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Tim D (TimD), Undiagnosed Bio

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I’m going to tested and pretty sure i have it.

I don’t know what to put here except I was am glad I finally getting tested since reading stuff on the net I see I have a lot of the side effects and it sorta clears things up some,

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Julie, Undiagnosed BIo

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undiagnosed6

 

First test came back high coritsol. Testing again in six weeks. Weight gain, edema, high blood pressure and other symptoms.

Any advice would be helpful.

Trying not to stress it but want to get this behind me.

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Al (flyguy), Undiagnosed Bio

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undiagnosed2

 

i have had every test to upset to list right now.

 

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Traci’s Daughter, Undiagnosed Bio

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My 11 year old is currently at NIH, undergoing 2 weeks of diagnostic tests.

Her main symptoms have been stunted growth and weight gain. She doesn’t have some of the other classic symptoms.

She undergoes the IPSS tomorrow, so hopefully we’ll know more then.

 

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Catherine B, Pituitary Bio

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I’ve had random symptoms off and on for years (almost two decades now, from about the age of 15) but didn’t realize they were related to illness, or that I had one overarching disease causing them all.

Looking back, the onset of my disease was in my teen years.  I gained more than 60lbs in roughly a year’s time without changing diet or activity level.  I developed stretch marks that ran from my knees to my elbows (and everywhere in between!).  I started losing my once-thick hair.  I developed horrible acne.  I went from being an early morning riser to staying up late at night because I was wide awake, and waking often throughout the night.  I went from being happy overall to being anxious and depressed for no apparently reason (and medication had no effect on either).  I was told it was either all in my head or all my fault (by varying people, some directly, some implied) and I internalized that and just assumed I was too lazy and had bad genetics…  I TRIED to exercise but would feel so sick afterwards that I couldn’t make any gains, I joined a gym and put myself on a diet in high school but none of it made any difference.  When I brought up my symptoms to doctors, they could never put it together, often blamed me for them (Just diet and exercise and it’ll go away), and sometimes treated me like I was just plain crazy.  I still don’t go to doctors unless I have to because of those experiences.

After getting married, I had had some complicated pregnancies…but it was more than that.  I would get flank pain and drop into “lows” that I didn’t understand, complete with feeling cold, diarrhea, weakness, exhaustion, nausea, loss of appetite, and extreme weight loss (muscle loss, more like it).  I had high cardiac output but low blood pressure and a high pulse rate.  I’d go into tachycardia (140 bpm +) for NO apparent reason and had all kinds of cardiac monitoring done.  My blood pressure was labile, but usually low, and still I’d end up with severe complications. Breastfeeding wasn’t going well despite the “mechanics” and flow being there…my babies were never satisfied and I always felt sickly.  The differences were drastic (but a bit graphic to share here publicly).  I seemed to get pregnant at the drop of a hat (opposite of the norm for Cushie women), but my body seemed unable to deliver on it’s own.  My body just didn’t react like it should to anything.  I even once had an episode post-partum that now I know was likely some mixture of adrenal insufficiency and/or my hypoaldosteronism.  I was left alone to sleep it off (just thinking about it now scares me), but I didn’t know any better at the time.

Then about 3-4 years ago I hit this point where I just had the feeling that if I didn’t get whatever was going on under control, I’d end up with something more permanent and dangerous (like cancer or diabetes).  I still got seemingly random symptoms but I had too many of them, and they were getting worse.  I also started to notice that my good days and bad days seemed to come in cycles.  3 days, 3 weeks…I’d be good for a while, then worse for a while, then good for a while.  I had already eaten “clean” and kept myself active, so I decided to try “nutritional balancing therapy” and started taking a karate class multiple times a week (burns TONS of calories, fyi).  They ran some tests for various vitamins/minerals, and said I had adrenal insufficiency.  The diet I was put on was a higher fat (good fat), higher protein, TONS of veggies diet (basically we just cut out my grains/starches and added in more fat) but between the diet and the exercise, I became so ill I couldn’t get off the couch for about 4 weeks.  I had to give up both and it took some time to recover, but I never got back to where I had been, not even close.

I started studying the natural healing term “adrenal fatigue” and came to the realization that I had done everything to correct AF but was still going downhill.  I had tried supplements, diet (years of it), everything.  I became pregnant unexpectedly and was active, even tap-dancing with a major part in a musical at 20 weeks pregnant.  I would have these ups and downs that seemed random, but when I finished the musical, I hit a new low and never seemed to come back from it.  I just became more and more exhausted.  To the point that certain days I could *feel* the energy it took to hold my head up to watch a movie with my kids.  The CNM and OB both said I was just depressed and upped my dose of Vitamin D.  They wanted me to go on antidepressants, and I refused.  I knew the difference between not wanting to do things and not being able to do them. I called a doctor that specialized in Adrenal Fatigue in California after having read through his website, and he basically said that I would continue to get worse, but that he wouldn’t treat me because of my pregnancy.  No help, no suggestions, he told me “come see me if you make it out alive.”  I obviously needed outside help from a true expert.

I had joined an Addison’s support group online about this time, and they helped me learn a lot about AI and Addison’s, about symptoms, testing, about Hashimoto’s, etc.  I am SO grateful to these women who supported me and taught me much.  They never questioned if I was just depressed or if I was really sick, and they were so kind they WERE the sanity that I needed so desperately.  I was getting nowhere with local doctors, my husband believed me and was as helpful as he could be, but it was taking a big toll on us, and when we asked for help from our local church leaders with cleaning our home because I no longer could do it (and my husband was so overwhelmed doing everything by himself), we were threatened as a family and refused help.   I was desperate; I was hurting.  My whole family was struggling because of this disease and the treatment (and lack thereof) we’d received from doctors and so-called friends.

These Addisonians had been talking a lot about one specific endocrinologist that specializes in pituitary disorders (who also happens to be in California).  In complete desperation, I emailed him, knowing the chances that he’d take me or that I could even get in to see him before delivery (due to travel restriction based on gestation) was unlikely.  But I was scared of what a delivery with untreated Addison’s might bring (I knew the stats and knew I didn’t trust the local OB), so I emailed explaining my situation and sent my current lab work (I had to go to my GP because my OB wouldn’t even test my thyroid or iron!).  I knew it sometimes took weeks to get a response or get in to see this doctor 3 states away, but I sent the email on February 8th, and heard back via email that same night from his office lady.  She was sure he could help me, and suggested I schedule an appointment right away, and was waiting to hear back from him directly.  He responded that he did see something amiss in my lab work, and I was scheduled for an appointment and buying plane tickets.  My appointment was on Valentine’s evening and a friend flew with me because I was too weak to do it alone, and because my brain was too foggy to feel comfortable understanding and responding to everything in the appointment, not to mention I was super pregnant with my 6th child!

I went in SURE I had Addison’s Disease, or at least a form of adrenal insufficiency, and even tried to argue that fact.  I came out with a LOT of testing for Cushing’s Disease.  It was, in fact, the low cortisol periods that I was noticing, but it was being caused by periods of high cortisol.  You see, the cortisol takes a big toll on your body and overrides the normal feedback system of your pituitary and adrenal glands.  While the tumor is actively pumping out ACTH, it can shut down your own pituitary’s normal production because the pituitary feedback says there is already too much cortisol in your system.  Then, if/when the tumor “kicks off” (who knows why they do this), your pituitary is in a lazy state from not having been working and it can take a while for it to kick back in.  This can bring life-threatening lows, but generally it just brings low-cortisol symptoms which are still uncomfortable.

I was unprepared for the change in direction at my appointment.  I had the right system and hormones, but I was looking at it backwards, and the more I learned about cyclic Cushing’s Disease, the more sense it made, the more things clicked together, and the more I understood about my past and present symptoms.  I have cyclic Cushing’s Disease.  I had read up a little on this about 10 years prior, when my mother-in-law had died from untreated Cushing’s (she refused treatment and was a stubborn, intelligent women who got her way).  I had read through some information with my husband at that time.  We had concluded that it was a possibility, but I didn’t have enough of the symptoms (maybe half?) and decided that I wasn’t nearly sick enough for that to be the problem.  How wrong we were!  I certainly wasn’t as bad as many, but I found that the downhill turns were often sudden and drastic, especially in the more recent years.

At my appointment I was also told I had hypothyroidism.  He ordered more of those tests (to get a trend) and an antibody test.  It was found I have Hashimoto’s Thyroiditis (an autoimmune thyroid disease) and was put on thyroid medication.  My ferritin level (stored iron) was so low it was in single digits (he wants it around 60) and he said that had I not been flying home the next morning, he’d have had me in the hospital for IV iron infusions.  Needless to say, I was put on iron –lots of it.  My vitamin D was still lower than he’d like despite having been on treatment, so he switched me to 50K iu’s of D3 weekly (My OB had chastised me repeatedly for taking D3 instead of D2; Ha ha!).

I had to wait for a while after my pregnancy to allow my body to normalize before doing my Cushing’s testing.  I first tested by date (randomly, basically) and got a few marginal highs, but mostly normal test results.  My pituitary MRI was read clean.  Dr. F told me he didn’t know what was wrong, but that it didn’t look like it was Cushing’s because of the testing.  I was not prepared for that, and just ended the conversation in an emotional mess.  I was emotionally, mentally, and physically exhausted and didn’t plead my case.  I didn’t have insurance or the money to test more, even though I was pretty sure I needed it.  And looking back, had I asked, he probably would have obliged.

I decided to again try natural healing methods.  Nothing worked, and some things (extended juice fasting, for instance) actually made me much worse.  Every time I hit another “low”, it seemed to become my new normal…and that was scary.  I kept losing more energy and strength, more of my mental ability, and each time I couldn’t imagine it getting worse, yet it always did.  (I still haven’t learned this lesson!)

About a year later, after a lot of prayer and thinking, after I’d exhausted most natural treatment methodologies I felt willing to try, I realized I did indeed need to go back and push for further testing, and test by symptoms.  Mentally and emotionally I was in a much better place, and while I had recovered a bit after my delivery, I had started to again slide downhill despite my best efforts.  I came up with a game plan, and the hope of it made the effort required seem possible.

I emailed Dr. F to ask about further testing, this time by symptoms, and there was no pushing or arguing necessary!  He gave me more sensitive testing this go round, and told me to test as much as it took.  He believed me!  It was as if the way just opened up for me this time.  I was uninsured, but I applied for the Cushing’s Assistance program through NORD (The National Organization for Rare Disorders) and was accepted.  They offered to cover the costs of testing, doctor’s appointments, and travel needed for the same, that would lead to a diagnosis of Cushing’s Disease.  I was in public when my husband called and read me the letter, and I started bawling right then and there in the shopping isle.  It was an answer to a prayer I didn’t even think to voice.  I then called to share the news with family and friends and bawled again, scaring yet more customers!  Having no insurance, this made everything possible.

Tracking my symptoms wasn’t a very easy task.  I went totally OCD on them, and still I was only somewhat successful in my efforts. I could get the overall trend, but the day-to-day was confusing as all-get-out.  My testing was also complicated by living in Alaska.  I could only turn in tests 4 days a week because they had to fly out to the labs in Seattle, WA and beyond.  It took about a month to get each result back.  Add to that a head cold that killed my cortisol levels for 6 weeks, and it took me a few months to get sufficient high labs even with my 2-page-wide spreadsheet of symptom data.

In that time, I also made friends on the Cushing’s-Help website and Facebook groups.  I learned a LOT of things from them, and one friend in particular likes to “read” pituitary MRI’s the way I like to “read” fetal ultrasounds.  She looked at my previously “clean” MRI and said that in her lay opinion, it was anything BUT normal.  As a favor, her neuro-radiologist also took a look at my MRI, and was so kind as to send back pictures with ARROWS of pituitary adenoma’s and suspicious areas on my MRI to forward on to my endocrinologist.  As it turns out, my doctor hadn’t read the disc himself and had just read the radiologist’s report.  He looked at the disc and agreed it was not normal, then sent me a message stating I needed a new MRI (it had been over a year at this point and my previous MRI still had some of that post-partum “rainbow” shape to the pituitary) and that it should be read by a neurosurgeon this time around.  JOY OF JOYS!  This brought me even more hope!  He said SURGEON, not just himself…that meant I was getting so close to that diagnosis and surgery clearance –to getting help.

I scheduled my MRI trip (can’t do a 3T dynamic here), and decided to schedule a face-to-face with my endocrinologist again while in the same city.  NORD paid for the flights, reimbursed me for the cost of my doctor’s appointment, paid for the MRI, and paid for my hotel room.  My husband came with me this time, and it was the best doctor’s appointment I’ve had in my life.  I was still nervous that somehow it wasn’t enough, or that the MRI done the day before my appointment would miraculously have become normal again.  That was not the case.  My MRI showed two possible adenomas on opposite sides of my pituitary amongst other things, and my 7+ diagnostic-level high labs were sufficient…and it felt AMAZING!

Who knew we’d be so excited to hear I was diagnosed with a deadly disease?  That we’d shout for joy and clap our hands at finding multiple tumors in my head?  I had a smile that wouldn’t go away.  The medical student shadowing my endocrinologist hadn’t seen the diagnosis side, where patients are so relieved to have an end in sight, to finally be getting help and have a chance at getting better, that they are happy!  I also wore my “Does my pituitary gland make me look fat?” shirt to this appointment, so we were joking, taking pictures, and having a grand old time.  He gave me permission to share the picture of us, and without prompting pointed to my head for the next picture saying, “It’s right HERE!”  My endocrinologist is generally stoic, quiet, caring yet professional, dealing with very ill people with a very serious disease and he is often their last hope at life…so I feel myself privileged to have had the opportunity to see him in-person for my diagnosis appointment, and to see this other side of him.  I hope he felt our gratitude as well.

The “pick whose going to cut into your head” decision took a while.  I was offered 100% coverage through a quality hospital and with a quality neurosurgeon for anything done at their facility, but the endocrinologist there wanted me to start my testing process ALL over again with them, at my cost at home.  I was not willing to start over after all that hard work and with as quickly as I was deteriorating, so I decided to wait till January when the new health coverage laws were in effect and I could again get insurance without preexisting conditions clauses.  I was able to be referred to my first-choice of neurosurgeon’s and placed on Ketoconazole to help lower my cortisol while I waited.

I had pituitary surgery on February 5,2014 (I am writing this 4 months post-op).  They were able to find and remove the more obvious of tumors on my MRI, and explored the rest of my gland, finding no more tumor tissue.  My pathology report came back as “hyperplasia”, meaning I had a bunch of individual scattered cells that were a tad overgrown instead of a solid, encapsulated tumor.  This kind of tumor has a very low success rate, since the entire gland can be diseased, but it can be impossible to see and remove every one of the scattered cells.  We knew early on that it didn’t look like remission based on my symptoms and post-operative lab results.  I was off my replacement hormones within a month, had to wait for my cycles to normalize a bit (I guess all that pituitary fileting was noticed by my pituitary even if I wasn’t cured! lol) and then I could begin retesting for re-diagnosis.

In April I had a post-op MRI and follow-up with my neurosurgeon, who said I did not have a visible target on MRI, and with pathology report of “hyperplasia,” I am not a candidate for repeat pituitary surgery or radiation therapy.  We now know that a bilateral adrenalectomy (BLA, the surgical removal of both adrenal glands) is in my near future…but I need a multitude of lab tests to prove I need it, and give a surgeon enough reasoning to permanently remove two very vital little organs and put me on life-sustaining medication instead.  It is a drastic surgery for a drastic disease, but it is my best chance at a lasting cure with the least amount of hormone replacement and further damage to my other organs.

During this same trip, I was able to attend the Magic Foundation’s adult convention just a few hours from my follow-up appointment.  What an amazing event.  I learned many things, but perhaps more important to me, I was able to meet other people who had my disease, who understood what I was going through, had been there themselves, etc.  They just knew!  I felt at home.  I consider it quite telling that they switched the schedule of the conference to part-days to accommodate our fatigue…  The trip was hard on me, but I am SO glad that I went.

In May I started testing in earnest for my re-diagnosis.  After intensive testing one week, and hit/miss testing the next (I was cycling lower and thus stopped testing), I now have 5 diagnostic-level high lab results.  Because of the severity and permanency of this next surgery, my endocrinologist has asked me to continue testing.  I will start testing again during my next high cortisol cycle in the hopes of doubling the number of diagnostic-level highs that I have and move on to the surgeon referral process.  It’ll take a couple of weeks to get my lab results back (Oh, the agony!), and another couple of weeks to get my endocrinologist appointment and surgical referral if I do indeed have sufficient highs.  I’m *really* hoping he won’t want me to go on medication prior to surgery as I’d like to move forward towards a permanent cure and health!  Not to mention, my deductible is met for the year, so this year would REALLY be nice on my already broken budget.

With the new goal in sight, and some diagnostic testing that proves I’m still ill, we are hopeful.   I’m now nearly bedridden due to the physical exhaustion, but I’m starting to allow myself to plan for a near-future in which I am somewhat functional and active again.  I can’t wait!  Once again, it sounds silly to be so excited and wishful about having surgery to give me Addison’s disease, just as it was to be thrilled to be told I had a tumor, dreaded disease, and needed brain surgery.  But, I’ve been sick for so long and becoming more and more debilitated and sick the longer this has gone on that I am excited at the prospect of any semblance of improvement, health and normalcy!  (Okay, within reason…I am well educated and using logic, etc on this, but…YAY!)  I can feel it is within my reach again.  I’m on the path and moving forward.

———————————————————————

Here is Magic’s video of me: 

And the picture I spoke of in my story is attached (Dr. Friedman did give me verbal permission in-person to share it online –facebook, etc.  I imagine he’d be fine with it published in an email?)

I will include a before/after onset collage of pictures as well.  Use whatever you like.

Catherine blogs at http://muskegfarm.blogspot.com

catherine2

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Donna (Dutchie), Pituitary Bio

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Hi.  I’m a patient of Dr. F and a member of the Cushing’s  Help and Support FB community.

I have a pituitary microadenoma and am still doing all kinds of testing to see if it is active.  I’ve gotten two clinically high indicative Cushing’s test results so far–midnight serum cortisol of 14 and 24 hour uring 17OHS of 11.5.

We are still testing.

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Laree (Laree), Pituitary Bio

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My Thanksgiving Day was less stressful this year than I thought it might be, because I had my head examined the day before at Johns Hopkins at about 9:30 in the morning.  By 1:30 in the afternoon, my endocrinologist there, a metabolic bone specialist, had emailed me that I was the proud parent of a 0.7mm lesion on the right side of my pituitary gland.  All day Tuesday I had performance anxiety because I feared that after six months of testing every liquid my body could produce for excessive cortisol, I had finally been given the green light to undergo the Holy Grail of tests and have a look-see at the Master Gland.  I feared that I wouldn’t be able to come up with the goods, but I managed to produce, and now I’m being referred to a neurosurgeon.

It’s been a very long process, even though the testing has only been a six month part of it.  In 2001, I broke  my collar bone while playing tennis.  Granted, I fell down, but it’s not like I made a Boris Becker leap for the ball or anything.  Then in 2003, my first stress fracture, followed by another one in 2005.  Then a crushed wrist on another tennis court mishap–my feet got tangled up when I was moving backward, and within a week, I was having my wrist rebuilt with a titanium plate and several screws.  Then there was  the broken tailbone, followed by the upper arm compression fracture suffered while pushing a small car off an ice shelf in Ohio.  And finally the L4 vertebra that I broke loosening the lug nuts on a tire I was changing with my still-healing broken arm.

After each incident, I would ask the doctors what could be causing all these weird bone breaks, and sometimes they would send me off for a dexascan to see if I might have osteoporosis, but the test always said no, and the doctors were always orthopedists of one sort or another.  They would shrug and say that these things happen.  After the upper arm (this past January), and the subsequent dexascan, the ortho told me that the test said I didn’t have osteoporosis, that if I wanted to try to learn more about the bone formation, I should see an endocrinologist, but he didn’t know of one to whom he could refer me.  He did refer me to his colleague to have my osteoarthritic hip replaced.  I’m 53, by the way.  He told me that going to an endocrinologist was likely to yield nothing, and he opined that I was suffering from “Laree Martin syndrome,” if I need for it to have a name.

My gynocologist, who works in the same hospital center as Ortho 1, we now lovingly refer to him as Frick, referred me to an endocrinologist who also practices in the same hospital center.   I got myself hooked up with her, and she very quickly determined that since I had broken not one, but all of the bones that are considered to be typical indicators of osteoporosis, despite multiple dexascans to the contrary, I had osteoporosis.  Shortly thereafter, she discovered excess, but “unimpressive,” levels of cortisol in my system.

Ortho 2, we’ll call him Frack, saw me prior to my hip replacement, and I complained about my back injury the week prior.  He pronounced that I had not broken my vertebra, but he offered to send me for an MRI, if that would make me feel better.  I scheduled the MRI, had it in the evening, called his office in the morning to report that I had gone for the test, as he had asked me to do, and instead of leaving a message, I got put directly through to the doctor.  Turns out that he was wrong, and it is possible to break your L4 vertebra pulling on a lug wrench with a still-healing compressions fracture in your upper arm . . .  if you have osteoporosis.  When I told him that he didn’t have to worry about my bones in general, because I was seeing an endocrinologist for that.  I just needed him to be extra careful not to break anything when implanting the new hip.  I told him that the endo specialist was working me up for Cushing’s, and he told me that I certainly did not have Cushing’s, because I wasn’t 100 pounds overweight and diabetic.

By September, the endo doc concluded that my results were equivocal for Cushing’s, but she encouraged me to go to Johns Hopkins to the metabolic bone specialist, since there wasn’t another good explanation for my osteoporosis, which had by that time been objectively diagnosed with a bone biopsy.  She felt that she had no choice, clinically, but to treat my osteoporosis as post-menopausal in origin, even though my bone breaks began 8 years ahead of my menopausal symptoms.  Off to Johns Hopkins.

The bone specialist took the history, again . . . did some more testing (blood, saliva, urine, again . . . ) and then consulted with the adrenal team, who agreed with her diagnosis of ACTH-dependent Cushing’s disease.  Unfortunately for all of you who read these bios, it’s more complicated than just Cushing’s, because I had bilateral pulmonary emboili and a DVT in my leg when one of my stress fractures had me on non-weightbearing restrictions for six weeks.  That little incident was also considered a fluke, until about six years later when I was diagnosed with an autoimmune condition that is also considered to be “rare.”  It is a mouthful to say–antiphospholipid antibody syndrome (APS).  It’s main risk is hypercoagulability, and its treatment involves lifelong warfarin (brand name Coumadin), which people mostly call a “blood thinner,” although it doesn’t really act that way.

I feel somehow more than lucky to have two fairly uncommon, fairly complicated conditions with fairly scarey treatment options.  I feel like I need a Fairy Goddoctor to be able to properly manage my surgery and treatment, because of the risks associated with drug interactions with the warfarin, the higher risk of clotting that I already have from the APS, which is apparently compounded by Cushing’s, and my understanding that I’m not supposed to be mixing hormones, including steroids, with the warfarin.  Nevertheless, it was good to know so quickly after the MRI that the result was that I flunked that test as well as I had flunked all the others previously.  I thought I was going to have to stress over that for the entire long weekend, but no.  Instead, I pretty much put it out of my mind until tonight, and now you’re getting the Reader’s Digest version of the last 12 years of my medical experience.

The doctors have exhausted my resilience with all of their certainty, which over the years I relied upon to conclude that I was just clumsy and that my weight struggles with those extra 25 pounds that could pack on in a couple of months, especially when I was recuperating from a fracture, without really changing my diet much, were probably associated with my inconsistent sleep and the fact that I will reach for pizza when I am feeling particularly low.  So when I read here and there about the recovery process after surgery and how difficullt and complicated it can be, I have to admit that my first reaction was that I should quit work, take a year off, spend all my money on travel or whatever I would feel like doing, and then just commit suicide and be done with the whole thing.  And that still has a sense of comfort associated with it when I remind myself of what I’m in for for the next maybe couple of years or more in recovery . . . and possible relapse . . .

But I have a 82 year old mother, and I”m her baby, and I witnessed her sorrow when my brother was killed in a motorcycle accident about 18 months ago, and I wouldn’t put her through that again.  Instead, it’s my intention to take as much time off work as possible after surgery to let myself gather my emotional resources and get over the angry, bruised feeling that I have from both diagnostic processes that have lasted over a decade.  I appreciate that this space is here for newbies like myself to say out loud what most of my friends and family either can’t or don’t want to hear.  It doesn’t really matter so much that anyone is listening; I just need to say it.

Cheers!

Laree (who actually has Cushing’s disease, not Laree Martin’s syndrome)

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