Cornelia de Lange: The Syndrome with a posh name

Hi.  Thanks for stopping by.

Firstly, I’d like to say thank you to my new followers, to those people that read my previous posts, liked them, shared them and took the time to comment…it means SO much.  You lovely people you!!  I never imagined one person would be remotely interested in my ramblings, let alone several. It’s also been fascinating to look through my stats and see that our life is being shared with people around the globe.  If this is your first visit to my site…hello and welcome.

I have brags to share with you…..Hoorah!

Hannah and I are featured in a magazine.  It’s not Vogue or Hello or some other fabulously glossy magazine (yet) but it’s really pretty good.  We’re featured on the front of the UK and Ireland edition of The Cornelia de Lange Syndrome magazine called Reaching Out and there’s a full page article about my blog.  It’s not online yet, otherwise I would have shared it with you.  Big thanks go out to the lovely Ella for writing the article.

The next brag is that we have a few new developments here at Broccoli HQ which suggests that Hannah may well be starting to go through her ‘terrible two’ stage at four and a half years old!  Never did I imagine that one day, after pouring over all those child development books and research papers in my past, that I would actually celebrate this phase and welcome it with open arms…but I am!.  It appeared to start at home last week when Hannah began to randomly refuse food (not broccoli though, yet) and then she started to refuse some food at school and now it’s becoming increasingly necessary for me to dodge various toys that are being propelled around our home with the speed, force and agility of an Olympic shot-putter.  We’ve also had ‘fake crying’ but she can’t sustain this for too long as it makes her laugh.  In addition to this, I’ve been informed that she’s starting to display the occasional rather cheeky and sometimes defiant behaviour.  The only trouble with this is that the people supporting her think Hannah’s too cute to be told off!  Which she is…because she has a sparkle in her eye and a rather cheeky grin when she knows she shouldn’t do something.

Hannah also has a new friend at school called Jack.  Her previous BFF (Rhys – beautiful boy!) was on the list as a potential suitor.  Sadly, it seems she has dumped him and moved on.  This is a fabulous new development though.

OK, let me apologise in advance for this next post.  I’ve really struggled with it.  A lot.  Hence the delay in posting.  I guess I had to share sooner rather than later as this syndrome is a big part of our lives but there’s so much I want to say (I’ve had to cut portions out of this believe it or not!) and, as you may have guessed already, I have a tendency to write rather a lot….that’s probably why I’m totally pants at using Twitter!

What I’m about to share isn’t intended to be entertaining…I’d never get a job in sales, would I? I aim for it to be more informative rather than anything else, but once I’ve shared this then I plan to write other posts that are more uplifting and hopefully more light hearted, so please try and bear with me. 

Right, deep breath…here goes…

I guess the world of comedy would probably disagree with me when I say that there’s nothing at all funny about disability.

For me, there’s nothing funny about watching my child’s heart stop on the hospital monitors following surgery (nope, not even remotely funny), watching her choke at nearly every mealtime (very scary), watching her try repeatedly to accomplish a really basic task that any other average child could complete without even thinking (heart breaking) or watching her in pain when she can’t even locate the pain with her hands to tell you where it hurts (multiply that heart break by a million plus).  For other parents it’s about never being able to see your child smile – because they can’t, not because they won’t; about watching helplessly whilst your child has such a violent seizure that you think they’ll never come out of it; about watching time fly by and knowing that your child will die before they reach adulthood.  I could go on, but I won’t.  So sorry, world of comedy, I’ve had a bit of a sense of humour failure on using disability to gain a laugh and I’m quite sure a few other parents might well agree with me.

Please don’t get me wrong, I’m all for freedom of speech.  I do actually have a sense of humour and I’ve experienced some really funny moments with Hannah (which I’m sure I’ll be sharing with you in other posts)…but that’s because she’s a child…and kids can be really, really funny sometimes, even if they have a disability. Yes, for those of you who don’t know, even disabled kids can have a sense of humour….and even if they’re non-verbal and significantly developmentally delayed! 

So, when I sat in front of the Professor of Genetics in charge of Hannah’s case and she confirmed Hannah’s diagnosis – that she had Cornelia de Lange Syndrome – the room closed in on me and I felt I would never breathe out again.  That my life and Hannah’s life, now so inextricably linked, was pretty much over and that I most definitely would never, ever laugh again. 

I knew my friends would be contacting me later that day but, to be honest, as much as I love them dearly, I really couldn’t have spoken to them and reiterated the news.  So I emailed them.  I told them about the diagnosis but couldn’t articulate fully how I felt right then.  What I wanted to say was ‘yes, I’m devastated, but I’m still me, so please don’t treat me or Hannah any differently; please still make fun of me, please don’t walk on egg shells or feel that you can’t say anything without worrying that you’ll hurt or offend me and please, whatever you do, just don’t pity us’.  So, after I’d elaborated a little on the diagnosis, I ended the email by saying “well, at least it’s got a posh name”.  That was my way of saying “I’m still me…the same old stupid me”.  Every one of them totally got what I was trying to say and they gave me what I needed right there and then…some time for all this stuff to sink in and a great big warm cyberspace hug. 

…my lovely, lovely friends.

And now, as time has passed a little, I can breathe out (thankfully!), I can talk about Hannah’s syndrome, I can now laugh so much that my pelvic floor muscles give me a gentle reminder every now and again that I really shouldn’t laugh so hard – you get my drift ladies! My life isn’t over and, even more importantly, nor is Hannah’s.  I will always have an ache in my heart, for many reasons, but I won’t allow that ache to become all consuming.

I guess most of you won’t have a clue what CdLS is, so just in case you’re remotely interested I’ll elaborate here in layman’s terms (rather than using all that fancy medical jargonese). The following information has been gleaned from the books and papers received from the CdLS foundation.  If you or a loved one are in need of support and information there’s much more stuff available on the web (although be careful what sites you visit – make sure they’re reputable) and there are organisations who may be able to help…but maybe consider approaching a suitably qualified medical professional first.

Cornelia de Lange Syndrome is a rare genetic congenital syndrome which, current statistics suggest, affects around one in 40,000 to one in 100,000 live births (that’s 100 times rarer than having a child with Down’s syndrome). So that’s really pretty rare!

In 1916 Dr W. Brachmann, a German Paediatrician, wrote a paper about a patient with specific characteristics.  In 1933, Dr Cornelia de Lange, a pioneering Dutch Paediatrician, also wrote a paper which described two children with similar features to Dr Brachmann’s patient.  In the medical world, the syndrome is commonly termed as Cornelia de Lange Syndrome or CdLS however, it’s also been referred to as Brachmann de Lange Syndrome or even Amsterdam Dwarfism.

Currently, no one knows what causes CdLS and diagnosis is normally through genetic evaluation.  It appears there’s a lot more to be learned about the syndrome including all the genes that are affected.

The syndrome has serious physical and developmental implications, but from what I’ve read and been told isn’t life limiting in itself, however, there are a number of associated medical conditions which could lead to death including twisted bowels, intestinal obstructions and malrotation, pneumonia, heart defects, congenital diaphragmatic hernia and insufficient lung developments due to prematurity.

CdLS usually affects people in a number of ways, which can include:

  • Birth weight, growth and small head size called microcephaly (The CdLS foundation have developed their own growth and developmental charts for our kids as they won’t develop and grow like an average child)
  • Developmental delay
  • Learning disability
  • Gastroesophageal reflux disease (research suggests that around 85% of people with CdLS are affected) – left untreated, this can lead to very serious complications.
  • Behavioural issues – self injury (head banging, hand biting), attention deficit disorder, hyperactivity or autistic like behaviours. Sensory processing disorders, repetitive behaviours, heightened or diminished sensitivity to touch or temperature.
  • Seizures
  • Orthopaedics – sometimes missing portions of limbs (most usually upper limbs, fingers, hands or forearms).  Small hands and feet, partial joining of the second and third toes (webbed toes), proximally placed thumbs, fixed flexion contractures (basically, this means that Hannah is unable to extend her arms out fully because her elbow joints are fixed in a certain position) she also has tight heel cords.  Legs and feet can also be affected – club foot, absence of a portion of the foot or leg, knee flexion contractures (bent knees), bunions, abnormality of the hip, scoliosis (curvature of the spine).
  • Feeding or swallowing issues – could possibly be triggered by a sensitivity to temperature, texture or taste of food or environmental factors such as light, noise, room temperature or social aspects like who’s feeding the child/who’s present at the time.
  • Heart defects – most commonly being ventricular septal defect, atrial septal defect, patent ductus arteriosus and tetratology of fallot.  Hannah was born with two holes in her heart and a bilateral superior cava.
  • Ear, nose and throat problems – chronic sinusitis, nasal polyps, inflammation of the ear canal,
  • Bowel abnormalities
  • Hearing loss and glue ear
  • Problems with sight/eye ailments – chronic conjunctivitis, inflammation of the eyelash and lid, recurrent red eye, near sightedness,
  • Hirsuitism (excessive body hair)
  • Communication difficulties, limited or no verbal skills.
  • Cleft lip and palate/high arched palate.
  • Small jaw development (Hannah had hardly any chin when she was born), crowded teeth, extra or missing teeth, small teeth.
  • Food allergies – like lactose, casein or gluten intolerance.
  • Motor development – sitting up and walking etc
  • Most children strongly resemble one another because of their strong facial characteristics:  they can have long eyelashes, a short upturned nose, down turned lips and low set ears.
  • Hannah also has Raynaud’s phenomenon (a neurological disorder which affects the blood vessels in fingers and toes that is very painful and is usually triggered by cold temperatures and/or emotional stress) and she has cutis marmorata which is like a purplish/red pattern that appears all over the skin which is more noticeable in changes of temperature.
  • It’s been suggested that individuals with CdLS appear to age more rapidly than their peers.
  • Often our kids may have a very high pain threshold which you might think is great to have, but actually it’s not that great.

So, I guess reading all this…that’s if you’ve managed to get to the bottom of this post (well done if you did!)…you’ll appreciate how overwhelmingly stressful it can be at times for people affected by CdLS and for their parents/carers and why I can’t (and never have) laughed about disability.  But, for those of you just starting out on your journey with your child, my message to you is hold on to the fact that you WILL breathe again, and hopefully laugh, and regain some semblance of what was ‘you’ before, even though things will probably never be the same again. 

 

 

If you’re in the UK or Ireland and need more info on CdLS then have a look at www.cdls.org.uk or www.cdlsusa.org (if you’re in the USA).  No doubt there will be other organisations worldwide and I’m sorry I can’t include them all here.

With thanks to Jackie at the UK and Ireland CdLS foundation for supplying me with information past and present.

This post is dedicated to everyone affected by CdLS.

 

 

 

 

 

 

 

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2 Responses to Cornelia de Lange: The Syndrome with a posh name

  1. Andrea baker says:

    Thank you for making me laugh and cry 😚😚😚
    Cdls is a huge part of our lives too
    Em was diagnosed last year at almost 3, ups and downs and terrible twos from hell 😮😮

    Andrea xx

    • Hi Andrea! Thanks so much for stopping by and commenting….although am a bit sad I made you cry…that really isn’t my intention. But good to connect with a CdLS mama. Oooh, terrible two’s from hell, eh? That’s GREAT!!! (ish) Keep on keeping on, lovely. I have no doubt our paths will cross at some point in the future. xx

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