Living with a rare neurodegenerative disease
In April 2015, Fiona Parkinson went from an ordinary Mum of three boys who worked part time and worked on the family’s hobby farm, to having to walk with a stick.
It took seven months to be diagnosed with Superficial Siderosis, a rare neurodegenerative disease.
“Over the seven months I had a massive battery of tests and saw neurosurgeons, neurologists, physiotherapists, audiologists and an ear, nose and throat (ENT) specialist. I had CT scans, five brain and spine MRI’s, a brain angiogram, blood tests, eye tests, balance tests, hearing tests and vestibular therapy.
“No one could tell me what was wrong. Then my ENT specialist told me that my balance tests suggested that I had a central disorder. I asked what that meant and he replied multiple sclerosis (MS), Parkinson’s, or something like that. He suggested that I find myself a good neurologist.”
Before making an appointment with a new neurologist, Fiona wanted to gather the results of all the tests she had, so she didn’t have to go through them all again.
“It was after obtaining copies of my MRI reports that I first learned of Superficial Siderosis. It was mentioned on one of my MRI reports – extensive Superficial Siderosis. I didn’t know what it was, so of course I Googled.”
However, Fiona couldn’t find much about Superficial Siderosis on the internet, but from what she did find it said that she would eventually become deaf.
“I had just had a hearing test done and my hearing was perfect. Hoping the report was wrong I scheduled an appointment with a new neurologist for their opinion.”
In November 2015 Fiona had her appointment with the new neurologist who specialised in MS as she was pretty sure that was what she had, as many of her symptoms matched to what she had been reading online.
“My husband and I went off to the appointment where it was confirmed that I didn’t have MS, I had Superficial Siderosis, a degenerative disease of the brain and central nervous system. It is usually caused by some sort of trauma or surgery, which creates bleeding into the central nervous system.”
This blood then travels through your spinal fluid and leaves iron deposits on your brain, cranial nerves and spinal cord. These deposits are toxic and cause nerve and brain damage.
“Superficial Siderosis shares many symptoms of other neurological diseases and has been described as a cross between MS and Parkinson’s disease. There are many symptoms relating to this nerve and brain damage, but the main ones are hearing loss and balance/ataxia due to cerebellar degeneration.
“Many doctors have never even heard of Superficial Siderosis, let alone seen or treated it. It is an incredibly rare disease. Although it was clearly mentioned on my MRI report by the radiologist, it was dismissed by the doctors, most probably due to its rarity.”
Through social media Fiona became a part of a group of people from around the world who have this disease.
“There aren’t many of us, but we support each other, sympathise, advocate, encourage and understand, when many others, including our families can’t.”
Through this network Fiona became aware of a drug trial being conducted for Superficial Siderosis in America.
Dr Michael Levy from the Johns Hopkins Hospital in Baltimore was conducting trials with a drug called deferiprone or ferriprox. It is an iron chelator, used primarily in treating patients with Thalassemia, a blood disorder involving lower-than-normal amounts of an oxygen-carrying protein.
Deferiprone is the only drug found to cross the blood-brain barrier able to remove iron. No other iron chelator can do this. The hope is that by removing the iron deposits from the brain and spine, further degeneration will stop.
However, there is no cure for Superficial Siderosis and that deferiprone is the only drug that has been trialled for treatment and is the only treatment available at the moment.
“Through our Superficial Siderosis Facebook group, I met a member who also lived in Victoria. He knew of my frustrations in trying to find a neurologist to help me. I wanted to be on the deferiprone but couldn’t find a neurologist willing to prescribe it for me.
“Its use in Australia for Superficial Siderosis would be off label and require applications for permission. My friend suggested his neurologist. He had seen Superficial Siderosis in my friend and because of that had already researched and knew about the deferiprone.
“I am incredibly lucky to say that thanks to my friend, this neurologist is now my doctor. I see my doctor every six weeks and have weekly blood tests, as I have been lucky enough to have begun chelation.
“I have been on deferiprone for five months so far. It is too early to know if it is helping stop the progression at this stage. Hopefully after six months, a new MRI may show a reduction in the deposits on my brain. We still don’t know the cause or source of the bleed I have had which has caused my Superficial Siderosis.”
Fiona’s primary symptom continues to be her balance, as most of the iron on my brain is on her cerebellum, which coordinates movement such as posture, balance, coordination and speech.
“Some days are worse than others. A lot depends on how tired I am, which is pretty much all the time, especially after taking the deferiprone. After doing vestibular rehabilitation I rarely need to use a stick now for walking, mainly just if bush walking or hiking on uneven surfaces. Walking at night remains difficult though.
“I get severe headaches and have a lot of problems with my eyes. My vision is unchanged but my eyes hurt constantly. I get visual vertigo and have issues with bright lights, which means I can’t drive very far these days.
“This is really hard on my family as it means I can’t take my kids to a lot of places they want to go, particularly through school holidays and I am reliant on my husband for much more than I’m sure both of us would prefer.”
Reading and memory are also issues that Fiona experiences, in particular remembering people’s names.
“I’m not sure if this is from the Superficial Siderosis or just my brain is overwhelmed trying to stay balanced.
“I am starting to have bladder issues but at this stage I am still incredibly lucky that my hearing is still unaffected. The hope is that by taking the deferiprone, it will remove the iron deposits before hearing loss begins.
“For sufferers of Superficial Siderosis, our hope is for education and research into our condition. Many doctors are unaware not only of the disease, but also the disabling symptoms that are an everyday part of it.
“We welcome doctors, students, researchers or anyone interested in learning more to look through the websites and Facebook groups that are now out there and full of information.”
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