Sometimes there’s just no way around it, living with a rare disease is emotionally brutal and leaves you in tears on more than one occasion. Not only does the rare disease destroy your body, it often attacks you mentally, spiritually and financially. For many, the diagnostic odyssey can take years and be fraught with frustration, as provider after provider dismisses your symptoms, or worse, tells you “It’s all in your head.” This is what happened to Rare Disease Difference Maker® Jill Sisco.
Jill Sisco’s diagnostic odyssey spanned a decade and included visits to several providers, including one surgeon who did in fact tell her “It’s all in your head.” Jill finally found a pituitary team at MD Anderson Cancer Center who not only took her symptoms seriously, but pushed forward to accurately diagnose her with the rare disease acromegaly. Acromegaly is described by the Mayo Clinic as a hormonal disorder resulting in the pituitary gland producing too much growth hormone in adulthood. When this hormone is produced in excess in children, it leads to increased bone growth and increased height and is known as gigantism.
When acromegaly strikes in adulthood, it doesn’t impact the patient’s height. Rather, patients suddenly have to start buying larger shoes or the rings they once wore every day become more and more difficult to remove, as their hands and feet are growing. For women, who can experience foot growth during pregnancy, this makes acromegaly even easier to overlook, with a woman’s doctor attributing the growth to pregnancy.
For Jill, she also started noticing swelling in her face, accompanied by a coarsening of her facial features, changes to her bite patterns, gaps in her teeth, headaches, joint issues and soft-tissue swelling. Many of these symptoms can lead to mis-diagnosis of Rheumatoid Arthritis (RA). She also started gaining weight at a rapid rate, even though she limited herself to less than 1,000 calories per day. It can also cause a person to age at a faster pace than normal. Jill shared about Beverly Biller, M.D. a Neuroendocrinologist and Professor of Medicine at Harvard Medical School, who treated a patient with the physical appearance of someone in their 50s, but in reality, was just 19 years old.
Finding the endocrinologist who identified the true source of
Jill’s unexplained symptoms and referred her to the renowned surgeon who
performed the surgery needed to remove an 2.5 cm macroadenoma was a great
relief for her, but she didn’t stop there. She developed the philosophy that
the only way to help others with acromegaly is to make the disease, symptoms
and treatments known to as many people as possible. She works tirelessly to
develop a community of acromegaly patients, expert providers and family members
and loved ones.
For a rare disease like acromegaly, although surgery can bring initial relief, patients that have macroadenoma’s are typically not cured, but the condition is also medically managed. One of the biggest challenges to medical management is regulation of the hormones, growth hormone and ghrelin, which ghrelin controls hunger and therefore impacts appetite. According to Jill, she feels ghrelin is the reason so many acromegaly patients are constantly hungry after surgery. For the highest chance at success in managing acromegaly, Jill believes all growth hormones within the growth hormonal spectrum need to be checked regularly to ensure they remain in the normal range.
Within the Acromegaly Community nonprofit organization started by Wayne Brown, a person also diagnosed with acromegaly, and later led by Jill, patients have access to resources to help them find endocrinologists, neurosurgeons, neurologists and many other specialists familiar with and able to provide effective solutions to help patients survive acromegaly. Additionally, each new patient, family member and caregiver who requests access is verified to ensure ultimate respect for all members. There are smaller discussion groups focusing on a more targeted audience or topic, such as women living with acromegaly, or the popular diet and fitness motivation group. For the former, conversations may focus on child-bearing, excess facial hair, and the loss of menses. The latter provides important support to people who struggle with their weight due to unregulated hormones, especially those like ghrelin.
It’s important to Jill to focus on bridging the gap between patient and provider. As she personally lives with acromegaly, she is recognized as a Key Opinion Leader, earning entry into the Pituitary Society, an honor usually reserved for medical professionals. She’s been involved in 11 publications in various medical journals and has spoken before the Food and Drug Administration (FDA) about the importance of patient focused drug development.
For the patients living with acromegaly, families and loved ones trying to care for them and medical professionals who must diagnose and treat acromegaly, Jill is truly the cog that keeps the wheel spinning. It is why Jill Sisco has been named Engage Health’s most recent Rare Disease Difference Maker®.
Who’s made a difference in your rare disease? Whether it’s a teacher, parent, pastor, friend, or physician, if you want to recognize someone who has impacted your life, click here to nominate them! Not only do we hope to recognize those who have made a difference in the rare disease community, but we also want to inspire others with practical and applicable ideas of how they can make a real, lasting impact in the community.