February 28th is
known as Rare Disease Day. This day is coordinated by EURORDIS to raise
awareness amongst the general public and decision-makers about rare diseases
and their impact on patients’ lives. Wondering what makes a disease “rare?” A
disease or disorder is defined as rare in the USA when it affects fewer than
200,000 Americans at any given time.
So in the spirit of Rare Disease Day, I
wanted to update you all on my rare disease, syringomyelia. I know many of you
have been followers of my blog since I was diagnosed in 2011, but some of you
are new and don’t have as much information about Syringomyelia as you perhaps
would like. This blog entry is dedicated to letting you all know about this
rare disorder and spread awareness.
Syringo-MY-Whatia?
Syringomyelia is pronounced
(sear-IN-go-my-EEL-ya). We often call Syringomyelia SM for short. SM is the
buildup of fluid inside the spinal cord due to many causes. It can be caused by
a blockage due to a Chiari Malformation (CM), trauma, tumors, and other causes.
When you are unsure of the origin of the Syringomyelia, they call it
“idiopathic.” I have Idiopathic Syringomyelia.
What makes Syringomyelia “rare?”
Duke University conducted an analysis
which estimates between 100,000 - 200,000 people in the US may have
syringomyelia.
What are the symptoms of Syringomyelia?
Symptoms develop slowly over time, but can
come on suddenly after a fall or minor trauma. Sensation may be affected first.
Some common symptoms include:
· Loss
of sensitivity to pain and temperature
· Numbness
and tingling
· Bowel
and bladder function may be affected
· Scoliosis
· Pain
in your neck, arms and back
· Muscle
weakness and wasting (atrophy)
· Spasticity
· Paralysis
(in severe cases, quadriplegia)
· Loss
of reflexes
· Stiffness
in your back, shoulders, arms and legs
· Muscle
weakness and spasms in your legs
· Facial
pain or numbness
Scoliosis may be the only symptom in
children. Often people with scoliosis undergo spinal MR imaging because of an
atypical left-sided thoracic curve.
Many individuals suffer from chronic pain
and some will develop neuropathic pain syndromes. This type of pain is
difficult to treat. A large percentage of people have headaches which can be
severe.
How is Syringomyelia diagnosed?
To diagnose syringomyelia, your doctor
will begin by asking about your medical history and doing a complete physical
examination.
If your doctor suspects syringomyelia,
you'll likely undergo a magnetic resonance imaging (MRI) scan of your spine and
spinal cord. An MRI is the most reliable tool for diagnosing syringomyelia.
How do I cope with having Syringomyelia?
Living with Syringomyelia and the
complications it brings can be very challenging. For me and others I know with
the disorder, coping has been very difficult. I am not able to do the things I
have in the past nor can I have new adventures (like skydive) due to the
disorder. Sometimes it feels like a life sentence without the possibility of
parole. Chronic pain affects my everyday life and sometimes keeps me from my
loved ones. This breaks my heart and I wish it were different.
I was diagnosed in 2011 and I started
searching for support almost immediately. I needed to know that someone was out
there who understood what I was going through both physically and emotionally.
My family was a great support, but no one had ever dealt with the disorder
before my diagnosis. I found several groups on Facebook, through the
foundations supporting syringomyelia, and through friendships with others
affected.
If you have been diagnosed with
Syringomyelia, or any other rare disease, I encourage you to find support. You
may not want to reach out to strangers, but I urge you to find a way to cope.
This disorder is not easy to live with and it’s important to know, you don’t
have to do this alone.
Portions of the above information were
gathered by visiting these websites:
