You found us…yay!
You know what?…I’m SO pleased you did!
Now, just so you know, I didn’t know what to call this post. So the title (For New Parents) might not be too accurate as some of you may’ve just had a baby who’s been diagnosed quite quickly with CdLS (Cornelia de Lange Syndrome). But others may’ve waited years for a diagnosis for your beautiful poppet and are now learning what that entails. And some of you may still be searching…perhaps trawling the internet for any clues as to what syndrome your child may be affected by.
But whatever your circumstances, if you want to know more, please do come on in, I’ll put the kettle on whilst you make yourself comfy, then we’ll have a chat, shall we?
Okay, first, let me take this opportunity to congratulate you. Not because you found us (well, maybe a little bit *winks*), but because you’ve had a baby – a glorious, unique, scrumptious little individual; as, perhaps, like us, in the days after your baby’s birth, you didn’t receive many messages of congratulations. Perhaps people shied away, maybe not knowing what to say or do?
Darling, if this was you too, try not to take it personally, many of us have experienced that.
Now, seeing as you’ve dropped by, I’m going to give you some advice – hence the reason for this post. Because, in the early days and months following my daughter Hannah’s birth, I trawled the internet, scaring myself silly, reading stuff (mostly research papers) that really didn’t help me at all. I didn’t think I was asking for much; all I wanted was to learn about life with a child affected by CdLS, not what my child might not be able to do…not the guesswork stuff either. And that’s partly the reason why I set this blog up in the first place.
I’m passionate about raising awareness for CdLS, I’m SO frustrated that CdLS gets little (or no) mention…anywhere!…and I’m committed (and will always be) to supporting other families just starting out on their own journey to help them understand that there can absolutely be life after diagnosis.
But, I’m no expert. I’m only knowledgeable in how CdLS affects my child. So, for this post I consulted with an AMAZING group of people – other parents of children (and adults) who’re diagnosed with CdLS, who have their own unique experiences and collectively we possess many, many years! – and these parents very kindly pooled some of their knowledge for this post, just for you!
So, without further ado, here’s some advice…from THE experts!
(Oh, but before you read on, here’s a nice cup of tea…fancy a biscuit?…with chocolate on?…good, have two…and make yourself comfy…as we may be here for a while…we have LOTS to tell you!)
Top Tip #1
First off, a pretty obvious tip is that you need to breathe – regularly and often! You may’ve taken a huge intake of breath when your child was first diagnosed and feel like you’ve never breathed out since. Just breathe, my love, breathe!
Mindfulness meditation (sounds airy fairy…but it’s not, honest!) might help, as may talking or writing stuff down (but we’ll get to that in a bit).
Yes, you’ll probably hear a lot about God on your journey…
“God only gives special children to special people”…”God only gives you what you can handle”…blah blah blah.
Poor God. God seems to get the blame for a lot of things. I bet He (or She! – let’s not be gender specific here) is as sick as we are hearing this stuff.
But you’ll probably come across lots of well-meaning people who simply want to say something…anything…just to provide you some kind of ‘comfort’ – even if you don’t need comfort. Just remember, they’re trying to be kind. Grit your teeth, smile and move on.
Equally, you may be proffered advice by people who know ABSOLUTELY NOTHING; nothing about parenting a child with additional needs, maybe nothing about parenting even!, and certainly nothing about Cornelia de Lange syndrome and the impact that can have on your child…and you. This ‘advice’ may be given whether you asked for it or not. So, rather than getting all hot and bothered about it, it’s perhaps prudent to just switch off and imagine your eyes rolling about in the back of your head for a bit whilst they blather on.
A road less travelled
“Right at the beginning I needed to know that the shock and crushing sadness would pass. And it did, but it was ok to be feeling that too. Someone told me that a road less travelled may be harder but can be a wonderful one. After a while I learnt that no longer comparing to other children and worrying about milestones was actually incredibly freeing! And that my son has his own little timeline and I’m so proud of him”
Their “own little timeline”…remember that quote, it’s important!
You don’t need me to tell you that a diagnosis can be life changing for all of you in the family…but remember, that doesn’t change who your child intrinsically is. Your child is NOT a medical diagnosis. Your child is NOT a syndrome. Your child is NOT a patient or a service user. Your child is a CHILD – a beautiful, precious, unique and glorious individual in their own right.
“…the best piece of advice I have is something my hubby said after our wee boy was diagnosed…he just said it’s what he HAS, not WHO he is….xx very true”
“They are your child first and foremost and a diagnosis won’t change that. It does help if you can find like-minded parents, so I would definitely advise to join groups as it is so lovely and comforting. Enjoy them. They are sunshine and joy. Although there may be cloudy days, they will bring you happiness in its purest form”.
“It’s so easy to fall into the trap of saying I have CDLS child, no you have a child who happens to have CDLS. The child is a person in their own right, anything else comes after. My (child’s name) has no hands and only one leg. I never ever see that side of him, unlike some who have walked into lamp posts as they were too busy looking at him and not watching where they were going”
As you may already know, CdLS can affect people in many different ways. Like us, you may have already received a number of diagnoses for your child – heart defects, reflux, cleft palate, skeletal problems, or whatever.
…and it can be really hard hearing this stuff, can’t it?
And as your child develops, things such as self-harming behaviours or a learning disability may (or may not) emerge, so you may (or may not…remember, everyone’s different) get some more diagnoses. For me, new stuff can still hurt, but seems to get a bit easier as time goes on. And once we’ve licked our wounds a little, we get on with our life…after all, there’s fun to be had out there! There’s nothing we can do to change another diagnosis, so we’re completely wasting time getting all gloomy about it.
Welcome to the world, baby Hannah!
When there’s no definitive diagnosis, but you’ve been told your child may have CdLS…
I felt it was really important to find out what was affecting Hannah. I needed a diagnosis – I’m from the forewarned is forearmed school of life; the more I could learn about whatever was affecting her, the more I felt I could help her.
We got the CdLS ‘diagnosis’ relatively quickly – just from the numerous ‘symptoms’ Hannah was displaying physically – her cleft palate, her pierre-robin sequence, her heart defects, her skeletal problems, her beautiful eyes. However, it took years (about 8 actually) to receive a definitive diagnosis and determine which gene had changed. The most common gene that’s tested for any change is currently the NipBL gene, but Hannah’s was fine (typical! *tuts*). So further testing was required. Apparently Hannah has a gene change on her SMC1a gene which is on her X chromosome…it’s quite rare. Only 5% of people diagnosed with CdLS have this gene change.
However, we’re not all the same and for others a diagnosis has never really mattered…..
“Don’t also forget the families that have never actually received a firm diagnosis. It has been suggested that (child’s name) has a form of cdls or certainly along the spectrum but never received anything. Half the time we just go with it and let her form her own way in life – she grows with confidence every day and amazes us with half the stuff she knows that we didn’t know she did. It’s never really mattered to us whether we get a diagnosis or not – what will it actually change?”
Some parents like to receive a diagnosis in order to ascertain whether a particular syndrome can be hereditary – whether any future babies they have could be affected by the same syndrome or whether any other children of theirs carry the gene and, in time, could pass this onto their own children.
(n.b. As far as genetic research is aware right now, CdLS isn’t hereditary by way of a gene passing from parent to child)
…but whilst a formal diagnosis of whatever additional needs a child has can sometimes aid access to particular sources of support and services, don’t be disheartened if you don’t get answers yet. If your child has a ‘Syndrome Without A Name’ and you’re in the UK, you could contact Swan UK for advice: https://www.undiagnosed.org.uk/
Time as a family
You’ll probably come across lots of different professionals who give you daily programmes to follow – feeding programmes, portage, therapy, speech and language stuff etc. And that’s great. However, it’s rare that these people actually converse with each other and they won’t draw up a realistic daily timetable for you to get all this stuff done. So if you totted up all the hours in a day spent on doing all this, you wouldn’t even have time to go for a wee, let alone anything else!
…but also make time for the important family stuff too…holidays, trips to the beach, tickles and giggles and cuddles and play and bubble baths and books and lots and lots (and lots) of fun.
Your child needs to be a child. Make those memories. Have fun!
Fear of the unknown
None of know what the future holds for us…and, in my opinion, that’s not such a bad thing. Phew! *wipes brow* However, it’s natural for many parents to want to know exactly how their child will be affected by a disability. But whilst the professionals involved in your child’s care may be able to give you some indication, no-one can predict the future. Your child is a glorious, beautiful little individual in their own right, remember?
Maybe you’ve compared your childs development to other children of a similar age. Maybe, like me, your heart has ached far too many times watching your child strive to do something that any other child does with ease. Comparing isn’t helpful (but quite natural, so don’t beat yourself up about it) and an achey-brakey heart isn’t much use to you either. When Hannah was 2 years old, she couldn’t sit up on her own and that was really upsetting…however, by around three and a half years old, she was doddering around the kitchen and I was wishing back the time when she was immobile and safer, rather than falling around all over the place (there’s no pleasing some people, eh?).
But Hannah was just on her own timeline; doing stuff when she was ready to.
Whilst you may feel despair at the moment, I can absolutely guarantee that when your child does something for the first time that you never imagined they’d do (or were told they’d never do *tuts again*), you’ll celebrate, you’ll tell everyone who wants to listen, you may even have a little cry. It will be glorious!
(erm…I mean your child doing new stuff…not the crying!)
My darling, I hope this new journey of yours changes you for the better; I hope you embrace this slower pace of life. I hope you never take for granted how precious life is. I hope your child teaches you what life really is all about. I hope you look in awe at your beautiful child every day and they take your breath away at just how tenacious and marvellous and funny and characterful they are…oh, and maybe a bit naughty too…after all, kids are kids, remember?
If you’re feeling a bit stressed or scared right now, just take one day at a time. And if, right now, that’s too much to handle, then just take one hour at a time. Have faith, you’ve got this!
(oh, and make sure you take lots of lovely photos and videos as your child grows!)
Try and stay positive
It’s possible, that in the early years, there’ll be lots of focus from a variety of professionals on what your child can’t do. Their role is often to look at ‘the problem’ and try and ‘fix’ it…but that can get you down. It may feel like there’s very little attention paid to what your child CAN do. Sadly, that’s just the way it is at the moment. Please try not to despair, try and stay positive, you have enough to manage as it is!
If no-one else focuses on the positives, YOU can.
“Every milestone is so precious”
Someone once said to me “Hannah has all the world to grow in”. They were right. I’ve come across too many parents who seem to be in a rush or competition for their child to reach milestones…and that’s really quite sad. Childhood isn’t a race! And nor is it any kind of marker to how they’ll be or function as adults. Every child, regardless of whether they have additional needs or not, will develop at their own pace…our children just need some extra support to do so.
“Don’t be hard on your selves, it’s a journey, when you first get diagnosis its natural to be upset and have a period when you feel down and almost grieve to an extent but then you pick yourself up, and realise what a beautiful amazing child you have. Always push them, never settle for the excuse of ‘well they have CdLS so can’t do that’. We got told (childs name) wouldn’t walk and she walks/runs/scoots. We never treat her differently to our others. Every milestone is so precious”.
Looking on the internet
I was advised by a medical professional not to look on the internet. So, guess what I did? Yeah, you guessed it…I looked on the internet at everything I could possibly find about CdLS *slaps forehead*. I spent so much time on there that I used to make my eyes go fuzzy…and, like I said earlier, I scared myself silly! Don’t be like me.
If you’re going to look on the internet, only look on reputable sites.
Here’s the links to CdLS UK and Ireland and the US sites. They’re a great source of information:
CdLS US: http://www.cdlsusa.org/
CdLS UK and Ireland: http://cdls.org.uk/
“Contact the foundation, find other parents and enjoy the good times”.
Find your tribe
Friends or family may drift out of your life. You have enough to worry about, don’t worry about this too.
You may need to find people who just “get” your life or are willing to learn more. Find people who don’t add to your stress, but reduce it. Find people who don’t judge, who you don’t have to justify or explain everything to. Find your Tribe.
The internet is often a good place to find a Tribe – I know the CdLS UK and Ireland Foundation have a facebook page just for families. There may be other sources of support in your country too.
There may also be groups or charities that you can contact where you can meet other parents and carers who have children with additional needs – maybe not children with CdLS (given it’s so rare) – but nevertheless, you may meet some utterly AMAZING families of children with additional needs who totally understand a lot of what you’re going through.
When you’re ready, go seek them out.
“…I’d say to seek out others in your position, the cdls foundation, and all the amazing people we’ve made friends with. Learn to fight to be listened too but also make time for yourself to recharge”.
Many parents of children with additional needs go through the different stages of grief; denial, anger, bargaining, depression, acceptance. Equally, many parents don’t. Don’t beat yourself up about whether you do or don’t. If you have a partner, respect that they may not react in the way you do…we’re all different. Be kind to each other, support each other, talk to each other.
You may (or may not) grieve for the life you planned in your head when baby was on their way. You may mourn the loss of them not following in your footsteps in a sport or art or career or whatever. But remember, even if your child didn’t have CdLS, they may’ve not followed you anyway. Our children are unique individuals in their own right, with their own thoughts, wishes and aspirations.
Channel that grief/your feelings positively; talk (see below), write it down, don’t allow it to become all-consuming and get help if necessary.
“Don’t be afraid to grieve or receive support if this is whats necessary to become amazing and supportive parents to your CdLS child”.
You’ll learn quite quickly who’s genuinely interested in your child and what you’re going through. Steer clear of those who just ask out of nosiness/because they like gossip etc and those who glaze over when you begin to speak. Equally, steer clear of those who pop up only in the good times. They’re not your people, not your “Tribe”.
Choose your audience and your circle wisely.
If it doesn’t benefit your child or you, you DON’T have to explain anything about your child’s diagnosis with anyone. Don’t feel obligated just to appease someone else’s agenda.
But there will be kind hearted people wanting to know more – even complete strangers who’re genuinely interested!
Seek professional help if you need some therapy. NEVER be afraid or ashamed of seeking support. Not only do you need to be physically fit to care for your child, you need to be emotionally fit too. Sure, you’ll have down days, everyone does. Don’t let those down days become all consuming.
If you have a partner, it’s important to talk to each other. Share your feelings, concerns etc.
Talk to whoever you feel comfortable and safe with. Don’t bottle things up.
…but I fully understand that sometimes we aren’t ready to or can’t talk about stuff to others. The situation may be too raw. In this case, maybe write it down, keep it safe.
If you have other children, make sure they have someone to talk to about how they may be feeling too. This journey can also be difficult for siblings.
Don’t talk about your problems or worries in front of your child. Be mindful that even if they’re non-verbal, aren’t giving eye contact or seem focused on something else, they may well be listening (and understanding) what you’re saying. Protect them.
…oh, and regardless of your gender, it’s absolutely okay to have a bit of a cry.
For us, almost every day in the very early months following Hannah’s birth, there were appointments to attend; audiology, paediatricians, ophthalmology, community nurses, cleft nurses, multi-disciplinary cleft clinics, surgeons, heart people, oh, I could go on and on….and on!
Now, by suggesting you pace yourself, I’m not suggesting by any means whatsoever that you don’t go to these appointments, after all, you and your baby/child may need all the support you can get. But often, professionals and teams don’t talk to each other. So, it may mean, occasionally, you get several appointments to attend on the same day/week. Just ask yourself, are all these appointments manageable for me? If not, don’t be scared of picking up the phone and re-arranging.
Running around like a headless chicken is not conducive to either good physical or emotional health. You need to be fit to look after your child.
You may’ve had an immaculate house before your baby was born. Now it’s full of medical equipment and aids and adaptations. It may not look like it did before; don’t let that get you down. As long as your baby/child is warm and clean and fed and all their needs are met, then the dusting or the ironing can wait another day can’t it?. The aids and adaptations may not be aesthetically pleasing or blend in with your décor…but it’s there for a purpose…and it may not be there forever; your child may not need these things in the future.
…and, if you have a rather ‘boisterous’ little poppet, like we do, then be prepared for your fixtures and furnishings to get a good bashing!
Oh, and be prepared for some mess too!
I mentioned talking therapy earlier. But there’s other stuff too. Practical stuff.
Help could mean someone accompanying you to appointments, doing your ironing (ask them to do mine while they’re at it, would you?), spending some time with your baby/child whilst you go and have a shower or whatever.
Find out who can help you with filling in forms and providing advice on things like access to support, education etc. You don’t need to do all this on your own.
Don’t ever be afraid of asking for help (I know it’s easier said than done though).
Look after each other
Maybe you or your partner (if you have one) or both of you, are going through a tough time processing the information you’ve been given about your child’s diagnosis – give it time, my love. Life may not work out as you originally anticipated…but isn’t that true for many (or most) people at some point in their life?
Having a child with additional needs may possibly put a strain on your relationship. Like I said earlier, make sure you share your thoughts and fears with each other. Talking is really important!
Ordinarily, when you become a parent it’s expected that your life changes too; your priorities change, your relationship changes because there’s this other little person, so vulnerable, in need of your attention. In this respect, you’re no different to any other parent. However, you’ll probably have far more things to manage. Help each other.
Don’t blame each other. That doesn’t help anyone. There is no-one to blame. At one point, I asked myself “Why me? Why us? Why Hannah?” Well, the simple answer is…
Why not us?
Sometimes you have to fight
“it’s a long fight to get the services you need and require. You need to be forceful sometimes/most times. The good days outweighs the bad. Most doctors know nothing about the syndrome. Our children will amaze us with what they can do. Don’t be afraid to ask us other parents for advice”.
“Fight for ur child as where I am they don’t know anything about CdLS also enjoy the journey and never give up these children are the most amazing people ever and remember there is bad times but there is a lot of good as well”
“…you do have to fight for your children as others often think they know best, they often do not know much about CDLS and are making comparisons to other children. You must speak with other parents as you will learn quite a lot from them, they know what you are going through or will be going through. Deal with things one day at a time try not to get stressed and enjoy your child”
Most, if not all parents, of children with additional needs (regardless of their diagnosis) may have times where they have to fight for the services their children desperately need. It can be challenging. Be prepared to fight.
You have a name, make people use it
I’m often known as Hannah’s mummy, and that’s great. But, partly because of that, at one point I seemed to lose my identity along the way. Now, if someone phones and asks if they’re speaking to “Hannah’s mummy” I’ll respond by saying my name. I’m not just the Parent/Carer of Hannah, I’m a unique individual in my own right…and I make sure people know it!
Don’t lose your identity.
Self care is really important
You’ll probably be told to “look after yourself” – but it’s not always that easy, especially if you don’t have many (or any) people around you to help out. But please do try and take a little time out for you…when you can.
Write it down
You’ll probably have a lot of information to process. Sometimes – especially when you attend an appointment that feels quite stressful – you may not remember everything later. If you can’t get someone to go with you, take a note pad and write down what someone’s telling you – or get them to write it down. Plus, you’ll hear a lot of big complicated medical jargonese, which may be hard to remember at the time. Get whoever you’re seeing to write it down for you so you can take it away with you.
You’re not alone
There’s support out there…you may feel alone…but, trust me, you’re not. Whilst CdLS is pretty rare, there’s plenty of us out here (maybe not on your doorstep though) who you can make contact with.
As I mentioned earlier, you could join a facebook group for parents who have children with CdLS – here you can ask questions which may be answered by experienced parents who’re a little farther on in their journey than you are. We’re a very friendly, supportive bunch!
Don’t ever be afraid of saying how hard it is, don’t ever apologise, don’t ever be ashamed of your child…and even on the darkest of days, remind yourself that you’ve got this.
…But if ever you feel you haven’t, reach out, we’ll catch you!
Enjoy your child
“Enjoy your child, don’t get lost in the whirlwind of medical tests and jargon but see your little one for the wonderful person they will become, it doesn’t matter what they can do it’s how they enrich your life that counts. Nurture them as you would any other child and watch them grow in their own way and achieve their own little goals and finally fight for them and encourage them but don’t compare them, every child is an individual and contributes to this big bad world”
Enjoy your precious child. You WILL have wonderful, memorable, magical, funny times.
Hannah prefers to be the only one on the photo #Diva
HUGE thanks to: Natalie, Andrea, Carol, Samantha, Nick, Samantha, Sian, Delia, Lily, Heather, Vicky, Eleanor, Louise – amazing parents who made this post possible. This post is dedicated to them, their children and all the other children, young people and adults in our CdLS family and their parents, carers and siblings.
Our journey is undoubtedly a difficult one, however, with you around, we know we’re not alone. Thank you! ❤
So, I guess that’s all for now my lovelies.
As always, thanks for stopping by.
Until next time
Annie (and the CdLS family) xoxo
p.s. If you’re a parent or carer to a child who’s just been diagnosed with CdLS, we’d love to hear from you!