So it’s official

So it’s official…today was diagnosis day for us.

We met with Eva’s geneticist, Dr Fiona Stewart, this morning to discuss Eva’s blood results…yes, 10 months on from taking blood from her on the day she was born!! But hey, we have come to understand that genetics is a very complicated area so some things take time and patience!

The results confirmed that Eva has Cornelia de Lange Syndrome (CdLS), the syndrome Dr Stewart thought she could possibly have by just looking at her and her wee characteristics.  Eva also has a condition called Holoprosencephaly.  There are some case studies where the two conditions have been linked but Dr Stewart has never come across one herself before.  Eva is the first for her.  She would believe that the Holoprosencephaly is part of her CdLS.

At the minute there are 3 genes discovered that when there is a change or mutation in one of them, they can cause CdLS.  The particular gene that is changed/mutated in Eva is the rarest gene of the three to cause CdLS.  So Eva has the rarest gene mutation to cause CdLS, a rare syndrome in itself, plus Holoprosencephaly!!

After hearing all this today, we can most definitely say that our little princess is one unique little being!!

It really takes Psalm 139 v 13-16 to another level –

13 You made all the delicate, inner parts of my body
    and knit me together in my mother’s womb.
14 Thank you for making me so wonderfully complex!
    Your workmanship is marvelous—how well I know it.
15 You watched me as I was being formed in utter seclusion,
    as I was woven together in the dark of the womb.
16 You saw me before I was born.
    Every day of my life was recorded in your book.
    Every moment was laid out
    before a single day had passed.

God knows Eva more than we or any doctor will ever know her.  He knew what she would do in every single minute of every single day of her life before she was ever conceived.  He chose us to be Eva’s parents.  He chose Eli to be Eva’s big brother.  My mind is blown away that God would chose me/us and entrust us with this special little girl.

How do I really feel?!?  To be honest, now I feel we can move forward, not that we haven’t been moving forward but people didn’t tend to take CdLS into account when working with Eva as it hadn’t been confirmed.  Now people can understand why she’s not even on the lowest line of your typical ‘red book’ growth chart, CdLS have their own growth charts and Eva is pretty average when you plot her on them!  Now people can understand her feeding problems and the battle we have with that.  Now people can understand why she was born with a mullet (CdLS babies tend to be quite hairy), she wasn’t just trying to please her daddy!!  ;-)  So yes, it’s as if, right this is what we’re dealing with, let’s do it and ride the roller coaster of what comes with it and whatever the future holds for us as a family.

Although Eva now has a diagnosis of CdLS and Holoprosencephaly, this in no way limits how God is going to use her wee life.  Jeremiah 29 v 11 says ‘For I know the plans I have for you,” says the Lord. “They are plans for good and not for disaster, to give you a future and a hope.’.  Eva has a future and a hope, Praise God.  In the same way Eli does.

Chelle xo

One thought on “So it’s official

  1. Hi Michelle, great to hear you have eventually got a definite diagnosis and something to ‘work with’, it must be a big relief….and its great to hear how well wee Eva is doing! She seems to be making great progress! I often think of you all and wonder how she is doing, she has come a long way since neo-natal, she was my wee mans first wee friend! Really genuinely glad she doing so well, hope she continues to amaze everyone around her! A true wee princess. Love from Edel & Brian Og xxx

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