Former Redondo Beach waterman falls to Stiff Person Syndrome
Steve Atherton in 2009. Prior to his illness he was an avid camper. Photo courtesy of the Atherton family
(Editor’s note: the author is Steve Atherton’s sister)
Steve Atherton, 27, spent his childhood excelling in sports. He was a Little League all star and played soccer for the Slithering Snakes and the Lethal Leopards. He snowboarded, surfed and skated for ET Surf. He rode BMX bikes and rollerbladed, camped and fished, hiked and climbed. He played varsity golf in high school and played on the El Camino College team.
Today, his snowboard is collecting dust on a shelf in the garage. His wetsuits are crispy and deteriorating. His golf clubs are a decorative feature. His skateboards and surfboards are retired. He is left with just their memories.
His days are consumed with sleeping and pain. He frequents doctor’s offices and hospitals where he is poked, prodded and scanned.He was granted permanent disability two years ago.
He is a prisoner in his own body, consumed by a rare, one-in-a-million autoimmune disease called Stiff Person Syndrome.
In 2012, Atherton visited Lake Mead and came home with what he assumed to be heat exhaustion. Over the following months, his illness progressed. He learned he had an extremely resistant stomach bacteria. Along with the bacteria came gastroparesis, a disorder that slows or stops the movement of food from the stomach to the small intestine. Weight loss and vomiting ensued. He lost 120 pounds in a 10 months.
Doctors and specialists were stumped. There were many misdiagnoses, including Cushing’s and West Nile Virus. He was tested for cancer, Multiple Sclerosis, HIV, hepatitis – doctors wanted to rule out all that they could. He had blood tests, spinal taps, liver and muscle biopsies and PET scans.
He was stuck with a needle to check his muscle reaction. The needle was completely bent due to aggressive involuntary muscle flexion. Atherton also developed a NASH liver. Non-alcoholic steatohepatitis (NASH) causes the liver to swell and become damaged.
In attempts to find a diagnosis, Atherton Steven visited USC, UCLA and the Mayo Clinic in Arizona. After years of dead ends, Atherton saw a neurologist at USC in 2014. The doctor, being familiar with Stiff Person Syndrome (SPS), ran a test. Atherton tested positive for the all-telling GAD65 antibody, and it was way off the scales.
It wasn’t the news he wanted to hear. There is no cure for this secretive disease. Only a slowed progression can be expected. Most days he is in bed, in pain, unable to do much at all. Flex your bicep. Now hold that flex as long as you can. That’s what his body is doing all day long, every day.
He has trouble walking. His toes are contorted in a flexed, upward position.
Atherton is currently undergoing IVIg treatments. He sits for hours each visit, receiving treatment two times every two weeks. IVIg is a sort of plasma transfusion that helps to stop the GAD65 antibodies from attacking the part of his brain that plays a role in his central nervous system. Each bag of plasma is comprised of the plasma from 1,000 to 15,000 donors. He takes neuropathy medications, and muscle relaxants.
A Go Fund me page has been set up.To help with Atherton’s care,
If you cannot afford to donate, a plasma donation would helps because it is what is keeping my brother going right now. The process takes two to three hours. Some locations even pay $20 to $40.
If you cannot share plasma or monetarily, take a moment to pray. If you do not pray, just hug the person nearest you and tell him or her that you love them.
To donate visit GoFundMe.com/2mjqajg.
For more about Stiff Person Syndrome visit StiffPersonSyndrome.info. ER
Steve Atherton and his sister Alina at the beach last May. Photo courtesy of the Atherton family
Stiff Person Syndrome
In the United States, a rare (or orphan) disease is defined by the National Organization of Rare Diseases (NORD) as a disorder affecting fewer than 200,000 Americans (approximately 1 in 1,500 individuals). One such rare disease is believed to affect only 1 in 1,000,000 individuals, worldwide.
The orphan known as Stiff Person Syndrome (SPS) is believed to affect only one in a million individuals, worldwide. It is characterized by rigidity and / or spasticity of the skeletal muscles, tremors, and anxiety. The result of constant spasms is unrelenting pain and commonly, eventual disability.
As SPS progresses, virtually no muscle is spared from spasms, and these may be violent enough to result in torn muscle tissue or broken bones. Frequent falls are common among those with SPS. These falls can be serious due to an inability to react, and muscles may become rigid during the crisis. Unique to SPS is a hyper-excitability of the muscles, known as the startle response. Emotional stress, a sudden, unexpected noise, or even a gentle touch, are known to trigger a Myoclonic Seizure of prolonged, severe spasms, and extreme rigidity.
Average time to diagnose the disease is 7 years, and misdiagnoses during this period include: Anxiety (Conversion) Disorder, Phobia, Multiple Sclerosis, Dystonia, PTSD, Fibromyalgia, Parkinson’s Disease, and Psychosomatic Illness It is discouraging that a lack of awareness of Stiff Person Syndrome is responsible for this prolonged delay in diagnosis.
The cause of SPS is unknown, and there is no cure. It has been theorized that SPS may be caused by a virus which enters the brain and CSF, introducing elevated levels of the autoantibody, glutamic acid decarboxylase (GAD65), preventing adequate production of gamma-Aminobutyric acid (GABA) in the brain. This is a crucial neurotransmitter, and one of the body’s natural anti-anxiety chemicals. Diagnosis is most often made from a blood test which reveals even the slightest elevated level of GAD65, although a percentage will eventually be diagnosed without any elevation of GAD65.
There are treatments which can relieve the patient of some pain, spasticity, and anxiety. These treatments may slow the progression of the disease but it is rarely halted, and disability can be delayed, although once a patient has become wheelchair-bound it is doubtful the disability will be reversed.
Common treatments for Stiff Person Syndrome symptoms include: High doses of Valium (Diazepam) and/or Ativan (Lorazepam) for anxiety and muscle spasms; Baclofen, a muscle relaxant (often dispensed from an implanted pump, called Intrathecal Baclofen); Neurontin (Gabapentin), a seizure medicine; Intravenous Immunoglobulin (IVIg), made from thousands of healthy blood donors for a single dose, to help negate some of the effects of GAD antibodies, and contribute to the production of GABA.
These treatments will be required for the life of the patient, in varying doses and frequency. Other Autoimmune Diseases, including Diabetes Mellitus, Thyroiditis, Lupus, and Pernicious Anemia, are commonly found in those with Stiff Person Syndrome. Depression is common and difficult to treat due to Neurological side effects from most Antidepressants, exacerbating SPS symptoms.
Source: StiffPersonSyndrome.info. ER