Sunday, 30 August 2009

Pyruvate dehydrogenase deficiency

That's what I think it is. Now I'm wishing and hoping it's MELAS. But so
Much seems to ring true of pyruvate ...
Microcephaly- check
Ventricular diAlation - check
Lactic acidosis - yep
Hypoplasia of corpus callosum-
check
Loss of head control - kinda
Failure to thrive - yeah previously
Seizures - yep

If it is this, and I am on my knees begging and praying it's not ... We won't have her long :0(

Shit

The only thing keeping me going is the hope that I am wrong.
That this would have been picked up on the amniocentesis (but I'm not sure that it would have because although genetic, it is evident on the Mitochondria and not the chromosomes- I think)

Apart from loosing my precious lil girl, whom I cannot imagine life without...
I can't stop thinking about Jordan and max. How will they cope? How do I tell them? How can they recover, go to school, be children, be happy?

Oh my, how my hopes have changed over the past few months:
In the beginning I hoped the medical profession were wrong.
I hoped she'd walk and talk
Live a normal life
I said goodbye to those hopes a whole back.

I them hoped for independent living
Mainstream schol
For her to be happy
But knowing I'd always care for her
I said bye to independant living and mainstream school a few weeks back

Earlier this week,
I hoped for adulthood
Teenage years even
I still do
But think I may have to lower my expectations and hopes again

What is left?

Just to hope I'm wrong!

Her name now seems rather ironic :0(



3 comments:

  1. Reading you every day. Thinking about you all every day.

    ReplyDelete
  2. Kelly Dace (Shaunas mummy)30 August 2009 at 05:32

    I pray the days are easier for you all and I pray you find out soon and I pray for Hope xxx

    ReplyDelete
  3. Caz (Cyaden's Mummy)30 August 2009 at 08:55

    Thinking of you all and sending loads love to little Hope xxxxx

    ReplyDelete