Sunday, June 12, 2016

Facing the Facts.

Getting what will become an autism diagnosis for your 17 month old baby girl is...difficult.

Finding out that she will most likely be severely cognitively impaired is brutal.

The thought of Zella potentially never being able to communicate with us?


But while we know the statistics are bleak, our hope is in Him.

Thursday, June 9, 2016

Swimming Pool Excitement

(I had a huge, wonderful blog post here detailing our entire build, and then lost the whole flipping thing...this is a brief, but horrible rendition of said original).

Jake and I are excited to announce that we have officially begun the process of building a pool in the back yard!  Today we finalized and signed the contract with our pool builder, JRI Pools (Fayetteville, GA) and mailed our deposit --- things are getting real.  They are scheduled to begin the dig next Friday or the following Monday, and supposedly it will take 4 to 6 weeks (although I am betting on more like 8 to 10 weeks as I'm certain there will be at least one torrential rainstorm every other day once they begin).

Zella is our primary reason for putting a pool in at this moment in time.  Initially we thought we would wait until all our kids were excellent swimmers (so giving it another couple of years at the earliest), but Zella threw a kink in our plans.  She does weekly physical therapy, occupational therapy, and speech, but she has made the *most* progress in her aqua therapy, done at Katie's Pool, an adapted aquatics center.  We feel like opting to build the pool now rather than later will greatly benefit Zella in the long run, so we are going for it!

Jake has fond memories growing up with a pool, but with those fond memories come newer, darker images of treating drowning and near-drowning victims as a pediatrician.  We realize the only *real* way to prevent a drowning is by constant, vigilant adult supervision at all times.  In order to further mitigate our risk, we have opted to have an automatic pool safety cover installed as well.  This will give us some additional protection while simultaneously allowing the kids to use other parts of the backyard as usual.

Below is our pool some images we used as inspiration for the pool.  Once they begin excavation, I will update with actual photos :-D

Friday, June 3, 2016

Results are in.

Helsmoortel-van der Aa syndrome.

Zella has an incredibly rare genetic disorder with a CRAZY name.  For now I'll refer to it as ADNP syndrome, its' other name.  Here are a few characteristics of the disorder (as per OMIM)...

*feeding problems in infancy
*recurrent infections
*short stature
*joint laxity
*hand abnormalities
*congenital heart defects
*seizure activity
*vision problems
*dysmorphic facial features
*intellectual disability
*sleep abnormalities
*severe reflux

...and the list goes on and on.

Thanks to a $22,000 test done by GeneDx, we have our answer.  But only thanks to our Lord do we have the strength to continue to help Zella grow and develop into the person He made her to be.

To our knowledge, this syndrome does not look to be one where she will end up regressing, although it is possible.  And she will most likely eventually walk, but it will be much later (perhaps closer to 3 years old).  Zella seems to be on the mild end of this spectrum.

The genetic issue seems to be de novo (new - unrelated to Jake or I), and will not affect the other kids as far as heredity goes.  We will be enrolling Zella in any/all

For some light reading, feel free to hop on over to ADNPKids!

Sunday, September 13, 2015

Rented for the Masters

In the hoopla of Zella's test results, I completely forgot to mention something uber awesome...

After a few crazy "QUICK!  HIDE EVERYTHING!" house showings, we are happy to announce that our home has been rented for this upcoming 2016 Masters Tournament!

We are so happy it rented quickly as I'm not sure how many more pre-tour house cleaning sessions  my kids could take.  So for now we are enjoying the place...until January through March, that time of year when Augustans walk around Target and Publix like they are auditioning to be extras in "The Walking Dead" in between endless pre-Masters home purging.  I shall be one of these next year.