Rare Diseases Have Many Faces and I Am One of Those Faces.
By Christopher Falconer
February 28th is Rare Disease Day, and I was encouraged by my friends at the Spastic Paraplegia Foundation to share my rare disease story that you are now reading. Yes, I am the face of a rare disease called Hereditary Spastic Paraplegia, commonly referred to as SPAST HSP. I share my story for two reasons. First, because there are family members and friends who still do not know my health story, and second, I am hopeful that my story will encourage or inspire those who live with and are impacted by a disease or rare disease.
My rare disease story covers about forty-five years of my life, starting back in my high school years in Jamaica, West Indies when I recalled having issues with leg cramps and stiffness, and clonus of the ankles during long walks and when running and playing sports. I had no idea what was going on with my young body, but that was not going to stop me from hanging out with my friends and having fun. I was always ready for a game of soccer, volleyball or cricket, my favorite sports in that order.
I immigrated to New Jersey, the USA after high school, and around that time my leg cramps and stiffness progressed slowly, and I started walking with a gait. I was an avid jogger in my teens and early twenties, but by the time I was age twenty-five, my biweekly 5-mile jogs that had become a customary part of my life became challenging, and I was wearing out a brand-new pair of sneakers in no time. The winter months that I had initially loved, now started to amplify my leg stiffness and cramps. Nevertheless, until my late twenties, SPAST HSP did not cramp or limit my social life at all, and you could find me at my favorite reggae club in New York on most weekends.
Except for my spouse who I married in my early thirties; I never really shared my health challenges in much detail with immediate family members until I started walking with a cane in my mid-thirties to prevent tripping when my leg muscles randomly acted up.
SPAST HSP eventually demanded and got my full attention and starting in my mid-twenties into my mid-thirties, I exhaustingly visited neurologist after neurologist to get a diagnosis of my health conditions. Lyme disease was an early suspect that was quickly ruled out. Multiple Sclerosis became the next suspect that was ruled out after many years of evaluation and lab tests. In 1992, I was so relieved to be finally diagnosed with a strange, rare disease called Hereditary Spastic Paraplegia. With that diagnosis, so many other facts I knew about my family genealogy now made sense. I distinctly remember family members telling me that I resembled and walked with a gait like my deceased grandfather. And I recalled how my mom, who also resembled her dad, walked with a pronounced gait as she got older and had first-hand experience with the challenges I was to eventually encounter. Thanks to living in the USA, I was able to get a diagnosis of my condition by having access to medical professionals and technology that were not available to my grandfather or my mom in Jamaica. Unfortunately, sometimes getting access to great healthcare treatments depends on where you live and your economic status.
There are eighty different HSP genetic traits, and recently developed medical technology has enabled me to diagnose my specific HSP trait as Spastic Paraplegia 4 (SPG4, also known as SPASTHSP). This trait is characterized by insidiously progressive bilateral lower-limb gait spasticity. More than 50% of affected individuals have some weakness in the legs and impaired vibration sense at the ankles. Sphincter disturbances are very common. Onset is insidious, mostly in young adulthood, although symptoms may start as early as age one year and as late as age 76 years. As was the case with me, individuals diagnosed with SPAST-HSP have an affected parent. Each child of an individual with SPAST-HSP has a 50% chance of inheriting the pathogenic variant. However, I was the only child impacted in my large family of six boys and one girl. Prenatal testing for HSP in now available. However, because of variable clinical expression, results of prenatal testing cannot be used to predict whether or not an individual will develop SPAST-HSP. In addition, the results cannot determine what the age of onset, clinical course, and degree of disability will be. HSP Disease severity generally worsens with the duration of the disease, although some individuals remain mildly affected all their lives. Disease severity is variable even among family members with the same pathogenic variant. The data shows that after a long disease duration (20 years), approximately 50% of individuals will need assistance with walking, and approximately 10% will require a wheelchair. Disease progression is more rapid in individuals with late-onset (age >35 years) than in those with early-onset.
My personal experience with Hereditary Spastic Paraplegia disease are stiff and heavy legs – like I am walking around with a sack of potatoes strapped to my legs, spasticity, sudden leg jerking, clonus in the ankles, frequent bathroom trips, and 24/7 pains and cramps that is now managed with a Baclofen pump implant. For me, it was a bummer to learn that there is currently no cure for SPAST HSP other than the Baclofen medication that I currently use to manage the constant cramps and stiffness.
How have I coped with this rare disease? Through this journey with HSP, I have always tried to keep the attitude that “it’s okay, I’ll be fine and I can handle it.” However, the more I have lost the ability to walk without the assistance of walking canes, as well as the constant pain in my legs, I do have periods of time when I get discouraged. That was how I felt when I was diagnosed with HSP and told by a Neurologist that finding a cure for HSP was like trying to find a needle in a barn. However, thanks to Scientists and investments in medical research, twenty years later, we have found the barn and isolated the haystack holding that HSP needle. However, a lot of work still needs to be done to find that HSP needle in the haystack, but these progressions make me hopeful that in my generation we may find a cure.
Without a doubt, HSP is like a thief who seeks to rob me and more than twenty thousand other people in the USA of one of our most basic abilities: to walk and live an active lifestyle. Without having the right perspective of this disease, or for that matter, the many challenges in life, we can become depressed, angry, sad and give up on life. And so, I constantly remind myself, especially during tough days, that I must also make room in my life for the joy, laughter, love, and affection that my faith, family and friends have brought into my life.
Coincidentally, I can see how this thief that I call HSP has helped me to become a better person - more understanding of the challenges of others, focused, humble, patient, kind, and mentally touch. So, my HSP disease and challenges were not wasted but put to good use as motivation to do and be my best. And of course, without a doubt, my Christian faith and the love and support of my wife Jacqueline are the deep roots that anchor me and provide me the nourishment to sustain me on this life journey. They are not just my roots; they are also the wind beneath my wings.
I stay positive and get through each day by living in the present, not in yesterday or tomorrow. Also, I stay engaged with life and celebrate the small victories & accomplishments in my life. Setting personal and professional goals are constants in my life, and servicing others is a priority. I discovered that serving others was liberating and enabled me to take my focus off myself.
Also, I have identified things in life that really make me happy — things like traveling with my family, bringing financial peace of mind to the clients I serve in my professional life, reading, bible devotionals, and writing. In fact, my newfound love for writing motivated me to write and publish a book titled “Roots - a metaphor & acronym for the Christian life.” I grew so much spiritually and in my relationship with God from taking that journey. Reading and writing freed me to take long adventurous journeys that my walking canes, wheelchair, and scooter could not limit or restrict.
You may have noted that I never called myself handicapped during my story and there is a good reason for that - I don’t see myself as handicapped. Yes, I have a handicap tag in my car that allows me to park close to buildings that I need to access. But that is the only way I identify with the word or the tag. I set no limits on myself and seek challenges and support in my life, not pity. I do not waste time focusing on what I cannot do but focus on what I can do in my personal and professional life. HSP will not define me!
I close my story with a few inspirational comments from the story of Craig M. Renwick who also has HSP SPG4. In his story titled “Traveling the SPG4 Highway,” Craig reminded us that “there are so many other things that we HSPers can do. Now with technology, we can explore new areas and take courses online. Perhaps there is an area of interest that can be entertained, given what each of our present limitations is at this time. Of course, I admit that I have never liked the word limitation. It conjures up what you can’t do instead of what you can do. I don’t work in a world of limitations; I think of them as modifications for our well-being.
Perhaps we find it difficult to do the 25 things we used to do; so maybe we focus on the ones we can do and have fun and enjoy those. We only get one ticket for this ride folks and we on the HSP highway have a few extra challenges to deal with while driving. But we can do it.”
One last comment. If I should ever seek your support and help for our Rare Disease research fundraising initiatives, which I am sure I will do, you will better understand and appreciate my advocacy and motivation to help find a cure for rare diseases such as SPAST HSP that lacks funding for research from the federal government that primarily patronize large patients/illness demographics. Thank you for taking this journey into my story.