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

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!

Love

Chelle xo

I thought it was about time I posted a blog as it has been ages.

Life has been very very busy, I don’t know where the time goes, I feel I am always working against the clock!  Little miss Eva had 7 hospital appointments in the month of March alone.  In April and May, so far, she has had the odd one here and there which hasn’t been too bad.  Eli has been his usual wee happy busy bee self!!

I cannot believe that our little prince Eli was 21 months old there.  He amazes us everyday with the new words he comes out with, putting 3 or 4 words together and the wee things he does.  We’ve been teaching him to count to 5 and it’s the cutest thing, he gets his wee fingers out and counts….although sometimes it can be ‘2, 4, 3…’!!!  All we get these days is ‘Who’s that?’ or ‘What’s that?’.  Love it.  Football is his favourite thing.  He’s definitely his father’s son, and also his two granda’s grandson.  Poor granda’s never get peace to sit for 5 minutes!  We have seen him just blossom in being big brother.  He is so loving, gentle and concerned for Eva, it just melts our hearts.  Every morning without fail, when I bring him downstairs, he’ll look at me, point upstairs and say ‘Eva?’, Eva has to get up too!  He has to get the occasional nurse when he fancies it but then after a minute or two he’ll say ‘all done’ and that’s enough!!  Today I plan to make play dough and start some crafty things with him.  Love treasuring these memories.

Our little lady, Eva is approaching 8 months old.  Again, we can’t believe that she has been here 8 months.  In ways it has gone in a flash but in other ways, it seems like she’s been here far far longer with all that has happened in the past 8 months.  We had a big victory to celebrate on 24th April….Eva rolled over from her tummy to her back.  To some that might not sound like a big thing but for Eva, this was a big big achievement.  We have learnt never to take anything for granted.  Eva has now started holding toys with 2 hands, working with them, experiencing the textures and sounds of them and bringing them to her mouth.  This is amazing to see our little girl do this.  We have so so much thanks to give Eva’s physiotherapist and occupational therapist.  They have been truly amazing .  They have come faithfully every 3 weeks since Eva was born and give Eva a good 1 hour work out which involves a lot of play therapy and showing me what to concentrate on and do till they visit again.  Eva’s hands have come on brilliantly.  She can now open both hand a lot more and can grasp small things. She amazes us everyday and we are so thankful to God for our little blessing.

We are very excited about Paul going full out with his graphic & web design business, bright idea design!!  Spread the word if you know anyone needing any web design or graphic work like logo, flyers, brouchures, new papers, etc etc done.  (A wee plug but sure, I can get away with it!)  Love seeing him use his creativity in ways he loves and be able to be involved in daily family life too.  Love this man so much and love how he loves our children.  Have heard it said ‘there’s nothing more attractive than a man who loves his children’  and as I see Paul with our two children, I fall more in love with him everyday.  Excited for a few days away together, just me and him!

That’s all for now, hopefully it’ll not be as long till next blog!

Chelle xo

We had a ‘first’ in our house today…Eli painting for the first time.  I love making memories with our wee family so so much, these things I will never forget.

We started off doing hand and foot prints!!  We did wee Eva’s feet first and then Eli’s hand and foot prints.  It was fun although Eva didn’t quite think so, don’t think she appreciated the feeling of cold paint on her feet!

Have to admit, my heart was a bit sad today that we couldn’t do Eva’s hand prints.  I know someday soon we WILL get to do her wee handprints and I’m excited for that already.  I am sure that sounds so silly to some of you but these are the things that I feel at times and that’s ok.  It says in Psalm 34 v 18 ‘The Lord is close to the brokenhearted’.  I also cling to Hebrews 11 v 1 ‘Faith is the confidence that what we hope for will actually happen; it gives us assurance about things we cannot see.’

So at the end of the afternoon these were the masterpieces that I will treasure forever!!

Chelle xo

Can you believe we are now into March! February was an eventful month in the Jenkins family calendar!

It started off on the 3rd with my birthday! This year my birthday was spent looking after 2 sicky boys that week! Eli was sick then Paul took it real bad, as did his mum, dad & brother. Praise God wee Eva & I escaped it. So that was all fun!! However, I did receive a gorgeous big bunch of flowers to the door from paul, from his sick bed (with a little help from a special friend!!)

Then on 12th, our precious baby daughter Eva was dedicated. We are so thankful & blessed to have shared that occasion with our families & church family. Eva did brilliant, snuggling into Pastor Jeff as he prayed! She really is a cutie! Big brother Eli did amazing too, just taking it all in his stride.

14th was, of course, valentines day. We never do anything big on valentines day. I’m so glad I know I’m loved everyday & not just one day a year. Have to admit tho, I do like getting my wee card!

Another big thing in February was our 5th wedding anniversary on the 17th! We can’t believe we are married 5 years & been in our wee house 5 years. These have been the best, amazing, eventful 5 years of our lives & we wouldn’t change it for the world. We have been blessed with a home & 2 precious children (plus loads loads more!). I have been truly blessed with an amazing husband whom I love more & more each day. I am proud to call him my husband & the father of our children. I thank God for him everyday.

Then last but by no means least was Passion 2012!! I was blessed to have got the chance to go to our women’s conference at church & sit under teaching from Pastor Donna Crouch, Lorraine Wright & Pastor Jeff. I was so so in need of this break away to get spiritually fed, spent a bit of time with my girlfriends & actually sit & drink a full cup of coffee without having to run after 2 kiddies!! I loved that I could walk away from home, leaving Eli & Eva with Paul & knowing they were being looked after 100% by their daddy, no worries at all. Passion was fabulous, excited for next year & excited to hear our Lorraine Wright before then!! Love this lady, blessed to know her.

So that was our February, quite eventful & busy but great!! Here’s to another exciting month in March!!

Chelle
xo