a rare disease advocate’s triumphant dash through a medical maze

A Rare Disease Advocate’s Triumphant Dash Through a Medical Maze

By Jeffery Newholm

A conversation with Wes Hale, rare disease warrior

As February, Rare Disease Month, nears its conclusion, the crusade against Superficial Siderosis is taking another turn towards the checkered flag. Below, Wes describes his fight with an out-of-tune medical system that was not prepared to diagnose, let alone treat, the progressive disorder accurately. However, Wes refused to let indifference’s power rock the last note. He details the tremendous progress that the SSRA and its warriors have made for him and his fellow patients. Although success against the disorder takes continued effort, Wes proves that SS and its associated defeatism are fundamentally out of tune with our shared humanity.

Wes, tell us a bit about your family and interests

wes and doris rare disease advocates
Wes and Doris

We are a blended family. My wife and greatest supporter, Doris, have been together for 30 years but have known each other for 46 years. We have four children, two girls and two boys, and six grandchildren. I have had a number of interests over the years, including photography, fly fishing, motorcycle riding, kayaking, traveling, and live music. One of my passions is music by the Grateful Dead, and the side projects its members have been involved with. Over the years, we have been to hundreds of live concerts and festivals.

What has your journey with your fight against SS been like?

I often describe having Superficial Siderosis (SS) as death by 1000 cuts. It is a slow and progressive condition. As my SS progressed, I had to give up most of the above interests. I can’t hold a camera steady because of the need to use adaptive equipment. Wading in a stream is out of the question. I had to give up my Harley due to difficulty moving my legs fast enough when stopping or walking to the cashier at a gas station. I can no longer lift a kayak or get it to the water. Of course, there is hearing loss and very limited seating at concerts for wheelchair or scooter users.

When I started with increased symptoms of gait and balance problems, intense headaches, and mild hearing loss, my primary doctor sent me to a neurologist. It turned out that the doctor was a pompous ass. After a year of testing, MRI, and various medications, I continued to decline rapidly, and I was no closer to getting a diagnosis.

My wife, a Registered Nurse, accompanied me to my last appointment. We were seeking a diagnosis and prognosis so we could be preparing for future care needs. The doctor said my problem was multifactorial and he could do the million-dollar workup, but the insurance company wouldn’t pay for it. He then decided to wash his hands of me and suggested perhaps I should go to an academic setting where they would have more time to try and find a diagnosis.

I did just that; I went to Albany Medical Center and was seen by one of the neurologists who specializes in ALS, MS, and movement disorders. He took an active interest and explored familial connections, as my father had a severe form of MS, and several cousins had some neurological problems. The insurance company would not pay for more lab testing at one point.

My doctor was at wit’s end and suggested I see a Neuropathologist. Dr. Arnulf Koeppen, MD, was that doctor and has published scores of articles in professional publications on SS and other Ataxia. After many months, I was able to get an appointment. He did a comprehensive physical and reviewed MRIs from several years previous. He diagnosed me with SS and showed where the iron deposits were on my cerebellum, 8th cranial nerves (hearing), and various lesions on my spinal column.

With the diagnosis, I did what every doctor tells you not to do: I went to the Internet. There, I found info about Dr. Levy. He was at Johns Hopkins and was studying Ferriprox and its ability to reduce the iron deposits in the brain and spinal column. I contacted him but found the study enrollment was complete, and I could not participate. My doctor contacted Dr. Levy to see if he would share his protocols for using Ferriprox, which he gladly did.

Now, the problem came in getting our health insurance to pay for the cost of the drug, which was approximately $7,000 a month. After repeated denials due to its being an off-label use, After appeals, the insurance company approved the drug for 12 months. During this period, studies were done to see if the bleeding could be identified but were unsuccessful. I would have to fight to get the use approved for an additional year every year. This went on for about nine years. Just last year, the insurance company approved its use until 2050.

My doctor at Albany Med relocated to another state, and none of the neurologists in the department were thrilled to take me on because they were not familiar with the lab work monitoring. I was able to cobble a collaboration with one of the neurologists and a Hematologist until I could get established as a patient of Dr. Levy.  

It was very frustrating to get classified as disabled by Social Security, enabling me to collect my full benefits. It took years, as this was before Social Security recognized SS as a qualifying condition.

How has it helped you to find and talk with others with SS to learn what your future might hold?

When I searched the internet, I stumbled onto a site run by Dave Hill. I believe Dave was in New Zealand and had SS. He published a newsletter about SS. He and others shared how SS was affecting them. People on that website were from around the globe, primarily from English-speaking countries. It was the precursor to the Superficial Siderosis Research Alliance (SSRA) and Silent Bleed groups on Facebook. Being able to communicate with other SS patients, you know you are not alone, and others understand what you are going through. People on these websites are in different stages of their SS progression. It can give you an idea of what may be in store for you and how others have dealt with similar situations.

SS is a rare disorder; what successes and frustrations have you experienced in communicating with those willing to help but who knew little (if anything, sadly) about the condition?

About ten years ago, I fell and shattered two vertebrae. I had to have surgery to put rods in spanning T10-L3. After surgery, I went to acute rehab. The physical and occupational therapists, as well as the doctors and mid-level staff, were in a quandary as to how best to establish my treatment as I was the first patient they treated who had SS. The SSRA offers an excellent pamphlet about SS. I give them a copy whenever I see a new provider. It helps to begin the discussion about my current symptoms. I never assume they know anything about SS.

What makes you so driven to help with the SSRA cause, and what can readers do to help our passionate work for research and, goodness willing, a cure?

The SSRA is an excellent way for people with SS to learn from their peers. I have seen people share info about medications and how to deal with many of the symptoms like gait or elimination. They have a paper on documenting your condition for Social Security Disability Insurance. Beyond that, SSRA is investing in research on how the condition can be better diagnosed and treated. A person getting this diagnosis now doesn’t have to start from scratch to learn about their condition and how to best navigate the medical and financial fields. For example, where can you find access to Ferriprox overseas if insurance is not an option?

People can support the SSRA through donations and fundraisers, and if you have SS, consider donating your brain to Dr. Levy at Mass General for research. Hopefully, this will lead to a cure.

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