If there is a single lesson our superficial siderosis community should be annoyingly familiar with, forward progress never happens overnight. We always seem to be waiting -appointments, test results, news. Whoever decided patience is a virtue should step forward and explain themselves. Playing The Waiting Game A few weeks ago we introduced the Superficial Siderosis... Read More »
What if research could identify a way to give your body a fighting chance? Kick-start the path to healing?
Ataxia, sensorineural hearing loss, and myelopathy; These are the real enemies you confront because of superficial siderosis. Yes, free iron wreaks havoc, but this mix of symptoms will rob you of your independence and your wellbeing. The damage at the cellular level creeps along annoyingly slow for many years until one day you realize, “What’s happening with my body? To my life?”
The goal of surgery is clear. To stop an active bleed from creating a heavier or more widespread iron build-up. Newly diagnosed patients are often confused by the chelation process. Will it make the symptoms better? Will it make me better? The purpose of chelation is to remove the iron and stop your cell damage from progressing. It won’t address the damage already done. In theory, if you remove the build-up, you can slow or arrest the deterioration. Maybe then, your cells have a chance to begin the healing process.
The dream of patient-powered research was the seed that became our Superficial Siderosis Patient Registry. A community website where we can overcome the geographic distance between us to collect data and offer everyone the chance to participate in new studies as they become available. All studies need a researcher and funding, but more importantly data.
The time to begin is now
We have begun the search for grant money so a natural history study can be completed on superficial siderosis. The knowledge of a rare disease or conditions natural history is a vital step in laying the foundation for a successful clinical development program. That’s especially true when developing or discovering drugs to treat rare diseases which are not understood. A natural history study would track the course of superficial siderosis as it progresses naturally if left untreated. Dr. Michael Levy has agreed to oversee this research, and when the time comes, we will need to reach out to those who have chosen to allow the natural progression.
A funding source is also required to initiate the two-year randomized, double-blind placebo control study of the efficacy of Ferriprox (Deferiprone).
Where we start
Our first registry effort will be the creation of The Superficial Siderosis Research Tissue Donation Project. We still have many details to work on, but this project is vital to the future of superficial siderosis. Research takes a very long time, so as hard as it may be to face, even though some of our community friends will never experience the benefits you still have an opportunity to contribute. To make a difference to those who follow with a real chance to live a better life.
Kyle Dempsy has spearheaded the fundraising effort in the United States while Jason Roberts and the Silent Bleed Charity have worked their magic from the United Kingdom. We recognize that not everyone is able to help financially, but we are looking for project volunteers. End-of-life donation of brain and spinal cord tissue for superficial siderosis research is the most generous gift you can make. It’s not a happy place, contemplating your mortality, but we need ten volunteers at a minimum who will consent to this donation so steps may be put in place ahead of time.
You have the opportunity to help in Dr. Levy’s quest to find answers. By improving the understanding of superficial siderosis and the pathophysiology, research will be able to explain the functional changes at a cellular level that are occurring within an individual due to superficial siderosis. By exposing the how’s and why’s, we can empower researchers to not only discover better treatments but ultimately a pathway to healing.
We realize there will be some cost involved with a donation of this type, so we are committed to raising donations so your family will not have to shoulder the burden of an added expense. All tissue donations and records will be stored under the supervision of Dr. Levy and his team. Donors will be released to your family after the procedure is complete and will in no way interfere with internment plans.
Once we have a clear view on how to organize this process, an information packet will be available on the patient registry website. Construction on this new website section will begin soon. All registered patients and caregivers will receive updates via the registry email list. Spinal cord and brain injuries tell us our bodies can be very resilient. We have a very long way to go, but baby steps begin every journey.
Superficial siderosis is an ultra-rare condition with a small patient population. Our community knows all too well how difficult the journey to a diagnosis and then care. Too often hope dwindles leaving you to wonder how we can make our voice heard when our numbers are so small?
A disease is classified as rare in the United States if there are fewer than 200,000 confirmed cases. Fewer than 2,000 and you join the exclusive ultra-rare class. Superficial siderosis is classified as ultra-rare — lucky us. There are 7,000 recognized rare diseases and conditions, and in the U.S. alone one in ten will be diagnosed. Global Genes estimates there are over 300 million people worldwide fighting a rare disease. When you think about it, our voices might be small but together as a rare disease advocate community we can not be ignored.
Once life on the doctor-go-round slowed, I found myself searching for a new way to make a difference. It turns out we have non-profit organizations serving the rare disease community as a whole, who offer training and advocacy support. The EveryLife Foundation mission statement was a magnet.
Enhance the patient voice in policy making, drug development, and regulatory decision making.
Help ensure rare disease patients receive the earliest access to diagnostic and treatment opportunities.
Improve the regulatory process and advance science for rare disease therapies.
EveryLife sponsors a program, Rare Disease Legislative Advocates. “Every Voice Matters.” Each February they send a group of patients, advocates, and patient advocacy organizations to Capitol Hill to speak first-hand with congressional members about issues affecting the rare disease community as a whole and problems specific to your condition. For one single moment this fall, I chose to ignore a lifetime of being a terminal introvert and took the plunge. We would try to attend Rare Disease Week On Capitol Hill.
You can not imagine my terror on reading the welcome email: “Dear Living With Superficial Siderosis, We’re happy to…..” Gary was unfazed by the news. After taking a breath, my planning began. By New Year’s day, our travel arrangements were complete, our daughter had agreed to travel with us, and I was reading through training schedules and event times. It would be a full week.
Public transportation is a mystery to those of us who live in rural Texas. We flew into Baltimore, took a bus to the train station, rode the train into Washington D.C. and finished our journey on a streetcar. We have ridden rapid transit systems before but this would be our first trip by train and our first time navigating travel with a wheelchair. It turns out public transportation is very wheelchair accessible on the east coast. Kudos to the ADA.
Meeting our fellow advocates
Sunday evening we met our fellow superficial siderosis advocate Kyle Dempsey along with many other excited advocates. Some were first-time attendees like we were and others were veterans like Kyle. Kyle has been very active preferring to stay out of the spotlight but working hard behind the scene for superficial siderosis.
We met for a day-long legislative conference training session on Monday. The morning was spent in a large group listening to speakers from Capitol Hill and patient advocacy organizations on building effective relationships with Members of Congress and introducing your legislation. The afternoon was smaller groups learning how to present your information, writing and practicing delivering your ask, and how to shape specific legislation. Next, we were meeting with other advocates from our home state. Eight rare disease organizations were present from Texas. We made plans to walk to Capitol Hill as a unified group in the morning.
Lobby Day Breakfast
We had five meetings scheduled for lobby day. We missed one because we were asked to stay past the end of the meeting time. I feel very positive about our day. I discussed the copay burden some of our community are shouldering, a request for legislative help with securing funding from the NIH and NCATS for research, further clinical trials, alternative treatments, and deterring the frequency of misdiagnosis.
Texas Senator Ted Cruz
The FDA defines a natural history study as “the course a disease takes in affected individuals from the time immediately before its inception, progressing through a presymptomatic phase and different clinical stages, to outcome in the absence of treatment.” For most rare diseases, natural history data and information is either not available or incomplete. We asked for legislative help with obtaining funding from the FDA Natural History grant program to collect data on how superficial siderosis progresses over time, so data is available to support and develop new and existing therapies. Last, we asked for legislative help to secure a grant for Dr. Levy to further his research.
2019 Rare Disease Legislative Conference
Will we be successful? I certainly hope so. Our Senate office asked we include our House Office contact information when I send the background information on Monday so they can work together on our requests. You can be sure I will be following up on our correspondence.
Wednesday we attended the bi-partisan Rare Disease Caucus briefing. Speakers included Senator Amy Klochubar (D – MN), Dr. Chris Austin – NCATS, Janet Maynard – FDA, Angie Rowe – Global Genes, Pilar Magouloas MS, CGC – Texas Children’s Hospital, Dr. Marshall Summar – Rare Disease Institute, and Representative G.K. Butterfield (D – NC).
Senator Amy Klochubar (D - MN) - YouTube
Rare Disease Congressional Caucus Briefing Senator Amy Klochubar
Thursday morning we headed to the National Institutes of Health in Bethesda, Maryland where Kyle and I spoke with Ingrid Frey, Office of Patient Recruitment about expanding their research to include superficial siderosis. At noon, we traveled towards Johns Hopkins in Baltimore where it was our pleasure to represent The Silent Bleed and present Dr. Levy with a check earned from the hard work and fundraising efforts of Jason, Amanda, and everyone else who helped.
Dr. Michael Levy
After an excellent dinner of Maryland crab specialties, we headed home very tired but more importantly very hopeful for our superficial siderosis community future.
Living with Superficial Siderosis will be heading to Capitol Hill in Washington DC this weekend to join with fellow rare disease advocates, patients, and caregivers from across the country. Representatives from all fifty states will gather to share experiences, tell their stories and discuss with our legislatures how important we as a community count on their much-needed support for an increase in the annual discretionary funding for the National Institutes of Health (NIH) and support an increase in funding for the Food and Drug Administration (FDA) in the Fiscal Year 2020.
Monday, February 25th, we will spend the day learning how to effectively meet with legislatures, practice strategies with our advocate group members, and prepare to make the most of our day on Capitol Hill.
Tuesday we head to the hill to spend the day meeting with multiple Members of Congress and their staff with our plan to lobby for legislation important to our Superficial Siderosis community. Number one on our agenda is support for increased funding for research grants.
What Can You Do?
Ask your Members of Congress to join The Rare Disease Caucus. RDLA (Rare Disease Legislative Advocates) will find your legislators for you. Follow this link, enter your address and add a personal note about why their support of The Rare Disease Caucus is vital to you. If your legislator is already a member of the caucus, then can send a thank you letter to your legislator instead.
The Congressional Rare Disease Caucus is a bipartisan platform where members of the House and Senate discuss constituent concerns, join forces on ideas, open doors for a dialog between the medical and patient community and solicit support for favorable legislation that improves the lives of people with rare diseases.
On Wednesday, February 27th, we will be attending a Rare Disease Congressional Caucus briefing from 2:00 pm – 3:00 pm EST. Titled “Rare Disease 101”, this briefing will provide insights on rare diseases and the impact on patients and their families. Everyone can watch this briefing from the comfort of their home on Wednesday, February 27th, from 2:00 pm – 3:00 pm (est ) by registering for the free livestream here.
Rare Disease Day February 28th, 2019
We will spend Rare Disease Day at the National Institutes of Health (NIH) on Thursday, February 28th. Speakers include leaders from NIH, the Food and Drug Administration (FDA), and representatives from other Rare Disease patient advocacy groups.
We have one additional stop planned Thursday afternoon as representatives of The Silent Bleed and the excellent work they do for all of our Superficial Siderosis community before we head home to Texas. We’ll leave the telling of the details of this portion of our trip to The Silent Bleed.
One Last Thing
We are asking every member of the Superficial Siderosis community, patients, caregivers, medical, and advocates who are on Facebook to use the Rare Disease Day profile frame for one week starting Sunday, February 24th until March 1st. It doesn’t matter where you live. There are Rare Disease Day events planned all over the world. You can add the frame from this link.
Our stories may be unique but we are all the same.
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?
Get up Make Coffee Take Pills Go back to bed.
In our home, we use all the tricks. Multiple hourly phone alarms complete with vibration and flashing strobe light. Making sure of the visible placement of two giant pillboxes with pretty little spaces so your day can be compartmentalized by the dose of the hour. Piggybacking dose time to daily tasks.
I shut my alarm off and fell back asleep.
Day by day dose variations help muddle things up. This pill, take one in the morning, three in the evening but only Monday through Friday That pill, two tablets three days a week, one tablet four days unless they call and you add or subtract a dose next Thursday. Is your head spinning yet?
I forgot to bring my pills; I have to go back home.
When you’re fighting short-term memory loss, mild cognitive impairment, or constant brain fog it’s not only frustrating, it begins to feel slightly terrifying.
I can’t remember, did my alarm already go off?
There must be a solution, or at the very least some sort of safety net, we haven’t discovered. A phone tied into hearing aids seemed to be a good system but time has revealed the kinks. Forget to wear your hearing aids, and everyone in the house hears the alarm but the one person who needs it. Walk outside and forget your phone is inside when your alert goes off? You tell yourself you’ll take your meds as soon as you step back inside but will you honestly remember? No, you won’t.
My Wednesday noon pill is still in the box.
Nine different dose times a day was so confusing we sat down with a pharmaceutical doctor to see if things could be streamlined. When you have multiple specialists at different facilities medication coordination can fall through the cracks. By reviewing a complete list of Gary’s medications, she was able to explain just precisely which meds should not be taken together, what really needed to be taken with food or needed an empty stomach.
The doctor worked her scheduling magic, and we left with a revised schedule of four times a day. Two pillboxes became one by combining compatible medications. -A small but welcome change in a positive direction.
I put the wrong pill in my box.
The next step? Most likely will involve having the alerts synced into my phone. This solution might be helpful to couples but what about those who struggle to survive memory problems alone? We had tried keeping a hidden emergency stash of meds in our car for those times when we left home without them but remembering to replace them never happened before they were needed again.
As frustration and fear continue to grow, we hope that an answer out there. We just need a solution to find us.
Amanda Fearn-Banfield is a creative wordsmith. This wonderful British fireball is not only the behind-the-scenes force responsible for navigating The Silent Bleed Superficial Siderosis Charity through the complexities of the UK but also keeps the charity website, www.thesilentbleed.co.uk fresh with the latest information.
If you visit the Silent Bleed website you will find they offer an online donation opportunity. They will happily accept one-time donations or if you are generously inclined you may now schedule a regular monthly gift. https:/www.thesilentbleed.co.uk/donate
I’m currently a freelance copywriter – so that’s words for websites, brochures and even beermats and bag labels in the past. I work with startups and large companies – the agency I work with has just landed a contract to rebrand a city, which should be interesting. I spent years working in office management, which helps with the practical side of running the charity.
How would you describe your role at the Silent Bleed?
I’m one of the founders and I’m a trustee. I do as much research and writing as time allows – I also have a family to care for. Most of my charity time these days is taken up with making sure we’re compliant with the UK Charities Commission and keeping the website up to date.
What inspired you to help set up the charity?
When my fellow trustee and founder, Jason Roberts, was first diagnosed, there was very little information about superficial siderosis out there. Thankfully, blogger Dave Hill had started the ball rolling with his site but I needed to find out more about treatment options and where to go next. It was Jason’s idea to start the charity so that no-one had to feel that alone again.
What does the Silent Bleed Superficial Siderosis charity do?
I see our role as a hub. Becoming a registered charity involved hours of work preparing lengthy documents but that was back in 2016 and now things are moving along really well.
We’re hoping to expand our grant-making scope this year as until now, most of the money we’ve raised has gone to Dr. Levy at Johns Hopkins for research. Because the way we operate is tightly regulated by the UK Government, I think it provides reassurance that we’ll handle other people’s kind donations with care and respect.
Our website is also home to Dr. Levy’s Q&A. With a condition as rare as superficial siderosis, experts are hard to come by, so by providing this service, people can pose questions, we send them off and Dr Levy replies. It’s a well valued resource, I think.
We have a small but dedicated support team for carers, family and friends of those with superficial siderosis as well. Janice Toovey, who has a son with the condition, has been running support on our Facebook page for a while now. Helping countless people through a very difficult time. I’ve met her and her son a few times now, they’re lovely people.
What’s it like working with Jason Roberts?
Exhausting. I can’t keep up with his ideas – but he does make a good coffee and he’s always got a packet of jaffa cakes to hand. He’s a professional fitness instructor so he’s helped me no end with my outdoor pursuits.
What’s your vision for the future?
A cure, obviously, but also more research into the cause – why some people with a spinal/cerebral bleed develop superficial siderosis but the majority don’t. We met with Dr Levy and Prof. Werring at Queens Square a couple of years ago and would like to think that there will be greater collaboration in the future.
For now, we’re looking to up our game with fundraising and awareness. We publish a leaflet and of course, there’s the website but we’re hoping to reach out more with social media in the coming year. We’re also looking for new and innovative ways to fundraise as well as getting more people on board to help. We’re a small team with big dreams.
Apart from the Silent Bleed charity and your writing career, what other interests keep you happy?
I’m an avid plus-size runner, cyclist, rambler and blogger. I love being outside, which is just as well because I have an allotment*, which keeps me busy. Once a year I go away to a retreat in the Dordogne to write my novel about love, loss and peaches – my aim is to finish it this year.
I have two children, who take up much of my time and I go home to my family in Cornwall, where I grew up, as often as I can. My husband and I are film buffs but with so much going on, we don’t get to go to the cinema very often these days!
*Note for our US readers, an allotment is a vegetable/flower space British city dwellers can apply for to keep a connection with a garden.
Amanda Fearn-Banfield is a freelance writer, sensory tourist, runner, gardener, and budding novelist. She and her husband enjoy life with their children, family and friends. You can follow Amanda’s wonderfully entertaining blog, http://www.queenofsmallthings.co.uk or find her on instagram @queenofsmallthings
Contact Amanda at https://www.thesilentbleed.co.uk
Fiona Parkinson has a busy life. This active 45-year-old Australian juggles her duties of tending her family’s small hobby farm, animal menagerie, preserving award-winning homegrown food, and mothering three handsome...