Diagnostic Journey

… continued from Pompe Background

The year was 1986; I was 23 years old. I had just earned by bachelor’s degree (BA) with distinction in Anthropology with a concentration in Archaeology. I was already employed as an Archaeologist and Researcher with Sonoma State University and had enrolled in their graduate program in Cultural Resources Management (a.k.a. Historic Preservation).

For years, I had been experiencing a gradual loss of muscle strength extending back to my earliest days of grade school. The progression of weakness had been so slow and gradual that it hadn’t drawn serious concern from others around me. I had adapted as best I could to that point. But by my early 20s, routine tasks were becoming more difficult. I had lost my ability to run at all. I had come to rely on a railing to climb stairs; if a staircase didn’t have a railing, it was very difficult to make the ascent and I ran a very real risk of falling. I was still able to ride a bicycle but that had become increasingly dangerous. Getting myself upright from sitting or squatting now involved a system of gradual leveraged moves, leaning on furniture, or walking my hands up a wall. In addition to the physical strains, my breathing was also becoming more shallow. Any activity that required physical exertion quickly became depleting and exhausting. As I navigated the increasing physical demands of a career in Archaeology, my body simply began to give out. At night when I was sleeping, I would develop knots in my lower back the size and hardness of golf balls accompanied by severe spasms.

After discussing this new development with my mother, she located a clinic in Marin County that focused on back mechanics. I attended a few of their sessions. The clinic operated as a targeted physical therapy unit that instructed participants how to properly lift and move heavy objects (“use your legs!”) and to help relieve and heal back injuries. After just a couple of visits, their therapists asked to meet with me in private and explained that they felt I had other physical issues at play than just lifting things improperly. They referred me to a Neurologist.

Initial Diagnosis

My Neurologist visit was brief but life altering. After a short interview, the physician conducted some basic strength tests that have become familiar to people living with Pompe Disease. He instructed me to resist his efforts as he bent my wrists & arms, my ankles & legs, and as he pressed against my forehead. After this quick survey, he asked me to wait while he left the room. When he returned, he flatly announced that I had Muscular Dystrophy. I was dumbstruck. It seemed inconceivable to me that I could have lived 20+ years with no one identifying such a serious condition and that this man could make that diagnosis in literally a matter of minutes. I questioned his judgement and conclusion, and in stereotypical fashion, he encouraged me to get a second opinion, qualifying his advice by saying he was fairly certain I had MD;  it would be years before I would seek another opinion. When I asked him to explain the long-term prognosis for this condition, he bluntly reported that Muscular Dystrophy has no effective treatment or cure. It was a progressive condition, he explained. He told me I should expect the muscle weakness to continue to get worse; the rate of that progression was anybody’s guess. He explained that MD often advances to a point where it affects the body’s vital organs, like the heart. He projected that I should anticipate a shortened lifespan and that Muscular Dystrophy would likely result in my death. He suggested that the most that can be done for MD is to keep the patient comfortable until the disease runs its course.

I recall returning home after that Neurology visit. I was 23 years old. I had just graduated from Sonoma State University with honors, had entered graduate school, already had exciting work in my field, and was on the threshold of a promising career in Archaeology. And over the course of a short afternoon doctor visit, all of that was effectively over. All the years of wondering why I was so different from everyone else around me … all the years of wondering why things were so much more difficult for me … all the years of self-criticism, feeling like I was awkward, clumsy, broken … finally had an explanation. At some level, I felt a massive sigh of relief … a release of the burden I had been carrying for as long as I could remember. This wasn’t my fault; I hadn’t done anything wrong. There was an explanation … a name I could give to these circumstances beyond my control. In that moment, I abandoned decades of judgement, shame, and embarrassment … and in the same breath, I realized that most of my hopes, dreams, and aspirations would never happen. I sat on the foot of my bed, and I wept.

Career Change, Part I

Initially, I continued my studies in Cultural Resources Management which included regular field work, mostly in Archaeology. My coursework included classes in historical research. In the History Department, I came under the mentorship of a History Professor who conducted sideline fieldwork in Public History. I began accompanying him in the field and learned how to read the built environment. I helped photograph and record historic buildings and conduct background research in Recorders and Assessors offices. I learned how to conduct property title searches and evaluate the historical importance of buildings, bridges, landscape features and ultimately whole townsites.

Eventually, I began to develop a skill set that was not well represented in the Cultural Resources Department and I was increasingly asked to accompany field surveys when historic buildings were anticipated. By good fortune, I discovered that while my body was ill-equipped to meet the demands of field Archaeology, I was generally able to access historic sites and buildings. After completing my coursework in Cultural Resources Management, I changed my major to History and began attending specialized courses in historic and vernacular architecture, both at Sonoma State and at the University of California Berkeley.

Within two years, the disappointment that accompanied the Muscular Dystrophy diagnosis and the realization that my career as an Archaeologist would be preempted was replaced with a very successful and lucrative niche as a blossoming Architectural Historian. I was invited to join the California Department of Transportation’s (CalTrans) Environmental Branch in San Francisco and became part of their team of Archaeologists and Historians while completing my history studies.

An Archaeologist colleague from Sonoma State University went to work with a private consulting firm and later formed his own company. At the time, I was one of the few cultural resource professionals with the training and skills to assess historic buildings and my colleague began to write proposals for projects that included historic properties. In time, I left CalTrans and went to work with him in private consulting. Within a year’s time, we landed a substantial contract to record the historic properties of Placer County, California. I relocated from Sonoma County to the Sierra Foothills and, there, grew as a successful Architectural Historian. My team recorded this historic towns of Dutch Flat, Gold Run, Newcastle, Foresthill, Loomis, Penryn, and scores of rural properties throughout the county. I eventually became a consultant for the California State Office of Historic Preservation in Sacramento and continued to work contracts for Sonoma State University, The US Forest Service, and the Placer County Department of Museums.

After leaving Sonoma County and while working in Placer County, I discovered an independent community radio station based in Nevada City, in neighboring Nevada County. A lifelong music and radio fan and a longtime supporter of public radio in the San Francisco Bay Area, I found a sense of place listening to KVMR-FM. I had left behind all that was familiar when I moved from Sonoma County. Tuning in to KVMR provided a touchstone to voices and music that seemed very familiar. When my Placer County project was winding down, I relocated to Nevada City. There, I lived in a cabin in the woods outside of town on Harmony Ridge.

Career Change, Part II

In Nevada City, I continued doing private consulting while working on completing my Master’s Thesis. But on my days off, I’d be down the hill, volunteering at KVMR. To make a long story short(er), I eventually left the fields of Historic Preservation and Architectural History and went to work for KVMR. That decision led me into a 25-year-long career in community and public radio broadcasting, development, and management.

For more on the transition from preservation to radio, click here.

False Confirmations

I was in my early thirties when I finally sought the second opinions that were suggested by the Neurologist who diagnosed my condition as Muscular Dystrophy (MD) in 1986.

I finally had some basic health insurance coverage and pursued further information about MD. I began to attend MD clinics at the University of California Davis Medical Center (UCDMC) in Sacramento. I underwent an Electroencephalogram (EEG) that sent electrical impulses through my nerve system in effort to rule out nerve damage. I also underwent a muscle biopsy wherein a sample of muscle tissue was removed from my thigh to examine patterns of muscle damage. These results of these tests and the examinations by neuromuscular experts at UCDMC were consistent with a diagnosis of Muscular Dystrophy. And because no one was considering alternative explanations, I continued to live with the belief that I had MD.

Muscular Dystrophy has many variations that range from less serious and/or potentially fatal to more. Initial investigations considered a diagnosis of Limb Girdle Muscular Dystrophy (LGMD) because the first muscle groups that were affected were my hips and legs. As my symptoms progressed and I began to lose strength in my neck, shoulders, and arms, my specialists began to consider a diagnosis of Facioscapulohumeral (FSH) MD. Conversely, because of my longevity and relative mobility at the time of those assessments, experts ruled out the Becker and Duchenne varieties of MD. Ultimately, my early investigative efforts resolved that I had some non-specific form of muscular myopathy.

Progression and Adaptation

As the years ticked off, my muscle weakness continued to progress. Living under the belief that I had Muscular Dystrophy and that no real treatments were available to slow that progression, I began to adapt to a life with a prognosis of continued deterioration and, ultimately, death.

  • 1996 – First Bipap.
    • In 1996, I had just been hired as the General Manager of Community Radio KVMR-FM in Nevada City, California. I came down with what I thought was a routine seasonal flu. My overall stamina had been failing for some time but, this time around, I couldn’t shake the flu symptoms. My breathing became irrevocably labored and with that, my mental acuity began to falter. I was living in a daily fog and eventually began to lose consciousness.
    • At work, after eating my lunch each day, I would become seriously drowsy and couldn’t stay awake. It became fairly common for me to lean over at my desk and effectively pass out for an hour or so.
    • One morning, while standing at my bathroom sink going through my morning routine, I passed out. I collapsed in the bathroom and caught my chin on the edge of the sink as I fell to the floor. I regained consciousness on the bathroom floor with my head in a circle of blood.
    • A few weeks later, I was driving to work in the morning when I passed out at the wheel of my pick-up truck. My vehicle went off the road, careened over a bank, through a couple of barbed wire fences, and came to rest in a pasture. Fortunately I wasn’t injured and miraculously, my truck sustained only a few scratches. I temporarily lost my driver’s license over that incident.
    • Not knowing what was going on, I sought counsel from my acupuncturist and practitioner of Chinese medicine. He sent me home with an herbal tea mixture. I warmed up a pot of hot water and began boiling the tea on the stovetop. I sat down on the couch while the tea simmered. Two hours later, I regained consciousness after having fainted. The pot of tea on the stove had boiled down to nothing and was filling the kitchen with smoke.
    • Even in my stupor, I realized that I was in grave condition. I called a friend and had him drive me to the Emergency Room. I admitted myself and, while the ER staff was running tests, I told them that I had been passing out. I mentioned that eating tended to bring on these fainting spells. That sequence had become so predictable that I suggested they give me something to eat and watch what happened. They brought me a sandwich. I took a couple of bites … and that was the last thing I remembered from that night.
    • Over an indefinite period of delirium, I had blurred images of looking up through what seemed like water … as if I were in a pool. I remember seeing blurred images of people looking down at me and a sensation of my eyes being irritated and burning. I had images of looking out a dark window with bright lights shining in at me.
    • When I regained my senses, I was intubated in the Intensive Care Unit (ICU) at UC Davis Medical Center in Sacramento. My family had been called in from the Bay Area after being informed that I was likely not going to survive the night. The images I’d had of looking up through what seemed like water and the eye irritation had been the ER staff in Grass Valley removing my contact lenses. The images of looking through a dark window at bright lights were my view out the back of an ambulance transporting me from Grass Valley to the ICU in Sacramento.
    • I remained intubated at the ICU in Sacramento for two weeks. I had been diagnosed with severe pneumonia. During my two-week stay, I went through a series of procedures in attempt to clear my lungs. I had saline poured down my windpipe to trigger fitful gagging and coughing and encourage me to expel the blockages on my own strength. When that proved ineffective, I was placed on an inverted table and had percussive vibrators applied to my ribcage to loosen the gunk that had settled in my lower lungs. Eventually, my medical team administered morphine and inserted a thin vacuum hose down through my breathing tube, guided by a fiber optic camera, to suck the fluids from my lower lungs.
    • In the final days of my stay at the ICU, after removing most of the blockages in my lungs, the staff removed the breathing tubes from my face and throat to allow me to breathe on my own. Shortly after, I was dozing one afternoon when I heard beeps and alarms going off. I was in a dream state and couldn’t awaken to respond to the noises I was hearing. I was trying desperately to wake up but couldn’t as I heard distant panicked voices. From above, I could see myself in my ICU bed with nurses gathered around me. For the first time since I had arrived in Sacramento, I wasn’t in pain or distress. I felt perfectly calm as I watched this triage scene unfold below me. Again, I drifted into sleep.
    • It was determined that, when I fell asleep, my body would stop breathing and my oxygen levels would plummet. I left the ICU in Sacramento for another week of rehabilitation at my local hospital in Grass Valley before returning home. I left UC Davis Medical Center with my first bipap machine to regulate my breathing while I slept. I’ve been using breath support ever since.
  • 2004 – Wheelchair.
    • As the years elapsed and my leg weakness progressed, it became increasingly difficult to walk. It also became difficult and dangerous to sit down and stand up. When I would go to sit down, I would essentially have to line myself up with a chair and let my body drop. Once sitting, getting my body upright involved an awkward, difficult, and dangerous regimen of leveraged maneuvers. In time, I required assistance with this process. Using public restrooms became a nightmare. I began to fall more and more often. When people were around, I could ask for help getting up. But if I was alone, it was nearly impossible for me to get back to my feet. By the early 2000s, I was living in a state of constant exhaustion and anxiety. One day at home, I was walking into my office and caught my toe on the carpet. I lost my balance, wrenched my ankle, and fell face-first on the floor. That resulted in a severely sprained ankle and a serious rug burn down one full side of my face. I had had enough. I went to see my doctor and got a prescription for a wheelchair. While my full power chair was on order, I got a folding motorized scooter. And while a period followed within which I was still able to stand and walk short distances at home, I’ve been a wheelchair user since 2004.
  • 2005 – Modified and Accessible Van
    • When I made the transition to a wheelchair, I had to address the challenge of how I could effectively and independently transition from my chair to my car … and how I would operate my car once I was in it. Initially, I was using a folding motor scooter while my full-size power chair was being built. I arranged for people to help me on each end of my trips, loading my scooter in and out of my car. But I was very aware that my legs were weakening to a point where it was becoming difficult to operate the gas, brakes, and clutch on my car by foot. I was fortunate at the time to know some well-informed and well-connected wheelchair users who informed me about a now-defunct program through the State of California Department of Rehabilitation that assisted disabled persons modify vehicles with adaptive driving systems, lift systems, and other customizations to permit them to remain actively employed. I applied to and was approved for that program. The program paid for a detailed evaluation of my physical abilities that resulted in recommendations for an adaptive driving system that would serve me as my weakness progressed. They performed detailed measurements of my new power chair and recommended an adaptive driving array known as The Scott System. I purchased a Ford E-250 cargo van and handed it over to a company based in Van Nuys, California called Driving Systems Incorporated (DSI). Over the next several months, DSI completely gutted the van and installed The Scott System adaptive driving system, lowered the floor of the van to accommodate my height in my new power chair, installed a lift system, and converted the vehicle from a cargo van to a passenger van including a rear bench seat, side windows, interior upholstery, etc. DSI delivered that vehicle to me on Thanksgiving weekend in 2005 and deployed a driving trainer who spent a full week instructing me how to operate my new vehicle. I still own and operate that vehicle. It has held up remarkably well for over 15 years.
  • 2007 – In-Home Care
    • For the first few years following my transition to a wheelchair, I was still able to stand to walk short distances. While I had embraced the use of a wheelchair for mobility, I clung stubbornly to the abilities I still had, feeling that if I let any one of those abilities go, I would lose them forever. In the mornings, I would get up and use my wheelchair like a walker to get me to the bathroom where I would, very unsafely, use the commode and shower on my own. This became increasingly difficult and dangerous to a point where I had to surrender to hiring in-home care to help me with my morning routine. I became acquainted with my local Independent Living Center (ILC) and they assisted me with finding and hiring a private in-home care provider. As much as I had resisted taking this step and allowing a stranger into my most private space and personal care, I soon came to realize that, like the other adaptive measures I had accepted, in-home care was extremely liberating for me. Accepting help conserved my energy and greatly reduced my stress, fear, and anxiety. I worked with a few different care providers before I found someone with whom I really connected. I’ve worked with in-home care providers ever since 2007. Those relationships have developed into some of the deepest and most lasting friendships of my life.
  • 2009 – Service Dog
    • I’ve always been a “dog person.” Growing up, my family always had one or two dogs in the house. When I was in my late 20’s, I got the first dog that was exclusively my responsibility. He was eight weeks old when I brought him home and he would be with me for the next fourteen years. He was a lab/shepherd mix and his name was Bodhi. That relationship solidified me as a “dog person.” I’ve never been without a dog by side since Bodhi came into my life.
    • In my thirties, I met a couple through the radio station where I worked who were parents to a severely disabled daughter with Cerebral Palsy. As I got to know the couple and their family, I was also introduced to the Skilled Companion Dog who assisted their daughter. I came to learn that their amazing dog – know to them as “Nicky, The Wonder Dog” – had been provided through the organization, Canine Companions for Independence (CCI), since renamed simply Canine Companions. I learned that the organization was funded through charitable contributions and grants and that they provided Service Dogs, Skilled Companion Dogs, and Hearing Dogs to qualified disabled people at no cost.
    • As my own disability progressed and after I had laid to rest my beloved companion, Bodhi, I decided to apply to Canine Companions in 2007. Their application process is relatively involved and includes several screening and interview stages before an applicant is approved and placed on a two-year waiting list.
    • In 2009, my number was called, and I traveled to Santa Rosa, California, to participate in the two-week resident training at the Canine Companions campus. I graduated with my first Service Dog, PLAYA, at the end of May. I’ve been matched with Service Dogs since then. PLAYA was with me for ten years before she retired from service in January 2019. The following month, I returned to Team Training and was matched with my current Service Dog, COPPOLA.
    • To learn more about Canine Companions and my relationship with that fine organization, CLICK HERE.
  • 2009 – My Last Stand
    • Looking back, it’s hard to believe how long I delayed the acceptance that I could no longer stand safely. Since acquiring my first wheelchair in 2004, I had continued to subject myself to excruciating gymnastics getting out of bed in the morning before collapsing in my chair for the day. I had also insisted on standing in the shower each morning and washing myself, a process that put me at severe risk of falling and serious injury. That I made it to 2009 without injuring or killing myself is nothing short of a miracle.
    • In 2009, I moved to a new apartment that was well-equipped for a wheelchair user, and I finally accepted that it was time to sit down … once and for all. I’ve never stood on my own again since.
    • That transition brought with it the need for several other adaptive devices including my first transfer boards, my first shower bench, and my first commode bench. I also bought my first adjustable bed at that time. I worked with private nurses and vocational rehabilitation specialists to learn how to safely transition to and from my bed and to/from the new benches using a transfer board. My home care provider attended these sessions with me so we could learn to work together as a team on these processes during my morning routines. From that point on, showering, dressing, and using the commode became actions that required assistance. Initially, I also required help getting in and out of bed but, over time, I learned and developed techniques that allowed me to do those transitions on my own.

A New Diagnosis

Between 2009 and 2011, I settled into a fairly steady pattern of living with and managing what I thought was some as-yet-not-clearly-defined form of Muscular Dystrophy. It had been my experience over the long course of my lifetime to accept that there were periods of stability punctuated by waves of increased decline. I was in one of those waves of decline in early 2011 when I had a pivotal conversation with my endocrinologist. During one of our routine visits, he asked how long it had been since I’d had diagnostic work done to refine my Muscular Dystrophy diagnosis. While I had periodically attended Muscular Dystrophy clinics at the University of California Davis Medical Center in Sacramento, the last real diagnostic work I’d had done was a muscle biopsy in 1994. My doctor, an alum of the University of California San Francisco (UCSF), told me that in the intervening fifteen years, the medical world had developed diagnostic blood tests for most of the different varieties of MD. And so I was referred to UCSF for updated diagnostic testing.

I visited UCSF in June 2011. In addition to an in-depth consultation with their Neurology Dept., I had nine vials of blood drawn to test for Duchenne, Becker, Limb-Girdle, Facioscapulohumeral (FSH), and several other forms of MD. Every one of those tests came back negative. I hadn’t tested positive for any form of Muscular Dystrophy.

In my conversation with the UCSF Neurologist, she introduced to me the prospect that I may actually have a rare neuromuscular disease that presents very similarly to Muscular Dystrophy – progressive proximal muscle weakness (e.g., hips, thighs, trunk, neck, shoulders, upper arms) paired with distal muscle strength (e.g., hands, forearms, feet, calves). This rare disease, known as Acid Maltase Deficiency – or Pompe Disease – would explain both my pattern of muscle weakness and decay as well as my relative heart strength and loss of breathing strength, neither of which were typically associated with Muscular Dystrophy. Additionally, she explained, there was a treatment for Pompe Disease which was not available for Muscular Dystrophy. She told me that there was a procedure to diagnose Pompe Disease that involved a simple saliva test. If that test came back positive, Pompe Disease could be confirmed with a simple corroborating blood test. I pushed – hard – to get the test. At the time, she was somewhat discouraging, telling me that the genetic saliva tests were very expensive.

While I waited to hear if we were able to proceed with the saliva test, a FedEx package arrived at my door with the test kit. I supposed that the test had been approved. I filled the test kit vial with saliva and sent it off to the lab.

I’ll mention as a sidebar that I received the $30,000 bill for the saliva test long before I received the test results. I entered into a protracted dispute with the lab that lasted for over a year before it was finally resolved in my favor. That cast a bit of a cloud over an otherwise remarkable year of my life.

In January 2012, I received a call from UCSF informing me that the saliva test for Pompe Disease had come back positive. The following day, I traveled the three hours to San Francisco for the follow-up blood test. It took another few months before those results came back.

In the mean time, I experienced a severe blood clot in my calf that triggered what my Pulmonologist called “a shower of pulmonary emboli” in my lungs that landed me in the hospital for a week. As if things weren’t difficult enough, I was now on blood thinners for six months … but alive. While I hadn’t experienced any discomfort or concerns until I started coughing up blood in the shower one morning, my medical team told me I was luck to be alive.

And I was lucky to be alive. While in the hospital in May 2012, I received a phone call from UCSF with the news that my blood test had come back confirming my diagnosis of Late Onset Pompe Disease. I didn’t have Muscular Dystrophy and my path had just opened for enzyme treatment.

… to be continued …

~ Brian