Cushing Disease – Be your own advocate

Around the age of 18, my periods became very uncomfortable.  To the point where I would vomit and at times pass out.    I started to gain weight and by the time I was in my mid 20’s I had also started to grow facial hair, not a soft down but distinct course hair particularly under the chin. My GP put me on the pill to regulate things, but the cramps persisted.  My husband and I had spoken about starting a family, but once off the pill, my menstrual cycle was all over the place and also at times non-existent.  Another huge issue for me was heat intolerance – I was just “hot” all the time.
Eventually, I was referred to a fertility expert who said I had “polycystic ovaries”.

Although I sensed that things were not quite right, I was shocked that perhaps my chances of conceiving were limited.  With the help of an egg releasing medication called “clomid,” I conceived and delivered two beautiful children, with one miscarriage in between.

A few years after the birth of my second child, the weight started to pile on again.  I tried to control the facial hair with electrolysis and waxing, but this time it was a bit different.  My hair on my head was thinning, but yet the hair on my body was coarsening.  And acne started to appear.  I also noticed that I had stretch marks on my torso, upper legs, and breasts – and my belly looked bloated most of the time.   I recall going to a shoe store and the attendant asked me when the baby was due.  I didn’t know what to say so picked a date 2 months away and walked out.

I was always tired.  We would go out to family functions and I would end up on their couch resting up.  I even missed my son’s school graduation, one of my biggest regrets.  Living in a Country that has very hot summers and mild winters, the heat really got to me. I would sweat a lot – while my husband was under two blankets, I would be on top of a sheet.  I recall one morning after cleaning the floors, looking into the mirror at a red, sweating bloated face that had puffy eyes – and I thought to myself – who could love you….    To manage all of this I cut my hair really short, bought clothing that floated around my body (to hide my big stomach) – I could not wear jeans any more with a zip – it had to have an elastic waist.  I hated my appearance and have hardly any baby photos with myself – they are all with my husband – and of course, the light had to be always off for any intimacy.  Intimacy issues were huge, the lack of libido upset me but my husband was very understanding.  I commenced blood pressure and cholesterol tablets.  My menstruation had stopped again, and I went to a menopause clinic.

The fatigue got me down and I was always having chest infections.  My doctor did a blood test that showed elevated Neutrophils (Source Wikipedia:   Neutrophils are a type of white blood cell (WBC or granulocyte) that protect us from infections, among other functions. … The neutrophil count may be high with infections, due to increased production in the bone marrow as with leukemia, or due to physical or emotional stress.)  We waited for 6 weeks then performed another blood test.  The next step was a bone marrow biopsy at a cancer clinic.

This procedure was quite comfortable – it was the emotional stress that was uncomfortable.  I awoke to a very kind nurse stroking my cheek.  The good news was that I did not have a blood cancer, the bad news was that I had high cortisol levels indicative of a disease called “Cushing’s”.

Interestingly the symptoms of Polycystic Ovaries are similar to that of Cushing’s Disease, so it is hard to clearly determine at what point the Cushing’s started, but I would say at least 7 years prior.

Then it was off to an Endocrinologist.  Endo who – what?  Never heard of such a person.  I left that clinic under the impression I had a terminal illness. I rang my husband when I got home, wondering how my children would cope without a mother.  The Endo was so focused on the disease and what my fate would be, he neglected to say – “but there are treatments”.  An MRI was performed – nothing spectacular there – no visible tumour, but the mid-line stalk was hanging off to one side a bit.  The blood pathology kept coming back confused, and to the Endocrinologist’s credit, he referred me to a Tertiary Hospital.  Of course, this took around 3 months to get an appointment.

An inferior petrosal sinus sampling was ordered (a test where they put catheters into your groin and wire you right up to either side of your pituitary gland and take internal blood sampling).  By this time the pathology did not show any signs of raised cortisol levels – but there was evidence from the cancer clinic that I had previously had raised levels off the chart.  So this very nice researcher sat me down with my husband for over two hours, talking over the implications of Cushing’s Disease, and where we were to go from there.  They decided that they would continue to monitor my urine pathology – it seems I had cyclical Cushing’s – meaning the hormone output would turn on and off in the bloodstream.  Cushing’s itself is rare, but cyclical is even rarer.   We waited for around 6 months for the next pathology, which was negative, so dutifully, under their instruction, every morning I would take an early morning urine sample and freeze it and deliver it to the hospital pathology once a week.

I noticed I started to feel funny again.  I was so tired, yet felt “racey” inside.  Tired is not a good word – exhaustion was more like it.  My feet hurt (under the soles) and my sleeping habits were shocking, the sweating was terrible. I decided to ask my GP to do a random cortisol test as I thought the thing was active again.  I was right!  So, my next appointment at the endocrine Clinic which was in 2 weeks, I went in with the knowledge that it was back.  They arranged an inferior petrosal sinus sampling again.

This time I asked them to do a blood test the day before the petrosal sinus sampling to be sure it was still active.  The test is very uncomfortable and risky too – so I did not want another false start.

Bingo!  Raised ACTH  hormone levels to the right side of my pituitary gland.  I was then referred to a neurosurgeon.  This again took months to see him.  I was placed on a waiting list.  After 4 months of waiting (public system), I decided to pull out into the private sector to get things moving.  It was breaking my feeling of safety really, leaving all the people who had worked with me during this time – doctors; nurses; pathologists.   BUT things didn’t get moving, the private specialist would not take the readings from the hospital and started the whole investigative routine again.  While waiting for the results and forward appointment with him, the Tertiary Hospital rang stating they had a surgery date. I didn’t know whether to laugh with relief or cry at my situation.

So in July – nearly two years since the cancer clinic experience, I proceeded to transsphenoidal surgery.  The pathology showed a small ACTH tumour which was curetted from the right side of my pituitary along with normal tissue.  Recovery was terrible.  Besides from managing diabetes insipidus and other hormone deficiencies, I experienced severe facial pain, they kept me in for a few extra days, then let me home.  Within a week I was walking the floors at home (due to head pain) and one morning my husband saw that my right eyelid and surrounding face was swelling.  The discharge from my nose was not pleasant.

I entered the hospital through the emergency.  An endoscope found that residual packing had not been removed from my sinuses after the operation, and I had an infection.  Another two and a half weeks in hospital having IV antibiotics through a pick-line in my arm.  Regular check-ups, and head pain that lasted for two years as my sinuses where pan-blocked including the sphenoid sinus.  I could not work.

I was also very angry, so pulled my medical files through patient access, and spoke with patient advocacy heads.  I didn’t want this repeated for other pituitary patients, so I spoke up.   In my notes, from many years before, at the menopause clinic, a doctor had written “This woman needs to be tested for Cushing’s” ….  What can I say….

So, here I am now, 23 years later.  3 sinus surgeries behind me.   Living a good life with my family, enjoying three grandchildren.  Though I still wonder what type of mother and wife I could have been if I did not have the burden of Cushing’s Disease.   These days I have been left with type 2 diabetes, bad vertebrae in my spine, a heart that survived an attack but now has a reduced ejection rate.   The body is 60 now, showing its age, but then I always felt I lived in an old body since I had Cushing’s Disease.

What I’d like to say to people is “be your own advocate”.  You know your body best.  Look at me – I could tell it was back without the pathology.  Speak up, don’t be brushed off.

Sue Kozij

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