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)
short upturned nose
thin, downturned lips.
excessive body hair (she has the cutest little fuzzy patches on her thighs!)
small hands and feet
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)
Slightly mottled appearance to her skin, especially when upset, hot or cold.
Features of this syndrome that Kaylee could exhibit in future include:
Speech delay or absence of speech
Features of this syndrome which Kaylee does not have
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!
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.
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
Not all of these blogs are focused on CDLS, but all the writers have a child with CDLS
Mark Ruins Dinner
My Cheeky Chickies
Walk with the Riedmiller Family
Journey of Hope
Best Dressed Baby in the ICU
Lisa Leonard Online
Bloom Where God Plants You
Life is Funny That Way
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
Top 5 CDLS/special needs posts.
Journey to PICU 1
Journey to PICU 2
A Complex Diagnosis
Top Ten for PICU