Cushing's disease diagnosis

Today is May 1, 2013....on this date in 2011 I was diagnosed with Cushing's Disease.  Today am I six-months post BLA.  If you told me then this is where I'd be today, I would not have have believed it.

Sadly, though, it is to look back on the past two years and remember the struggles and heartache of searching for diagnosis, treatment, waiting to see if the surgery was successful.  It feels like lost years. 

Thankful, I must be that though living with Cushing's for about 5 years, including the years undiganosed....I am considered one to be 'fast' tracked among the many others in the Cushing's community who live with the disease untreated for as long as 10 years, some even more.  What is wrong in this day and age, that doctors do not listen and trust their patients who tell them their health has changed.  Shameful.   And so Cushie's search out the few doctors who believe the patient's account of their health.  We travel far distances for diagnosis and surgery. 

Two years ago, I awaited the phone call from my doctor on the other side of the country, telling me that my lab data was conclusive and I could pick out my surgeon.  He had a list of 4 that he recommended.  In all the great states of America...there were 4 to choose from.

Surgery is not an immediate relief for Cushing's.  Successful surgery brings cortisol withdrawal which is a long process of weaning the body back to normal levels of steroid.  I am close to that maintenance dose now, not quite there but close.  Weaning takes about 3 weeks and is dreadful. It's hard to fit that into a family's schedule.  And the more I become a Cushing's survivor and no longer Cushing's patient, it becomes even harder mentally to gear of for 3 weeks of feeling rotten.

I'm still balancing my hormones too...ones that I would have never even known I had!  Replacements for aldosterone, and growth hormone are tricky!  Yes, adults need growth hormone too!  It's how our bodies regenerate, heal, build muscle, get good sleep, and balances the body composition of fat and muscle.  I just began replacing this hormone this past Sunday, it will be up to a year before I see the full benefits of doing so.

If you are reading this and think you have Cushing's...do not give up!  I was told by 3 doctors that Cushing's was unlikely.  And here today, two years after that same diagnosis I am healing and recovery and reclaiming my life!  Thank you Jesus!

Upon returning home I started my labs like it was my full-time job!  My local hospital was very cooperative in helping me set-up the midnight lab draw.  I would coordinate with the day-shift on which days I was coming and then simply show up to the ER who would call the lab for me.  The only downside to this was I was to test when I felt ‘high’ and I fluctuated so much that mid-afternoon I had no way of predicting what I would feel at midnight.  So I decided to take the ‘marathon testing’ approach and just test..test...test.  I did 17 midnights, one was lost by the big lab who processed it,  2 were in the diagnostic range, one in the suggestive range, and the remaining 13 were levels too low to confirm Cushings.  There was no pattern, rhyme or reason.  I was ever so thankful to finally have a doctor that would recognize the abnormals for what they said, not dismiss them because of the many normals intermingled. 

I tried salivas again with only normal results.  Ironically, on the same days I did those salivas I also did urine collections and they were sky high!  Even the gold-standard 24 hr collections were almost 3 times the normal limit.  I was getting highs in both the 24 hrs and the specialized overnight collection test. 

I asked my PCP to please request a copy of my MRI report.  Imagine my shock when I found out that only the last page of the report was faxed, the summary, as the entire report was 39 pages long!!  Oh my!  And to think that no doctor before would order an MRI for me.  The bottom line was a I had an ‘abnormal’ area suspicious for microadenoma, a very small tumor on a very small gland but wreaking havoc on my endocrine system!

Then came the awaited email from Dr Freidman’s office to please schedule a phone appointment.  My initial appointment with Dr Friedman had to be in person so that he could appropriately evaluate me.  After that appointments can be done either by phone or email.  The day came…and so did my clearance for pituitary surgery!

At my appointment with Dr Friedman, I felt like a ‘typical’ patient….something I hadn’t felt in a long time!  We reviewed my past testings, symptoms, picture timeline and he told me that Cushing’s was a possibility. I was scheduled for a dynamic pituitary MRI the following day, and his belief was that if I had an abnormality on MRI then I probably had Cushings.  He sent me home with lab orders to complete, one of which is a specialized test that only he does in diagnosing Cushings.  Dr. Friedman believes Cushings is a disease of high cortisol at night, and so he focused on cortisol levels at night by way of midnight serums/salivas, along with a specialized urine collection which is collected from 10 p.m. to 8 a.m.  He also has his patients test 24 hr urines, but recognizes a cyclical Cushing’s patient will have periods of low, normal, and high cortisol throughout the day…if that is all collected together then a sampled it is very likely to average out into the normal range.

 The next day I went to Torrance MRI center and I was really anxious!  I’m a bit claustrophobic and I knew it was going to be tight corners!!  Thankfully there was a bit of pharmaceutical help to be had, and the techs are awesome.  I was pleasantly surprised at how quickly the scan went. 

Now that my medical business was finished in California…Tami and I were able to play!  We went to a taping of the Mike and Molly show, did a Warner Bros. studio tour, a ‘sites and bites’ tour of Santa Monica, and a day of touring LA by way of the hop-on-hop-off bus.  Actually, the day of the HOHO bus, I had to send Tami out to start without me…we went out to breakfast and I was really struggling.  Thankfully later in the day I was able to meet up with her at the Farmer’s Market and finish out the day together. 

CALIFORNIA HERE I COME!!

 Remember my respect for those who have gone before me….well they all gave the same advice.  ‘Stop beating your head against the wall and go see a Cushing’s expert’…..at this time there were 2 recommeneded, equally respected as experts but each with pros and cons.  I decided to go see Dr Theodore Friedman in LA, more info at www.goodhormonehealth.com.   Booked my appointment, booked my flights and started compiling papers and pictures and charts in my binder.  My bestie Tami was going with me and we’d take a couple days in LA to play after the appointment and MRI.  Yes, you read that correctly…Dr Friedman was going to order a pituitary MRI for me!  oh joy!  The one request I couldn’t seem to get fulfilled here at home.  I know God’s hand was in this, as up to this point I didn’t know how very critical it was that specific protocol be followed for scanning this pea-sized gland, and so had it been done prior I may not have had it done correctly. 

My appointment was March 1, 2011.  .  Eight and half months after my belly swelled up without explanation.  I had a CT of the abdomen and pelvis, a pelvic ultrasound, a consultation with a rheumatologist and my gynecologist, and numerous visits with my PCP.   Seven months after the word “Cushing’s” had been first uttered to me by endo #1.  Six and a half months after endo #2 dictated his suspicion for Cushings was ‘quite low’.

I didn’t want to tell people what I was doing.  After all I had gone through extensive tests and appointments and nothing was found wrong that couldn’t be fixed with some diet and exercise, or so I was told.  I knew my body, I had been an avid exerciser for 15 years!  I had completed 10 half-marathons!  Something was wrong!  And yet the judgment I felt, whether it real or perceived, kept me from shouting out loud that I was going to see the man who was going to figure it out!!  People mean well, but don’t know what I say.  I actually had a friend say to me ‘you just want to go to California’.  For real?  Yes I want an illness that no doctor here is willing to properly evaluate me for, or have the courage to diagnose it, so I’m going to travel across the country to see a doctor who doesn’t take insurance but actually researches the disease I “think” I have. 

Maybe that’s a bit harsh….i really did believe that if I didn’t have Cushings, then Dr Friedman would still be able to figure it out.  He is the master of diagnosing difficult endocrine cases. 

I just flipped through my binder and saw that after my appt with endo #1, I wrote her an email sharing some articles on testing for Cushings and asking for more labs and a pituitary MRI.  I never heard back from her. 

My first ‘cold’ midnights were within the ‘suggestive’ range for Cushings syndrome, although my 24 hr UFC were normal my 17 OCHS were high indicating states of hypercortisolism, but not the constant state which would bring in the high 24 hr numbers.  I had one 8 a.m./4 p.m. day which showed a lower number in the morning and a higher number in the afternoon.  This is ‘diurnal flipping’, where one’s cortisol production is opposite of the natural healthy rhythm.  I shared my testing with my new Cushie family on the message boards and I will always remember the reply of “Welcome to Cushings” after my diurnal flip was proven.  Not a club anyone wants to join….but clearly God was giving me the direction…..in random testing I was getting results suggesting Cushings and those who went before me and had the knowledge and experience encouraged me to keep going…….

I decided to try a different local endocrinologist; there are only 2 in my small town.  I prepared myself with my questions and new lab results and made the appointment.  I really wanted this to work out.  I was so disappointed when almost immediately I felt ‘scolded’ for seeking a second opinion.  He actually questioned why I wanted a second opinion as he knew the first endo I saw and she was good.  And that they both had attended a conference on Cushings at NIH and so therefore they knew all to know on the subject,  in his humble opinion.  He recognized that I did indeed have a couple abnormally high cortisols, but since I also had normal results it was his determination that the likelihood of Cushings was ‘quite low’.  He continued with “…it could be very early stages of Cushing’s and if that is the case, this can often be difficult to diagnose.  This is generally not a clinical emergency and can often take time to evaluate and actually determine if there is Cushing’s.  We will plan on re-evaluating many of the testing she aleady done and go from there”

Now call me crazy but re-evaluating what’s already been evaluated and dismissed by you?  not a chance.  I guess I should give him credit for recognizing the possibility of Cushing’s as he dictated in my consultation letter I just quoted, but in that patient room he told me since I didn’t have purple stretch marks or a ‘beer belly’ it was very unlikely I had Cushings. I asked him flat out “how much weight do I have to gain for you to consider this?”  He assured me that he didn’t want me to gain any more weight, but he would not order a pituitary MRI for me at this point.  Even though I had abnormal cortisol labs, I also had normals.  I felt like the normals trumped over the abnormals and that thinking seemed backward to me.     After I left his office with 3 more saliva tests to complete.  I wrote him a short letter and included pictures of my ‘beer belly’ taken later that very day, as it came like clockwork every evening.

 This endo did offer to send me to Mayo, but I had done my homework and knew that Mayo is not helpful for cyclical Cushings…the type of Cushings I believed I had with fluctuations in cortisol levels.  I decided to do those salivas and when they resulted I got a call from his nurse wondering why I did them since I had cancelled my follow-up in 3 months.  I explained that I wasn’t going to wait, to get sicker another 3 months, and I was moving on.  She told me that endo #2 wanted me to call and let them know if I got a diagnosis.  I never did that.  I think I’ll send him a letter in hopes that he won’t make those quick judgments the next time he has a patient like me.

Up to this point I had full trust in my doctors, and no reason to doubt what this endiot had just told me.   I just couldn’t wrap my head around a dramatic, rapid health change with no cause.  I refused to buy into it.

I read all that I could on the Cushings-help board and vowed to learn from the experiences of those who had gone before me.  The key lesson at this stage was:  Cushing’s syndrome could not be ruled in or ruled out with only a couple lab tests, it would take multiple tests in the 3 areas that cortisol is tested in, which are blood (serum), saliva, and urine.  Not everyone ‘spills’ cortisol in all three areas, so it’s recommended to test in them all initially.  Thankfully my PCP is in my corner and agrees to write out labs orders for me, I asked for midnight cortisols, cortisols at 8 a.m. and 4 p.m. on same day, and 24 hr urine UFC (urinary free cortisol) with 17 OCHS (hydroxycorticosteroids).  He wrote this for 4 times each.  Now the gamble….I had to get them done on days which I felt ‘high’ to show the imbalance.

Spiritually I had to ‘Let go and Let God”…..I had to find peace in this chaos.  My daily prayers was “Lord, guide me in the direction to correctly figure this out and give me the strength to follow your guidance”

well, not the exact beginning, but the beginning of Cushing's road.....

nearly two years ago I suddenly developed PPPB...pseudo perpetual pregnant belly.  I was volunteering with my daughter's  youth group on a local mission work week, painting in the heat of July and found i couldn't bend down to do the baseboard trim at all.  my PPPB was denying me this capability.  By the end of the week I was at my PCP's office, pointing in confusion to my distended abdomen.  This was followed by a couple weeks of blood tests, CTs, ultrasounds...nothing wrong.  I pursued with two specialist visits to an endocrinologist and rhuematologist, and I was just sure my family history of rheumatoid arthritis had caught up to me.  The endocrinologist evaluated me, judged me on what she perceived to be my lack of exercise...despite my insistance of the opposite having completed my 10th half-marathon earlier that spring.  Spoke the words to me that changed my life, 'we'll rule out any possibility of Cushing's syndrome' but coached me on the rareness of CS and ruling it out was more like a formality. 

The rheumatologist found no signs of arthritis, thankfully, but cheerfully handed me a presciption for Plaquenil, a powerful drug used to treat bouts of malaria and of course, lupus and RA.  She couldn't give me a reason to ingest this intense medication, other than...it may help.  I still have that written presciption to this day, it reminds me to believe in what I know to be true of my body and not let any doctor persuade me otherwise.

Then I got the call, an excited endo on the other line declaring that yes indeed!  I would be her first Cushing's patient!  hurrah!!  The medical person in me got excited, she was enthuastic about a diagnosis and eager to embark on this!  I failed to see the red flag that is probably very obvious to you.  Would being her first Cushings patient ensure me quality and efficient treatment?  No matter...we were excited!  She said I would need to do two more tests to confirm the diagnosis and then i'd be off for imaging to find the tumor causing my cortisol levels to soar well above normal.  Eagerly I picked up my lab slip and saliva kits and followed her instructions.  Days later, she undiagnosed me....in her words 'she was able to turn off my cortisol production' by my taking a steroid pill (i guess she crawled up in my head that night as i slept) therefore there was nothing wrong with me.  She didn't need to see me again...and my treatment plan was to diet and exercise....despite my complaints of low appetite do to queasiness and difficulting in exercising due to the insomnia that was now plagueing me

I guess in some ironic way I do have some gratitude from my first endiot....the days in between her diagnosis then undiagnosis I got busy on the internet and found a "Cushings Help" forum at http://cushings.invisionzone.com/index.php?act=idx.  The lightbulb turned on and I knew I had finally found the explaination to my suddent onset of symptoms that left me feeling like I had aged 15 years in 3 months

Living with Stripes

so, I have thought about from time to time, starting a blog to share with my friends and family my journey on this road called Cushing's disease...but normally i just figure life is busy and hectic and really, who wants to read a depressing blog on my chronic illness.  But today on a private facebook group page, an online Cushing's support group, somone posted and encouraged us fellow Cushies to keep blogging about our disease.  It has been an avenue for those undiagnosed, untreated, unfamiliar with this 'rare endocrine disorder' of education and awareness.  So, tonight i sit here buying time until I go to the lab for my midnight blood draw, and i'm inspired to do this.  If nothing else it will serve as therapy for me, and if you are reading I hope I can shed some light on Cushings to you

first off, you may be confused by the title I choose for my blog.  maybe this will help explain:

"Zebra is a medical slang term for a surprising diagnosis.  Although rare diseases are, in general, surprising when they are encountered, ..... "When you hear hoofbeats behind you, don't expect to see a zebra",... Since horses are the most commonly encountered hoofed animal and zebras are very rare, logically you could confidently guess that the animal making the hoofbeats is probably a horse. ....
Three master diagnosticians have noted, however, that cautions against making surprising diagnoses (e.g. of a rare disease) are not valid in practitioners with greater knowledge and experience:

In making the diagnosis of the cause of illness in an individual case, calculations of probability have no meaning. The pertinent question is whether the disease is present or not. Whether it is rare or common does not change the odds in a single patient. ... If the diagnosis can be made on the basis of specific criteria, then these criteria are either fulfilled or not fulfilled. -- "

http://en.wikipedia.org/wiki/Zebra_(medicine)

Cushies have adopted the zebra as a mascot for just those reasons.

There is so much to share and I'm not sure where to start, I guess at the beginning.....