Saturday, May 18, 2013
Staff Photo by Shawn Patrick Ouellette: Erin Ruiz with her children Sofia, 10, left, and Cristian 7, at their North Yarmouth home Monday August 11, 2008. Ruiz suffered for years from a condition called Chiari syndrome. She is trying to raise awareness on Chiari and is concerned her children may have inherited the problem.
The headaches started back in high school. Then came the palpitations.
By the time Erin Ruiz went to college, she was experiencing extreme muscle weakness and intense pain. She couldn't swallow -- not even water.
Ruiz got dehydrated and ended up in the hospital for 14 days. Doctors told her she had precancerous cells in her esophagus. They didn't know what was causing it, but it could be serious.
''I went and traveled the world, because I thought I was dying,'' said Ruiz, who lives in North Yarmouth. ''I went to visit my sister in Seattle, and then I went to Ecuador and lived there for three years.''
But that was just the beginning of Ruiz's journey. Over many more years, through more puzzling symptoms and uncertain diagnoses, she searched for a solution to her health problems.
The answer was not what she expected: She had Chiari malformation, a neurological condition in which the cerebellum -- the bottom part of the brain -- descends out of the skull and puts pressure on the brain and spinal cord.
Now, after Ruiz's diagnosis and surgery last May, the 35-year-old is eager to help spread the word about Chiari malformation to others. A national nonprofit patient education group, Conquer Chiari, is sponsoring a Walk Across America on Sept. 20, and Portland will be one of 20 sites across the country to raise awareness of the problem as well as funding for research. Ruiz is organizing the local walk, which will be held at Back Cove.
But how do you recruit people to walk for a condition they've probably never heard of because it's received so little public attention? ''It's really hard, because it's not a well-known thing,'' Ruiz said.
According to the National Institute of Neurological Disorders and Stroke, Chiari malformation can be genetic, caused by structural defects that occur during fetal development, or acquired later in life. Scientists once thought the condition occurred in one out of every 1,000 births, but in recent years, advances in diagnostic imaging have revealed that it may be much more common.
Dr. Paolo Bolognese, Ruiz's physician at the Chiari Institute in Great Neck, N.Y., said until the late 1990s, Chiari malformation was still considered a rare condition. Now every time scientists try to calculate the incidence rate, ''it goes up and up.''
''The disease has skyrocketed,'' Bolognese said, ''and is now one of the up-and-coming diagnoses.''
Symptoms of Chiari malformation can show up any time, and are confusing for both doctor and patient. As with many neurological issues, symptoms run the gamut, and can be mild or intense. People have reported balance problems, numbness in the arms or legs, dizziness, neck pain, depression, muscle weakness, vision problems, a ringing or buzzing in the ears, and other symptoms.
Difficulty swallowing is a common symptom, and in Ruiz's case led to the discovery of precancerous cells and more confusion. But those precancerous changes, which are no longer an issue, were not a direct effect of the Chiari, Bolognese said.
''With difficulty swallowing, sometimes you can have some reflux of acid, and yes, it can waste the mucosa and give some precancerous changes,'' he said. ''But it could have happened by her ingesting hot soup every day of her life. So it was a nonspecific effect, and sometimes tends to be overcalled.''
Ruiz's symptoms got worse before they got better.
When she returned home from Ecuador, she had a daughter, Sofia, now 10.
''After that, I started to get sick again -- really, really monstrous headaches,'' she said. ''I couldn't focus on anything.''
None of the drugs prescribed for her seemed to help, and over time, her tolerance to the headache pain began to rise.
''I ended up marrying and having a boy,'' Ruiz said, referring to her son Cristian, now 7. ''Right after that, I dealt with a lot of depression, and they thought maybe it was post-partum depression.''
But the other symptoms continued, including muscle aches and chronic fatigue, and the daily headaches came back with a vengeance. In 2003, Ruiz started hearing her heartbeat in her right ear. ''To hear it 24-7, every single second that you're alive, oh my god. It drove me insane.''
Ruiz began to worry she was looking like a hypochondriac to family and friends, as she was constantly complaining about physical troubles no one else could understand.
Rick Labuda, an electrical engineer and executive director of the Pittsburgh-based Conquer Chiari, said many Chiari patients have trouble getting a firm diagnosis, partly because the wide-ranging symptoms can be attributed to so many other things. A definitive diagnosis comes only with an MRI, he said.
''It's starting to improve a little... but if you look at the research, the average time to diagnosis is five years or more,'' Labuda said. ''One of the more troubling aspects of that is that this one study -- this is a published medical study -- found that among 300 Chiari patients, more than half have been told at one time by a physician that they were suffering from a mental or emotional problem and there was nothing wrong with them physically, which of course later turned out to be not true.''
Frustrated by the lack of a comprehensive diagnosis after visits to many doctors, Ruiz went online and eventually found the Chiari Institute and Bolognese.
Around that same time, Ruiz began to lose her eyesight. It started with her right eye. Everything would ''go black'' and then shortly afterword, her sight would return. But in late fall 2007, she lost sight in both eyes for about 20 minutes.
She traveled to New York for diagnostic imaging and other tests. Bolognese told her she had a very small cyst forming on her spinal cord. In Ruiz's case, the cyst was still so small, it hadn't damaged her nerves and didn't require a separate surgery. But some Chiari patients are not so lucky.
Such a cyst is called a syrinx, Labuda said. It's a potentially serious problem in which fluid builds up inside the spinal cord.
''Imagine a balloon in the middle of your spine being slowly blown up over time, and it just causes tremendous pain and damage to the body,'' Labuda said. ''People who have that tend to have much poorer outcomes, because that causes nerve damage.''
Ruiz also had ''tethered cord syndrome,'' a condition she was born with that's related to Chiari malformation. The spinal cord is attached to the bone by a band called the filum terminale, Bolognese explained, ''but in certain people, that little structure becomes too tense, and instead of just loosely anchoring the cord, it's kind of pulling it down.''
As Ruiz grew, her spinal cord began to stretch abnormally, worsening her symptoms. ''It was pulling my brain stem into my spinal canal,'' she said.
AFTER SURGERY, RELIEF
In May, Ruiz underwent a seven-hour surgery at North Shore University Hospital in Manhassett, N.Y. About two weeks after the surgery, once the pain from the procedure itself started to subside, she began to notice a difference in her health.
''I didn't have headaches for three days straight,'' she said. ''It was awesome, I couldn't believe it. And I felt better. I still have a little bit of palpitations.''
Labuda said that's common. Research shows that 80 percent of people with Chiari malformation improve with surgery.
''That doesn't mean all their symptoms go away,'' he said, ''and unfortunately, for many people, after five or 10 years, things will come back. I don't want to overstate the problem. There are quite a few people who have the surgery and feel really good. But it's kind of a mixed bag right now.''
Bolognese said that after surgery, patients feel ''significantly better most of the time.''
Ruiz will know more about how she's doing after she has another MRI scan. She's been on bed rest for the past two months, and is being aided in her recovery by an online network of families in the Cumberland/North Yarmouth area.
''They delivered meals,'' Ruiz said. ''They were amazing. They put out an all-network e-mail, and they have got a bunch of walkers for me'' for the September walk.
Patients like Ruiz who become determined to get the word out are raising awareness of Chiari malformation, Bolognese said. One patient in Montana bought 200 copies of educational videos and distributed them to every family practice physician in the state. As a result, Montana is now the state ''with the fastest recognition time for the disease,'' he said.
''Patients like her are at every corner, so recently they are writing to their congressmen,'' Bolognese said. ''Many towns across America during the course of the last month had a Chiari recognition day. They're very proactive.''
Ruiz isn't sure she'll be able to complete the entire Back Cove walk herself, because she's only supposed to walk 15 minutes a day. But working on the Conquer Chiari walk has introduced her to a few others in Maine who have the condition -- they plan to start their own support group -- and it has given her something to focus on in her recovery.
''I really have this passion now,'' Ruiz said, ''and since I've gone through hell for the past I don't know how many years, I'm ready to get out there and really be an advocate and educate people.''
Staff Writer Meredith Goad can be contacted at 791-6332 or at:
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Staff Photo by Shawn Patrick Ouellette: Erin Ruiz at her North Yarmouth home Monday August 11, 2008. Ruiz suffered for years from a condition called Chiari syndrome. She is trying to raise awareness on Chiari and is concerned her children may have inherited the problem.