26 weeks...another update

Well, we just got back from B'ham, where we had another u/s done. Good news first: her heart and brain still look great. And it doesn't look like the liver is inside the omphalocele. Bad news: her condition may be way more complicated than we had originally thought. The perinatologist thinks she has cloacal exstrophy, which is a very rare congenital birth defect. We aren't even sure if it's a girl (hopefully it is, b/c things sound way more complicated if male genitalia are involved). The reasons the doctor suspects it's cloacal exstrophy is b/c her pelvic area is wider, as if during early development, that area didn't fuse together properly. It was even apparent to us on the u/s when we looked at the spinal column. As it reaches the sacrum, the parallel vertebrae curve outward. Omphaloceles are also a result of this condition. She cannot see the bladder, which she suspects is because it is split in two. We saw no opening through the skin, so spina bifida is not probable.

In regards to her extremities, the left foot doesn't look severely clubbed. The right foot was too hard to see, but she is banking on it being severe and irreparable, mainly b/c her fibula isn't present. (Yes, a slightly minor detail they failed to notice at the last u/s.) Without a fibula, obviously her Achilles tendon and whatever else can't function properly. Her right calf is also smaller than her left, so she assumes there is less muscle mass, as well. I can't exactly imagine what not having a fibula is like, but the likelihood of her having use of that leg seems minimal.

So, our priorities are to safely deliver her and have immediate surgery on her omphalocele (although, this may not be possible...her abdominal area is measuring small, so there may not be room initially for whatever organs need to be squeezed back in). In addition, they need to fuse the two halves of the bladder together (this also needs to be done to the uterus, clitoris, penis, or whatever else is involved). Our other major concern is making sure there is proper urine and bowel output...often with this condition, the rectum is closed, and there are issues with the nerves controlling the lower urinary tract. The clubfeet will definitely take a back burner until she is stable.

But on a brighter note, she looks beautiful. We saw a wonderful profile of her face, and she looked just like me. ;-) I feel her moving around constantly, and we are so anxious to finally meet her. We will most likely deliver in B'ham b/c they have the only pediatric urologist in the state. It will be nice to have a pediatric neurosurgeon available, too. I asked the perinatologist if there are any physicians in the U.S. who are more experienced with this type of diagnosis, but she thinks it is too rare for any one doctor to be considered an "expert".

So, please keep praying. I'm sorry if my post doesn't make a lot of sense. Hopefully, we'll have more concrete answers soon, although I'm guessing we won't know what's really going on until she is born.

Thanks again and take care,
Michele

24 weeks and counting...

I just wanted to give a synopsis on my family before I started posting updates on our current situation. My husband, John Mark, and I have been married for a little over 2 years, and we have a beautiful little son, Jack, who is 13 months old. We are devout Roman Catholics and hope that we can raise our children to be holy and devout disciples of Christ. John Mark is an electrical engineer and is studying for his master's degree in network security. The ultimate computer nerd! :) I am a stay-at-home mom, and I love every minute of it (well, most of the time). We are both graduates of Franciscan University of Steubenville. I went to graduate school at Emory University to study molecular pharmacology, until I felt called to move to my hubby's town a few hours away to get married and raise a family.

Jack is the most wonderful little guy! As a baby, he was incredibly laid back and independent. At this point, he looks, walks, and acts like he's 2, so I constantly have to remind myself that he's barely a year old! He really is the most amazing blessing in our lives...I had no clue how fulfilling it would be to be a mother until he landed in my arms. I often find myself staring at him in wonder and awe while he plays, flips through his books, dances to music, or chases the cat while laughing hysterically. I'm sure most parents know what that's like.

When Jack was about 8 mos old, we found out we were expecting again! Our little girl, Bernadette, is due on November 7, 2007. We are currently 24 weeks pregnant. At around 18 weeks, I had a standard ultrasound (u/s) scheduled. My OB noticed a slight arrhythmia in her heart rate, which is actually relatively common, so I only freaked out a little bit. He scheduled me for another u/s 3 weeks later and had planned on referring me to a perinatologist to study the heart for any defects or malformations. I went to my next appointment a little nervous, but hopeful that her heart was strong and healthy. And I was right! However, my OB then noticed that she had a protrusion around her umbilical cord that he believed to be an omphalocele. I was pretty shaken up by this information, not really knowing anything about what this meant for our daughter. We ended up seeing the perinatologist in Birmingham to confirm the diagnosis. And we got even more hard news. Oftentimes, a baby with an omphalocele is found to have other birth defects. Thankfully, her heart, lungs, and brain appeared normal, so the chance of it being chromosomal was slim. But he discovered that her sacrum, or tail bone, was small and poorly formed. He also noticed that she had clubfeet. The omphalocele appeared to be moderate in size and included her intestines, part of her liver, and possibly her bladder. I guess only time will tell how severe her condition is and what can be done about it. We don't know if she will ever be able to walk...if there is nerve damage at the base of her spine, which is likely since she also developed clubfeet (her feet are controlled by sacral nerves), she may be paralyzed and/or have bowel and bladder issues. Needless to say, the wait is excruciating. Simply waiting until the next ultrasound feels like an eternity.

We are incredibly blessed to have so many faithful people praying for Bernadette. And we have undoubtedly received so much grace from those prayers. This is certainly the most difficult thing we have ever gone through...I have felt so many mixed feelings - from anger, to sadness, to fear, to joy that she has made it this far, to more fear...

So, keep praying! We will keep you posted on the upcoming ultrasounds, consults with surgeons, and any other news that we hear.

God Bless,
Michele, John Mark, Jack, and Bernadette