COVENTRY, RI — Heather Marcoux would rather be the life of the party than facing a more than decade-long battle with a rare medical condition known as Chiari malformation.
“I used to work at the bank and be the life of the party,” said Marcoux, a 1988 graduate of Coventry High School. “I love everybody and I’m the happy-go-lucky type who would talk to everyone and know everyone.”
But more than a decade ago, Marcoux was diagnosed with type 1 of Chiari malformation, a condition in which the brain tissue extends into the spinal canal. There is no known cure for the condition, and Marcoux has endured several surgeries to relieve the pressure on her brain and spinal column.
Today, Marcoux can’t work and has a much smaller group of people she can call on for support.
“It steals everything from you,” said Marcoux, adding that not many people want to hang out with someone who never knows how they are going to be feeling the next day.
“If my friends see me on Facebook past 8 p.m., they will joke that I am up past my bedtime,” said Marcoux.
Chiari malformation is uncommon, but increased use of imaging tests has led to more frequent diagnoses, according to the Mayo Clinic’s website. Chiari malformation is categorized into three types, depending on the anatomy of the brain tissue displaced into the spinal canal and whether developmental problems of the brain or spine are present.
The Chiari malformation type 1 that Marcoux has develops as the skull and brain are developing. As a result, signs and symptoms may not occur until late childhood or adulthood.
Types 2 and 3 of Chiari malformation are congenital and present at birth.
Marcoux’s Chiari journey began a little over a decade ago when her daughter, Chelsea, who was 14 at the time, was diagnosed with Chiari malformation.
Given the relative rarity of Chiari diagnoses, especially at that time, Marcoux said it was a struggle to get her daughter properly diagnosed.
“We kept going back and forth to Hasbro Children’s Hospital to get a diagnosis,” said Marcoux. “One doctor told me it was all in her head. There was not a lot of information about Chiari then.”
Eventually, they did find a neurosurgeon who diagnosed the symptoms as Chiari malformation and performed decompression surgery to help relieve the pressure on the spinal column.
But that was far from the end of the story for Marcoux.
“After my daughter’s surgery, I went back to work, but then I started to have issues,” she said. “I had eye issues, I felt like I was going to black out and I was tired.”
When the MRI results came in, Marcoux wasn’t surprised to hear that she had the same condition as her daughter, and the same neurosurgeon who performed the decompression surgery on her daughter operated on her.
One of the biggest challenges of Chiari malformation is that the symptoms and medical issues widely vary for those with the condition.
For Marcoux, some of those comorbid symptoms include hydrocephalus and a pseudotumor, which is basically Marcoux’s brain tricking her into thinking she has a tumor.
“There are so many comorbid issues that you don’t know what is making you sick and there is no cure,” said Marcoux, adding that surgery is the only way to alleviate the pressure and the symptoms.
Still, Marcoux is someone who is still able to look at the positive side of her situation, even as she knows it is a struggle.
“I was lucky that with my symptoms, I was able to receive disability,” she said. “For younger people, it can be hard to prove that they have symptoms.”
Due to the rarity of Chiari malformation, it can also be hard to find other people who are going through what she and her daughter have to endure, said Marcoux. However, there are several online support groups she has joined, and has even flown across the country to personally meet others with Chiari malformation she has grown close to online.
The best source of information, support, and research for Chiari malformation is the Conquer Chiari organization (conquerchiari.org) out of New York state, which sponsors an annual Conquer Chiari Walk Across America every September.
While many states have Chiari walks in September, which is Chiari Awareness Month, Marcoux said there has yet to be one in Rhode Island.
“Next year in April, I want to start getting together with people so that we can do a walk in Rhode Island next year,” Marcoux said.
The most important thing Marcoux said she can do now is get out the word about the toll Chiari malformation can have on those who struggle with it every day and their families.
“It can affect people at any age, from newborns to older people, and while it is primarily women who have it, it can affect men,” she said. “Once you have it, you are never the same. You don’t really have a choice and it can lead to bad outcomes once the symptoms start progressing.”
Chiari malformation will continue to be a challenge Marcoux deals with every day, but she said she can try to control how it impacts her life.
“I can choose to have my cup half full and have a good attitude,” she said. “I have to be grateful and try to find the little positive things every day.”
This is a test