So it’s official

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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

Time flies…

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They say time flies when you’re having fun….or maybe busy, busy, busy!!  Can’t believe we are almost half way through July, need to start thinking about my Christmas shopping!!

Anyhow, our lives have been pretty hectic lately with one thing and another.

Since my last post, alot has happened!  Paul and I headed away to Hillgrove Spa Hotel in Monaghan and we had an absolutely brilliant time.  We ate, chatted, slept and just enjoyed time together without 2 kiddies needing our attention. Praise God for brilliant family on both sides who looked after our two little treasures.  We were able to go away without a worry, knowing they were being looked after (and spoiled!!).

When we came home, Eva had to have a sleep study done where her oxygen levels were monitored for 3 nights while she slept.  Another victory as these results were perfectly normal.  On 1st June, our little princess amazed us again and rolled over from her back to her belly.  With any baby this is harder work so seeing the determination of Eva to achieve this was amazing.  Now she just does it as soon as she’s on the floor, just as if it takes no effort.  Love her wee determined personality.

Eva then had a video fluoroscopy done and this showed that she was silently aspirating.  If you’re not sure what aspirating is, it is when fluids or food go into the lungs by mistake.  Eva was doing this without showing any signs ie. coughing etc.  This can cause risk to her lungs and cause chest infections and pneumonia to develop.  Thankfully Eva has never had a chest infection, she would wake up with an ‘out of the blue’ cough, which obviously has been caused by some milk going into her lungs but never as far as a chest infection.  Now it was alerted, we had to thicken her milk and change her bottles.  As with any baby, a change is not very well accepted when it comes to feeding.  Eva’s feeding really went downhill, where she was only taking 1/3 of what she should have been .  After working with different bottles, different teats and advice from her speech and language therapist and consultant, we were having no joy so Eva had to get an NG feeding tube passed to help top up her feeds.  This was a big week for us.  I was so worried that she was getting dehydrated and not getting enough, which she wasn’t obviously.  You know what it’s like when you google all the signs of something, you begin to think they are then when maybe they aren’t!  Anyhow, thanks to the amazing people we have working with Eva, they listened to us and took on what we were saying and what Eva was doing and in a matter of a day, it was all sorted…community children’s nurses and dietitian were coming out to pass the NG tube and go through everything with us and how it all worked.  Think we are now realising that we are more than just Eva’s parents …we have become Eva’s nurse, physio, OT, SLT, etc etc!!  When Eva started on tube feeding, the relief I felt was immense.  To know that our daughter was getting all she needed without the fight and forcing her to take more than she wanted orally.  Although this feeling was good, I did feel I had failed a little.  Feeding should be the most natural thing for a baby and mother but it hadn’t went smoothly for us.  The day Eva got the wee tube in, I remember asking Paul ‘Do you think I have failed?’….of course his answer was ‘No’ and when I thought logically about it all, we had tried all we could to get Eva to take her bottles and to be honest with you, Eva had done amazing to have got to 9 months with bottles only.  So, tube feeding is a way of life for us at the minute and to know Eva is getting what she needs for hydration and nutrition, means more than trying to force her to take from a bottle because that is ‘the way it should be’.  I am so thankful also to a couple of special girls that are in my life who have children who are tube fed and who put up with the questions I had and I am sure will have… Dawn Dunlop and Pamela Rainey.  If you read this – you girls have been an amazing support and help and I appreciate it so much.  The tube definitely does get people staring and asking questions!  We are ok with that but it’s funny how different people are in approaching the matter.  Some are nice and concerned and ask nicely ‘Aw what’s that wee tube for?’ or ‘Oh, is that a feeding tube she has?’, then you have others who tend to be a little blunter and say ‘What’s wrong with her?’ or ‘What’s that on her face?’.  I guess this all comes with having a child with special needs, it’s knowing how to respond!

Exhausted after getting her NG tube passed

Eva’s development is coming on so well.  She has really improved in working with toys with her two hands.  Again, this is something we took for granted with Eli but now, every little thing is a victory.

This is yummy!!

Eli is going to be 2 years old in a month, we cannot believe it.  Yes, we are having some ‘terrible two’ moments already but nothing major so praying it stays that way!!  He has got so funny and chatting away now like proper sentences.  Tonight it was ‘Daddy, my knee is sore’!  He says things and Paul and I look at each other and think how on earth does he know that.  It is amazing what they take in without you realising.

God certainly knew what he was doing when he planned that Eli would be Eva’s big brother.  He is the most kind hearted wee boy and especially when it comes to Eva.  He is always making sure she is ok and loves getting Eva cuddles.  I know he will look our Eva all of his days.  They have an amazing bond which we love watching develop each day.  We love his innocence when it comes to Eva and the likes of her feeding tube.  When he saw it the first day, I saw the puzzled look on his face, I just said ‘That wee tube is to help Eva to take her milk’ and with a wee nod of his head, he said ‘Tubie’ and that was him satisfied that he knew what it was for and that was ok!   It is brilliant for Eva too as they interact so much more now.  Blessed.

Colouring in with Eva

Eli also got his first ever Liverpool kit!!  Proud daddy loves it!

We are so thankful to God for each wee blessing in ours lives.  He has been and we know will be faithful throughout everything now and in the future.

Again a very long post so apologies, I will really need to start blogging more regularly so they can be short and sweet.  But anyhow, that’s what has been going on in the Jenkins family!  Excited for the days ahead for our wee family! :-)


Chelle xo