February 21, 2013
June Yvonne Coleridge is grateful for an accurate diagnosis made by neurologist Islam Abujubara, MD.
If people were machines with instruction books and interchangeable mechanical parts, treating disease would be easy. But life's not like that, and it's the complexities of human health, the mysteries of medicine, that keep the best doctors enthusiastically engaged in practice.
It starts with the challenge of diagnosis. So many diseases have similar symptoms. Sometimes doctors have to be detectives to unearth the key to effective patient care.
Ask John C. Lincoln neurologist Islam Abujubara, MD. He recently treated two patients who floundered with physical problems for decades without a correct diagnosis. "Paying attention to the patient's story to make sure we are not missing a treatable disease can be lifesaving," Dr. Abujubara said.
More than COPD
A perfect example is Victor Kunisada, who had asthma all his life. In his 40s, he was diagnosed with COPD, an assortment of respiratory issues. He was treated for the next 20-plus years with bronchodilators.
"Theophylline and albuterol helped Mr. Kunisada breathe," Dr. Abujubara said. "But COPD was not his only disease, so those medications never resolved his problems."
Victor's true diagnosis is a rare autoimmune disorder called myasthenia gravis, Dr. Abujubara said. In this disease, antibodies cause progressively worse muscle weakness.
Victor came to the Emergency Department at John C. Lincoln North Mountain Hospital because his "ability to breathe was bad, and then my speech got slurred and I couldn't swallow," he said.
"His symptoms are all manifestations of myasthenia gravis, which is treatable," Dr. Abujubara said. "The fact he had to stay on a ventilator for many days — eight times in the past — made me question the strength of his breathing muscles."
With the proper diagnosis and treatment, Victor says his health is better. But he has a long way to go before he can again play basketball or softball, or bowl in a league.
He does have enough energy to hit the casinos or play cards at a favorite hangout. "They always make a serious effort to watch out for my health," he said. "And I can now swallow and eat. So I'd say things are going fairly well."
Rare Disease Diagnosis
June Yvonne Coleridge echoes Victor's hopeful sentiments. Like him, she suffered for decades with a very rare disease that wasn't diagnosed until she came to North Mountain Hospital. She's been told she had multiple sclerosis, but that didn't explain the stroke symptoms that sent her to the Emergency Department, where she met Dr. Abujubara.
"She has a history of migraine and cognitive problems in addition to ischemic stroke, which are hallmarks of her disease," Dr. Abujubara said. "After genetic testing and reviewing the MRI of her brain, I was able to diagnose her disease as CADASIL: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy."
While that's not good news — the disease is hereditary vascular dementia currently without a cure — June says having a diagnosis is a relief. "It's scary, but it feels better to know what's going on. I'm going to participate in clinical trials with Brown University, so maybe I'll be part of finding a cure."
She's also going to make sure her son is tested because CADASIL is genetic. In the meantime, she hopes to return to outdoor activities, socializing with her book club and spending quality time with her large extended family.
Learn more at JCL.com/neurosciences.
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