Life with the Lee's: 2013

Sunday, March 24, 2013

The Answer

I've been needing to write this post for a long time. It's hard. I guess I have felt like if I don't talk about it, maybe it's not real. As most of you know, we had lots of bad news with ultrasounds during our pregnancy but we never really had a reason why. Then, our girl ended up in the NICU for 2 weeks and we never knew why. On November 30, we got our answer. Layla is missing the end piece of chromosome 11; she has Jacobsen's Syndrome.

When no one could find a reason for Layla's thrombocytopenia, the neonatologist asked a geneticist to visit L to see if he could notice anything. They took her blood while she was still in the NICU but we never heard anything. We were told everything looked normal when we were discharged and that if anything showed up, they would call. We got that phone call about 2 weeks after we were home. The genetics counselor said a small piece of 11q was missing. They had missed it on initial testing, and needed to do further testing (a microarray) to determine the size and location of the missing piece. We took Layla back for the blood work and then had an appointment almost 3 weeks later to find out the results. It really never hit me. At least not until Robert and I were sitting in an office getting the diagnosis. Jacobsen's Syndrome affects 1 in 100,000 live births. Our geneticist had only seen one other case and it was several years prior. We left not knowing much except that we had the answer for her tilted heart, duplicate ureter, hydronephrosis and thrombocytopencia. In fact, 95% of individuals with JS have a blood clotting disorder.

Robert and I went through every emotion possible over the next few days and weeks. We each deal with things differently so there were some rough days. Luckily, I found a support group for 11q on facebook. It really helped to find other families. They also have a biannual conference in San Diego that we plan to attend in 2014. Thankfully, we live in a city with resources too. I immediately called the Children's Center for Development at USM and got Layla on the list. She had an evaluation in January and although she tested developmentally on track (hooray L!) she will be eligible for services since she has the JS diagnosis. She actually starts physical therapy, occupational therapy and speech therapy tomorrow!

The future is unknown. We don't know what all challenges we will face, but we know we will have them. Right now I am just thankful. Thankful, that our sweet girl is so incredibly healthy. Many indivduals with JS have heart defects and feeding problems just to name a few of the health issues. Layla is doing great! She is eating and growing, babbling, cooing, rolling and moving and being our perfect little 5 month old.

Saturday, February 2, 2013

3 Months

Our Layla Bug turned 3 Months on January 10! I am late posting her 3 month stats and most of the stuff below has changed so much in the last 3 weeks - like sleeping through the night! Whoo hoo!

We waited until bedtime for her picture and she was so tired!

3 Month Fun Facts:

She weighs 8 pounds 3 ounces!
She is 20 inches long!
She eats 6-7 times a day. She has 3 bottles at daycare and nurses 3-4 times a day. She eats about 3 ounces!
She wakes up once a night. She goes down for bed about 8:30-9:00 and wakes up around 3:30 or 4:30. She eats and goes back down until morning with no problem.
She is wearing newborn diapers. They are tight on her little leg rolls though!
She is wearing newborn clothes!
Layla loves: having morning talks, smiling, playing on her tummy time mat, eating, bathtime, looking at lights and fans, and pulling mom's hair.
Layla doesn't like: tummy time and being hungry. She's pretty much happy about everything else.
Daycare is going great. Her "teachers" love her and she doesn't mind getting dropped off for the day so it makes it easy on me! I really appreciate my weekends with her now!