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.
Everyone loves something free but too often there’s some kind of string attached. The item might be free but the cost of shipping and handling is outrageous, or in claiming the free item you end up in a never-ending membership. Good news! Livingwithss.com has discovered something that is not only free but also useful to our superficial siderosis patient and caregiver community. The writers of Brain & Life® offer interviews, insights, and information which focus on the relationship between neurological disease and brain health. Available in both a free print edition to U.S. residents and to a worldwide audience in an online format, Brain & Life ® magazine delivers both patients and their caregivers’ regular updates on healthy living, neurological disorders, caregiving, research, patient essays, and resources. Originally published as Neurology Now®, Brain & Life ® magazine is the work of the American Academy of Neurology (AAN). The AAN is
We all learned how to be a friend early on but for those of us who know someone fighting a rare disease or chronic illness, it takes some understanding along with a little effort to become a better friend. The challenges faced by the chronically ill are a daily part of life. You may know what you need but the same can’t always be said of your friends or acquaintances. Ask Questions Engaging in a conversation with someone who has a rare disease or chronic condition requires particular skills. It helps if, in the beginning, you allow them to control the flow of conversation. Take a moment to think about your questions. How are you? It’s often the first thing people throw out in a passing conversation. It’s an easy question, but subconsciously it sends the message: I know you’re ill, but I don’t want to hear all the gory details. The
Superficial Siderosis. Subpial Siderosis. Infratentorial Superficial Siderosis. No matter how your doctor officially labels your diagnosis odds are no one has the slightest idea of the battle you are about to face. A rare neurodegenerative condition so uncommon it’s often not recognized by the rare disease organizations tasked with supporting us.. What is Superficial Siderosis? Superficial Siderosis is a slowly progressive chronic neurodegenerative condition. It is not a genetic disease, and Superficial Siderosis isn’t contagious. Its cause is often a past trauma, surgery, aneurysm, or some event that resulted in chronic subarachnoid bleeding. The body is designed to rid itself naturally of blood infiltration into the subarachnoid space, but in rare cases, this slow long-term bleeding overwhelms your system.¹ Explaining the process requires some big and complicated words. Not big as in real size or number of letters in a word but in the sense of consequences. Yes, it progresses
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
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
Finding a user-friendly exercise program for patients diagnosed with related ataxia symptoms isn’t easy. For example, Gary is limited to lifting 10lbs so he doesn’t cause fresh bleeding into his CNS. Standing or sitting with free weights is a no-no; even without the lifting limit, you wouldn’t want to be the spotter with his balance problem. Before his nerve block, getting down on the floor to do planks, sit-ups or leg lifts would bring an instant migraine. Exercising was a minefield. Gary’s appointment for his balance and gait evaluation gave us the opportunity to ask the kinesiology department these questions. He needed a low-impact strength program designed so it: Could be done at home Wouldn’t trigger headaches Balance problems wouldn’t interfere Muscle tone could be strengthened or maintained The physical therapist built a program with ten strength exercises, each set targeting the upper or lower body using resistance
Some of our earliest blog posts explained Dr. Levy’s suggested medication dosing schedule and diet recommendations. We dubbed this the Five-Two Diet Plan so we would have an easy way to write about it.
Two and a half years in and we can report our high/low iron foods cycle diet plan is a success at reducing Gary’s ferritin level. His body seems to have leveled out naturally and hovers in a channel now.
UPDATE DECEMBER 2017: Gary has been following this diet plan for 30 months now. His serum ferritin level now stays between 11.2 and 9.9. His lowest level recorded was 8.8. He cycled off his Ferriprox for a week, and we iron loaded his diet until he was back in the mid 9 level.
It’s human nature to wonder How long will I live? When you’ve been diagnosed with a life-changing ultra-rare illness like superficial siderosis thoughts like this can consume you. Superficial Siderosis Life Expectancy, four words make it intensely personal. The early impressions I found online were dark; there is no cure, the damage is irreversible and fatal. The word fatal is a definite attention grabber. The day we found out about superficial siderosis I read that one single sentence in a very early report and my heart dropped. Three Five years into this journey and we have first-hand insight with a much clearer understanding of the nature of this disease. If you review the possible combination of symptoms that may assault you, it should become clear while you may suffer body and soul, none are life-threatening in an immediate sense. There is no doubt the toll on your body is punishing. The
Life as a germ magnet. A healthy person strolls through daily life never giving a thought to living with a weak immune system. A person with superficial siderosis often finds out the hard way caution should be the word of the day. Every day we’re bombarded with invisible bugs. You think you’ve taken care to avoid those unseen dangers, but life as a germ magnet guarantees something nasty is bound to take hold. Last winter was the perfect example. Our daughter’s family was fighting a particularly nasty flu. We had been avoiding their house, but we found ourselves answering a plea from one of the granddaughters. Their commode was stopped up and their folks at work. Gary walked in, plunged the offending toilet into submission, and walked straight to a sink in another room. He thoroughly washed his hands and arms. I stood ready with the hand sanitizer and slathered
Superficial Siderosis Webinar Transcript Presented by Dr. Michael Levy To view the recorded webinar you may watch here Download a copy of the transcript and slides here Click on the individual slide to view larger Hi, my name is Dr. Michael Levy. I’m an assistant professor at Johns Hopkins University in Baltimore and a neurologist. I see patients with Superficial Siderosis of the nervous system. This webinar was really a joint effort with my patients on Facebook, who recruited me to present a twenty to thirty minute overview about Superficial Siderosis. Today I’ll go through just kind of the broad strokes of the pathophysiology of the disease, at least the parts we understand. We’ll work out the treatment options that are available. First, what is Superficial Siderosis? In broad brush strokes, Superficial Siderosis is an iron overload condition of the brain and spinal cord. Patients with Superficial Siderosis
Green tea has enjoyed such a surge in popularity that more than a few people are skeptical. Every healthy living blog touts the benefits of green tea for everything from cardiovascular health, diabetes or weight loss. That will raise an eyebrow or two, but when you do some research, you may find yourself changing your mind. One of the more worrying symptoms of superficial siderosis is cognitive impairment. 20% of SS patients will experience early onset dementia. That’s not an enormous number considering that’s about one in five (of 270 diagnosed cases) but when you might be one of the ill-fated headed in that direction the number gets BIG real fast. Small signs that something was off showed gradually but began increasing last winter. Gary can remember the phone number and address of every house he has lived in but forgets the daily meds he’s been taking for years.