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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Changes

Behavior

We should take a moment to discuss the elephant in the room; the cognitive, emotional, and mood changes that may accompany this disorder’s progression in moderate to later stages. It is comforting to realize that not every superficial siderosis patient will experience cognitive issues or behavioral changes. Emotionally, a select group of superficial siderosis patients will be fighting Mr. Toad’s Wild Ride every single day. Our community has learned how movement, gait instability, speech impairment, uncontrollable eye movement, and swallowing problems may manifest as the result of superficial siderosis induced damage to the cerebellum. Schmahmanns’s Dysmetria of Thought is a theory that suggests the cerebellum also plays a crucial role in the flow between thinking, actions, feelings, and interpersonal interactions. …the cerebellum regulates not only the rate, rhythm, force and the accuracy of movements, but also the speed, consistency, capacity, and appropriateness of cognitive processes. Jeremy Schmahmann MD, Director, Ataxia

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Introducing Mass General Research Institute

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Rare Disease Week kicks off for the SSRA with a trip to our Chief Medical Advisor, Dr. Michael Levys’, new research home with the Mass General Research Institute. What better way to celebrate than a giveaway! With a few clicks or taps, you can be entered to win some really sweet swag from the good folks at Massachusetts General Hospital. You have a chance to win an Official MGH Men or Woman’s zip-front fleece jacket, MGH Ball Cap, or an official grey scarf embroidered with our SSRA logo. There will be several winners so why not enter? The contest details are below. Mass General is the #1 Hospital on the East Coast and named #2 in America by U.S. News and World Report. They are the only hospital in America to be recognized across all 16 specialties assessed by U.S. News. Let’s talk about Dr. Levys’ new facilities for a

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Embrace The Crunch

Embrace the Crunch

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Most of us never give much thought to how our sense of smell influences our sense of taste. The pleasure from appreciating the dimensions and nuance of flavors disappears when you lose your ability to smell. When this occurs later in life the impact is a difficult adjustment. While Superficial Siderosis may bring many neurological changes one of the more exasperating symptoms is anosmia. Cooking for someone with anosmia requires planning along with a little experimentation. Be prepared to embrace the crunch. Anosmia, the absence of olfactory sensation can either be congenital or acquired. Gary’s sense of smell faded slowly, taking more than ten years to completely disappear. Pretty handy if you’re asked to dispose of something stinky but a poor trade-off for being able to enjoy the scent of fresh flowers or the aromas of an excellent meal. Keeping meals interesting for everyone at the table is not easy.

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Believe in Hope 2019 Benefit

Believe in Hope Dinner

We were thrilled to welcome just shy of 100 supporters to our 2019 Believe in Hope Benefit Dinner, December 7, 2019, at the Ingleside Hotel in Pewaukee, Wisconsin. Our first Superficial Siderosis Research Alliance benefit dinner was indeed a fantastic evening. Racing against a very short deadline, SSRA event coordinator Sue Dempsey, SSRA President Kyle Dempsey, and our volunteers showed what the SSRA is capable of when a motivated group works together. Ticket sales were almost double original estimates requiring a venue change and room size upgrade to accommodate this wonderful group of people. Be sure to visit our benefit dinner photo gallery. The evening began with a guitar duo provided by SSRA treasurer Lloyd Gleisner and Jeff Nesheim during the pre-dinner meet and greet. Guests enjoyed cocktails as the silent auction bidding opened. Every auction item was successfully bid on before the night ended, and one lucky live bidder went

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Balancing Act

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Some days are better than others but you really start to worry about the future when you hear the unmistakable sound of someone bouncing off the wall and hitting the ground. Gary has been stubbornly trying to continue walking inside the house using what I silently refer to in my mind as Triple L Walking– Launch, List, and Lurch.

He uses furniture and walls to steady himself. Granted he still has some good days but those are becoming increasingly rare. On the bad days, he pushes off towards where he wants to go (launch), walking in a sideways motion (list) and forces his body to arrive where he was headed (lurch). You can feel the collective holding of breath by everyone in the room. Yes, I am aware of the silent scolding glances you’re shooting me but you try making the horse drink.

Dr. Levy has explained in the past how the fight with keeping your balance will aggravate Superficial Siderosis fatigue. Gary has resigned himself to the fact he needs either his rolling walker or wheelchair every time we leave the house. It’s a matter of distance now in picking the one we choose. If there will be short periods of walking with opportunities to rest the walker works. He uses the walker during our daily road walks. If he’s feeling strong he’s often able to make it to the 3/4 mi. mark before we have to turn back. If we go on longer walks he will push his wheelchair, using it as a walker, when he gets tired he rides while we fight over who gets to push him. Take my word, pushing a wheelchair three miles up hills is the best leg workout.

The possibility is very real Gary’s problems with balance will continue to worsen so I thought now was a good time to revisit an earlier post about Motion Therapeutics and their amazing Balance Wear Vest.

Balance and Gait Therapeutic Alternatives

Cynthia Gibson-Horn is a physical therapist who designed a remarkably straightforward combination of physical therapy while wearing a weighted balance vest. The vest, “BalanceWear® Orthotic.” requires a patient evaluation so they can provide a custom weighted vest, counter-balanced to your particular balance needs.

The results are remarkable. Multiple Sclerosis, Spinocerebellar Ataxia, Parkinsons’, Peripheral Neuropathy, and Cerebellar Degeneration patients have all shown improvement from therapy. Terry Hayes suffers from severe cerebellar degeneration and her doctor thought she would spend the rest of her life in a wheelchair. Six months of physical therapy using the weighted vest and Terry was walking once again. Read Terry’s story on the MotionTherapeutics Inc website.

Motion Therapeutics logo
 MotionTherapeutics Inc. provides non-invasive therapeutic solutions for balance and mobility disorders using Balanced-Based Torso-Weighting® (BBTW®) garmets. Once fitted with the BBTW® garment, clients often achieve immediate improvement in their ambulatory ability.

Inescapable Realities

Realities

Superficial siderosis progresses slowly during the early years. This may be an unintended blessing considering the years many will spend searching for a diagnosis. Gary’s story timeline has always remained closely aligned with physician estimates. The inescapable reality we must now face is this disease has entered an accelerated stage. I need to be clear. It’s not the superficial siderosis accelerating; it’s the overwhelming effect the symptoms of this disease inflict on Gary’s body. The changes are pronounced and palpable. Visible and Invisible Our life revolves around doctor appointments. Ten trips spread over three states in four weeks. Gary receives very attentive care but I often wish there was something doctors could offer him besides platitudes and bandaids. The symptoms are winning the battle. Gary suffers falls almost every day. We had a physical therapist coming to the house twice weekly for two months; by his eight-week evaluation they threw

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Eye on Nystagmus

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It was late 2014. Gary and I were waiting in his new ophthalmologists exam room when I wondered why is it so many of the superficial siderosis related conditions seem impossible to pronounce without a medical degree? Silly I know, but I’m never clear what the actual pronunciation is. The doctor comes in talking and I think, wow, that’s not even close to how I imagined it. This time Gary’s neurologist cleared up the pronunciation question. Nystagmus, noun, nys·tag·mus \nis-ˈtag-məs\:  a rapid involuntary oscillation of the eyeballs. A curious word describing a condition with some very annoying consequences. Nystagmus is a vision condition in which the eyes make repetitive uncontrolled movements. These involuntary eye movements can occur from side to side, up and down, or in a circular pattern. As a result, both eyes are unable to hold steady Nystagmus may be accompanied by unusual head positions and head nodding in an attempt

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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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Living With A Compromised Neurological Reserve

Living With Comp

Metabolic stress is not a friend to the very young, elderly, or those who’ve been dealing with superficial siderosis for awhile. If you’re healthy, enjoy a great immune system, exercise body and mind you easily bounce back after an infection or surgery. Your brain’s capacity to handle metabolic stress and adapt to a disease affecting the brain is referred to as neurological reserve. Often, superficial siderosis patients who’ve been fighting a steady progression of their condition also discover they’re now living with a compromised neurological reserve on a perpetual basis.¹   When the bounce-back forgets to bounce Neurological reserve refers to two groupings, cognitive reserve, and brain reserve. The level of cognitive reserve a person has prior to becoming symptomatic may explain why there is a difference in the progression speed and severity of superficial siderosis based cognitive decline. As the degenerative brain changes occur, people with a higher cognitive reserve

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Small Victories

Small Victories

I wrote an earlier piece on livingwithss.com detailing Gary’s intermittent swallowing problem. The Danger Of Dysphagia outlines some serious risks you may face if you choke while eating or drinking. Gary has been evaluated on a regular basis since that first baseline test. Steps In the Right Direction Earlier this summer, Gary had been referred to an endocrinologist for a lump he was feeling on the front of his neck. He had a past history of thyroid cysts so after X-rays and a scan they decided a biopsy was needed. Fast forward through the nail-biting, the lump was benign, but he was referred to an otolaryngologist closer to home for an opinion on surgery. Superficial siderosis can bring so many different symptoms the merry-go-round of specialists many of us visit can leave us exhausted and confused. When you stumble across that rare physician who is both caring and delivers an

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Is It Time To Visit A Neuropyschologist?

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Your brain is a complex system that controls your body, guides your thinking, and filters emotional response. When something like superficial siderosis damages neural function questions arise on how exactly a person’s thoughts, feelings, and cognitive function will be affected. If you or those close to you notice changes in memory, thinking or behavior it may be time to visit a neuropsychologist. The MRI scans of some superficial siderosis cases may note the presence of cerebellar atrophy. Cerebellar atrophy is wasting that affects the brain, brainstem, and in some cases the spinal cord. You can blame gravity for how hemosiderin settles around the cerebellum, slowly damaging it, and bringing symptoms many in the superficial siderosis community are familiar with. Even though your cerebellum is less than 10% your brain volume, it is home to 80% of your brain’s neurons. It’s common knowledge the cerebellum was linked with your motor function,

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Your Daily Medications

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Imagine living a life that revolves around medication. I know many of you can relate. Try keeping track of 200 pills a week with nine different daily dosage times. What time is it? Did I take my pills? Did I forget my medicine? What’s next when memory becomes such a problem your reminder strategies begin to fail?

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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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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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