Monday, September 26, 2011

Kaylee's Diagnosis

Dear Friends,

Most of you have been curious about Kaylee's diagnosis. We have taken our time with letting everyone know the details in part because we needed to find out the details in the first place but also because we needed time to process this and come to terms with what it would mean for our family ourselves. We’d like to thank you for your patience and for allowing us the space to deal with this as a family.

Kaylee's Heart

The condition of Kaylee's heart is called Tetralogy of Fallot (TOF). It is caused by her chromosomes basically getting the recipe a little bit wrong and making her heart with a little hole between the two chambers at the top of the heart. This means Kaylees oxygenated blood (going away from her lungs to the rest of her body) mixes with her unoxygenated blood (that is going from her body to her lungs). While all heart conditions are tricky in little babies, the surgeons are confident that they will be able to fix this issue. It is one that they deal with fairly often. We are hoping to be able to leave the surgery until she is bigger and stronger, but it will depend entirely on Kaylee and how she reacts to her condition. This is MUCH better than the initial diagnosis of Kaylee's heart which was very grim and I am thankful for the expertise of the doctors here. It is not uncommon for this issue to not be picked up by scans and some babies with this condition do not have it detected until they are days, weeks even months old.

Kaylee's general differences

Kaylee has Cornelia De Lang Syndrome. Before I describe what that is I want to tell you a little bit about what a genetic or chromosomal "syndrome" is. If someone is diagnosed as having a certain syndrome it means that they have certain traits in common. 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 Lang" 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. We do not know what she will be capable of as she grows. 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.

Characteristics of Cornelia De Lang include:

low birth weight (usually, but not always, under 5 pounds) - so we DID have a big baby after all!

delayed growth and small stature

small head size

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

long eyelashes

short upturned nose

thin, downturned lips.

excessive body hair (hence her nickname, Princess Hairy Legs)

small hands and feet

gastroesophageal reflux


heart defects

cleft palate

bowel abnormalities

feeding difficulties

developmental delay

Missing limbs or portions of limbs, usually fingers, hands or forearms

Intellectual impairment

Speech delay or absence of speech

Behavioural issues

Hearing difficulties

Vision impairment

Some of these characteristics she displays already - like her beautiful long eye lashes and delicate mono-brow, cleft palate and feeding difficulties. Others she definitely does NOT display – like missing limbs (never have I been so thankful to have a child with ten fingers and ten toes). Still other characteristics we will see if she develops as she gets older and work proactively to try and make sure we can support her in any way that we can to develop as independent and rich life as she can possibly manage. She has already enriched our lives in so many ways.

CDLS (Cornelia De Lang Syndrome) develops with no known cause in one in 10,000 births. As yet, it can not be detected 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 smiled and 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. She can go from blissed out to full diva tantrum and back again in three seconds or less. Much like one of her big sisters! Kaylee is not "one of those kids with a syndrome". She is Kaylee. Having a diagnosis will help us support and help her better, but it does not define her.


Anna S said...

Oh Jess - you've done a wonderful job educating, informing, advocating. To quote a Jewel song, "you were made for me, and I was made for you". Truly this is the case with you (your family) and Kaylee. May you all grow and prosper. He knows the plans He has for you. And they are good.

Bek said...

Well written and educational. Thanks Jess and Jon for sharing your news with us. May his arms of love surround you as tightly as yours surround your precious Tulip.

Karen Collum said...

Jess, thank you for sharing your journey thus far - what a precious, precious little girl Kaylee is! That's great news about TOF - as far as heart problems go, it's a pretty good one to have, from what I hear. Please feel free to contact me at anytime when Kaylee's heart surgery is closer - it's a journey in itself :)

Your little girl is a fighter and God has a plan just for her. So glad you are one step closer to home.

Karen xx

Jess said...

Thanks all. I will definitely keep you in mind Karen, as Kaylee's heart surgery gets closer. I am hoping we can put it off until six months! The surgeon was almost bored as he told me about it. I think he could probably do that surgery in his sleep! None of Kaylee's issues are dramatic in and of themselves which I am thankful for. Even her cleft palate only involves her soft palate and is very small! All together they do make life a little interesting, but what's life without a little bit of interesting?

Vanessa - Adelaide South Australia said...

You said it so well when you said "What difference does it make?" that your beautiful, gorgeous, precious little girl is a little different.

She is perfect in her own way and the love and affection you show will be no different than you show your other beautiful, gorgeous, precious children!

Love to you and your family xoxo

Momma Bug said...

Dearest Jess Mother-of-Kaylee,

Thinking of and praying for you this night.

Love you,

Char said...

Hey beautiful mummy :)
Just sitting down to have a catch up on Kaylee tonight. Thank you for keeping us all in the loop. She is absolutely beautiful - a real gift! And she couldn't have been born into a more loving supportive family!
Lots of love and hugs to you all I pray that you will find all the strength and energy you need to manage her needs and do the juggle :) Bless you all xxxxxxxxxx