Let’s start with the most basic yet most complicated question…
What is Acromegaly?
Acromegaly is a disorder caused by a tumor on or near the pituitary gland that produces excess growth hormone. This causes the soft tissues of your body to continue to grow even though the rest of you has stopped growing. Externally, growth is most prominent in your hands, feet, jaw, nose, and forehead. However, the growth can also continue internally, causing enlargement and swelling of the organs, such as your heart, liver, kidneys, and so on. This can lead to many secondary diseases when these organs are no longer able to function to their full capacity.
Acromegaly is considered very rare, with fewer than 20,000 cases per year. I have a version caused by a genetic mutation that is even rarer, but more likely to be found in young females diagnosed with the disease.
Many hormone-related disorders are also associated with acromegaly such as hypothyroidism and Addison’s disease. This is because many tumors grow into the pituitary gland, preventing it from sending out the proper signals that then create these hormones. For example, the pituitary produces TSH, which signals the thyroid to produce T3 and T4. However, a damaged pituitary may not always produce TSH when needed so either TSH or T3 and T4 will need to be synthetically added to the body through medication.
In my case, most of my pituitary gland was removed throughout my three surgeries, therefore I have to synthetically replace my thyroid, cortisol, estrogen, and progesterone because my body no longer makes enough on its own.
How were you diagnosed?
I started going to a gynecologist after two years of amenorrhea (lack of periods) and unexplained weight gain. I was running cross country at the time, and while everyone else on the team kept improving, my times continued to get slower. Also, no matter how much I ran or how clean I ate, I kept putting on more weight. It didn’t make any sense.
My gynecologist ran some blood work, found some disparities in my hormone levels and suggested that I get an MRI. She (mis)diagnosed me with a slow-growing pituitary micro-adenoma and told me not to worry.
Fast forward five months, I was back east where I was attending school in New Hampshire. My Grandpoppi had just been diagnosed with glioblastoma and my symptoms continued to get worse.
My mom decided we needed a second opinion.
By some miracle, my Granny was able to help get me in to see one of the top pituitary surgeons in the world, along with the endocrinologist he worked with.
We drove down to Boston and discovered that my “slow-growing” tumor had grown from the size of a pea to the size of a golf ball in less than four months. My pituitary gland was completely smashed and barely visible in the MRI. I needed surgery ASAP.
Honestly, my first reaction was to wait. It wasn’t cancerous. It couldn’t be that serious. I had Nordic Ski Training in Canada in a couple of weeks. Dr. Laws quickly changed my mind. Just because it was benign did not mean it was not threatening. I could wait, he said, but it might kill me. (They later actually started to treat it very similarly to cancer because it kept coming back, but this blog mostly focuses on the acromegaly treatments)
Immediately my mind was changed. Surgery it was.
After I was diagnosed, it was much easier to put a name to my symptoms. I had often complained of my tongue feeling too big for my mouth. Buying shoes had also become difficult because my feet were so swollen, I needed a double extra wide just to be comfortable. I thought I was going crazy. My diagnoses gave me peace of mind.
After my first surgery, all the swelling in my body went down immediately. I lost 15lbs during my first five days in the hospital, mostly just swelling and water retention caused by the disease.
First off, I would like to say that my current endocrinologist, Dr. Kevin Yuen, is remarkable and is always researching new treatments to try, and I’ve tried a lot of them. Second, my treatment journey is also uncommon because of how many surgeries and medical treatments I have tried. Just note this as we go through my treatment journey.
- Transsphenoidal Surgery (brain surgery through the nose) to remove the pituitary tumor. (Sophomore year of high school)
Note: not all of the tumor was able to be removed at this time as it had grown so large that it had spidered into the left side of my brain, wrapping around my carotid artery.
2. Medical Therapy: Lanreotide/Somatuline Depot. A deep subcutaneous injection received once per month. This drug was supposed to prevent further growth of the tumor. For me, this was not the case, and we later learned that this is because my tumor is due to a genetic mutation, and these are less likely to respond to Lanreotide.
3. Second Transsphenoidal Surgery (Senior year of high school). This surgery was much more aggressive and resulted in the removal of part of my pituitary gland.
Note: Lanreotide was stopped before surgery.
4. Medical Therapy: Pegvisomant/Somavert Injection. This drug intercepts growth hormone secretion receptors, lowering levels of IGF-1 (Insulin-Like Growth Factor 1) which is used to measure acromegaly. If I remember correctly, I was on this injection every day at first. I currently take it every 10 days.
Octreotide/Sandostatin LAR injection. This drug reduces growth hormone and IGF-1 by intercepting receptors and also helps reduce tumor growth. I am prescribed this “as needed” when I have symptom flare-ups. This drug can be taken up to three times per day.
5. Third Transsphenoidal Surgery (March of Freshman year of college). MRI images made it appear that the tumor had grown back, but during surgery, it was discovered that it was mostly just inflammation caused from my body rejecting the artificial bone graft put in during the second surgery. The fake bone was removed, along with scar tissue, and some tumor. Most of the tumor was inoperable as it had wrapped around my carotid artery.
Note: Having three surgeries is rare.
6. Gamma Knife Radiosurgery (May of Freshman year of college): This is a type of radiation that uses hundreds of beams of low dose radiation that all intercept at a precise point to administer a very high dose of radiation. It works by damaging the DNA in the tumor. This prevents the tumor from growing, since like any cell, it grows when the double helix of the DNA splits in an attempt to replicate itself, but since the DNA is now damaged, when it splits the enzyme complex that usually binds to the DNA cannot bind to it and the DNA strand is left to die. It takes approximately three to five years to see results from radiation. Gamma Knife can have negative side effects as well, such as increased headaches. Also, any sort of radiation has the risk of causing new tumor growth in the future.
Note: Octreotide was stopped about a month before radiation and was not continued after because you want the tumor to be actively growing so that when the DNA splits it will die, killing off the tumor.
7. After radiation, I started to go to the infusion center twice a week where I am given a whole cocktail of drugs, (I am almost done with this treatment! Hooray!!). I take octreotide on an as-needed basis and I take Pegvisomant every ten days and have my blood work checked every week. I also have many other complications due to acromegaly and my surgeries and radiation that I also have to take care of, but I’ll save those for a future blog post. This illness is what inspired me to start looking into holistic approaches to healing, begin to revamp my diet, and not rely solely on Western Medicine.
It has taken a long time, and lots of trial and error, but for now my acromegaly is controlled. It is important to note that while this disease can be controlled if caught on time, it can never be cured. Like any chronic illness, I and others with the disease will live with it and its complications for the rest of our lives. However, the important thing to remember is not to let your illness define you and to continue to adapt and overcome and learn to live your best life possible and shine your light for the world to see.
UPDATE: I am happy to report that my last MRI came back tumor-free. I am now growth hormone deficient and am taking growth-hormone injections instead of growth hormone suppressors. I still deal with the side effects of my illness and all of its treatments daily, but my pain and fatigue are slowly getting better.