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Evie-Anne's Aventure's

My journey through life.....

1p36 Deletion Syndrome is Evie-Anne's main overall diagnoses, however it causes many many underlying medical issues, some common amongst 1p36 children, and some a little rarer.

Evie-Anne is currently diagnosed with:

  • Epilepsy
  • Laryngomalacia
  • Scoliosis (wears a spinal brace 23 hours a day)
  • Optic Atrophy/Cortical Visual Impairment (Registered Blind).
  • Global Development Delay.
  • Seborrheic Dermatitis (inflammatory skin condition).
  • Generalised Axial Hypotonia (very low muscle tone).
  • Dysmorphic Feature's.
  • Diesese Related Malnutrition.
  • Plagiocephally.
  • Nil by mouth
  • Gastrostomy Tube Fed
  • Hypotonia
  • Reflux
  • Asthma
  • Short Bowel Syndrome
  • Dumping Syndrome
  • Dystonia
  • Deformed Limb's (wears ankle, foot & leg splints)
  • Non Verbal
  • Wheelchair Dependant

Evie-Anne's neurologist has managed to greatly reduce Evie-Anne's seizure's with a combination of medication.

Although Doctor's and specialist all say it is very unlikely that Evie-Anne will ever eat by mouth, we continue to push for re-assessments every 6 months.

Evie-Anne is able to roll over on to her sides, and onto her tummy on occasions, her head and trunk control remains very weak, and her she is still very floppy, however she is improving slowly, physio therapists and Doctors remain very negative on the chances of Evie-Anne ever sitting up unaided or walking.