Monday, January 19, 2009

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...

31 comments:

Monica @ Writer Chic said...

Of course, we will be praying for Lauren and her family. And for you, too, hon. Always for you.

CIRCLE OF LIFE said...

I PRAY FOR YOU THAT THROUGHT THIS THE HEALING PROCESS WILL BE EASIER . I HOPE TO God That you feel teh strength to once try again . Our god is amazing and I just know that he wants to bless you and your family in every way. I countinue to pray for the strength that you continue to carry along your journy with us and that you feel teh blessing of the lord with a sweet micerial once again and in fact this will be the baby you will see playing in the playground build for his brother or sister . amen ..

have a blessed day!

Stephanie said...

Prayers coming from Katy, TX for all of you!
You are so strong and so is your husdand to share your life with us..I truly respect you both!

Open your Eyes. said...

I am praying and hoping with faith for a positive outcome. Please keep us up to date on how Norahh gets on xxx.

Mare said...

I will most surely pray for you, Spencer and little Norrah and her family.

My thoughts with all of you.

Nicole said...

Praying for you and your friend...

Stephanie said...

Thank you for sharing Lauren's story with us. I will include her in my prayers and as always you and Spencer will remain there!

rebecca said...

I am praying for all of you!

Blessings and Hugs,

Rebecca

Jess :) said...

Stacy,

I will most definitely continue praying for you and Spencer, and will now add Lauren, her husband, and baby Norrah to my prayers. I just can't believe how many things are going on right now.

Praise the Lord for the 2 healthy births this past weekend!

Sending lots of love and hugs,
Jess :)

Cara said...

Test and un-known diagnosis are always scary.

Prayers abounding for all of you.

Chelsea Pang said...

Yes, I am praying for your friend.

Keep your chin up with the minutia of having another baby after your loss. I am sure doctors, etc, 'have to cover all their bases'.

heidi marie said...

praying for baby norrah and her family, as well as for you and your family.

Lauren said...

Thanks, friend! We appreciate all the prayers for sweet Norrah. I will keep you updated tomorrow through Twitter. With love,
Lauren.

Amy said...

Adding baby Norrah and her family to my paryer time.

Also for you and Spencer and and strngth!
Think of you often!

Amy

Susan said...

I'll be praying for Baby Norrah and her Mommy and Daddy, and NEVER stop praying for you.

Holly said...

Praying for you and your friend!

Julie Simmons said...

continuing to pray for you and your husband...not only are you a fellow teacher, but a coach's wife too. i know that these roles are exhausting when life is "regular", so how much more when you are grieving your precious boy. my heart and prayers go out to you! lifting you up,

clkocher said...

Adding Baby Norrah to my prayers and continuing to pray for you and Spencer.

~Kelli said...

still praying!

Jen said...

Praying for baby Norrah, and of course for you and Spencer. Hearing that it was "really bad luck" once again probably doesn't help things- but you know, as I read that, I had to shake my head at luck- since that makes it sound like God didn't have His hand in control of little Isaac's life, and of course still does! I know you know this, but I just wanted to let you know that every single day I think of you, and your strength, and your love of Our Lord. You are amazing!!

Joy said...

Praying it is NOT Tay Sachs. I know of this disease, not through experience though, and my eyes about popped out of my head when I saw the words. Hoping and praying!!!

Laura said...

Praying for you...think of you so often. So proud of you...such a brave mama...even on the days you don't feel like it.

Sending love,
Laura

Brenna said...

I think about you, Spencer and Isaac often. Sending lots of hugs in your direction, and holding Norrah and her family in my thoughts as well.

Cynthia said...

Praying for your family.

Amy said...

Please keep us up to date after the eye test!

~ shi ~ said...

I am praying for you both and your friend! May God Bless you greatly!

Valerie said...

Sending prayers for Norrah and her family - and for you and Spencer too.

Danielle Holsapple said...

I am praying for Lauren and Norrah. And you are always in my prayers.

ReadyAim said...

Praying for your family and Lauren's.

Anonymous said...

All I can say is "wow." You are a beautiful person, and I truly believe God will bless you.

.raech. said...

Stacy, please let Lauren know we are praying for her. My daughter, Kailey, was diagnosed with Benign Myoclonus in Infancy...We had several home videos of her twitching and having seizure like activity. She wore an EEG home for four days and we taped her with that on as well. She recently grew out of it and we have had no more incidents of it. If she has any questions on that I would be happy to answer them. mrparsley07@yahoo.com

You and Spencer as always are in my prayers. I think of you daily and am encouraged daily by your strength! God Bless!