The need to know – part 3

English: A close-up of a swan (Cygnus olor).

Since we saw the geneticist in July 2012, I’ve been expecting Lil Z to eventually get a diagnosis of a-typical Rett Syndrome. The geneticist seemed to strongly believe that was what was causing her problems. And Lil Z checked nearly every single box when it came to a clinical diagnosis of CDKL5:

  • Epileptic seizures starting in the first five months of life  – YES
  • Infantile spasms – YES (well, flexor spasms, which are very similar)
  • Many different types of epilepsy usually including myoclonic jerks – YES
  • A small head (microcephaly) – YES
  • Hand wringing movements or mouthing of the hands – YES
  • Marked developmental delay – YES
  • Limited or absent speech – YES
  • Hypersensitivity to touch, for example dislike of hair brushing – YES
  • Lack of eye contact or poor eye contact – YES
  • Gastro‐esophageal reflux – YES
  • Constipation – YES
  • Small, cold feet – YES
  • Breathing irregularities such as hyperventilation – NO
  • Grinding of the teeth – YES
  • Episodes of laughing or crying for no reason – YES
  • Low/Poor muscle tone – YES
  • Very limited hand skills – YES
  • Some autistic‐like tendencies – Not sure what this means exactly, but probably YES
  • Scoliosis – YES
  • Cortical Visual Impairment (CVI) – YES
  • Apraxia – Not sure what this is, so probably NO…
  • Eating/drinking challenges – YES
  • Interruptive sleep – YES
  • Characteristics such as a sideways glance, and habit of crossing legs – YES

I’d done my research on CDKL5 and Rett Syndrome, as had QB and Lil Z’s former and current nannies and we all agreed – that’s Lil Z. That must be her diagnosis.

So, you can imagine my surprise when I got a call from her Paediatrician yesterday telling me he had tracked down her results and there were no CDKL5 abnormalities reported. So, that’s not it after all.

And we’re no closer to a diagnosis than we were 8 months ago.

As absurd as it is to be disappointed that your child doesn’t have a rare and severe genetic syndrome, I am. I can’t explain it or rationalise it,but I really want a diagnosis for her.

So, it looks like we’re back to the geneticist for more ideas.


2 responses to “The need to know – part 3

  1. Just catching up with your latest news. Have been quietly reading them all from France over the past few months. So glad you set this up. I would find the lack of clear diagnosis very frustrating…. but it did make me think how marvellous she is for hiding it from all those experts for so long!


  2. Pingback: The unexpected diagnosis | oneofthewonders

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