After Your Diagnosis

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Our first suggestion is to print all the information and research available. Organize your printouts and present a copy to every new doctor during your initial appointment. You need to familiarize yourself with the possible clinical symptoms and match any you may be experiencing. Every case is specific to the individual, so no one experiences evey symptom, thank goodness.

Looking back on discussions in our Facebook superficial siderosis group, we’ve found some people go many years with only slight symptoms while others progress at a more rapid rate. The reason why is unclear; maybe some patients were able to have their bleed stopped before there was a massive build-up while others still have ongoing unrepairable bleeds. It is important to remember, the rate of decline is unique to every individual.

Prepare for roadblocks

Our neurosurgeon was searching for a tumor when he sent Gary in for a new MRI series in 2014. Our personal journey finding answers to the symptoms Gary was experiencing was exhausting. One small paragraph at the end of the radiologist report would alter our lives forever.

IMPRESSION: Diffusely abnormal decreased signal of the meningeal surfaces more pronounced about the brainstem, cerebellum, and basilar cisterns. There appears to be mild associated cerebellar atrophy. The MR findings, as well as the clinical report of dizziness and hearing loss, are consistent with superficial siderosis. The abnormal decreased signal is observed primarily on the T2-weighted series correlating with the pial and ependymal surfaces most pronounced about the brainstem, basilar cisterns, and cerebellum. Findings correlate with hemosiderin deposition in a pattern of superficial siderosis. Etiology for superficial siderosis is presumed to include episodes of subarachnoid hemorrhage although not always clinically evident. Sensorineural hearing loss and cerebellar findings, by a report, are often presenting symptoms and appear to correlate in this case.

When our neurosurgeon called, he explained all of Gary’s scans were clear with no sign of new tumors; we should proceed with our ENT’s plan. Gary was to travel to an otolaryngologist because of his rapidly declining hearing. Gary being nosy,  popped his copy of the MRI disk into his laptop, and read the radiologist report himself. Hmmm? What is this superficial siderosis the report references?

I spoke with the neurosurgeon’s nurse about the radiologist’s findings and read her a list of superficial siderosis symptoms I found on the Dave Hill Blog site. When she relayed our conversation to the doctor, his response was, “It’s so rare. What are the chances he even has that?” Our neurosurgeon had been a professor at a well-known medical university. If a former university professor had never seen a case involving superficial siderosis, then chances are neither has your doctor.

The bottom line is it is challenging to find a neurologist who is both willing to accept a superficial siderosis patient and prepared to research treatment.

There was a 12-month wait before our local neurologist would accept a new patient, so we found an excellent one 100 miles away. Dr. Allison Hennigan was a kind, and more importantly, interested physician. Be prepared to travel if needed.

Do You Have An Active Bleed?

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Your next step after diagnosis should be to find out if you have an ongoing bleed. A lumbar puncture may help confirm if there is still blood in your spinal fluid but it will not work if your bleed is intermittent. A CT Myelogram is now the preferred method to locate an active bleed from a dural defect. If a source is located you should consult a neurosurgeon about trying to have the bleed ablated.

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If your MRI report states superficial siderosis is present, then you have hemosiderin deposits present. The Mayo Clinic has reported excellent results with a complicated bleed repair. Unfortunately, the existing hemosiderin deposits will continue to be problematic. Neurotoxic to nerve function, patients will continue to decline slowly as long as the hemosiderin remains in place.

Considering Chelation

We have no idea who first decided to try and remove the hemosiderin deposits. Early chelation trials must have failed. The problem? No drug could cross the blood-brain barrier. Dr. Michael Levy was a member of the Johns Hopkins research team conducting a 90-day pilot study testing the safety and efficacy of Deferiprone  (Ferriprox®). This lipid-soluble iron chelator was able to cross the blood-brain barrier on ten patients. The results of this early study were promising enough to expand the research with additional candidates. This comprehensive study was published on December 28, 2017. You may read and download a copy of this study on our website.

In a May 19, 2015 post to our Facebook group Dr. Levy reported:

To all SS patients on Ferriprox or thinking about Ferriprox, I want to take this opportunity to clear a misconception about the expectation of this drug. Ferriprox is an iron chelator, a small molecule that binds iron. The unique property of Ferriprox that makes it suitable for SS is its ability to dissolve into the spinal fluid and chelate iron on the surface of the brain and spinal cord. While Ferriprox is chelating the iron in an SS patient, it should not make the patient feel better in any way (except psychologically maybe?). Remember, symptoms from SS are due to damage to the outer layer of the brain due to iron toxicity from the adjacent siderosis layer. As long as the siderosis is present, the damage it causes continues even while the iron is being chelated. SS patients should expect to continue to progress in their SS disease until the iron is gone and healing can start. In my experience, it takes two years in most patients to begin to see reductions in the siderosis extent by MRI. Those brain areas that have been cleared can begin to heal while neighboring siderotic brain tissue is being damaged. Since I’ve started using Ferriprox in 2010 (the majority since 2012 when the drug was FDA approved in the US), only a few patients have managed to clear all or most of their iron, and in those patients, we saw the most clinical improvement.

Chelation therapy is still considered a very new treatment option that has strict requirements of its own. Our neurosurgeon suggested we needed a neurologist to oversee treatment. Our PCP was willing to begin chelation once we discovered finding a neurologist was going to be delayed but decided to refer us to a Hematologist.

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In the end, we found some very engaged physicians. That’s what you need to look for in a doctor. Our hematologist and neurologist have both emailed Dr. Levy for advice. Dr. Levy freely gives his time to answer any physician who contacts him.

If your doctor tells you there are no options, find a new one. If your doctor says you there is nothing to worry about, find a new one. Never settle.

19 Comments

  1. For me, it started with my left arm with no feeling/movement. Thinking I had a small stroke my Dr. ordered an MRI of the brain. The report came back with no stroke but SS. A second MRI was ordered of the spine and the neurologist sent it to a neurosurgeon. The Nurosergion kicked it back and said I need a CT scan. After dye was injected a spinal fluid leak was discovered in the upper spine area. My Nuerologist recommended either a blood patch or surgery and advised to start with the blood patch. My question, where do I go from here?

    • Hi William, I’ve sent you a .pdf that contains an explanation on the three types of recommendations for dural defect repair. I’m sorry it took so long to respond but we were in the middle of making this new info packet and I wanted to be able to share it with you.

  2. Hi my name is Heidi and have been diagnosed with Siderosis. I have spent much of my young life with many physical problems from birth. Born with scoliosis, and neurofibromatosis 1. I had three back surgeries before the age of 14. Lost my mother at that age. Talk about hating school is just the start. I worked full time at a nursing home just to prove to myself and others, can’t keep this girl down. My last back surgery was at the age 36. That did it. Could no longer do the job I loved. In 2008 they notice something on my MRI’s but never said anything. In 2017 I started falling. First broke my leg, year later my foot, now this year I broke my wrist. In about 2018 is when I think they diagnosed me with SS. So much anger because nothing was ever told me. Now I need this medication and can’t afford it. Finding this site on facebook was so helpful. Will be talking with Dr. from Mayo in about two weeks. So looking forward to this. Best of luck to all. May God help us all.

    • Hi Heidi, I’m glad you were able to make arrangements with the Mayo Clinic. They are excellent! Many of the SS patients are in the same boat as you in regards to the out of pocket cost of deferiprone. There were a few organizations who helped with copay but they often run out of funding. I know I mentioned the generic formulation becoming available next year but it’s hard to wait that long.

  3. Hemosiderin in superficial siderosis patients forms when your body attempts to protect itself from the free-iron released when individual blood cells break down. In a neuroprotective response, astrocytes release ferritin proteins to attach and surround the free-iron molecules. The resulting ferritin and free-iron product is hemosiderin. Since hemosiderin is not soluble, gravity pulls it to the subpial surfaces where it attaches to the pia mater. While hemosiderin does store excess iron for later use in other areas of the body a build-up in the brain and spine CNS cause neural tissue toxicity when free-iron molecules eventually escape.

  4. Hi my mother recently received this as a diagnosis after several MRI s they believe from being or receiving a hit on the top of her head at some stage long ago from the results … she has no current bleeds .. and they seem to have stalled as in what to do with her?? She lives in Tasmania, Australia

  5. I have SS and am looking for a doctor to help me I have gone completely deaf and have major balance issues I have gone to using a walker and cane because I fall down a lot Most doctors don’t even know what it is I really need to find advice on what steps to take in helping me with all these problems I live in Michigan and want to understand this I would like to talk with others that have it as well My tastes and smelling has pretty much gone as well I taste iron in my mouth sometimes is this common Major headaches dizziness pain nausea the list goes Help Please ♥️

  6. I am wondering if there is a network of people or Doctors
    My mother in law was diagnosed with SS years ago….we are looking for information support…anything we can do help her I don’t even know where to start
    Living in Canada there is not a lot of people who have it

  7. Maggie MacCallum-Dittmeier

    Still processing my diagnosis, hope to hear results of lumbar tap today. Thankful to find this site!

  8. They have shown the body shunts iron from tissues to make new red blood cells, so in theory, slow calibrated phlebotomies, less than the usual amounts taken at a regular blood donation, would cause iron in those tissues which do not require iron, to be released more easily, to make red blood cells. Is phlebotomy used on all patients as a treatment?

    • A person with SS will have solid iron mass build up on their brain and spinal cord. It develops over time from blood infiltrating the spinal fluid. This blood is eventually absorbed, leaving a hemosideron residue. This leftover residue is what causes the damage (picture rust build-up). Phlebotomy is used successfully to control iron overload in the blood stream but will not remove the hemosideron. The only successful therapies are those that will cross the blood-brain barrier.

      • Hemosiderin is the long term storage form of iron which is accessed when iron is needed to make red blood cells.

        • Hemosiderin in superficial siderosis patients forms when your body attempts to protect itself from the free-iron released when individual blood cells break down. In a neuroprotective response, astrocytes release ferritin proteins to attach and surround the free-iron molecules. The resulting ferritin and free-iron product is hemosiderin. Since hemosiderin is not soluble, gravity pulls it to the subpial surfaces where it attaches to the pia mater. While hemosiderin does store excess iron for later use in other areas of the body a build-up in the brain and spine CNS cause neural tissue toxicity when free-iron molecules eventually escape.

          • “Deferiprone Reduces Hemosiderin Deposits in the Brain of a Patient with Superficial Siderosis”

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