The Effect of a Rare Disease on Mental Health

Superficial Siderosis 2015-2016 Getting a diagnosis was the first step. After about a year of health deterioration, multiple hospital admissions and tests, I was physically and mentally exhausted. I missed so much time at work and was really struggling to sleep at night due to the endless symptoms. The anxiety was becoming a huge issue for me. What will happen next? Can things get better? I had been in generally good health for the past few years, so this was all kind of new to me. Having recently started a new job which I was still trying to get to grips with, my health plummeted. Firstly, my hearing suddenly went in my right ear and had a massive impact on my social life as I was a guitarist in a rock band. Losing a hobby and passion was one thing. Still, the fact it had happened only a few months

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Living In Upside Down World

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I thought we were ready. Very early in March, I had a conversation with two neurologists in Italy. They had both seen patients with Superficial siderosis, so we were making a connection to share information. One of them commented we had no idea of what was heading here to the U.S. I made a mental note to do a little preparation because that’s my nature.

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A Day In My Life

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My Life With Superficial Siderosis In 2016 I was diagnosed with Superficial Siderosis, a rare degenerative neurological condition which is caused by bleeding into the cerebrospinal fluid over a sustained period of time. I had a brain tumour removed from the back of my head in 1998 when I was eight years old; this is believed to be the cause of my Superficial Siderosis. The blood which leaks into the cerebrospinal fluid eventually overwhelms the body’s capability to remove it completely, leaving iron deposits on the surface of the brain and spine. The iron is toxic to the nerves of the central nervous system (CNS) and causes all sorts of mostly irreversible, damage. In 2018 I underwent an operation to seal the back of my head. It appears to have stopped the leakage of blood into my cerebrospinal fluid. The issue I have now, like most people with Superficial Siderosis,

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Living With Superficial Siderosis

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Saturday morning may have begun at our local community urgent care but it soon turned into a run to the emergency room 65 miles further down the road. Bless my daughter for driving the second leg because the past three weeks have been nonstop blood tests, appointments, and procedures. I’m tired and I know Gary’s feeling the strain. This is living with superficial siderosis. While Gary’s superficial siderosis isn’t the culprit this time (surgery last week) he never bounces back like healthy folks. He’s always weaker -no longer healing quickly. Strangely, the surgery was textbook smooth and problem free. Yes, too good to be true. The Long Road To Here We married while Gary was in the Navy in the late 70’s. To be honest we’ve spent the majority of our lives together. We traveled to Texas from California with two toddlers, a dog, a cat, and everything we owned

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Radio Silence

Radio Silence

You may have noticed the silence of late. Life becomes busy and complicated. Sometimes you need to step back for a minute. Social media, vegetable, and chicken season. Did I mention all the new doctors? Trips to the emergency room, ultrasounds, CT scans, x-rays, and biopsies. Radio silence. Taking a breath from the chaos It began innocently. We live in a rural area and depend on a satellite to connect to our cyber world. An angry spring storm season continually wreaked havoc, making website updating an exercise in frustration. Maybe a sign to take a little break from social media? Thirty days of Facebook free. I missed the rainbows and smiles, but I think I preferred the days when I didn’t know all the most deep-seated darkest opinions of casual acquaintances.  The changes in Gary since spring have been unsettling. His ataxia thinks it’s being featured on an episode of

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The Ripple Effect Of Chronic Illness

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The role of becoming a caregiver will alter your life. Most will tackle this task with laser focus. There are no second thoughts or questions. Someone we love- spouse, parent, or child is depending on us and we will not fail them. We become advocates for their healthcare, educating doctors about their rare disease or chronic condition. We help with paperwork, transportation, medication, and everyday care. Balancing life as a caregiver I took part in a rare disease caregivers survey last year and I was slightly taken aback by one of the questions concerning the “burden of care”. Never once had I considered what I do on a daily basis as a burden. Gary and I have been together through everything for the majority of our lives. If our roles were reversed he wouldn’t have hesitated. We’re lucky because some in our community don’t have this support. 69% of the

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Touching The Positives

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I recently came across an interesting question, If you were cured today, what would you do? For people with a chronic condition or rare disease that’s a loaded question. What would you do just for yourself, for family or friends? Would you run out to experience a long-time dream? Visit far off places? Make more friends? Host a party? Meet a friend for coffee? Would you find a cause, jump in, get involved, be engaged? Are these the things you long to do while you’re breaking through the pain or fighting off loneliness and isolation? The days when you can’t bear to move a finger let alone get out of bed? If you got your miracle today what would you do? It’s so easy to allow the negatives of chronic illness to swallow us alive. When your glass is continually half empty and every day is a struggle you desperately need

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Surviving The Neurology Ride

Surviving The Neurology Ride

A visit to the neurologist often reminds me of stepping up to ride the tallest most twisty ride in the park. You start off slowly inching along, anticipating a thrilling experience with just a hint of fear. Then the bottom falls away and down you go. Sometimes the ride is exciting, everything you expected. Often the anticipation and hype don’t live up to your expectations. Do We Expect Too Much? Gary just finished with his last neurology visit for this year. We’ve had an outstanding year as far as finding solutions to some of his problems. We’re lucky to have been assigned an indulgent doctor who listens to my oft-times long-winded list of concerns. I am aware I can be a high maintenance caregiver at times, but without constant prompting, Gary often rambles through triage sessions. Why does it always feel like it’s never enough? Superficial siderosis is a slowly

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Superficial Siderosis Standard Of Care

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In the United States, there is usually a national standard of care for a particular diagnosis. A documented clinical guideline for your physician to follow. No matter where you live geographically, your physician should have access to a standard treatment protocol. Physician education and a worldwide Standard of Care policy are two topics we as advocates need to push. Medical students may briefly learn about superficial siderosis during their training, but it presents so rarely (if ever) diagnosis is often considered inconsequential or untreatable. This guideline does not exist for Superficial Siderosis. There are treatment options that were not available five years ago. The progression of superficial siderosis is better understood now. The knowledgeable physician can now offer alternatives to slow the neurodegeneration. Iron chelation will not prove fruitful for every patient, but we are seeing positive reports coming in from some early patients. The first problem is the use of Deferiprone for

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Does Superficial Siderosis Contribute To Cardiac Arrhythmia?

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When you think life has settled in it chooses to get in your face, passing by at a crazy pace. Before his pacemaker placement, Gary’s heart rate was consistently slowing, as low as 29 bpm, with swings upward topping 220+ bpm. Accompanied by more than his usual dizziness, and a burning sensation in his chest the danger of a heart attack or stroke was high. Gary had no prior history of heart disease, no plaque build-up, blockages, or weak valves. His is strictly an electrical problem. His pacemaker is now handling the low end nicely, but his heart continues to race. He has now been diagnosed with Sick Sinus Syndrome (SSS) that has developed into Tachy-Brady Syndrome. Sick Sinus Syndrome (SSS), is a grouping of cardiac arrhythmias that present as an abnormal sinus node impulse which causes are categorized as either intrinsic or extrinsic. Gary’s problem is thought to be extrinsic since he

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The Question Of Restless Leg Syndrome

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  Restless Leg Syndrome (RLS) has become an interesting discussion topic in Superficial Siderosis circles so my question: Is there a connection between SS and RLS? Or does the fact RLS affects 8% of the population¹ suggest it’s simple law-of-averages accounting for so many people now reporting problems? What is RLS? Restless legs syndrome (RLS) is a neurological disorder that can affect anyone. Research into Restless Leg Syndrome has increased over the last 20 years in relation to a higher percentage of the population now touched by this very painful syndrome. RLS most often causes uncontrollable movements of the lower legs and is often accompanied by painful or uncomfortable sensations. It occurs during times of rest with symptoms lessening while you are active.¹ While the research found RLS can run in families suggesting specific variations have a genetic component there is sometimes a connection to peripheral neuropathy. Symptoms involve both

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Camping with a Chronic Illness

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No, I’m sorry we can’t.  It’s become our standard answer to most invitations now. Our niece sent a text last month. Hey, we’re going skydiving do you guys want to come? I was so shocked I asked if she meant to send the invitation to someone else. Mistake or not it brings home the reality of living life with a chronic illness. Inside or outside event? How far away? How long will it last? How late?  It’s become too easy to decline politely. We’ve always loved camping. Gary and I have wonderful memories of camping with our kids, family, and friends. We introduced our oldest granddaughters to the joy of campfires and sleeping in tents. Long before Gary’s diagnosis, we had begun a work-out program in anticipation of a future camping and hiking trip to the Grand Canyon.  Our youngest granddaughter decided it was her turn to camp. When our daughter-in-law

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The Common Thread Searching For The Unexplained

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Superficial siderosis is ultra-rare. In fact, if you searched the national or international rare disease databases until the last few years it wasn’t listed.  We should be glad so few will face a diagnosis of superficial siderosis, but you can’t help but wonder. Is there a common thread to be found? I often find myself thinking about this vey topic. Dr. Levy has said they don’t know why some people are overwhelmed by the blood infiltration. An unlucky spin of the wheel? I’m not medically educated but what if I brainstorm and toss around a few ideas? First, let’s talk about what we do know. Superficial Siderosis is not hereditary; you aren’t born with it. Superficial Siderosis is not contagious; you can’t spread it or catch it.  Age or gender do not play a significant role in the diagnosis; patients were diagnosed at an older age due to the slow nature of

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Thread of Depression

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Have you ever wondered which is the most frequent and sometimes incapacitating superficial siderosis symptom? Sensorineural hearing loss, ataxia, and myelopathy are all life-changing, but the single most shared symptom members of our superficial siderosis community battle is depression. Not everyone will fall head first into a pit of despair, but the fight for your health wears down even the most optimistic person. As your physical well-being slips, stressors begin to take over as your quality of life slowly begins to change.  If you’re one of the lucky few to develop anosmia enjoying a great meal is now a memory. Conversations become impossible to follow leaving you to feel isolated. Going to work is a nightmare. Vision problems rob you of your ability to drive. The bonus? If you live in an area without access to public transportation, say goodbye to your independence. Stress And Depression Extreme chronic stress is known to evolve

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