On genetics, family and acromegaly

An acromegaly story all the way from Patagonia, Argentina

From J D Faccinetti – Pituitary World News co-founder  –  Carol Mackie Passera (Passera is her married name) is my second cousin. Our maternal grandmothers were sisters. Their families immigrated from Scotland and Wales in different waves to Argentina in the mid 1800’s to the early 1900’s when many European immigrants came to the southlands in search of opportunities and a better life, not unlike the many people that came to the US during the same period in search of the same things: happiness, wealth and opportunity.

Early settlers from my grandmother’s maternal family arrived in the now famous, cold, inhospitable, mysterious, but beautiful Patagonia region of Argentina. If you want to learn about this spectacular place visit Carol’s eco travel business (http://www.causanaviajes.com.ar) and browse through the pages, I guarantee you’ll want to go there tomorrow and experience some of these incredible places.

I honestly can’t tell you when was the last time Carol and I saw each other. We were probably 10 years old. Perhaps we saw each other one or two more times after that, but I really can’t remember. I came to the US in 1973 when I was 19 years old and I haven’t seen or heard of Carol and her family since. The advent of technology and social media has allowed me to reconnect with that side of my family and last month, after a series of coincidences, I learned Carol has Acromegaly.

Her story is very similar to mine, but then again, all of our stories are. Things start growing, blood pressure goes up, blood sugar goes up, teeth star moving, energy goes down, bones and joints start hurting, and more, lot’s more. Nobody pays attention. Doctors don’t get it. We have no idea what’s wrong. Diagnosis is delayed. Often missed. You know the routine.

We immediately reconnected, shared our stories and life, and after all these years through the magic of technology and acromegaly, we became closer.

After I shared the news with my wife, my first call was to my Pituitary World News partner, doc and friend Dr. Lewis Blevins. He was amazed! My second call was to Dr. Marta Korbonits at St. Bart’s and The London Medical School in the UK, whom I met through Dr. Blevins a few years back in San Francisco. For those who don’t know, Dr. Korbonits is an expert in the genetics of acromegaly. She has been researching the acromegaly AIP gene mutation and the FIPA (Familial Isolated Pituitary Adenoma) gene. If you haven’t read about Dr Korbonits and her work, here it is. Give it a read. It is well worth the time.

At Pituitary World News we hope the knowledge gleaned from Dr. Korbonits work on the genetics of Acromegaly will help us understand how the disease can be better diagnosed earlier so more cures can occur.

I’m happy to report Carol is doing very well today!  Here’s her story.

 

My acromegaly story by Carol Mackie
“The job I have done most of my life is leading tour groups around Argentina and Chile showing them birds, as well as flora and fauna, I am a self-trained naturalist. Showing people birds means you are responsible for finding them and showing them to people who have paid to be on this tours and are very disappointed if you do not find them. It requires excellent eyesight, which I had. Locally some colleagues would call me “eagle eye”.
When I was in my early 30’s I began noticing that my feet, head and hands were growing. I lived in a small town with 20.000 inhabitants –Rawson- the capital of the province of Chubut in Southern Argentina. I never went to see an endocrinologist or even thought about seeing one. I did mention it to my gynecologist and physician but they told me to eat less.
About 5 years later, and after having a parotid pleomorphic adenoma removed by a very good local surgeon, my family and I went to live for 3 years in Buenos Aires. While living there I went to see a gynecologist and he told me to go to see an endocrinologist as I had what looked to him like a lot of fluid retention. I started taking a diuretic and got on a no salt diet.
After I went to a Hospital with a good endocrinologist who had helped a friend of mine. To make a long story short, they told me I had a benign tumor that secreted Growth Hormone and that they were going to give me a medication. Not much more was explained and Google/Internet was not available. It was a couple of years later that I bought a computer and started with the program that was previous to Windows. So I could not find information on my illness. I remembered a famous Argentine Tango singer had this same illness and not much more. I felt I was a freek and several other doctors tried to take me to their hospitals as a rare case but this did not make me at all happy. I ran from the hospital that offered me the medication and had diagnosed me.
Two years later my family and I returned to live in Southern Argentina, to Puerto Madryn, 1.000 miles from Buenos Aires city with no medical insurance or jobs. We opened our own travel agency and finally got medical insurance. This took from May 1995 until September 1996. During 1997 I went to see a local endocrinologist as I was having daily headaches and feeling very tired.  He was sincere and told me the best I could do was to go and see a Doctor at the Italian Hospital in Buenos Aires. I had transsphenoidal pituitary surgery about 5 months later. A large % of the Adenoma was removed but some Growth Hormone secreting tumor remained so I was on different meds until the one that has kept my IGF1 level normal was Sandostatin Lar, first of 20mg, now on 30mg, once a month. It is not easy to get your medical insurance to pay for it and I have had help from whom my actual endocrinologist, Novartis, the local association called APEHI. I refused to have conventional radiotherapy as I was very, very afraid of loosing my eyesight. By then I could find information on Internet and I was in contact with several doctors in the USA who would send me information to read.
One must be very informed on Acromegaly, over the years you become very instructed as this helps you live with your condition. Each patient I have met has different symptoms. I met a man from Canada who became a good friend and years later he was diagnosed with Acromegaly. He looked obese, his face used to sweat a lot, he loved sweet things, had to eat often during the day, and had a very large tongue. He now is receiving treatment and has had 2 surgeries but by the time he was diagnosed had a heart condition. In my city my physician has diagnosed 2 other cases since I went to her so she could follow my case and all my side effect such as insulin resistance, hipothyroidism , and prescribe all my meds.
In 2004 I was treated with Lexer Gamma Knife in Buenos Aires with the hope that this would prevent the growth hormone producing cells from reproducing. After 10 years we know it had no results.
Today I am almost 60 years old and have learnt to live as best as possible with my illness. I was diagnosed in 1993 so have been living with acromegaly for 22 years.
I think an acromegaly patient dream is to have a good doctor who listens, who explains things in a way we can understand, who works as a team with our traumatology, with our dentists, with our eye doctor, and with a nutritionist as I believe that after surgery we should be given a special diet.
Now having found out that my second cousin has acromegaly we have both asked ourselves if there could be a common gene or something we inherited. In my case my father was born in Scotland and my and Jorge great grandfather was from Scotland.”

 

 

The human Genome – photo by: Victoria Pickering

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1 COMMENT

  1. I had an Uncle on my father’s side whom had acromegaly and died from it in 1968. Then I was diagnosed with acromegaly in 1999. I too, wonder if it is a genetic problem. It makes me wonder.

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