December 4, 2014 Advent with SusieJ

Spinal Muscular Atrophy

"Why does you mom walk funny?"

When she could still walk, Mom did walk funny. As she lost strength in her larger voluntary muscles, she would lean a bit to the opposite side and ever-so-slightly swing a leg forward. It was a bit of a penguin look. Very slight, but noticeable.

Mom was born with Spinal Muscular Atrophy, a recessive genetic condition that is the leading genetic cause of death of infants. Mom had a "mild" version that delayed her first steps and later in life forced her into a wheelchair. It wasn't until adulthood that Mom was diagnosed with Kugelberg-Wheelander syndrome (now called SMA Type 3); she had a thick scar on the inside of her bicep that she would let me stroke as a small child. My grandparents took her to doctors all over the mid-Atlantic looking for a diagnosis and cure, but there was none. They chose to have no more children; as close as she was with her American and German cousins, Mom missed having siblings.

In the 40s, the handicapped weren't mainstreamed, but Mom's parents fought to keep her in the "normal" school, with only an exception for gym class. She was teased, and bullied, and still made life-long friends; she and two other Lincoln grads went to the movies the night before she died.

She adapted to everything SMA threw at her. Difficulties going up steps or climbing into a bathtub for a shower? When she could afford to buy her own house, she bought new construction and had the builder extend the drive to the back door and add a stall shower. Power steering and brakes were on every car. She had special moves to lever herself out of sitting positions. Kids loved playing with her "grabbers," mechanical devices to grab things from the floor. Later it was hospital beds, motorized wheelchairs, the custom van, a Heuer lift.

Mom was clear-sighted about the future. She never had just a plan B, she had plans for the rest of the alphabet. Mom wasn't yet 65 and my stepfather Fred was in his mid-70s when she decided to move into a retirement home: no stairs, wide doorways, nurses on site. Before the apartments were built, she paid for a lowered portion of counter in the kitchen so she could do food prep from her wheel chair. She also negotiated a contract that the home would provide nursing services while she continued to live there, even though she was in independent living. That contract — and they will never sign another contract like that again — let her live mostly independently to the end. 22 hours out of 24, she needed no special care. It was only when getting into and out of bed, showering, and dressing that she needed skilled nursing care. She always needed someone to pick something off the floor (she would introduce herself to new residents on her floor and warn them that she would ask them to do this; they never minded) or put something away (she hired a number of women over the years who help the less able with seemingly simple chores like putting boxes onto shelves). Friends and family gladly drove her and the van, scraping the undercarriage on every speed bump in southeastern Pennsylvania.

Giving up was not an option. Ever. When her beloved cousin visited from Germany and wanted to see Ellis Island and the Statue of Liberty, we all took the ferry from New Jersey. All was well, except driving the chair off the ferry, with the waves lifting and dropping the ramp, so that the chair's wheels got stuck. The possibility of the ferry shifting and mom capsizing into the water seemed very real. How fast could someone unbuckle her from the chair? Could one person keep her afloat? Somehow, the chair made it up and onto the pier.

She was also generous in spirit, what was called "liberal minded" in Jane Austen's time, willing to think good of everyone. Her e-mail signature was "Be kinder than necessary for everyone you meet is fighting some kind of battle!"

About 1 in 40,000 people have one faulty copy of the gene. Mom had two and had the disease, so I have one copy, but not the disease. Jakob does not have the disease, and has a 1 in 2 chance of being a carrier.

She did many things she never expected to do. At 50 she was still walking, although by 60 she was using a chair more and more often. After Fred died, she lived "by herself," but surrounded by friends. She resisted moving into skilled nursing care, fearing being confined to bed. I imagined her surrounded by people more physically able but certainly less mentally able. Her friends and family were grateful that she could die at home.

At her funeral, many people remarked on what a hard life she'd had. I saw Mom's frustration and anger as much as anyone and more than most, but in my memories, she was happy. We would talk vaguely about end plans, and the end was always years in the future. Next week was a movie, dinner with friends, finally getting something organized or put away. She was so alive, that I would joke she was an irresistible force. From the outside, it looks like a triumph over SMA, but Mom said it was just doing what had to be done, every day.

[Mom as a young woman. Copyright Susan J. Talbutt, all rights reserved.]This beautiful young woman is my mother, Frieda Wolf.

The recipe: Jewish Apple Cake

Mom once told me she added walnuts to the Jewish apple cake. Sacrilege! Grandmom always had cake, and it was often this one. No icing or layers or chocolate, but it has been my favorite since childhood.

The craft: Woven paper hearts

Didn't we all do this in elementary school? Take two strips of paper of different colors, and fold each in half. Cut the open end into a half circle. From the folded end, make three long cuts. Weave the two pieces together; they will form a heart-shaped basket. No? You'll know it when you see the patterns. The first page is a simple heart pattern, and the designs get more intricate, including stars and snowflakes (I know!).