Living With Superficial Siderosis began as a way to keep family and acquaintances updated after my husband Gary was diagnosed with Superficial siderosis in 2014. We invite you to join us as we share the details of our life, finding care, and the search for answers of how to navigate this extremely rare disorder.
Trusting Science It’s natural to be reluctant to roll up your sleeve for something as new as the coronavirus vaccine. For those who also face the dual concern of balancing a rare disorder’s symptoms against contracting a highly contagious virus, anxiety levels are running high. From online discussions, it is apparent our Superficial Siderosis community has adopted a wait and see attitude. We are all being bombarded by a lot of information right now. Some information is correct, some facts are based on just enough truth to sound reasonable, and some information is just fantasy. I can only pass along with certainty what I know to be true. I trust Dr Levy’s judgment. I trust Gary’s neurologist. Dr Levy’s statement on the COVID-19 vaccine SSRA Medical Advisory for Superficial Siderosis Patients This advisory is given in reference to the mRNA COVID-19 Vaccines Based on the data I’ve reviewed in the
This has been a banner year for anxiety with the many underlying conditions Superficial Siderosis patients face daily. The lack of early information; how the Coronavirus would affect the S.S. community. These were all added stressors. We made a personal choice early on to take extreme precautions since Gary is such a germ magnet. In March, I attended a virtual rare disease webinar on how at-risk patients should handle a Coronavirus situation in their household if someone were to test positive. We voluntarily went into a self-imposed lockdown bubble. When Your Bubble Breaks Our bubble of isolation burst with our granddaughter’s arrival; Averie moved in with her two-year-old toddler at the end of May. She would begin a new job in a popular high-traffic restaurant when a neighboring State lockdown regulation started to ease. Five days a week, she was exposed to a parade of dining patrons, some of who
Can The Progression Of Superficial Siderosis Be Slowed? The holy grail of any rare disorder is discovering the cure. With Superficial Siderosis, so far, chelation therapy has offered the only solution for removing the iron. Where does this leave a patient who can’t physically tolerate chelation or can’t afford the cost? Where is the hope? Are We Looking For The Wrong Answer? Watching the progression of someone in the later stages of Superficial Siderosis is heartbreaking. While we now have eight volunteers who have generously committed to leaving their brain for future study, those answers will be years away. As a patient community, our end game will always be discovering a way to stop the devastation. Should our priority shift to finding out how to slow cell degeneration? To identify treatment options safely tolerated by every patient, whether or not they are currently on chelation therapy that will be neuroprotective
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
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.
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
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,
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.
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-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
David M. Dickson Jr. has always enjoyed a zest for an active life. From neighborhood quarterback to surfing, fishing, weightlifting, and mountain biking this outgoing Florida native loved staying on the move. In 1994 he traveled from his sunny home in Gainesville, Florida to begin a new rocky mountain adventure in Denver, Colorado as a popular server for the Famous Ruth Chris Steakhouse. His attraction to fitness led him to become an ISSA Certified Personal Trainer before he moved on to mortgage banking. An epilepsy diagnosis in 2001 took David from banking back to the fitness industry when he became an American College of Sports Medicine certified personal trainer. In 1969, when David was ten months old, he experienced a Tonic-Clonic seizure (formally referred to as a grand mal seizure) from hydrocephalus. His surgeon performed a Right Occipital Craniectomy with an Endoscopic Third Ventriculostomy. This is a surgical procedure offered
Researching a rare disease on your own is tricky. Superficial siderosis is a serious diagnosis and most of the early research papers we found scared us to death. At first glance, the prognosis seemed… #Deferiprone #Hemosiderin #SuperficialSiderosis
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
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
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
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,
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
