Kyndall

Updated: August 21, 2023

“Every night before I went to bed, I googled SMA-PME hoping there was something out there.”

–Kyndall’s mom, August 16, 2023

Born: September 2007

First symptom:  Age 7

• One seizure, recognized as a symptom in hindsight

Age 8:

• One seizure

Age 9:

• Pivotal year
  • More seizures recognized as seizures
  • Hand tremors
  • Balance issues
  • Fine motor skill problems, especially hand to mouth
• School grades dropped from A’s due to cognitive decline

Mother cried out that there was something wrong with Kyndall and no one listened.

Age 10:

• Seizures were Kydall’s biggest issue
• Hurting when she walked
• Hearing issues
  • Tongue fasculations, a sign of a neurological condition
• Kyndall’s case was referred to Vanderbilt University Hospital
  • Two hours away, every two weeks
  • Optic nerve abnormal
  • Routine scans negative
  • Genetic epilepsy panel normal
    • Doctors thought illness was not genetic
• They soon found the true diagnosis

SMA-PME diagnosed December 4, 2018

Age 13 (2020):

• Insurance required a change of hospitals
• There, neurologists puzzled
  • Unfamiliar with SMA-PME disease
• Tried to control seizures for her quality of life
  • No medications worked longer than 6 months
  • No hope of relief
• Started aspirating
  • Liquid diet or food cut in tiny pieces
• Still in school with worse cognitive decline
• Mother took teachers’ letters to doctors to show she was not imagining things

“I’m not crazy,” Kyndall’s mom told the doctors.

Age 15 (2023):

• Kyndall ran out of medications to try

Kyndall had two siblings.  Her younger sister never knew Kyndall when she was healthy.

Kyndall loved art, music, scary movies, rock climbing, beaches, horseback riding, and waterfalls.  She wanted to learn how to surf but never got the chance.