Kylie May

Kylie May

Layla Faith

Layla Faith

Zoey Noelle

Zoey Noelle

Boyee

Boyee
Our baby boy, due March 16th.

Tuesday, January 10, 2012

A Diagnosis

Well, it's been six weeks since I posted about a normal Tuesday appointment. Generally speaking, my six week post-op went well this morning. Bryan didn't come, since it wasn't anything special. I didn't realize how difficult it would be, to sit in the waiting room by myself. Every single emotion from November 29th came back to me. Every little detail of that Tuesday morning appointment. Moments like that really catch me off guard. As I told my Dr., I was doing really good until I got there.

Our geneticist, who was always good at stalking us, stopped in to share some news today. The preliminary results came back from Cedars-Sinai. After studying Layla's DNA, x-rays and ultrasounds, her diagnosis is Achondrogenesis - Type II. It is not hereditary; it is a sporadic mutation; a lethal skeletal dysplasia that affects 1 in 40,000 to 60,000 births.

We are very pleased with this diagnosis. Basically it means that the odds of it happening with our next baby (yes, we want more kids.) are very unlikely. There are no guarantees in the medical world. This is the diagnosis that we've had since August. However, we didn't know the specific type, which is what determines if it's hereditary or not. Bryan and I had chosen not to share the diagnosis. If you google it, and now you probably will, the pictures are not pleasant. We wanted everyone to see Layla vs the images of 'babies with this' on the internet. Layla Faith was perfect in God's eyes and we think she was beautiful.

I've been reading an eBook by Gungor. Their latest album, "Ghosts Upon the Earth" is musically addicting. There is so much to hear if you really listen. The book describes the meanings of the lyrics and the reasons behind all of the things that were done musically for every song. Here is one of my favorite excerpts when Gungor is describing "The Fall".

Absence can actually be a testament to presence. I only long for those that I love, and I only love those who have been present with me in some way. If there was no one to love, there would be no one to long for. It is this mixture of emotions that "The Fall" explores. There's still a beauty to it. The melody is one of my favorites on the album, and I think the strings and the oboe at the end are just gorgeous together. It represents so well what I often feel internally. Mixtures of love and fear, courage and cowardice, wonder and complaints...It's not really the way I would prefer it to be, but that's how it is, and I'm learning how to be content in the night. 

2 comments:

Lyla Our Little Miracle said...

Best wishes for expanding your family. Layla Faith is a beautiful angel in heaven.

Tristen and A.J. said...

yay! i am so glad that you have a diagnosis... and this one at that (well if you have to have a fatal diagnosis ;o) ) the relief with not being able to pass it on is a comfort. it is a blessing to know and move forward with it. although it certainly does not define her- she is so much more and so much more special. i actully just had an appointment this week and was in the same room we got told that Sophia had a fatal form of dwarfism (at our 20 week wk appt) and i was almost hyperventalating. yikes. i was a mess.

anyway. its wed. i thought of you. another week has gone.