Sunday, November 1, 2009

The Best Laid Plans.

I am a planner. That's my sly and subtle way of saying I'm Type A. Type Triple A, even. As my fellow AAA's know, there is rarely a situation which arises that hasn't been planned for. Which we haven't worried about, analyzed possible outcomes, prepared multiple contingency plans for, and executed same, as appropriate, when appropriate.

If asked, I'd still say I'm of the school of the contingency plan. And yet, over the last couple months I've started to grasp how truly futile all of our planning is. How much time we (see how I've ever-so-cleverly lumped all of you into my category?) spend [waste] making lists and carving out blueprints to the tune of 5 year, 10 year and 20 year plans. We live in a nation streaming with outpourings of the widely-recognized phraseology: "it is on my 5 year" or, the ever less hopeful, "it was on my 5 year". This type of talk is a second language to most.

Well: "The best laid schemes o' Mice an' Men, Gang aft agley." [ex. from Robert Burns: "To a Mouse"]

They've gone astray.

Layla was born with a "great" heart murmur (as my Pediatrician ever so gently refers to it *insert eye roll*). While I personally prefer the term "prominent", either way, there's no arguing with its severity. We were immediately sent to a Cardiologist at Children's Hospital (for you Grey's fans: her name is, ironically, Dr. Hahn) as our Pediatrician suspected a hole in her heart. We learned that the murmur presented itself as a symptom of Aortic Valve Stenosis, which basically means that the valves to her heart are underdeveloped and disproportionate with her heart. Over Layla's first year, "Dr. Hahn" has been monitoring her growth and looking for the expected evening-out of the heart and valves. At her last appointment, on August 20th, when there still hadn't been the anticipated development, the Doctor suggested that we schedule an appointment with a geneticist so as to test for any chromosonal abnormalities. That AVS in conjunction with the food aversion, slight developmental delays, colic and irritability, could be indicative of a mild case of Williams Syndrome or Noonan Syndrome.

Right away, I knew. Although a syndrome I had never heard of, it was like I had heard it a million times already in my heart. Without even knowing it, my heart had been in preparation of this for some time.

As one often does when they receive the quiet confirmation in their heart from God, I decided to do some of my own investigative work. I went on to do what any wise person would do: I consulted with the highest-profile expert in the field. Google. I looked up Williams, Noonan and Angelman Syndrome (which also had been thrown in the pot). I merely glanced at the results for Noonan and Angelman Syndrome, but couldn't stop pouring over the pages for Williams. I couldn't help but self-diagnose. The more that I read, the more convinced I became that we were facing Williams Syndrome. I read checklist after checklist, and checked and rechecked my “lists” and it all made sense. The extreme irritability, colic, severe reflux, poor sleep tendencies, low birth-weight, developmental delays, heart problems, chronic ear infections, sensitivity to loud, unexpected sounds. The fact that she didn’t fit our “family profile” and had this bizarre reddish hair and gorgeous blue eyes. The pixie features, button nose, wide mouth, full lips, long philtrum, puffier eyelids, stellate pattern in the iris. I was shocked looking at the many faces of children with WS. They could have been Layla’s brothers and sisters. There were a couple pictures that literally looked like they WERE Layla.

At that point I realized I was walking a fine line between my life as I believed it to be, and my life as I was terrified it would be. It wouldn’t change the love we had for her, or the fact that we would continue to put her interests and needs first. But it would change so much.

Part of me wanted to believe she would be fine and it would get filed away in the "close call" section of my life, but the other part of me wanted to admit that maybe there was a problem. Because it seemed easier to grieve and deal and move ON if that was indeed what I had to do.

On August 27th I spoke with my Pedi and begged her to run the FISH test. There was no way I was willing to wait another 5 ½ weeks until our October 5th appointment with the genetic counselor – never mind the additional 1-2 weeks for the results. She was hesitant to do it, since she didn’t have a background in genetics specifically, and wasn’t able to provide us with the support and resources a genetics counselor could, but I was REALLY REALLY assertive (read: aggressive) with her and she finally conceded to running the FISH test through her lab. More or less, the test was like a rapid strep test, a positive would mean positive, but a negative wouldn't necessarily mean there wasn’t something wrong with Layla.

She went in the next morning for the test. Later that evening, we received a call from the clinic saying we need to come back immediately and have her blood re-drawn, that her calcium levels had come back higher than the normal range should be. I had read that high calcium levels was charachteristic of WS, and felt like this alone was all the confirmation I needed. We brought her back the next morning, just to make sure the calcium levels weren’t just going on the fritz, and they were high once again. A week later there was no surprise when my Pedi called to let us know the FISH results had indeed come back positive for WS. Even though I was prepared, no...expecting...this, it was still very surreal. Despite some of the expected emotions, it was truly nice to have the formal diagnosis, even though it just confirmed what I had “known” for weeks, I felt like armed with a diagnosis I could begin to deal with everyone else around me. There really is no explaining that to someone else. And many of the people around us were of the opposite mentality: you.don' I guess, as a mother, you DO know. And ultimately, the results wouldn't change what had or hadn't already occurred genetically with her.

One of the initial challenges was processing that something could be wrong with our baby when she had already been stamped and processed: "HEALTHY" after delivery and we had been sent on our way. And some days are harder than others. For some parents, this may be crippling. This may be their: "thing". I guess...there are things that I feel like could break me. Things I don't know how I could recover from, if I could recover from. Thankfully, this isn't it. For me, the hardest part actually isn't having a child with special needs, but has been having a child with the health concerns which are associated with Williams.

The WSA says that Williams Syndrome is a rare genetic condition which is known to occur in approximately 1 out of 10,000 births. In most cases, it is a completely random occurrence, where there is a gene missing on the 7th chromosome. While this deletion always has an affect on physical and mental development, there is an extreme variance between cases. This quarantines us to a wait-and-see purgatory which, and I'm sure my fellow planners can empathise, I am not unusually fond of.

The SVAS remains the greatest of my concerns, especially after seeing some other parents who have lost their little ones in the surgery sometimes required to correct the problem. It has hit too close to home for comfort. Of course, the immediate thoughts that she many not ever accomplish the many dreams one has for their daughter: going to college, living on her own, getting married, (and most importantly, having a job which can pay our nursing home bills someday) made me sad. But then it dawned on me, that there's no promise our older daughter Madison may accomplish any of those things, either. We really have zero control over what our children will do, whether they are high-functioning, or face more challenges than their peers. Of COURSE if someone handed me a magic wand and said I could give Layla a life where she wouldn’t have to face these challenges, I would use it! But then again, if I did…then where is the Grace? I was reminded that God is in complete control, and it was like the first time I realized it, all over again. (what?? I’m not in charge?!) It was kind of a: "HUH." moment for me. I'm still processing that!

Joseph Campbell said "We must be willing to get rid of the life we've planned, so as to have the life that is waiting for us."

So, I’m letting the life I’ve “planned”, go.


I’m *trying* to let the life I’ve planned, go.

I’m *thinking* about *trying* to let the life I’ve planned, go.

[I suppose that's a more honest representation of the transition phase I'm in.]

Matt and I sincerely believe everything God allows into our life has a purpose. If we believe everything we say we do, if we truly believe that God only gives us what we can handle, and that she was given to us for a reason we may not yet understand, in the end it will all bring Him glory which is really what it is about. At the end of the day, she is still Layla, and has been such an amazing blessing already. Everyday she teaches us, and she is only a year old! So onward and upward. I am excited to watch her life unfold.

My little Laylove, you are a gift.


  1. Beautifully said my dear friend. I commend you for your abilitly to lean on God and thank God for thr oppritunity for you to know him. You've been such a strong influence in my life and I thank you for that. You are well equipped for this road and you are not alone in anyway. I hope I can support you like you've supported me. I have lots of time to reflect on the past now and the many hurdles that were put in my path. When Layla is all grown up you will be able to say wow we did it and look how we got through this or that chanllenge. You might be 50 years old and thinking back through this. You don't have the time for the reflection now. The reflection is where alot of the healing comes from. It's a slow process but will keep you close to God now.
    I love you! Anastasia

  2. Jen, I'm so sorry. I know that first off there is the sting of what won't be, but I can see that you have already worked through that (at least for now.) Know that I am praying for you and that God will walk with you every step of the way. He has chosen Kayla's parent's well. She and Madison are blessed to have parents who rely on the Lord.

  3. Nice to meet you! I'm sorry to hear about Layla's condition...I hope and pray for her heart to grow stronger with age. My Carriella will be turning 4 tomorrow...I can't believe it! Her story is similar to Layla's. Carriella did outgrow her VSDs and PPS but still needs to be monitored. You did a great job capturing the emotion and "transition" involved in the DX of WS. We found out when she was 27 months old, and I'm still in transition. It's all a wait-and-see and it does drive me crazy...even though I am more of a type B persoanlity! :) The extended WS family is a great informal support group filled with wonderful people. Keep writing and have a natural talent for it. Looking forward to getting to know you and your family through FB and your blog. Take care! <3

  4. You are so eloquent with your words Jen, I so wish I weren't so far away so I could give you and Layla a huge hug. You have so much strength, and hope Layla needs that. HOLD on to that.
    Your entry made me cry.

  5. wonderful post....everytime I read another ws family's story it brings me to tears. Beautiful.

  6. It is nice too "meet" you and know that there are many of us type AAA's out there who because of thier children have thrown out all their plans. Children have a way of making thier own plans that you must adapt to. I have four children and the three older helped bring me down gentally to that reality and Abi my youngest with WS) made sure I understood...that Joseph Campbell saying. Abi is now almost 7 years old. When she was born she too had a murmur which sent us straight to the cardio( her murmur was and still is called "impressive" by the drs.) When taken to the ER or any dr not the cardio, it seems that EVERYONE within earshot is sent to listen to it. Thank you for letting me be a part of your journey!~ Noel

  7. It's nice to "meet" you! You completely captured the AAA's personality in dealing with this diagnosis....I am such a AAA, as well!
    My Michaela is 10yrs old now, but wasn't diagnosed until 2 1/2yrs old.
    You are now a part of an incredible extended family, and we welcome you with open arms!!

  8. Wow have captured my exact thoughts, sentiments, feelings and outlook! Fantastically written and I'm so glad you have shared. I think I'll be sharing this with my family to give them a little insight into my husband's and I's feelings.

    Thanks so much!

  9. I came across your blog by typing in my daughters name. She is also Layla:) She will be 8 weeks old on monday, i got the call yesterday that the FISH test has confirmed WS. Reading this makes me feel a bit at ease knowing that other people can relate to my feelings right now. Thank you for you wonderful way with words and for, without knowing, helping this new mom of a child with WS feel a bit better.

  10. That's exactly how I felt with our diagnosis! You know that you know...and wish you didn't.