Rare Disease Education: Syringomyelia
Editor: Kelsey LaFayette, DNP, RN, FNP-C
"When you hear hoofbeats, think of horses, not zebras,” is a common saying in medical education that means you should think of common conditions first, instead of rare ones, in making a diagnosis. “Rare” is a relative term though and about 7,000 rare, or "zebra," conditions affect more than 350 million individuals worldwide. Although these conditions collectively affect an enormous number of people, each of these conditions individually is rare enough that it can be difficult to secure the resources to study them and to develop treatments and cures. Likewise, awareness of rare conditions may be low and health care professionals may not be familiar with their signs and symptoms making it more difficult to reach a correct diagnosis and provide effective treatments.
To increase knowledge about rare conditions, Osmosis and the National Organization for Rare Diseases (NORD) have collaborated on an initiative to bring education and awareness to the public. We are excited to be a part of this initiative because we believe everyone deserves quality health care, no matter how rare their condition.
Zebra of the Week: Syringomyelia
The smooth flow of a river along its path allows everything around it to act as intended; whole ecosystems can flourish on its banks along either side. If, for instance, a massive rockslide were to block the flow of water, it would pool behind the obstacle and cause damage to any structure that happens to be in its expanding path. This is similar to what happens when syringomyelia, today’s zebra, is caused by the brain abnormality called the Chiari malformation.
The cerebrospinal fluid flows in the spinal canal and all around the central nervous system. Syringomyelia is a rare condition characterized by a fluid-filled cavity or cyst known as a syrinx that forms within the spinal cord. This syrinx can expand over time compressing or destroying the surrounding nerve tissue, leading to symptoms such as pain, burning, tingling, or numbness in the affected areas especially the upper limbs and torso. Muscle weakness and wasting may progressively occur, leading to paralysis in severe cases. Particularly in children, who are in a growth phase, skeletal abnormalities such as scoliosis may arise.
The symptoms are usually most prominent between the ages of 20 and 40 years. Diagnosis is usually clear on magnetic resonance imaging (MRI).
To learn more about the mechanisms and treatment of syringomyelia, watch the dedicated Osmosis video on YouTube and Osmosis.org
Meet Dr. Miguel
As our Year of the Zebra focus on rare diseases continues, we’re putting several neurological conditions in the spotlight on the above Raise the Line Podcast Episode. Their symptoms include neck pain, vertigo, swallowing issues, memory trouble and many more: idiopathic syringomyelia; idiopathic scoliosis; and the Arnold-Chiari Syndrome type 1 caused variously by cavities in the spinal cord and brain herniation.
Fortunately, our guide is one of the world’s leading experts in this area, Dr. Miguel Bautista Royo-Salvador, Director of the Institut Chiari & Siringomielia & Escoliosis de Barcelona, and President of the Chiari and Scoliosis and Siringomielia Foundation. In his fifty-plus years of focus on these conditions, Dr. Royo-Salvador has alternated between research activity and clinical practice in which he applies a treatment method he developed called the Filum System. Inventing this new approach was sparked by a patient who experienced very little improvement from what was the standard surgical treatment at the time. “I have come to the conclusion that an abnormally intense caudal traction of the entire central nervous system is the cause of the descent of the cerebellar herniation in Chiari Syndrome type 1, as well as of scoliosis and syringomyelia and others. To speak figuratively, it's like a pull from below on the whole central nervous system,” he explains to host Michael Carrese.
After 2,100 procedures with a subjective improvement rate of 95%, Dr. Royo-Salvador and the Institute are working to broaden awareness of this minimally invasive approach. Tune-in for an educational journey into these rare conditions and a proven technique to relieve patient suffering.
Meet Paul Farell
Paul’s story started with a malignant tumor inside his spinal column called an ependymoma. After a surgery to remove the tumor, Paul sneezed and suddenly lost all feeling around his chest area and had difficulty walking. For years, he went through his own rare disease ordeal of missed diagnoses and continued feeling like there was something more going on, something that did not fit.
He was eventually diagnosed with syringomyelia but its complications resulted in him being confined in a wheelchair. Paul is still passionate about sports and with the help of specialized equipment, he can still play golf on the fields of his state park.
Listen to him tell his story above and teach us that a rare disease is not just something you are born with, but can happen to anyone at any moment.
Organization Taking Strides
The C&S Patient Education Foundation, informally known as Conquer Chiari, has been a prominent organization in the world of neurological disorders, specifically focusing on Chiari malformations and syringomyelia.
Since its inception in 2004, the foundation has been an effective platform for patients, caregivers, and researchers alike. With regards to patient and family education, they've developed a range of resources, including 40+ informative posters & handouts, 12+ presentations and a book called "Conquer Chiari: A Patient’s Guide". They have also shared over 50 personal stories to provide an intimate look into the lives of those affected, reducing the feeling of isolation that comes with rare diseases.
The foundation organizes public events such as their Walk Across America initiative that has involved over 100,000 walkers since its start and professional events such as research conferences.
When it comes to research, Conquer Chiari is the one of the world's largest NGO funders of Chiari-related research, having provided more than $4.1 million in grants. These grants have not only generated over 70 published, peer-reviewed journal articles but also paved the way for additional NIH Chiari-focused research grants. The foundation established the world's first multi-disciplinary, independent Chiari-focused research facility, known as the Conquer Chiari Research Center.