Tuesday, November 1, 2011

Acromegaly - The {Self} Diagnosis

Yeah.  I know, right?  Acro-what!?

...The story of how I came to be diagnosed, in the fall of 2010, 
with a rare disease called acromegaly (ak-roh-MEG-uh-lee).

On our wedding day, now more than eleven years ago, I was athletic, petite, small-framed.  The white strappy sandals were a size 8.  The ring Dan placed on my finger a size 6.   I was 21.

At 23 I delivered our first child, 7lb. 6oz. Isaiah.

At 26 our second son, 6lb. 3oz. Elijah was born almost four weeks early.

With each pregnancy, or so it seemed, I needed new shoes. New shoes in bigger sizes.   I blamed the pregnancies, the extra weight, and the shoe companies for not keeping their sizes consistent!

At age 27 I had my size 6 wedding band cut off during a terrible experience with poison ivy.  I blamed the ivy and again the extra weight.

At 28 Dan had my engagement ring resized for me as a gift.  I hadn't been able to wear it in several years because it had become small.  It was resized to two full sizes larger than the original.

At 30, the engagement ring would no longer fit on my finger.   The child we were expecting was miscarried at 7 weeks.

With age 31 came the delivery of our third child.  An 11 pound infant born just five days past his due date.  Yes.  That does say 11 pounds!
Sweet Noah came into the world nearly the size of a toddler, delivered naturally and drug free just as his brothers were.  It was a perfect delivery, minus the hemorrhaging that followed.

Just a week or so before his birth I asked the midwife, "how big do you think he is?"  She responded, "well... I'd say no more than 8 pounds, but they've done studies that have concluded that the mother's guess is almost always the best guess".  I cringed and said, "Oh No!  He's HUGE!"  She laughed and sent me on my way.

Noone expected him to be as large as he was.  The midwife's only conclusion was that I must have had gestational diabetes even though I had passed the screening.  The midwife called a few weeks later asking it if would be OK that she have her picture taken with Noah at my six week post-delivery check up.  It was the largest baby she'd delivered in 30 plus years as a midwife.

That same year, I injured my knee walking in the park.  It swelled so badly it could not physically bend.  My leg was blue.  X-rays revealed that it was fine.  It was "just osteo-arthritis" according to my doctor.  "Take some vitamins" she said.  "Take vitamin D too as you're a bit deficient.  You are fine.  Just a busy homeschooling mom with three boys!"

I went home having filled a prescription to reduce the swelling, thinking "who at age 30 has arthritis this badly!?".

I returned to the doctor, insisting that it was necessary to pursue the cause of the strange symptoms.  The feet that had seemed to grow yet again, the aches and arthritis and the increasing fatigue, the constant sweating, muscle weakness, facial changes (cheek bones, hat size, tongue, teeth and jaw changes), constant swelling and water retention, increasing blood pressure, sleep apnea...
The eleven pound infant born the year prior was the major clue that something more was wrong.  It was not as simple as a vitamin deficiency.  I wasn't as old as I'd felt.  It was more than being a "busy mom".
Of all the lovely symptoms the fatigue was the worst.

Given that there is a family history of autoimmune disease, that seemed a logical place to start.  The doctor tested for anything she could think of that could cause fatigue.  She tested for lyme, she checked my thyroid function.

Everything came back negative.  She said, "what else?"  She ran a few more tests.  As I was leaving she said "if there's anything specific you find that we should test for, let me know!".  The second round of tests came back negative.

I began to make lists of all the odd symptoms.  Many I had initially excused as a result of my "old age", the result of an extra 40 pounds or so that had accumulated, or the result of pregnancy.

When the list seemed complete, I scoured the internet.  I called the doctor and requested one more round of tests.  I wanted my growth hormone levels tested and my cortisol as well.  She said, "those are fine!"  I asked how she knew and her response was, "Those are so rare!  You don't have a rare disease!"  I pushed. I said, "If you aren't comfortable running the tests I need to ask you to refer me to an endocrinologist".

Her response was, "I will.... but you are wasting his time".

She referred me to one in her practice and I met with him shortly after having made the appointment.  At the first visit I made a point to not tell him what I thought the cause of the symptoms to be, but simply handed him my long list of symptoms and said, "I feel old, fat and lazy".
He asked about my shoes.  My size 10 sneakers.  He asked about my wedding band.  The band that was now a size 8 and stuck on my finger.  He said he wanted me to head to the lab for some tests.

When he handed me the lab slip and I saw what he'd ordered, I asked, "couldn't two shoe sizes be caused by extra weight and three pregnancies?"  He smiled, knowing I knew what he was testing for, and responded in his chinese accent, "No.  Not that much!  This is very abnormal!"  The tests he had ordered were the tests I had requested of the initial doctor.

Several weeks later I returned for the results.  My growth hormone (GH) levels were elevated so a longer, more conclusive test was scheduled and a test was also done to check the Insulin-like Growth Factor 1 (IGF-1) levels.  The levels of both GH and IGF-1 were again quite elevated and an MRI revealed the cause, but because the doctor had only seen acromegaly once before in his life long career as an endocrinologist, he did not feel comfortable confirming the diagnosis.  I was sent to Boston.

The neuroendocrinologist in Boston confirmed what I already knew to be true.  I had acromegaly.  A rare disease in which a hormone producing adenoma secretes an overproduction of growth hormone causing excessive growth throughout the body.  When the tumor begins in childhood the result is gigantism.  In adulthood, when the bones have fused prior to the development of the tumor, the result is acromegaly.

In my case, as in most cases, the adenoma was found in the pituitary.  It was also attached to the carotid artery and next to the optic nerve at the base of the pituitary gland.  {The pituitary gland is an endocrine gland about the size of a pea at the base of the brain.}

In English, the cause of the disease, the cause of all of the symptoms, the cause of the bone and tissue growth, the cause of the 11lb. newborn (or rather the cause of gestational diabetes), the cause of the fatigue and muscle weakness, the possible cause of a miscarriage, was a brain tumor.

 ...To be continued...

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