Jean Swidler shared a version of this story with the attendees of Adira’s ND Congress Extended Pilot.

My mother Kathy Cronin knew something was wrong. She presumed she had arthritis in her knees due to the pounding her legs took traversing the hard concrete covered with only a thin carpet at the New Rochelle Public Library. For over 30 years she worked as a children’s librarian there imparting the love of stories and reading to generations of the city’s children.

This knee problem became most paramount in 2016, even throwing complications into my wedding planning! I had booked the Lake Chalet restaurant in Oakland, California, and there were stairs from the entrance to the dock where the ceremony was. With a steady hand from my father and myself she was able to walk down the stairs and accompany me down the aisle as planned.

JeanSwidlerWedding
JeanSwidlerWedding

The arthritis as culprit was easy to assume, on that same trip she walked the level ground all around Lake Merritt in pursuit of Sunday Mass, and from the Ferry Building in San Francisco to the Alcatraz Ferry at Pier 33. She did note however that these walks drained her in a way that surprised her.

A few months following that happy occasion Kathy fell at work. She was OK, but rattled. This knee problem was now affecting her walking — she had a hard time lifting her feet. In addition to trying every sneaker she possibly could to discover one that would fix her gait, she contacted her doctor.

JeanSwiderParents e1656614870464
JeanSwiderParents e1656614870464

All too familiar

At this time Kathy, 68, knew what was really wrong with her. She had ALS, as had her grandfather, James, who passed in 1970 at the age of 70 and her mother, Lillian, who passed in 1990 at 67. Lillian knew something was wrong when she could not ascend a tour bus step in Ireland. This was all too familiar.

Her physician, who she trusted completely and valued, and who had heard her concerns about developing ALS over many years, for the first time referred her to a neurologist. By this point both her feet were not working and walking was a calamity waiting to happen. Shoes were also a hard fit as her big toe stubbornly pointed up.

The neurologist — supposedly an ALS expert for Westchester County — dismissed Kathy’s entreaties that this was ALS. She did not credit anything to the fact that her mother and grandfather had died of ALS. She did not refer her to genetic testing. She saw that her feet were not working and an EMG showed nerve damage. She was diagnosed with peripheral neuropathy—unexplained and sent on her way with physical therapy and exercise recommendations.

Over the coming months she worked very hard at physical therapy but her trouble walking did not improve. In fact she was starting to have trouble writing. On top of that she fell and broke her hip missing a long planned family reunion in North Carolina. She was out of the hospital by July 4.

Kathy’s surgeon was not happy. All his patients were ambulating perfectly by at most a few weeks after discharge. Kathy was still dependent on a walker after over a month. He grilled her on her commitment to her physical therapy. She assured him she was working as hard as she could.

Finally with two non-working feet, a broken hip and failing hands she was referred back to the ALS expert neurologist who this time, nine months later in late September 2017, diagnosed her with ALS.

No stopping the inevitable

I will never forget the moment she called me with the news. I was driving on a stretch of I-80 with notoriously poor reception but I knew I could not put her off. She told me with the saddest voice I have ever heard how all she could think about was witnessing my grandmother, paralyzed and robbed of her voice, hanging in a lift over a commode at the breakfast table of my grandparents’ home with my grandfather pointing out that she was smiling at something Kathy said as he wiped the drool from her mouth. She did not want that to happen to her. “I’m sorry,” was all I could say as even with my limited understanding there was no stopping the inevitable in this disease.

SwidlerMomandFam
SwidlerMomandFam
SwidlerandMom
SwidlerandMom

Genetic testing at Columbia revealed the C9orf72 repeat expansion. She progressed very rapidly and had a profound apathy regarding having sacraments and seeing friends and family, that in retrospect I think there could well have been cognitive involvement. By April 2018 she was unable to support her own weight at all. By December 2018 she was unable to speak and was on the BiPAP (a machine to help with breathing) most of the day. Her only communication method beyond eye contact and gesturing was texting on her phone which was increasingly difficult. She lost all ability to use her fingers two days before she died in February of 2019.

I was part of the care team for Kathy, my mom. Caring for a person with a fast progressing neurodegenerative disease is a challenging, frustrating, rewarding experience. This is especially so when it is a role reversal with a parent who assisted you so similarly when you were very young. One aspect of it that overwhelms me when I contemplate it is how, due to my Mom not learning eye gaze, she often was challenged in her ability to communicate especially when she was on her BiPAP. We still could communicate, but through eye contact. This is how she cared for and communicated with me when I was a baby. I’m happy that bond we shared could serve her decades later in her time of need.

Her experience of being dismissed — and I would say gaslit — until her symptoms had progressed to a point of severe disability is not uncommon for people in familial ALS families. Up until recently there may have been some arguments that this was in the best interest of the patient. That time has since passed.