why..hello there!

I have dropped off the face of the blog world...and not because I gave blogging up for lent.

I have been busy doing lots of sleeping, eating and otherwise baby growing.  Thank you so much for your wonderful and celebratory words.  Tomorrow I am 9 weeks and "timber" is doing really well.  My 8 week progesterone level came back high, between zones 2 & 3.  Add to that I feel very pregnant...hello stretchy pants.  I am so grateful....SO GRATEFUL to have been given the blessing of maternity again.

I am intensely working on my maternal heart with my therapist.  I had two very very lows in parenting this past month.  An ugly bout of pregnancy hormones led to an ugly bout with anger.  As God's timing and providence would have it, I had a therapy session coinciding with a very bad day.  It is frustrating that my behavior is not changing as fast as I would like.  My mind and heart are definitely being converted and my prayer is that what I am learning will come to mind when it is most needed.

I have recommitted to giving up spanking.  This time no spanking and no yelling for lent.  I read a good article by Dr Sears about avoiding hand spanking as it discourages a natural and healthy curiosity.  This is something my husband had adopted and has agreed to give up, again, as well.

Therapies for my children are on my heart.  We have increased OT services for Catie and began a "sensory diet".  She is deathly afraid of all things fun (sledding, sliding, high swinging, exploring, etc).  I became aware of her height terror recently.  I am hoping the addition of the sensory training will be beneficial.  Meanwhile, I feel Augie is slipping backwards in speech and language.  I keep thinking of Williams Syndrome.  Many of these kids are missed because their personalities shine above their weaknesses.  This is so the case for him.  I am hoping to reopen his case with the therapist that cleared him.

In other news...we just booked a two week vacation to Florida in the mid-spring.  We had hopes of traveling south for Christmas, but with baby due a few months prior, I was not sure about that trip.  Plus I have been dying to visit during the beach months.  One week with hub's family and one week with mine and lots of time with the family in the pool and at the beach.  So. Excited!

Sorry for the hodgepodge.  I have had some beautifully deep thoughts and insights, but am never awake or coherent enough to blog them out.  This post comes courtesy of insomnia.  So, with that, good night/good morning.  I hope to see you again soon.  :)

7 Quick Takes

1.  I have sat down in front of the computer so many times this past month and started a couple of unpublished drafts. 

2. Will this get published?

3. Construction is moving SOOoooooo slow in our house.  But for the first time ever, we are getting estimates to have a fence installed in our back yard.  It is weird and wonderful to think of hiring someone to get something done around here.  A fence will be heavenly. 

4. Augie - does he or doesn't he have Williams Syndrome?  Refresher, clinically diagnosed but the confirmation blood work has come back negative.  Our pediatrician is sending him for an ECG and developmental pediatrician (on the wait list...it takes a year to get in) to be safe. 

5. Catie...is FINALLY WALKING.  You may remember I posted this a month+ ago.  Well...she walked that day.  Now, at 20 months, she has decided it is better to be upright.  Praise the Lord.  I am no longer scrubbing knees (hers and her clothes).  Orthotic ankle braces coming soon. 

6. What are you listening to these days?
Rosie and I are hooked on "Call me Maybe" and "Jungle Drum"

7. One more week of babysitting the 6 year old.  The first half of our summer was good.  The second half, much more challenging.  Rosie and said 6 year old do not get along more often than not any more.  It is a bit challenging on everyone.  Counting down the days until the end of summer, one last/first beach trip and the start of Pre-K.  Yes...we decided to enroll her at our parish school.

 Quick Takes are brought to you by Jen.

stuck in the middle

Earlier this month Augie was diagnosed with Williams Syndrome. The diagnosis was based on facial characteristics and speech delays and personality consistent with the Syndrome.  It was an emotional week as I explained to friends and family and tried to wrap my brain around what this diagnosis would mean for Augie and our family.

And then a strange thing happened.  The first blood test came back negative.  My initial response was "praise God".  But this did not rule out WS.  WS is still a possibility.  SO, the problem now lies in how far do we go for a diagnosis.

Typical next step is a test called the microarray.  The genetic counselor is researching a next step of a test called gene sequencing (which my brother explains as trying to understand space travel back in the 50s).  Both tests are $$$. Quick estimate from a friend of the sequencing is >5k. 

So, now....How far do we go to confirm or rule out the diagnosis.  Current surveys (from a WS group on facebook) say do the microarray (CGH) to be sure.  I need to confirm cost and then decide our next step.  
Hypothetically, if we were to stop here...what assumptions do I make.  Does he or doesn't he?  I will keep you posted.

20/20 Williams Syndrome Special

part 1:
Where Everybody Wants to Be Your Friend | Video - ABC News

part 2:
Sunny Personalities, Serious Consequences | Video - ABC News

diagnosed

Today my son was clinically diagnosed with Williams Syndrome.

A few weeks ago my brother, a medical student, mentioned that Augie had textbook characteristics.  I looked it up and was surprised.  Not only by the facial features, but the personality traits.  Primarily speech delays and super friendly, even to strangers.

From early on there have been things going on.  A mother's instinct, you could say.  The first month he was in our care we were at his Pediatrician four separate times.  Dx: bronchiolitis and pre-asthmatic.  He had these mini, mild (never-quite-diagnosed-as) seizures. Even today, I am not sure they were seizures...possibly temperature sensitivity (he wakes up cold and it takes him longer than usual to warm up, he is usually shivering during this time).  His forehead also had an unusual attraction to concrete.

If you look closely at this picture, it has been Photoshopped...along with many others, to attempt to conceal the bruisey head in otherwise cute pictures.  

We first met with a pediatric neurologist around his first birthday.  One tight heel cord led to two MRIs which led to two diagnoses: 1. Possible Tethered Cord (this is a mild form of Spina Bifida....I think this was a 'CYA' dx on the part of the radiologist, I don't think he has this, but it will be monitored over time).  2. Chiari 1 Malformation (an incidental finding that we are blessed to know in the event of future problems). 

Oh yeah...and as I mentioned before, speech delays.  He was in weekly OT from 6-18 months old at which point he qualified out.

So, in a nutshell, we have been hot on the trail of whatever THIS was for a while now.  The conversation with my brother was not a shocker.  It will take about two weeks for a confirmation by way of the genetic test.  But, as soon as we stepped into the geneticist's office, he was throwing out all these words and quickly confirmed the clinical diagnosis.

So, tonight, I read.  I research.  And the reality starts to sink in.

In my reading words like "mental retardation" and "adult day homes" stand out.  As do "shorter life expectancy" and "lack of social boundaries".  I am encouraged that he is highly functioning.  As a whole, he is doing so well.  He is a beautiful, amazing, sweet little boy.  He is my heart.  Tonight my heart hurts a little as I attempt to process what this means for his future.  He has a 50% chance of passing this on to his children (though many WS adults don't have the ability for lasting relationships).  That is one of a long list of what may lay ahead for an adult with WS.

So many random things are running through my head.
- I am grateful for the show Parenthood and processing the idea of life with a a special needs child.
- God intended us to be parents to special needs kids, before we even met Catie.
- I am glad I enrolled Rosie in pre-K to have some time to focus on the needs (and OT appointments) for the babies this upcoming year.
- I am grateful for a Catholic special needs school very near by, and that adoption subsidies would likely cover any cost involved.   

I am sad.  I want to cry.  This will impact our future...and certainly, obviously his.  I know there is undiscovered joy and greater meaning that will be revealed over time.  For now...we are processing.