Recently I’ve been working on a new funding application for a much larger superficial siderosis research project. While this exercise requires listing and rewriting the exact details I share repeatedly, I realized the most crucial question is, why does superficial siderosis research matter? What separates our rare condition from the 7,000 other rare diseases and disorders to make us special enough to be granted federal funding? While this is a personal crusade for those whose day-to-day lives are directly impacted, in reality, we must provide ironclad goals and expectations as to why our research lab should be entrusted with a potential seven-figure grant.
Standing Out From The Crowd
Just recently, I logged into a Zoom meeting with representatives from 27 other rare disease organizations. Each with a gripping narrative and a shared concern. How in the world are tiny, undersupported, rare condition organizations supposed to gain access to research funding? This was when I realized our story needs to include one key element. It’s not why superficial siderosis research matters, but how. How will our research make a difference beyond our small patient community? How can we contribute to breaking down the collaborative barriers that exist in medical research? Wasting years and hundreds of thousands of dollars to reinvent the wheel makes no sense.
A Cliff Notes Picture
In some people, long-term bleeding into the central nervous system devastates the body’s natural defenses. As a result, when blood cells break down, neuro-toxic iron particles are left traveling throughout the spinal fluid. In the act of self-protection, your system reacts by releasing proteins to trap these iron particles by encasing them—however, long-term exposure to free-iron results in oxidative stress and inflammation toxic to the underlying neural tissue.
Superficial siderosis of the central nervous system is an intensely incapacitating neurodegenerative disorder affecting the brain and spinal cord. The medical term for this variation is infratentorial superficial siderosis, type 1 (classical) (iSS). It differs from the more widely recognized cortical superficial siderosis (cSS) in symptoms and prognosis, but both variants have one mutual element: iron toxicity and oxidative stress.
The 10 million dollar question is how do we remove this iron from the tissue surface, thereby stopping neural damage and allowing for healing. Healing, of course, remains an entirely separate problem.
Different But The Same
Iron toxicity and oxidative stress are problematic in many neurodegenerative diseases and disorders. For example, iron-induced oxidative stress has been noted in Parkinson’s, ALS, Multiple Sclerosis, Alzheimer’s, Friedreich’s Ataxia, and Huntington’s disease, to name a few. These are all complex conditions with many disease characteristics. As a result, millions upon millions of dollars in funding support research.
What would happen if oxidative stress were removed from the equation?
One Answer So Much Good
Our lead researcher, Dr. Michael Levy MD, Ph.D., will tell you the beauty of superficial siderosis is simplicity. It’s a reasonably straightforward disorder with few complex characteristics. I am not saying our research is without difficulties. If the answers were easy, they would have already been discovered. So many questions require solutions. Genetics is a big one, but if our research could find a method of removing or stopping the source of underlying neural tissue damage? Discover a way to fight oxidative stress.
Our contribution to neurodegenerative disease research would be epic. This is how superficial siderosis research matters. The why will always be the people we love.
For Information on superficial siderosis symptoms and patient stories, visit livingwithss.com
National Organization of Rare Disorders (NORD)
Superficial Siderosis Clinic and Research Laboratory, Massachusetts General Hospital