Adeline

Updated: August 21, 2023

The joy of a child, the love of a family, a spirit of hope.

Born:  September 2009

First symptoms:  3 years old

• Repeated falling
• Clumsiness
• Muscular weakness

Age 5:

• Teachers say problems with graphics
• Can’t hold pencil correctly
• Consultations with doctors begin
  • Doctors call it dyspraxia, dysorthography, and dyscalculia
  • Diagnosis does not explain muscular weakness

Age 7:

• Loses partial hearing
• Fitted with hearing aid

Age 9:

• Dozens of epileptic seizures per day
  • Traditional treatments don’t work
  • Moved to a specialized class, impacts her independence
• Muscular weakness progresses

Age 10:

• Breathless when running
  • No more tagNo more swimming
  • No more horseback riding—her favorite pastime
• Falls incapacitate her
• Needs help with routines like dressing and eating

Age 11:

• Diagnosis of SMA-PME, January 19, 2021

Parents decide not to tell Adeline her diagnosis.  She remains cheerful, enthusiastic, and courageous.

• Parents cover floor with yoga mats to cushion her falls
  • Some falls results in broken teeth, nose, bones
• Tremors increase
• Epileptic seizures isolate her from her friends
  • Falls less at school

Though Adeline often has a big smile, she frequently dissolves into tears.  At bedtime, she is afraid to go to sleep.  She sleeps with her mother at night.

Afraid that she might not wake up.

Age 12:

• Mitigating treatments begin
• Temporary solutions

Age 13:

• Medical experts experiment with various doses and frequencies of:
  • Vitamin E
  • Idebenone-based medicine
  • Cannibus-based medication
  • Benzodiazepines
• Epileptic seizures decrease in frequency but increase in intensity
  • Convulsions begin

Her parents place their hopes in medical research.

Adeline’s family tries to bring magic into her life

• Meets a favorite magician
• Visits Mickey Mouse and fairy princesses
• Tours a medieval castle
• Enjoys a Harry Potter virtual reality movie set
• Special vacations with her family