Laura started noticing her body was changing 18 months after having her second child. After several doctors visits, she started doing her own research. She became convinced she had acromegaly – and she was right. In 2021 she got her formal diagnosis.
Getting the right diagnosis
Laura started noticing her shoes did not fit, she could no longer wear her rings, her joints hurt, and she had gained weight. The symptoms that kept her going back to the doctor for answers was missed periods. Symptoms escalated but the doctors didn’t know what was wrong.
“In 2018, when symptoms began to show themselves, I had just had a baby, so initially I thought these changes may be after-effects,” explains Laura. Standing on her feet for 12 hours a day while working in the family-run bakery also didn’t help. “My hips hurt really badly, so did my knees and hands.” Laura went to the doctor, who ran some tests and checked for arthritis. “They said I was a little low on vitamin D, that was all.” By then, she had increased a shoe size, gained a lot of weight, hadn’t had a menstrual cycle for months and experienced frequent strong headaches.
Laura was depressed, finding herself in a negative spiral, knowing something was not right. She started having vision problems, sleep issues, excessive sweating, her hair texture changed, skin became oily, and she noticed changes in her facial features. “I kept looking in the mirror and asking myself, ‘why are you getting so ugly?’”, she tells.
“One day, I was so mad, I took our door and I just slammed it against the wall and made a hole in the wall. This is not me; this is not who I am.”
Before starting the family business, Laura used to teach science. “In college, anatomy was my absolute favorite class and I remember learning about the pituitary gland and reading about acromegaly,” says Laura. She started doing some research, finding out how a pituitary tumor can cause acromegaly.
“I remember looking at my husband in the Christmas of 2020 after hours and hours of my own research and saying, ‘I know what I have, it’s not cancer but it is a tumor causing acromegaly - a very rare disease.“
In January of 2021 she went back to her gynecologist and asked for a referral to an endocrinologist.
The endocrinologist ran more tests, including checking Laura’s growth hormone level and IGF-1 level, which was over 1100 (normal range is under 200), the doctor immediately ordered an MRI to confirm the tumor. Laura was correct – she had acromegaly, caused by a macroadenoma tumor on her pituitary gland. The diagnosis was something of a relief. “It was finally an answer confirming what I had researched for so long, not just a band aid over the true problem.”
In April 2021, Laura had her first surgery, which removed half of the tumor. She was put on medication which did not work very well. At the beginning of September 2021, Laura sought out a second opinion and had a successful second surgery completely removing the remaining tumor. Now she must wait three months to see if her pituitary gland starts working again, or if she will need medical treatment.
“What scares me about this disease is that so many doctors could have diagnosed it. But it is not common, so it is not on their radar,” Laura says.
“Because I did my own research, I was able to catch it earlier than most and I don’t have as many of the physical deformities that a lot of people with acromegaly have due to the lengthy time between disease presentation and correct diagnosis. “
Changing the narrative
Laura is determined not having her life revolving around her acromegaly. “With two kids, owning a business, wanting to go on vacations and see family, I do not want to have to live my life circle around my disease or by the physical ailments from acromegaly.”
“When diagnosed with such a rare disease, it is easy to stay in a negative mindset. But what if we change the narrative – to focus on the positives. Everyone’s life is going to be tough – even if my tough may be different than yours."
"We all will walk through dark times in our lives and having a rare disease can be a very lonely journey. I believe I was given acromegaly for a purpose; instead of focusing on the negative, I am choosing to share my journey with others, hoping to give some light and hope to others walking the same path.“
- Enlarged hands and feet
- Altered facial features
- Joint problems
- Muscle weakness and fatigue
- Anxiety and depression
- Soft tissue swelling
- Excessive sweating
- Sleep apnea
- Loss of vision
Diagnosis is usually done by an endocrinologist, typically a pituitary specialist (neuro-endocrinologist), even though referral may come from physicians from a range of medical specialties. Diagnosis often starts with laboratory assessment, such as the measuring of growth hormone level, with MRI scanning as a second step.
Surgery and/or medical treatment, sometimes in combination with radiotherapy.