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
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
Taro Launches Specialty Generic Deferiprone Tablets, 500mg in the U.S. Taro Pharmaceutical Industries Ltd. announced the launch of a new specialty generic, deferiprone, an iron chelator indicated for the treatment of patients with transfusional iron overload due to thalassemia syndromes when current chelation therapy is inadequate. Deferiprone is the generic version of Ferriprox®. When distribution begins, Taro’s deferiprone tablets will be dispensed by BioPlus® Specialty Pharmacy. For more information on transferring your prescription, visit Taro Cares at www.tarocares.com or call 1-888-292-0744 to speak with a pharmacist. Living With Superficial Siderosis is not a medical provider or health care facility and thus can neither diagnose Superficial Siderosis or associated symptoms nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified healthcare professionals before seeking any information related to your particular diagnosis or treatment of Superficial Siderosis or associated symptoms
Losing the ability to carry on with something your life revolved around is extremely tough to take, as well as being depressive. I have always been a huge Liverpool FC fan, and that drove my passion for football. When I was growing up, I was a keen footballer (soccer player). I played for my local team, Newport Schools AFC, Newport Soccer School of Excellence. I also attended the Cardiff City Soccer School of Excellence. When I was 8 years old, complications followed the removal of a brain tumour in 1998. I needed a shunt (a device that drains excess brain fluid from the head into a cavity in the abdomen area) inserted into my head. This relieved the raised pressure that had been causing me to suffer from episodes of vomiting, dizziness, blurred vision, and extreme lethargy. The end of 2002, after months off school due to illness because of
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.
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,
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
Our superficial siderosis Facebook family is a tightknit group. We share our problems and successes; we listen and learn from each other. It doesn’t matter that we’ve never met because, along the way, it began to feel like we know each other. Still, no matter how our group has grown these past years, there will always be one more diagnosis, and one more family learning someone they love has superficial siderosis.
The holy grail of neurodegenerative disease research is discovering a pathway to healing—reversing neural damage, either through regeneration or surgical reconstruction. Our nerves control multiple biological functions. The complexity of cranial nerves has made regenerative therapies exceptionally challenging. The olfactory nerve (I) has become a favored model for the study of neural regeneration through the rewiring of axons or surgical transplantation.¹ It contains afferent fibers and is the only identified cranial nerve that may regenerate depending on the type and degree of underlying damage. Cranial nerves are divided by responsibility; afferent nerves control communication by collecting sensory information, while efferent nerves control motor functions. The physical makeup of each is distinct; efferent neurons have short dendrites with a long axon, while afferent neurons have long dendrites and a short axon. Cranial nerves may contain solely efferent fibers, afferent fibers, or a combination of both— making the current methods of repair,
The SSRA is excited to introduce everyone to grant writing team member, Kelly Morgan. This has been a challenging few weeks for everyone in our country world but the SSRA work continues with the help of some wonderful volunteers. Kyle, Sue and I had the pleasure of meeting Kelly and her husband when they traveled to Wisconsin to attend the 2019 SSRA Benefit dinner. Join us in welcoming Kelly to the SSRA.- Rori My name is Kelly Morgan, I am 57 years old and I was diagnosed with superficial siderosis in November 2011. A few years after the birth of my third child, I noticed a loss of my sense of smell and taste. Because life gets in the way, after a few years of missing these two senses, I went to an ENT and he recommended an MRI. Once a superficial siderosis diagnosis was confirmed I realized that all
Twenty-five years have passed since rare disease advocacy organizations first recognized the need for creating patient-powered registries to attract meaningful engagement with researchers. A patient-powered registry (PPR) or patient-powered research network (PPRN) empowers individuals to contribute to translational science in meaningful ways.
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
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.
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
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.
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.
The eve of a new year is a time for reflection. When I look back on our lives at the end of 2009 I’m reminded of how carefree we felt. A long wished for grandbaby joined our lives, dreams we would hike the Grand Canyon from rim to rim together, crawfish boils, Halloween parties, vacation trips, outdoor adventures camping, and hiking. Life was a nonstop activity. 2019 find us saying goodbye to the decade that was. A decade that began filled with promise is ending with changes so profound, if someone had given me a peek into the future, I would have never believed. It’s ironic this new decade begins with 2020. Our road ahead may be bumpy but we are determined to tackle this new year with 20-20 vision. 2019 is ending with so many new possibilities I am feeling hopeful once again. The vision for Living with Superficial
When the two-year study on the efficacy of Deferiprone was published one finding stood out. Patient-participant physicians submitted MRIs during several stages of the study; differences in MRI equipment, software, and magnification produced data that was difficult if not sometimes impossible to use. To correct this situation the research team began a project developing a software tool for use with the OsiriX DICOM viewer that would not only measure the exact amount of iron deposits with a 3D visual but answer the question is your chelation working? With high performance and an intuitive interactive user interface, OsiriX is the most widely used DICOM viewer in the world. It is the result of more than 15 years of research and development in digital imaging. It fully supports the DICOM standard for an easy integration in your workflow environment and an open platform for development of processing tools. It offers advanced post-processing
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
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-mÉ™s\: 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
Visit the Superficial Siderosis Pateint Registry. Open to patients, caregivers, and researchers worldwide. This registry offers you a chance to participate in research surveys and trial announcements.
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