Updates

This morning I met with both my general practitioner for a physical, and the genetic counselor at the maternal fetal medicine group Spencer and I went to throughout my pregnancy. Neither were overly eventful... just a regular physical with my doctor, and then basically hearing again what we had already been told about Isaac's condition. It wasn't genetic (which we already knew from the CVS test I had done when I was 15 weeks pregnant), that an omphalocele is multi-factorial (meaning, "they" believe that there are several small little factors that contributed to the omphalocele... though what those factors are aren't known), that Isaac's case was sporadic, etc.

We were told that 1/300 babies is born with a birth defect of varying degrees of severity (though the literature on a giant omphalocele, Isaac's condition, said 1/10,000 live births), and that the recurrence risk is extremely low. Essentially, we were again told that we have just had "really, really bad luck" and that there's no reason to believe that it will happen again. I am hoping that we've been through our share of "bad luck" already as far as pregnancy is concerned... or as far as anything is concerned for that matter :) So no new information, but I do think it was good to talk about it now that my head is a little more clear.

In terms of other updates, both my neighbor and my close friend delivered healthy baby boys this weekend. Our neighbor delivered baby Grant on Friday, and my close friend delivered baby Charlie on Sunday.

I would also like to ask you to pray for my friend Lauren and her baby Norrah. Lauren and I "met" (through our blogs) early on in my pregnancy with Isaac. She has so faithfully prayed for us, had a gorgeous quilt made for Isaac, sent me a cute t-shirt (which I am wearing in my 26-week pregnancy picture), and has just been such a supportive friend, even though we have never met in real life. With her permission, I have copied a portion of an e-mail I received from her below:

Norrah and I went to see the Pediatric Neurologist today after 2 months of her having seizure-like episodes many times a day along with her delayed physical development. The neurologist already ran a few tests on Norrah that all came back normal (EEG, 24 hour EEG and MRI). He also had 6 home videos of her "seizures" that we had taken over the past few weeks which he reviewed. The videos coupled with her normal test results, and her physical exam/medical history have led him to 3 possible diagnosis. 2 are not so bad... and one is a death sentence in human terms.

1. Benign Myoclonus of Infancy - just a twitchy baby, no underlying issues

2. Benign Myoclonic Epilepsy of Infancy - not totally benign as the name would suggest but a form of epilepsy in infancy that goes away during the toddler years. Requires anti-convulsant drugs for treatment of seizures so that it gives the baby the best opportunity to grow and develop despite the brain "misfiring."

3. Tay-Sachs Disease - this is the scary one... a neuro-degenerative disease, genetic in origin, the baby does not possess the right enzymes within the body to break down certain proteins/fats and they end up basically dying a slow death (by age 4/5) - going blind, deaf and paralyzed. Starts around 3-6 months with twitches and slowed development and progresses. Currently there is no cure to this genetic disease.

We could really use your prayers at this time. First and foremost please pray that Our God would completely heal Norrah of these twitches/seizures and get her development on track. Please also pray that she would not have Tay Sachs disease. This disease has been in the back of my mind all of my child-bearing life (as it is a disease of primarily Jewish origin and I am 1/4 Jewish... as is Ken...). I have know about the disease but did not consider - realistically - that it could affect our children. Now, that this has become a real consideration for the doctors it is back on my radar and it is brewing fear... so please also pray that I would have peace and calm in God's promises that he has spoken over Norrah and her life.

On a positive note, the doctor - after examining Norrah in person - said he felt optimistic that we would be ruling Tay Sach's out soon. She will have an eye exam Tuesday that will help to reveal whether or not she has the disease. Babies with Tay Sachs have red spots on their retinas that can be seen during a dilated eye exam. If she does not have the spots then the doctor said that we have essentially ruled out the disease... since her physical exam went very well today.

Please pray that the doctors can figure out what is causing the seizure-like episodes and accurately diagnose the problem. Please also pray that it isn't Tay-Sachs.

And lastly, we really could continue to use your prayers for peace and for joy. Spencer is under a tremendous amount of stress with work, coaching, the mentor club he runs, and with two grad classes. It's very hard for me to see someone I love having such a difficult time. And we both are just missing our sweet Isaac a ton. Thanks for lifting us, as well as these other requests, up in prayer and for continuing to walk with us through this journey. We are so grateful...