If we ever get a diagnosis, I’ll write something here about it. For now I can leave a list of the things Joshua’s been tested for that he hasn’t got and a list of things we’re still waiting on results for.

What we’re waiting on

What he’s been tested for, but doesn’t have

Other tests performed (all normal)

  • U+E
  • LFT
  • Glucose
  • Bone profile
  • Cranial USS
  • TFT
  • Microarray
  • CK
  • ECHO
  • ECG (x3)
  • Acylcarnitine profile
  • Urine amino acid screen
  • Urine organic acids
  • Ammonia
  • Alanine
  • Plasma amino acids
  • TORCH screen
  • Magnesium
  • CSF (x2)
  • FFA/VLCFA
  • Glycine
  • Urine keystones
  • Urine glycosaminoglycan
  • Urine oligosaccharides
  • EMG
  • EEG (x4)