Summertime Neurology Blues

Summertime Neurology1

  We hit the road last week for another trek to see the neurologist. We usually enjoy these long rides up into the heart of Arkansas, but it seems we can’t escape the unplanned detours lately. We headed out with our long list of questions and a feeling of excitement. The latest MRI results should be ready for viewing just in time for our visit. In our last neurology update, I mentioned while Gary receives excellent care from his neurology department they do use residents and medical students from the University of Arkansas Medical Center. Every visit we can look forward to explaining Superficial Siderosis in detail to a new group of wide-eyed young doctors. I will say it’s encouraging to see how engaged they are. Writing notes and paying considerable attention to every detail we tell them. We began our visit detailing the changes Gary has been experiencing since his last follow-up.   His dysphagia seems to be in a holding pattern. His hearing, balance, and gait are noticeably worse. Falls are happening with higher frequency.  Double vision used to be intermittent but now has progressed to most of the time. Gary finds if he is not paying attention saliva will…

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The Superficial Siderosis Patient Registry

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  Your Superficial Siderosis community advocates, the Living With Superficial Siderosis website and The Silent Bleed -Your Superficial Siderosis Charity have joined together in a grassroots effort to support the launch of a patient-powered registry. You are being asked to take part. Before you agree to participate in this volunteer effort, it is important that you understand what this registry is about and what will be done with the information that you provide.  The disadvantages we fight include the geographic distance between our community members and finding interested researchers or healthcare industry partners. Superficial Siderosis patient member groups on social media have been our primary means of communication. Recent Facebook group discussions led to the realization our Superficial Siderosis community needs a patient registry accessible through a web-based platform. After some consideration, it seemed the most cost-effective way to a Superficial Siderosis patient registry was to build the first one ourselves. This website takes advantage of internet security protocol, registration requirements, and restricted member login for access to profile and survey areas. Our personal information will be stored the same as yours. No information will ever be offered for sale. No identifying information will ever be disclosed without your express consent.  There are three registration…

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Our Superficial Siderosis Community: Meet Rhys Holmes

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Meet Rhys Holmes   Rhys Holmes loves music. A 28-year-old Welshman, he spent time in the music program at Glamorgan University. An accomplished lead guitarist and background vocalist, Rhys followed his dream of hitting the road. He spent time traveling through London in a van with fellow bandmate Nick Byrne while working for a supermarket. In 1998, when Rhys was only eight, he went through surgery to remove a benign brain tumor. Other than fighting off a bout of meningitis post surgery he returned to school and happily resumed his passion as an avid footballer playing for his local club, Cardiff Soccer School of Excellence and Newport Schoolboys. When symptoms returned in 2001 Rhys was diagnosed with hydrocephalus. His surgeon inserted a VP shunt which led to multiple surgeries during the next four years. His doctor informed his dad he would have to give up football. The news devastated Rhys so his father gave him a guitar hoping a new hobby would soften the blow. Rhys found his way to an after-school music program run by drummer Bob Richards (Asia, AC/DC). In 2008 he entered Glamorgan University in Cardiff, but with repeated fights with bacterial meningitis and pneumonia continually interrupting…

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Decoding The Superficial Siderosis MRI

MRI Superficial Siderosis5

Tracking Your Hemosiderin   There has been a definite increase in people diagnosed with superficial siderosis. The improvements in neuroimaging have resulted in advanced iron sensitive 2-D and 3-D MRI techniques. Thankfully you can now be diagnosed in vivo and, if you’re fortunate, early enough to do something. Researchers have now identified three branches of superficial siderosis, each with a unique clinical presentation and pathology. Infratentorial Superficial Siderosis (iSS) Type1 Classical is the superficial siderosis which affects our group. Clinically it presents with hearing loss, ataxia, myelopathy and slow progressing neurodegeneration. Infratentorial Superficial Siderosis (iSS) Type 2 Secondary will show classic hemosiderin staining on the MRI but will not present with any clinical symptoms or degeneration. The newcomer is Cortical Superficial Siderosis (cSS). Hemosiderin deposition is limited to cortical sulci of the cerebral hemispheres. The cerebellum, brain stem, and spine escape deposits. Cortical Superficial Siderosis (cSS) has different clinical symptoms and causes. It seems to be age related with a connection to cerebral small vessel disorders.¹ Annual MRI   Gary is in his fourth year now of chelation therapy. His first dose of Ferripriox was in July 2014 and his original hematologist always made sure he ordered annual MRI scans of his head and spine.…

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Understanding Ferriprox

Ferriprox-deferiprone

There is some confusion when it comes to understanding Ferriprox and superficial siderosis. Ferripriox (Deferiprone) is a prescription drug whose primary purpose is treating people who have transfusional iron overload due to Thalassemia syndromes.¹ Deferiprone was designed to bind to this iron and remove it in a process called Chelation therapy. It’s my understanding if a person suffers from iron overload they feel better when chelation lowers iron levels. Superficial siderosis patients do not have too much iron in their bloodstream. They have iron deposits (hemosiderin) stuck to areas of their brain (most often in the cerebellum or spinal cord) that are the result of blood infiltrating into their central nervous system from a trauma. An accident, surgery, stroke, etc., but somehow blood was introduced into their spinal fluid. The average person will naturally absorb and remove this blood. A rare few people will not be able to remove it. This iron is toxic to nerve function and ultimately can end in nerve death. There are many other prescription iron chelation medications on the market. Studies have shown Ferriprox as the only prescription drug, at this time, able to cross the blood-brain barrier so it might have a chance at removing hemosiderin…

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Neurodegenerative Vision Problems

neurodegenerative vision problems

When Your Eyes Have A Mind Of Their Own You move your eyes more than your heart beats. Vision problems often are one of the mysterious, unexplained symptoms people are plagued with long before their doctor knows what is wrong. While not as frequent as sensorineural hearing loss or balance issues a large percentage will suffer from some vision disturbance. Anisocoria, diplopia, nystagmus, dry eyes, or phantom images in your peripheral vision should all sound an alarm. An experienced ophthalmologist will recognize you may be exhibiting an early symptom of a neurodegenerative disorder and suggest neurology consults. Superficial Siderosis patients may have at least one of these symptoms, or they can be an overachiever like Gary. At one time he was experiencing every vision problem we just listed. Years earlier Gary’s optometrist had diagnosed early dry macular degeneration in one eye, so he always has regular screenings. I see an ophthalmologist, so I mentioned his vision problems during my appointment. In the beginning First were his complaints of double vision and problems with depth perception. He would see things out of the side of his eye, moving or stationary, that wasn’t there. Driving our backroad after an errand Gary was…

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Tips For Developing Great Patient-Provider Communication Skills

Patient Provider Communication Skills

Communication must be a two-way street Rare disease patients often battle a variety of complex clinical symptoms. A visit to your specialist often results in as much confusion by the end of your appointment as at the beginning. Healthcare providers are often under pressure to keep patient face time to a minimum, so clear communication is a vital step in understanding your plan of care. Your doctor needs accurate information to help you. It’s essential patients with short-term memory problems or mild cognitive impairment pre-plan for what they need or expect to learn during their appointment. Gary keeps a small daily notebook where he records his vitals, notes about medication or symptom changes, fluctuations in blood pressure, pain levels and new questions. Without this health diary, he is unable to remember significant details or forgets essential questions whether an appointment is a few months down the road or tomorrow. He brings his notebook to every regular office or hospital visit. Physicians find details with dates and times very helpful. It also helps if you can tell the story of events leading up to a specific incident. I was doing my usual ____ late in the afternoon, and then I was doing…

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The Power Of Community

power of community

We’re proud to publish the first of many collaborations with blogger and Superficial Siderosis activist Rori Daniel. Find her powerful, insightful and informative blog site here. –  thesilentbleed.co.uk   Fear is a powerful emotion. Anxiety shows no sympathy. Fear destroys if you give it power. A rare disease diagnosis, especially one as unknown as Superficial Siderosis, forces you to face your worst fears. It’s hard. We are not built to face fear alone. Thankfully, early patients and caregivers sparked the creation of our most powerful resource. Community. Your future has changed so how should you plan? How is your family going to be affected? Where should you look for care?. Chronic illness brings countless unanswered questions. The very nature of superficial siderosis or any rare disease should make finding your community a priority. One person may struggle to search for answers, but there is an astounding well of knowledge waiting for your questions. The wisdom of community is powerful. You’ll find your community happy to offer support no matter if you’re facing a new medical procedure, fighting through pain,  dealing with a new symptom or need a …….read more here

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Our Superficial Siderosis Community: Meet Robert Cameron

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  Robert Cameron has seen the world. Graduating with a degree in Marine Transportation from the United States Merchant Marine Academy he rose through the ranks and took command of his first vessel in 1980. A voyage that would continue for more than 25 years, Captain Robert traveled the world; Australia, New Zealand, South Africa, Japan and the United States making memories for a lifetime. A meningocele was found wrapped around the nerves at the T-4 area of Roberts’ spine. The discovery led to a 12-hour surgery and resulted in an uncontained slow bleed. In 2005, a diagnosis of superficial siderosis changed his course. Retirement finds him splitting his time between Florida, where he is he under the care of Dr. James Meschia, Head of Neurology Jacksonville Mayo Clinic and his summer home on Nantucket island. Opting to give chelation therapy a chance, he feels there has been a slowing of the progression and even seen some improvement. Not one to let an opportunity slip past he decided to battle back against memory loss issues and exercise his mind by tackling his lifelong dream of writing. During his time as a sea captain, he was witness to the beautiful marine…

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The Common Thread Searching For The Unexplained

common thread

Diagnosis of superficial siderosis is rare. It’s so unique in fact if you searched for information on one of 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 find myself thinking about this subject a lot. Dr. Levy has said they don’t know why some people are overwhelmed by the blood infiltration. An unlucky spin of the wheel. We’re not medical professionals but what if we brainstorm a little 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, in the past, at an older age due to the slow nature of the progression, but newer MRI technology is making earlier detection possible. All confirmed superficial siderosis patients had experienced unnatural blood infiltration into their central nervous system; trauma, surgery, aneurysm or stroke that caused long-term bleeding.…

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