doctor where to start digging!  Does any of this mean anyone is going to finally take me seriously?  Time would tell.

Within two hours of eating it was clear I had to go to the ER.  I felt like I was on fire and I was having a very hard time breathing.  There was no way I was going to be able to get enough air to make it at home through the night.  M and I hopped in the car and went in.  I was really struggling for air and beet red and got through triage and back into a bay in the ER very quickly.  My blood pressure was 222/119 which set off a bit of panic in the ER (for those of you with limited knowledge of BP, 180/110 and above constitutes a hypertensive crisis and requires emergency care).

http://www.heart.org/HEARTORG/Conditions/HighBloodPressure/AboutHighBloodPressure/Understanding-Blood-Pressure-Readings_UCM_301764_Article.jsp

I described to the head ER doctor what had been going on and after hearing my brief history and seeing my flushing he right away started the workup for a pheochromocytoma (another endocrine tumor that can cause fatal spikes in blood pressure).  I later discovered that they also tested me for every illicit drug and toxin on the planet.  Although I may have OD’d on cheese, I certainly was not in there because I had a little too much cocaine, folks.  And despite the fact that I said carcinoid 80 times while I was in there, and the fact that carcinoids can also cause hypertensive crises, the only thing he didn’t test me for was…you guessed it….a carcinoid.

As doctors were running around ordering tests and the nurses were trying to get an EKG, I started to feel an adrenal crisis coming on.  I got lightheaded very fast, started getting a really bad stomach ache, and salivating like I was going to start throwing up rapidly.  M and I right away started telling them I was going into crisis and they needed to get a shot and get it NOW.  The ever-prepared M, having been through this before, whipped out my emergency letter and told them I had a shot ready in my purse if it was going to take them a long time to get going.  The nurse was getting annoyed as she was focused on getting my EKG and kept ignoring me and telling me to wait…until my body locked up and I started screaming involuntarily.  It thankfully didn’t take them long to get the shot after that and after blowing out two sets of veins in my hand (I was so seized up I couldn’t relax my rigid arm and stay still enough for them to get the IV in), they finally gave me Solu-Cortef and I quickly returned to “normal.”  The ER nurse who had been rude and dismissive later came back in to tell me she spent her whole dinner break learning about adrenal crisis and had no idea how serious it was until she saw what happened herself.   I am choosing to count that as an apology.

The Solu-Cortef got me back to my pre-ER state:  still having trouble breathing if I moved, still flushed, but stable.  My blood pressure was all over the place – from too low to too high, but no longer in the crisis range.  I spent 20 hours in the ER and then was transferred to a room in the cardiac ward so they could figure out what was wrong.

It was really clear to me what the prime suspect was at this point.  The Octreoscan indicated there was a tumor in this area.  And thymic carcinoids are a part of the constellation of tumors that MEN-1 patients can get (and I was in the middle of a MEN-1 workup).  The skin on my chest looked like the flushing was originating in the same area that was suspicious on the Octreoscan, I had classic carcinoid signs (flushing, breathing trouble, coughing).  Furthermore, foods like wine, cheese, pickles, and chocolate – all foods I ate that night – can set off a carcincoid hypertensive crisis.  Finally, the “asthma” I had been diagnosed with was not responsive to asthma medication.  It seemed like such a no-brainer to me that I was very confident a few days in the hospital and the right tests, which would obviously get ordered, would get this all sorted out and I would be on the road to getting this taken care of.

The verdict from the pulmonologist

Is that I have a classic case of asthma.  Why asthma?  My pulmonary function tests indicate obstructive lung disease (and asthma is an obstructive lung disease) and my pulmonary function test results improved after taking Albuterol.  Those two pieces of information together are indicative of asthma.  My peak flow when I did the pulmonary function test about a month age was 380.  For someone my age and size, that number should be around 490.  When I did the peak flow test in the pulmonologist’s office?  It was 300.    So if it is asthma, it is getting a lot worse.

So the pulmonologist put me on Symbicort.  The problem is that so far it isn’t working.   I am wiped out.  My chest is burning and just a little bit of talking gets me coughing.  This doesn’t feel like asthma to me.  I am not convinced that it is asthma.  I was willing to give the asthma diagnosis the benefit of the doubt, but as the medication continues to do nothing, my enthusiasm for this little experiment is waning fast.

I have emailed him to let him know the meds aren’t working and that, combined with the fact that the NIH wanted me to have a repeat CT scan right about now and the fact that I am still flushing (consistent with a carcinoid, which can grow in the thymus which is roughly the location of the activity on the Octreoscan) that I would feel much better if he would order the CT scan and maybe a bronchial scope.  We will see what he says.

In any event, my Plan C is going to be a consult with a well-known (and expensive) out-of-state carcinoid expert.  I made an appointment today and was able to get an appointment at the end of March.  I am really hoping I can make some progress locally before then, but if not I will just have to hang on, hop on a plane again and hope that a fresh set of eyes will lead to some new answers.

The results are starting to trickle in again…

My lab results have started to trickle in and are intriguing.  Here is the quick rundown:

My calcium is back up into the 10s after the drop in January – two rounds of tests are back at 10.1, which isn’t crazy high, but it is a heck of a lot higher than the 8.9 and 9.4 I had at the NIH.  And my PTH is 19 – not high enough to be diagnostic for sure, but certainly not suppressed.  I have been working very hard on my diet this past month – only eating lean proteins and lots of fruits and veggies to try and give my body a shot at absorbing as many nutrients as possible.  On the advice of some very wise friends, I have also started taking digestive enzymes at each meal to help the process along.  I still have signs of malabsorption, but they aren’t as severe as before and the pain in my URQ has disappeared.  So, I think the change in diet and the enzymes are actually helping me absorb nutrients, including calcium.  As an added bonus, I have lost 8 pounds too!

My glucagon was suppressed.  This seems consistent with my (admittedly far-fetched) theory that I might have a somatostatinoma, as somatostatin suppresses glucagon.  And my insulin-like growth factor (IGF-1) also fell by about 25 points.  It has been 177 consistently after pituitary surgery.  Now it is 153.  Not crazy low, but a solid drop which is weird given I am one year post-op.  IGF-1 is stimulated by growth hormone, a pituitary hormone that can also be suppressed by somatostatin.   However, IGF-1 can also be low because of poor nutrition which has been a concern because of my digestive issues.   So both of these results might indicate a problem…but it is still not clear what the problem is.

So, the current plan is to keep testing.  I plan to keep up the PTH and calcium testing, once or twice a week, to see if the return of the 10s is a blip or if my calcium stays in the 10s and my PTH starts increasing too.  Hopefully this will help me rule a parathyroid adenoma in or out.    If the calcium and PTH tests get high enough to be diagnostic, I will use the lab reqs I have from the surgeons and finish their testing and hopefully get cleared for surgery.  If not, I need to move on to another explanation for my bone pain and abnormal bone labs.    As for the glucagon and IGF-1, I want to try and complete a few more labs that I think will help strengthen the case that somatostatin might be the culprit and, with my stronger case, ask the Wizard for the somatostatin test one more time.

Getting the extra labs tests done, though, will require a little finesse….

Plan B: Confer with the Cushing’s Wizard and get some second opinions

After coming home without a diagnosis from the NIH (yet – I am still waiting on the genetic test which may or may not shed light on my situation), I decided to take the new information I had and get some local consults.  I also planned to discuss the NIH findings with the Wizard to hear his thoughts on where to proceed from here.

My cardiologist gave me the name of a trusted thoracic surgeon, so I set up a consult with him to discuss the Octreoscan findings.  My GP recommended a pulmonologist and a GI doctor specializing in the liver to follow up regarding nodules found in my lungs and liver, respectively, so I set up these consults as well.  I also decided to get a local parathyroid consult and, given my substantial mistrust of local endocrine doctors after my multiple failed attempts to get diagnosed with Cushing’s locally last year, two parathyroid consults for surgeons in other parts of the country that came highly recommended by other patients.

The Wizard and I mainly talked about my thyroid labs.  He does not think my bones are being destroyed because my T3 and T4 are too high and neither do I.  However, we were going to try some experiments with my thyroid meds to see if switching to a different combination of drugs caused my TSH to return to normal.  Stay tuned.  He ordered some additional tests, including a bone-specific Alkaline Phosphatase and that came back at almost double the upper limit of normal which confirmed a problem with my bones.  He thinks my breathing problems are likely due to asthma and recommends I follow up with a local doctor about this, which was already in the works (even though I do have doubts about the asthma).  I asked him about the possibility that I have a somatostatinoma and he thought that was too rare and didn’t order the somatostatin test.  However, given I was having digestive issues, he also ordered a glucagon test (glucagon is another pancreatic hormone that can also cause digestive distress to put it delicately).   If my glucagon was elevated, it could indicate a different kind of pancreatic neuroendocrine tumor, a glucagonoma.  So many pancreatic tumors, so little time.

The thoracic surgeon looked at the CT scan with me and we had a good conversation.  He said he was going to reach out to my cardiologist and the local parathyroid surgeon I was seeing in a few days to get everything coordinated for me.  He was also going to sit down with a radiologist and go through the Octreoscan with him and then call me back.  He wasn’t accustomed to looking at Octreoscans and wanted to make sure he knew what he was looking at.  It is not clear whether he actually did any of these things, as he never called me back, but he sounded like someone who was at least taking me somewhat seriously.  At some point, he told me that I really should have someone coordinating all my care but when I asked him who this magical someone was supposed to be, he didn’t really have an answer.  I told him that until it was clear what I had, it wasn’t obvious who should be overseeing my care, so for now “someone” was me and he ended up agreeing.  Whether he was agreeing to be nice or really agreeing is anyone’s guess.

The parathyroid surgical consults were a real mixed bag.  The local consult was, in a word, horrendous, and inspired my earlier post about monkeys.  The other two surgeons recommended further testing and I am working my way through those tests now and will report back on this progress (or lack thereof) soon.

I liked the pulmonologist as well.  He wasn’t too concerned about my breathing issues (which were admittedly very mild when I saw him in the first week of February and frankly I wasn’t very concerned either) but he did order pulmonary function testing, a cardio-thoracic ultrasound and a follow-up appointment a month down the road.   The ultrasound came back normal.  However, to my surprise, the pulmonary function test did not come back normal.  My lung function, along some dimensions, was 45% of what was predicted for someone my age.  And this test was administered on a day I felt asymptomatic….  Some of my lung function improved after taking an Albuterol inhaler, but the results were still not normal.  These findings indicated obstructive lung disease, which would be consistent with asthma, COPD, bronchitis…or a tumor.  I have had asthma since birth and my breathing problems didn’t “feel” like asthma, but both my GP and the Wizard thought this was the more likely cause of my symptoms.   My GP also pointed out that this could be one reason I felt so exhausted all of the time.

Since completing the pulmonary function tests, my breathing has become much worse and I have started coughing quite a bit.  It feels like there is a something irritating my bronchial tube.  And the coughing, in turn, makes me wheeze.  If I sit still, I am fine.  While I sleep, I am fine (which for me is unusual for asthma – generally asthma would wake me up in the middle of the night).  But if I talk or move around, I start coughing and then wheezing.  Some blood pressure medications can cause coughing and I started a new one a few weeks back that lists coughing as a potential side effect.   I checked in with my cardiologist and he agreed we should stop this medication and try another one, which I have done.  But I still have the cough.

The breathing trouble has affected my mood a lot.  I was already in a lot of pain at night from whatever is happening to my bones.  I have been extremely fatigued for months, so fatigued that I still really only leave the house for doctor appointments for the most part.  But at least I could have a conversation or putter around the house a bit.  The coughing really messed with what little freedom I had left.  I have been feeling like I am living in a tiny box for months and the coughing made the box so much smaller.  I was in a little box with when I had Cushing’s too, but somehow it was easier then because my brain was fried as well.  I couldn’t do anything with Cushing’s but it was more bearable because I was in a daze – I had such bad brain fog that I didn’t want to do anything.  Now, that I am alert and my brain is working again, I want to do things but I can’t.  And most days that really sucks.

The other torture in all this is that I keep going back and forth in my mind between “why are you making a big deal of this?  It probably IS asthma” and “you know this isn’t asthma, it doesn’t feel anything like asthma.  You aren’t waking up at night wheezing and the feeling in your chest and your cough is nothing like anything you ever had because of asthma in the past.  It’s a tumor! I know it!”  The mental anguish I am feeling has been tough to deal with.  Either I am worried over nothing or there is a tumor growing in my chest and I am ignoring it.  I want to believe it is just asthma, but why would I be getting a flare-up now? And what about the Octreoscan?  Neuroendocrine tumors in the bronchial tubes or thymus can causing coughing and wheezing too!  On the other hand, I AM asthmatic, it has been a really cold winter, who says asthma always affects one person the same way every time you have a flare-up? Or maybe I have turned into a huge hypochondriac?  But the pulmonary function tests DID indicate there is a problem and on a day you felt really good!  And the internal chatter goes on and on.

I am seeing the pulmonologist later today and I hope he will help calm the chatter one way or the other by running a few more tests.   I am not confident that will happen at this juncture and I am worried about getting my hopes up but that is where I am at.

Plan A: The NIH

By November 2014, I had gathered ample evidence to suspect the genetic mutation called multiple endocrine neoplasia, type 1 (MEN-1) could be behind my medical problems over the past two years, so I began to devise a plan to rule it in or out definitively.   You can get diagnosed with MEN-1 in one of two ways:  a positive genetic test for MEN-1 or confirmed tumors in two of the three “P’s” – pituitary gland, pancreas and parathyroid glands.  I already had pituitary tumors removed this year and had some evidence that I might have parathyroid tumors, but I didn’t have strong evidence so I knew this was going to be an uphill battle.  Just like with Cushing’s, I had “mild” elevations in my labs and my parathyroid and calcium levels were fluctuating, so it was going to take time and doctors that understood the subtleties of this disease to figure this out clinically.  I had already started to look into the genetic tests, but without a doctor referral it cost thousands of dollars to get the genetic test.  Furthermore, since the test only picks up known mutations, roughly 40 percent of patients with MEN-1 that don’t have a family history of the disease (like me) end up with a negative genetic test.   So, my initial plan was to keep testing my PTH and calcium as long as the Wizard was willing and to bite the bullet and make an appointment with a private lab to at least explore the option of getting the genetic test.

Then, a patient group alerted me to the possibility of killing both birds with one stone at the National Institute of Health (NIH).  The NIH had an open research study on Hyperparathyroidism and if I was able to get into this study, they would give me a work-up for MEN-1 at the same time, including the genetic test!  I couldn’t believe my eyes when I saw the study.  I immediately contacted the lead researcher and gave him a brief rundown of my situation.  After exchanging a few emails and information on my labs and operative and pathology reports from my pituitary surgery, he told me that because I had Cushing’s and “very borderline hypercalcemia” they would admit me to the study.  Over Thanksgiving weekend, I found out I was in and that I was scheduled to be an inpatient at the NIH for five days in January.  That same weekend I got engaged to the most wonderful, supportive man I have ever met.  I was over the moon.  It was the happiest I remember being in a long time.  I felt like I was going to get my life back and finally get to start a real life as a healthy woman with M too.

I decided I would keep testing my calcium and PTH up until I went to the NIH to keep bolstering my case.  For someone my age, serum calcium levels in the 10s are abnormal and together with PTH levels that are normal or elevated in the presence of high calcium are evidence of parathyroid tumors.  Just like with Cushing’s, demonstrating these hormones were both inappropriately high on numerous occasions was necessary to get diagnosed with hyperparathyroidism (HPTH) and to get cleared for surgery.   So, I continued to test in December.   The month of December and the early part of January seemed to drag on as I was feeling very sick throughout this time.   In addition to increasing pain in my lower back, my digestive issues were getting worse and worse.  It was pretty clear I was not digesting most of my food – much of what I ate was leaving my system looking the same as when it went in.  And I had constant pain in the rough location of my gallbladder.  On several occasions, the pain would get so bad that for stretches of 4-5 days I had to take shallow breaths and I just couldn’t get comfortable because of the pain.  My GP ordered an ultrasound at one point and besides some evidence of an inflamed common bile duct, we didn’t see anything.  But it was clear that whatever GI issues I was having, they were getting worse.  HPTH can cause gall stones and pancreatitis, so my best guess was it was all related.  But since I didn’t have a diagnosis in hand, it was only a guess.

And then right before I went into the NIH, likely as a result of the malabsorption problems that flared up during December, my calcium dropped back into the 9s.  And when I went to the NIH and had my calcium tested, it was in the 9s for the first test and dropped into the 8s for the second.   How could this happen to me now, after months of high test results?  And despite the fact that there were good reasons my calcium dropped and despite months of “borderline” high calcium levels preceding these tests, the doctors overseeing the study decided I did not have HPTH.  I was heartbroken.  I know this might sound perverse to a healthy person, who might be asking why anyone in their right mind would hope they had a tumor (or even worse, a genetic mutation that was going to cause you to get tumors over and over).  But I am not a healthy person. I am a person that has been sick going on three years now.  And I just want an answer, a name, a plan to deal with whatever was wrong.  I didn’t even care what “it” was anymore.

I knew enough from my experiences with Cushing’s last year to realize that the NIH might be wrong.  That two negative test results didn’t mean much given the trend of positive test results I already had.  That it made sense for my calcium to drop if none of the calcium I was eating was actually entering my bloodstream because I couldn’t absorb nutrients.  So I knew that I was going to have to try and figure out how to help my GI system heal a little and retest when I got home.   And thankfully, the NIH did go through with the rest of the MEN-1 testing, even though they believed the odds I had MEN-1 were very low at this point.  So, I had the genetic test – I was told it would take between 3 and 6 months to get the results back for that.  And I also had a battery of labs and imaging done – tests of pancreatic hormones, pituitary hormones, CT scans, MRIs and an Octreoscan.

Some of the lab results were unusual.  The first is a pituitary hormone called TSH.  TSH stimulates the thyroid gland to make T4 which is converted to T3 and stimulates the metabolism.   TSH, T3 and T4 work in a feedback loop much like Ca and PTH do (or cortisol and ACTH).  If T3 and T4 are low, the pituitary gland pumps out TSH.  If T3 and T4 are high, TSH production is decreased.  Interestingly, my TSH levels were almost undetectable, despite the fact that my T3 and T4 were not high.  The NIH got very excited about this, going so far as to say I had “endocrinologist-induced hyperthyroidism” but this didn’t make any sense to me.  This should only be true if my T3 and T4 were too high and they were on the low side of normal – which meant my TSH should have been high, not low.  Looking back over my old thyroid labs, it was clear my TSH had been suppressed for over a year.  So this was odd, but it didn’t seem consistent with hyperthryoidism (too much T3 and T4) at all.

The other odd finding that everyone dismissed was a really low gastrin reading.  Gastrin is a hormone that stimulates the release of gastric acid, which helps break down food in the stomach.  The reference range for Gastrin is <100.  My reading was <10.  And this test result fit my symptoms – I was not digesting my food!  I asked repeatedly about whether this result was normal, especially given my symptoms and I kept getting the same answer:  we only care if gastrin is too high, not too low.  There are other neuroendocrine tumors called gastrinomas, which produce too much gastrin and cause stomach ulcers, hence this answer.  But given my symptoms, I was sure this was a clue and I was disappointed no one but me wanted to investigate further.

During my googling in the months preceding my trip to the NIH, I encountered several times a discussion of another neuroendocrine tumor called a somatostatinoma.  As the name suggests, the tumor produces excess amounts of the hormone somatostatin.  Somatostatin serves as a master hormonal brake of sorts:  it’s job is to inhibit several other hormones, including gastrin.  One of the main signs of a somatostatinoma is abdominal pain and undigested food/malabsorption.  In fact, it was the only neuroendocrine tumor that caused patients to have signs of undigested food – and this is because too much somatostatin suppresses lots of pancreatic hormones including gastrin, glucagon, insulin and others.  It also inhibits several pituitary hormones, including growth hormone…and TSH.  So, when I saw the low gastrin, I asked – three times at the NIH – if the low gastrin could be caused by excess somatostatin.  All three times, I could see a little light go off in the heads of the fellows I was talking to (I only saw the attending once after my initial admission).  But no one ever agreed to actually test my somatostatin.  In their defense, somatostatinomas are VERY rare.  Roughly 1 in 40 million people a year are diagnosed with somatostatinomas.  But it did seem to fit.  I just filed this thought for later.

The other unusual finding that popped up while I was at the NIH came from the Octreoscan.  Octreoscans are special scans designed to find neuroendocrine tumors (NETs).  Many NETs have somatostatin receptors on their surfaces and the Octreoscan exploits this fact to find the tumors.  Patients are injected with Octreotide (which is very similar to somatostatin) which is bound to radioactive material.  The Octreotide subsequently binds to the receptors on the tumors and the radioactive material can then be spotted on a special scanner.

No one was more surprised than the doctors at the NIH that the Octreoscan indicated there was something suspicious for a neuroendocrine tumor in my mediastinum (chest), as up until this point they couldn’t find anything wrong with me.   Unfortunately, a clear tumor was not picked up on the CT and MRIs – there was some debate over whether an odd looking thing in my chest that did show up was residual thymus or if it could be a tumor, but there was no smoking gun.  So, even though we found something, there was still a chance it could be incidental (despite my symptoms, etc. etc.).  As part of MEN-1, patients can get NETs called thymic carcinoids, which was a possibility.  Carcinoids can also produce hormones and can sometimes cause digestive problems, wheezing and “flushing”  (getting a hot, red face and chest) and sometimes show up in labs.  But thymic carcinoids, of course, are less likely to be symptomatic and less likely to be diagnosed by lab work.  I did have flushing and some mild breathing trouble too and the NIH did conduct a round of labs to test for carcinoids, but the tests all came back negative.  At the end of the day, they determined I should get another CT scan in 2-3 months to see whether anything in the region of my thymus changed.  So more watching and waiting – but at least a clue that this might be the source of at least some of my problems.

So, I came home from the NIH in mid-January with no answers but quite a few more questions and at least a few clues that I would try and chase down at home as part of Plan B.