Jennifer Summers, who was diagnosed with spinal muscular atrophy, says that with her disease, she counts every day there isn’t a loss as a good day. She credits her faith and her care team at Mayo Clinic Health System in La Crosse with keeping her moving forward with a positive outlook.
This article is written by Mayo Clinic Staff.
Jennifer Summers, is an optimistic, articulate woman. The 35-year-old enjoys crafting, spending time with her close-knit family, and leading small groups and organizing volunteers at her church.
And lately, she is excited that she can carry a 32-ounce water bottle.
This may not feel like an important feat to some people, but it’s momentous for Jennifer, who was diagnosed with spinal muscular atrophy.
The condition is a group of inherited diseases that damages nerve cells in the spinal cord called motor neurons. This damage gets worse over time, affecting actions like swallowing, breathing, sitting and walking. It’s something Jennifer has known since she was 9 years old.
Recently, she’s seen some small improvements in function thanks to her care team at Mayo Clinic Health System in La Crosse.
Putting a name to her symptoms
As a child, Jennifer seemed to struggle with movement.
“I started having trouble when I was about 9,” she says. “I was very clumsy, and had trouble running or climbing stairs. I also had a lot of pain, like growing pains, except I didn’t grow that much.”
For years, Jennifer had unanswered questions, and inaccurate and nonspecific diagnoses. When she was 14, she and her family moved to Holmen, Wisconsin, and Jennifer was evaluated at Mayo Clinic in Rochester. After several appointments and tests, the family found out what was causing her pain, troubles with movement and loss of function. At 16, Jennifer was diagnosed with type III spinal muscular atrophy.
Spinal muscular atrophy damages nerve cells called motor neurons in the spinal cord. The damage gets worse, and muscles lose strength over time. The disease can affect actions like sitting, walking, swallowing and breathing. It is passed on to children by parents through abnormal genes. About 1 in 50 people are genetic carriers, and about 1 in 10,000 babies in the U.S. is born with spinal muscular atrophy.
People with type III spinal muscular atrophy have normal life spans, but they typically require a wheelchair due to progressive weakness and breathing support later in life. Jennifer and her family found hope in having a diagnosis, but they could do little to stop the progression of her muscle and nerve damage.
“At that time, there were no treatments available,” Jennifer says. “We focused on managing the complications of nerves and muscles dying, and getting adaptive equipment.”
Read the rest of Jennifer’s story on Sharing Mayo Clinic.