Brayden

Updated: September 28, 2023

Brayden was diagnosed with SMA-PME on August 10, 2018, shortly after his 3rd birthday.  He received a follow-on diagnosis of Farber disease, an illness closely related to SMA-PME, at age 4.

Born:  March 2015

At birth:

  • Multiple ear infections
  • Tubes before first birthday

First symptoms:  17 months

  • Started walking, lots of falls
  • Clumsy
  • Suspected ear infections as cause
    • Started physical therapy and speech therapy
    • Second set of tubes replaced

Age 2 to 3:

  • Still falling a lot, not catching himself
  • Started on third set of tubes
  • Adenoids removed
  • Tremors began
    • Thought to be caused by anesthesia from the surgery
  • Tremors continued and worsened
    • Hospitalized due to sudden inability to walk
    • Doctors ran several tests
      • First mention of SMA Type 2
      • Tested negative for SMA Type 2
    • Sought help from neurological specialist in Rochester, NY
      • Muscle biopsy and genetic testing performed
      • The confirmed diagnosis:  SMA-PME

Our charity has seen that an absence of an accurate diagnosis for years seems a matter of course for both Farber and SMA-PME children.

Age 3 to 4:

  • First noticed skin nodules
    • A symptom of Farber disease
    • Skin biopsy and more testing
    • Searched solutions overseas
      • Sent to France, connected with ASAP for Children charity and others
      • Met a Canadian doctor in France who specializes in Farber disease
      • Consulted this Farber specialist in Canada
  • More specialists

Farber Disease.  Another diagnosis, same ASAH1 gene mutation.

Age 4 to 5:

  • Nodules in throat
    • First scope of throat
  • Fitted for first wheelchair

Age 5 to 6:

  • First seizure, then another
  • Started seizure medication
  • First Electroencephalogram (EEG) conducted
  • Surgery for trigger finger

Age 6-7:

  • More seizures
  • Respiratory infections:  many
    • Hospitalized
    • Diagnoses included aspiration pneumonia
    • Nasal gastric tube placed
    • Feeding tube placed

Brayden’s seizures progress and intensify.  Traditional medications do not improve this condition.

Age 7-8

  • Put on Continuous Positive Airway Pressure (CPAP)
  • Hospitalized for constant throwing up:  medication formula change
  • Could no longer walk on his own
    • Wheelchair bound
    • Needs help for every transfer
    • Has hard time keeping his head up
  • Seizures now a matter of course for Brayden

Little Brayden has been robbed of his childhood.  He is so loved by his family.

  • Brayden loves baseball
  • A very special and courageous boy