Living With a Rare Spinal Cord Disorder
Increased Knowledge Can Lead to Better Diagnosis and Treatment
Sep 20, 2009
Nancy Malachowski, of Ontario, Canada, was experiencing the sudden onset of pain and other symptoms soon to dominate her life.
Nancy has syringomyelia (sear-IN-go-my-EEL-ya) or SM, a rare disorder in which a cyst, called a syrinx, develops in the spinal cord. Cerebral spinal fluid that normally flows around the spinal cord leaks into the tissue and can destroy it.
Rare Disorder Often Misdiagnosed
For many living with this disorder, Nancy's story has a too familiar ring. The symptoms of syringomyelia can be the same as those of many other disorders and diseases. Unless it is spotted on an MRI scan, it is easily mistaken for something else.
In an internet profile Nancy writes, "By the time I got home that night, I had lost the feeling in my hands and feet, except for the occasional pins and needles. I was nauseated. I thought it was a really severe migraine, and that I could just sleep it off. I could not. I went to the hospital and was told that it was just a migraine, given a shot of Demerol, and sent back home."
Her nightmare was just beginning. "A specialist of internal medicine told me nothing was wrong, but he would arrange for an MRI of my head. The appointment for the MRI was for nine months later. - I got my MRI and diagnosis earlier because I had a sister-in-law who worked in the Medical Imaging Department of a large hospital and, thank goodness, she got me a middle of the night appointment within two weeks.
"I knew that I needed more than an MRI of my head, as there was something going wrong with my body. My family doctor, who has been so supportive throughout this, listened to me and ordered an MRI of my entire spine and head. My family doctor got the results and told me what it was, but did not know what to do about it."
Nancy began looking for information and specialists who could treat her, " I did some research and found out about Dr. Tator in Toronto, who was a neurosurgeon that had dealt with patients with syringohydromyelia and asked for a referral to him. It took almost a year to get in to see him"
Finally, she had a diagnosis, a very grim one, and says, "I have a syrinx cavity extending from C3 (mid-neck) to the conus (lowest point of the spinal cord), with significant degenerative disc disease and spinal cord compression." The evaluation was unable to determine how or why the syrinx formed.
Symptoms Started Decades Ago
For Nancy, now forty-seven and mother of two grown children, the symptoms began in high school. She suffered intense back pain following an accident. Years later, she experienced severe stabbing pains in her head after her daughter's birth. She lived in a small town, MRIs were not available, and the doctors thought she might have encephalitis, inflammation of the brain from a virus.
She developed migraines and learned to live with the chronic pain that became a feature of her everyday life. As she now knows, had her doctors pursued further evaluations, obtained an MRI, she may have been diagnosed and treated much sooner.
Surgery Does Not Offer Cure
Four years after the horrible pain took over her life, Nancy is waiting to have surgery. Surgeons intend to repair bones in her neck, which may alleviate some of the pressure on her spinal cord. Unfortunately, they can do nothing for the syrinx.
Surgery has many failures and complications. Sometimes, decompression of the spinal cord leads to improvement. The destruction of the spinal cord is not predictable. The syrinx may stabilize for long periods or it might worsen suddenly without warning. Occasionally, a syrinx may resolve on its own or an unsuspected cause is recognized and successfully treated. In cases like Nancy's, little can be done and her future is uncertain.
Finding a Caring Community
Support and understanding for people with syringomyelia can be difficult to find. So few people develop it, doctors often do not recognize or understand the symptoms. Patients, like Nancy, are often misdiagnosed for years and the cause of the syrinx may never be known.
On Facebook Nancy met Carion Fenn, of Toronto, who also has syringomyelia. "She and I decided that we needed somewhere for people like us, who had been diagnosed with syringomyelia, to be able to get some answers and support. We talked about what we could do and decided to start our own Facebook site, and then a website. At that point in time my health had really deteriorated, and thank goodness my dear friend, Carion, was able to get things up and going."
Fenn, an interior designer, who developed SM following an automobile accident, founded The Syringomyelia Awareness Social Network. The group’s purpose is to increase awareness about syringomyelia while providing support to those who have it and their loved ones.
The network has members throughout the world, including India, Denmark, and the United States. Members (it's free to join) share support and information to educate themselves and the medical community. At least one doctor is a member of this vibrant group.
Carion Fenn applied her gift for design to developing what has evolved into a warm and caring community network for those contending with this little understood condition. The website offers many resources for information, news, research, and support.
Through her active involvement with the Syringomyelia Awareness Network, Nancy Malachowski shares support as she receives it from others living with this devastating disorder.
Relate Link:
Sources:
American Syringomyelia Alliance Project (ASAP)
Goetz, Lance, MD; Post Traumatic Syringomyelia
emedicine.medscape.com/article/322348-overview; updated: Jan 26, 2007
National Institutes of Health
NINDS
Resources:
American Syringomyelia Alliance Project
Syringomyelia Awareness Network
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