Cornelia De Lange Sydrome


Our youngest daughter, Kaylee, has Cornelia De Lange Syndrome. Before I describe what that is I want to tell you a little bit about what a genetic or chromosomal "syndrome" is.  A little bit of genetics 101 Jess style - complete with dodgy analogies. If lots of us made a cake and did not put in enough sugar, those cakes would have "sugarless syndrome".  Some may have no sugar and no sweetness, others may have only a little bit, some may have almost the right amount but not quite but they would all have sugarless syndrome and not taste sweet "enough" according to the recipe.  But they aren't identical to each other.

Our genetics are the recipe by which we grow and develop.  If someone is diagnosed as having a certain syndrome it means that their recipe has been mucked up in a similar way to other people who have the syndrome and therefore they have similar traits - like the cakes all not being sweet enough.  They are not, however, identical.  Some may have many of those traits in an extreme way, others may have few in a mild way. It is almost like a buffet called "Cornelia De Lange" from which my daughter has been served certain traits. We do not yet know how many of these traits she has or will develop - it may be many years before we know that. The "text books" say that because her physical attributes are very distinctive, it is more likely that she will have some of the extreme symptoms or attributes of the syndrome, but as the geneticist says - none of those text books are about my daughter. This is an extreme case of wait and see.

Features of this syndrome which Kaylee exhibit include:

low birth weight (Kaylee was 2.3kg or 5pound 4ounces, many babies with CDLS are less than 5pound)

delayed growth and small stature (She is in the 50th percentile on CDLS growth charts but hardly registers on the "normal" charts.)

small head size

thin eyebrows which meet at midline (her Uncle Aaron has been rocking the mono-brow for over thirty years now, Kaylee makes it work too)

long eyelashes

short upturned nose

thin, downturned lips.

excessive body hair (she has the cutest little fuzzy patches on her thighs!)

small hands and feet

gastroesophageal reflux

heart defect (tetralogy of fallot - click HERE to see how a heart should work, HERE to see how Kaylee's was before it was repaired in March 2012)

cleft palate (cleft involving soft palate only, repair to be scheduled after her tummy operation)

feeding difficulties

 developmental delay
Slightly mottled appearance to her skin, especially when upset, hot or cold.



Features of this syndrome that Kaylee could exhibit in future include:

Intellectual impairment

Speech delay or absence of speech

Behavioural issues

Hearing difficulties

Vision impairment

Seizures



Features of this syndrome which Kaylee does not have

bowel abnormalities 

Missing limbs or portions of limbs - usually fingers, hands or arms


CDLS (Cornelia De Lang Syndrome) develops with no known cause in one in 10,000 - 30,000 births. As yet, it can not be diagnosed in scans and to be honest, what difference does that make? Kaylee was created to be just the baby our family needs. Our grandchildren have no more chance of having CDLS of any other child unless Kaylee has children which is very unlikely as people with CDLS rarely have children of their own. Nothing we did caused Kaylee to have Cornelia De Lang Syndrome. The geneticist told me that it happens for "for no reason". I told her I believe it happened for a reason, but neither Jon nor I caused it.

We will be getting to know Kaylee for the rest of our lives. Already she has shown herself to be a tough cookie.  Kaylee is not "one of those kids with a syndrome". She is Kaylee.  She has a complex diagnosis, a feeding tube and dimples. Having a diagnosis will help us support and help her better, but it does not define her.

Kaylee aged 2 months just before she first came home


The current medical stuff for those interested
 
Right now Kaylee is waiting to have a surgery on her tummy to help control her  gastro-oesophageal reflux disease (GORD. After this we will schedule a surgery so Kaylee can have her incomplete palate cleft (affecting only soft palate) repaired.   Currently Kaylee is continuously fed with formula and expressed breast milk using a feed pump and a nasojejunal tube (a tube placed through her nose into her small intestine).  Kaylee has never successfully fed orally because of a combination of factors and when her tummy operation happens we will be placing a feeding tube directly into her stomach.  This will give her the best chance of feeding orally.  Meanwhile, we rock the feed pump.  Kaylee has graced us with some adorable smiles and a honking laugh.  She is reaches out to hold and touch things and loves looking around at the world and sucking her tongue.  "This little piggy" is hilarious in her book and she is very ticklish.  Her favourite place in the world is tucked into Mum's left arm.  Or a warm bath!

Resources

When I was first approached by the geneticist and she tried to give me a tentative diagnosis I told her I didn't want to know until they knew for sure.  The truth is, I had so much on my plate with Kaylee's heart condition and the transfer out to Melbourne etc. that my brain wasn't in a place to process any more information.  When I felt ready I checked in Kaylee's notes myself and found the diagnosis of CDLS.  I then went and started researching.  Many times I have walked away from my research shaken to the core by the "what-if's" that present themselves.  It is a true exercise in taking things one day at a time.  However, there is a time when it is appropriate to know some of what may be ahead and there have also been many times when I felt encouraged, uplifted, and reassured that I am not alone on this journey.  Here are a few resources I have found.  If you know of any you wish to add, leave a link in the comments and I will add it to the list.  This is a living resource so I will be back to add things as I find them.  If you find broken links please let me know so I can fix them.  If you happen to be a parent with a newly diagnosed child I encourage you to approach researching the same way as you eat an elephant - one bite at a time.  You do not have to understand everything RIGHT NOW and given the nature of CDLS, you will find many things in your research that simply do not apply to your particular situation.  There is no point in worrying too much about behaviour problems or hearing loss when your two week old baby has just been diagnosed - it may never be an issue for you.


General Information

The Wikipedia page - there was a print out of this in Kaylee's file at the Children's hospital

CDLS association (Australasia)

CDLS association (USA)

CDLS foundation (UK & Ireland)

CDLS world (international)

Facebook discussion page

Facebook prayer list

Australian Facebook discussion page



Blogs
Not all of these blogs are focused on CDLS, but all the writers have a child with CDLS


Our Journey

Mark Ruins Dinner

My Cheeky Chickies


Walk with the Riedmiller Family


Mi4Boys

Journey of Hope

Best Dressed Baby in the ICU

Lisa Leonard Online

Bloom Where God Plants You


Life is Funny That Way

Candee Fick


Our Adventures with Baylee


Helpful links that are not CDLS specific

tube feeding awareness

tube feeding awareness on Facebook

tube fed kids

Feeding Raya ( fab blog from a fellow tubie mama with lots of good info) 

Complex Child e-magazine

5 Minutes for Special Needs


Top 5 CDLS/special needs posts.

Journey to PICU 1
Journey to PICU 2
A Complex Diagnosis
Top Ten for PICU
Etiquette

5 comments:

Suzanne Musial said...

Hi Jess! My daughter, Ella Grace, also has CdLS. She will be 4 in April. Kaylee is beautiful! I wanted to let you know that if you are on Facebook, we have a large group of parents and family members of children with CdLS where we support one another and share experiences and advice: https://www.facebook.com/groups/121609361250938/

Suzanne Musial

Jess said...

Thanks Suzanne, I've joined now :)

Darlen said...

my son is 3 months old and we are waiting for the genetic test to come back and then we will be starting a CdLs test im scared i have been reading reading just very overwhelmed..

Jess said...

Darlen, I hope you have some answers soon. No matter what, your son is still your son. It may be overwhelming at first, but just take it one day at a time.

Julie Brocklehurst said...

Your blog is wonderful, and your story is inspiring!
I would love to share with you the story of another little miracle with CdLS.
Meet Graysen:
http://throughthetulips.blogspot.ca/2014/03/tulip-tales-graysen.html

-Julie