The journey that led to an incredible rare disease community

In September 1995, my parents began running the family’s newly acquired lodge on the stunning Blue Ridge Parkway. My husband, Randy, our two children, Matthew and Katie, and I lived about an hour away at the time. I drove up every day to help with lodge business. As the parkway’s fall colors worked their magic, we found an old farmhouse near the lodge and moved in.

We discovered an old cemetery on top of the little mountain on our property. Talk about foreshadowing.

Less than a year later, Randy and I announced to the family the pending arrival of our unplanned third baby. There were some gasps, but my folks didn’t skip a beat, despite realizing they’d be losing my help for a while. I tried not to worry too much about that; the relentless antics in Randy’s new coaching stint provided enough stress.

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We prepared as much as we could for the new addition to our home. I occasionally pondered where we’d put another little person in our already cramped quarters, but I didn’t dwell on it.

As it turned out, there was no need to focus on lack of space. A whopper of a surprise lurked in the background, ready to change us all forever.

An important conversation

On May 18, 1997, we welcomed Jeffrey, a beautiful, dark-haired bundle of sweetness. His easy nature was greatly appreciated, as we were also juggling Randy’s new job, Matthew and Katie’s school and extracurricular activities, the most dire of our farmhouse needs, and two dogs. We pretended to know what we were doing.

Fifty days after Jeffrey’s birth, one of our dogs was hit by a car. Randy rushed Duffy to the vet. I tried to reassure Matthew and Katie, who had witnessed the incident, with an impromptu discussion of God, death, and heaven. Although Duffy didn’t make it, I felt confident that the discussion was helpful.

One week later, in a twist we could never have foreseen, that conversation played again in my head when Jeffrey was diagnosed with the deadliest form of SMA, an insidious neuromuscular disease. Although it was (and remains) the leading genetic killer of children under 2, SMA is still considered rare.

The concept of any rare disease in our family was foreign until we learned later that a milder form of SMA had affected two sisters in the family of my mom’s cousin. After trying to process the prognosis of Jeffrey’s likely death before kindergarten, we regrouped to the best of our ability for the assignment ahead. Although I felt confident that God must know we could handle the daunting task at hand, I didn’t want to handle it.

The end of our SMA assignment

Jeffrey hadn’t even turned half a year old when our active SMA assignment ended. His special spot is on top of the mountain near the marker belonging to another baby, Clara. (Our granddaughter’s name is also Clara, and she has a different rare disease.) By then, SMA was anything but rare to me, and I spread the word about our ties to it however I could.

The sandwich shop Randy and I opened after Jeffrey’s death was named The Three Bears, for our children. Along with edible goodies, we shared our story and information about SMA. I wrote a book, “The Jeffrey Journey,” about our time with Jeffrey and continued reaching out to newly diagnosed families until Spinraza (nusinersen), the miraculous first drug to treat SMA, was made available. At that point, I doubted I could offer much that parents fortunate enough to have access to Spinraza wanted to hear.

An opportunity to share

I’ve mentioned often that one of the biggest blessings from being hurled into the world of SMA is meeting so many wonderful people. My instant friendship with Cindy Schaefer, whom I met shortly after Jeffrey’s diagnosis, led to me being invited by her son, Kevin (whom I watched grow up!), to write a column for SMA News Today.

An added bonus has been getting to know some of my exceptional co-workers. Some have SMA, while others have one of the many rare diseases represented by the phenomenal community of Bionews, the parent company of this website.

Halsey Blocher, who has SMA, and Jen Cueva, who has pulmonary hypertension, contributed their stories last year to “Positively Rare,” a collection of uplifting accounts by people with rare diseases. I read Halsey’s and Jen’s beautiful stories first, then skimmed a few other chapters. In glancing through a few stories, I caught several terms, including EMG (electromyography) and hospice, that sparked emotional memories of our time with Jeffrey.

A common theme throughout “Positively Rare” is the vital importance of connecting with others who understand. Although faith and prayer were at the forefront in terms of us remaining relatively upright during our own journey, the connection and easy online access to fellow SMA families ranks right up there.

February wraps with Rare Disease Day, an opportunity to acknowledge, celebrate, and connect with those in the rare disease community. Do it! You’ll be glad you did.

Note: SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of SMA News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.