The Liverpool Review: Rare Disease Day 2011
Liverpool Review: Day Set Aside To Acknowledge Rare Diseases
Day Set Aside To Acknowledge Rare Diseases
February 24, 2011
By Katie Schwendeman
(Editor’s Note:This story can also be found at the Liverpool Review.)
EAST LIVERPOOL - Last spring, East Liverpool resident Lisa Utt sat in her car in the parking lot of a local doctor’s office crying so hard she couldn’t drive home.
A visit to a local eye doctor confirmed she had one of two health problems-one that could result in complete loss of vision, or one that could result in death.
The doctor advised Utt her symptoms indicated the presence of either pseudotumor cerebri, or a brain tumor. The diagnosis came after visits to neurologists in East Liverpool and Beaver, Pa.
Utt, 23, said she initially went to the neurologists because she was having frequent headaches, and neck and shoulder pain, 
which implicated a brain tumor.
She also visited a local hospital, where doctors in the emergency room advised her the problem was due to a pulled muscle or stress, she said.
A chiropractor believed the symptoms were for that of a pinched nerve, she added.
Utt remembers waking up after sleep and not being able to see. Until last year, she never struggled with vision problems-she didn’t even need glasses or contact lenses.
“It would take 20 seconds before I could even see anything,” she said. “My vision was what I was most concerned about.”
She was officially diagnosed with pseudotumor cerebri in March of last year. The diagnosis only escalated her fears of vision loss.
Pseudotumor cerebri is a rare disease that literally means “false brain tumor.” It is also known as intracranial hypertension (IH), and is caused by the buildup or poor absorption of cerebrospinal fluid in the skull. Symptoms of IH closely mimic symptoms of a large brain tumor but, no tumor is actually present.
Emanuel Tanne, MD, and president of the Vancouver-based Intracranial Hypertension Research Foundation, said spinal pressure inside the skull typically affects the optic nerve, resulting in papilledema, and that if left untreated, can lead to progressive loss of vision.
Papilledema is a swelling of the optic disc caused by increased intracranial pressure.
Tanne said an eye examination is “very important” for someone with the same symptoms as Utt, since a swollen optic nerve is a tell-tale sign of the disease.
Utt said it was her visit to the optometrist that proved the most beneficial.
Little more than two weeks after that day in the parking lot, she had her first spinal tap.The experience was scary and painful, although it did relieve her symptoms temporarily, she said.
According to Tanne, a spinal tap is the “gold standard” for measuring intracranial pressure. Another spinal tap was later needed, and multiple CAT scans and MRI’s were ordered to monitor her vision, she said. She was also prescribed medication typically used for the treatment of glaucoma.
She explained that her frustration with finding the proper diagnosis was only compounded by the frustration of learning she had a disease that few medical experts knew much about.
“My biggest struggle with this disease has been the frustration of the unknown,” she said. “I have been in touch with many people all over the U.S. who have had a lot of the same difficulties as I have in getting information and answers about this rare disease.”
Thankfully, a teacher at Kent State University-East Liverpool, was able to locate a pseudotumor cerebri specialist in Cleveland. Utt is currently enrolled in the physical therapy assisting program at the college.The teacher, Lynn Davis, knew she was struggling with a health problem because she was having trouble reading the required textbooks due to her vision problem, Utt said.
She visited the specialist at the Cleveland Clinic recently and said her health has improved.
Although she is now required to wear contacts, she is not suffering from severe headaches and neck and shoulder pain.Symptoms of the disease can return, however, and medical research has yet to discover how the condition develops and why, she said.
She is concerned about individuals across the world struggling with other rare diseases.
“Nearly 30 million (about 1 in 10) have rare diseases. All of us know someone with a rare disease,” she said.
Utt would like for everyone to observe World Rare Disease Day, which is Feb. 28. She learned about Rare Disease Day through the Intracranial Hypertension Research Foundation.
“We felt an obligation to go ahead and try to stimulate awareness of the disorder, as well as research,” Tanne said. “The treatment has lagged for many years because nobody has ever developed a drug specifically to control the problem. It’s a disorder that has been around for a long time, and has basically fallen through the cracks in terms of medical research and funding for the research.”