Since birth, Julie Frazier has adapted to a world that, for the most part, is geared for the able-bodied: people who walk with two feet, can use both arms and are able to communicate their needs.
She was born with club feet and could always flex her joints in odd, contortionist fashion. Now and then she had to sit out of physical education classes when an elbow, knee or hip joint went awry, but the Fort Wayne woman says, “I never knew anything else. I didn’t realize something was wrong. Doctors said it was growing pains.”
But several things were very wrong in Frazier’s body, though it took years for doctors to finally diagnose her rare condition: Ehlers-Danlos syndrome or EDS. It is caused by mutations of the genes that affect collagen in the body. Collagens give structure and strength to connective tissues. Thus EDS weakens tissue in the skin, bones, vascular system, eyes and other parts of the body.
Six variations of EDS have been pinpointed, according to the National Institutes of Health. The classic form affects an estimated one in every 20,000 to 40,000 people worldwide, and the vascular form is rarer, affecting just one in 250,000 people.
Those early symptoms in Frazier, now 39, were classic EDS symptoms: hypermobility, or very loose, and painful joints, and Frazier points out, “Many people with EDS are born club-footed.”
Still, time after time, when Frazer asked doctors through the years about her joints, most just shrugged their shoulders. Then, in the early 1990s, the migraines started, gradually getting more severe. At their worst, they began causing temporary paralysis of one half of her body and deep fatigue. Some doctors thought perhaps she had epilepsy or another seizure disorder, but EEGs of her brain showed no seizure activity.
“First, I have the prodromal phase… the sweet cravings and things — then the aura. The slurring of my speech is part of the aura. Then the migraine, the severe pain hits, and the paralysis. I cannot speak. I cannot move.” These migraines are called hemiplegic migraines.
Frazier was having them multiple times a month and was prescribed several different medications. Then in September 2008, an extreme migraine, the worst she’d experienced, struck her down. For about an hour, she was partially paralyzed, confused and unaware of her surroundings. When she could again move all her limbs and slowly regained a feeling of normalcy, the sound of a voice she had never heard before echoed in her head.
“I wondered who that was,” she recalled. The voice sounded odd, slurred, as if it were spoken by someone from another country. Then she realized it was her own voice.
That devastating migraine caused another extremely rare condition for Frazier called foreign accent syndrome. The speech center of the brain was affected. According to experts at the University of Southern California, the most common causes are stroke; a trauma, such as a sharp blow to the skull; hemorrhage in the brain; and multiple sclerosis.
The individual isn’t really speaking in a foreign accent, but the distortion of rhythm, intonation and lengthening of vowels or consonants produce what sounds to the listener as an accent, often from a specific country, even though the individual has never visited the country and is unfamiliar with the language.
“To me, it just sounds like I’m slurring my words,” Frazier said. However, to most people it sounds as if she has a British accent. But she says her accent changes the more fatigued she gets, noting with humor that her family sometimes never knows what nationality they may come home to.
Five months of intensive speech therapy helped Frazier somewhat improve the way she talks. Still, she wonders if she will always retain what to her is “a voice that is not my own.” Some with the condition regain their normal voice over time. Dr. Paul Bustian at IU School of Medicine in Indianapolis, finally diagnosed hemiplegic migraines.
At the point in 2008 when the onset of foreign accent syndrome started after the severe migraine her EDS had not yet been diagnosed. That came after surgery last spring. The surgery in Fort Wayne went well, but, a day after, she suffered massive internal bleeding and was taken back to surgery.
The surgeon expected to find a “bleeder” or several specific spots of leakage in blood vessels, but he told Frazer he was shocked to find instead she was oozing blood from all the small vessels. She was referred to IU’s Hemophilia and Thrombosis Center, where doctors finally connected the dots that these symptoms were related.
In her journey before the accurate diagnosis of EDS, Frazier was told by some doctors that the speech changes were due to a psychiatric disorder. They failed to look at the whole picture, the entire spectrum of symptoms, an all-too-common situation with rare disorders, she says.
Although fewer than 100 cases of foreign accent syndrome have been documented around the world, Frazier is finding understanding and hope through an online support group for those with the diagnosis. Like Frazier, many have a history of severe migraines.
Frazier also is part of an online support group for people with EDS and is helping advocate for others with various rare disorders through a new nonprofit called R.I.D. (Rare Illness and Disability) Alliance.
Though she has found some answers, the future remains uncertain. People with EDS are at higher risk for stroke. But Frazier is grateful for her supportive family and for “a terrific family doctor and pain management doctor” who listen, care and learn along with their patient.
“So many people with rare, unusual and ‘invisible’ conditions do not have these things, so my hope in reaching out is to help others gain the support systems they need and deserve.”
Another blessing is Lucie, Frazier’s chocolate Labrador retriever. Lucie has been around Frazier since she was a small puppy and now senses when a migraine in her owner is coming on. The dog nudges Frazier to sit or lie down, sometimes even taking Frazier’s wrist in her hand and leading her to the couch.
For people who genuinely know something is wrong but can’t find a doctor who will listen, “My message is to keep trying. Find a medical advocate. Sometimes you feel you are alone. I felt that way. But you’re not alone. Get on the Internet. Get connected to people who are going through the same thing. Just don’t give up.”
Individuals or families with similar frustrations in getting help for rare or complex disorders can contact Frazier at firstname.lastname@example.org.