Wednesday, November 24, 2010

Willow's journey so far - part 2

So we found out Willow had Turners Syndrome, here is some info on Turners

Which started a whole new round of tests, they really wanted to do more Genetic testing as the Turners syndrome only really accounted for her Short stature, puffy hands and feet, kidney issues and a few other little things, like funny nails etc. It didn't account for her Developmental Delays, , Low muscle tone, epicanthal folds (which was the first thing that made them think Chromosomal) ad various other issues.

I said I'd prefer to wait, they are looking at every part of her body anyway and it's easier once they turn 5 and their facial features are more mature and then they don't have to test so widely.

Until then Willow sees a OT, Physio, Speech Therapist, Edochronologist, Developmental Pead, Pead, GP and Early Childhood intervention.  So she's very well looked after :)

About 6 months ago she went on to a maintenance dose of Cephalexin for her UTI's which has been brilliant, she has only had a couple since and she has come forward heaps developmental since the too.

So as we stand today:
  • We have concrete diagnoses of Turners and IgA deficiency
  • We are waiting on more tests with her kidneys and to see if she has Celiacs but she's not strong enough for anesthetic atm.
  • She is walking and running, though her low muscle tone and chronic ear infections means we have a lot of spills
  • Her fine motor skills have gone from a 6 month level up to age appropriate in just 6 moths
  • The Dr's intellectual impairment theory's have been blown out of the water now that she can communicate through signs. She can still only make an Ahh noise and a noise that means juice but.... She has over 200 signs and is a chatterbox...She knows all her colors, A-D, she ca count to three and can sign whole sentences.  So she's actually a very smart little girl here's a video of her doing her animals Willow signs animals  and this is just a few random signs Willow does random signs

  • I've decided not to go with Growth Hormones even though Willow's projected height is 4'1" at this stage.  The Endo wasn't impressed and felt that as a tall woman how could i make that decision, but Willow isn't growth hormone deficient for a starter and giving her the GH would mean an injection everyday for at least 10 years for possibly 5-10 cm's.  It just doesn't seem worth it, not when she has so many other health problems, if height was the only issue maybe i'd consider it but i doubt it.
I think that's everything!!! i'm sure i've left a lot out of her story, like going into her Autistic tendency's her social issues and a few other things but there is plenty of time for that :)

I think next post i'll share some of the fun things Willow likes to do and her wicked sense of humor xxx

Willow aged 15 months old and i just realised she wore the same t-shirt

 aged 18 months

21 months with her one true love PIZZA
My big girl is now two


  1. thank you Sally for sharing this journey....Willow is an amazing little girl who has 2 amazing sisters and the most wonderful mum in the world. I look forward to regular blog updates xx

  2. Thanks Leesa,

    I thought i might do the next update on Will's idolisation of her sister :)

  3. Thanks for sharing :) It's great to hear your journey with Willow and I look forward to hearing more updates of how everything is going. Your an awesome mum with some awesome kids!!

  4. Thanks Marrisa, your pretty special your self :)