The last day of February is known as National Rare Disease Day. It is time many people, advocates, and healthcare workers dedicated to raising awareness about conditions and treatments that often go under the radar.
One Metro Detroit woman used Thursday (Feb. 29) to share her personal story.
Kristin Freeman said her condition was discovered after getting checked out for what some call a common condition. It’s an issue doctors at Henry Ford Health have been pushing the envelope, working to find a cure.
“I’m one of the only people I know that’s had brain surgery,” said Freeman while waiting on an appointment at Henry Ford Health.
It has been a long road to recovery for Freeman. She’s a nurse by profession who has been living with a rare disease that was discovered as an adult.
“It was 2016 when I started having headaches,” Freeman said. “I was having headaches, like all day long, every day. They were disabling, and I couldn’t leave bed.”
Freeman knew she had to get it checked out. She went to the doctor and to the emergency room several times.
“I was like, ‘I need an MRI, something is not right,’” Freeman said.
Doctors found pituitary tumors. At first, she was told it was benign. But that situation got worse.
Freeman said, “About a year later, I noticed my shoe size was going up. My rings weren’t fitting anymore. So, I went to the doctor, and I was, like, can I get this thing out?”
Doctors later confirmed Freeman’s suspicions. She had acromegaly. It’s a rare disease that can cause abnormal growth of the hands, feet, and face. Acromegaly is triggered when your pituitary gland produces too much growth hormone.
“It can be very difficult with your joints,” Freeman said. “With your hands. Carpal tunnel. It can affect your liver and your heart. Every part of your body can be affected by this disease.”
Symptoms can come on slowly. So, it can be hard to see it at first.
“Many patients live with acromegaly and are not diagnosed until later stages of the disease,” said Dr. Karam Asmaro, a neurosurgeon with Henry Ford Health who specializes in pituitary and skull-based tumors.
Acromegaly occurs in 30 to 50 people per million, according to Asmaro.
“Acromegaly has been challenging to treat,” Asmaro said. “Surgery is the mainstay of the standard of care, first-line therapy, if you will.”
Asmaro and his colleagues have been working on research and developments. He said until a few years ago, surgical remission, or cure, for removing the invasive tumors was only about 50% successful. It is now 90%.
“Less than 10 years ago, some of this was considered inoperable,” Asmaro said. “We have come a long way, and we continue to push the envelope.”
Patients like Freeman also continue pushing the envelope. She’s finding ways to thrive while living with a rare disease.
“You have to really advocate for yourself,” Freeman said.
Freeman said she’s been helping to raise awareness about acromegaly. She’s part of an acromegaly support group at Henry Ford Health. She is also part of a Facebook support group with other acromegaly survivors nationwide.
Asmaro said it’s essential that medicine continues evolving and advancing.