Meet Claire, a.k.a. Claire Bear, who is set to join our family in May 2013.
Through the wonders of Facebook, most of our friends and family know about Claire's impending arrival, but, until now, we have only told a few of you about Claire's condition. On November 6, 2012, we learned that Claire is going to be born with a condition known as an "omphalocele" - a word that took me awhile to be able to pronounce, and even longer to be able to spell. An omphalocele, or an "O" for short, is a rare birth defect that arises when the abdominal wall does not close properly during fetal development. As a result, some organs develop outside the abdomen within the umbilical cord. Below are some additional quick facts about "O"s in general:
Source: omphalocele.net
The website I just mentioned is actually a great place to obtain more detailed information should you wish to learn more about omphalocles. In the meantime, however, here is a small timeline of our specific experience with this condition to date:
October 30, 2012 (11 weeks): This was our initial appointment at Womens Care Center for the "first trimester screening," and when we first heard the phrase "omphalocele." During the ultrasound, the tech (Sue One) mentioned that it did not look like Claire's organs had returned to her abdomen. [Side note: During weeks 6 to 10 of a pregnancy, a baby's intestines and other abdominal organs actually project into the umbilical cord through a small opening in the abdominal muscles.] There did not appear to be much cause for concern, however, as we were only in week 11 of the pregnancy, and the organs typically return to the abdomen by around week 12. The ultrasound tech and the doctor both assured us that there was most likely nothing to worry about, and scheduled us to return on November 6th for a follow-up ultrasound.
November 6, 2012 (12 weeks): Of course, as you probably already guessed, this ultrasound confirmed that some of Claire's organs decided to be different and remain outside the abdomen. We did not know, however, exactly which organs were inside the omphalocele at that time. Instead, we were referred to Maternal and Fetal Medicine, which deals with high-risk pregnancies, part of Eastern Virginia Medical School (or "EVMS," which is located within Sentara Norfolk General Hospital), for a more in-depth ultrasound
November 21, 2012 (14 weeks): After confirming (via ultrasound) that the omphalocele was still present and that it most likely contained Claire's bowel, and possibly some of the liver, we met with geneticist (Sue Two) to discuss different testing options as there was a 25% chance that Claire might be born with other abnormalities. We discussed the pros and cons of amniocentesis, but ultimately opted for a noninvasive blood test that could determine whether Claire had (a) Trisomy 21, or Down's Syndrome (99% accuracy); (b) Trisomy 18 (99% accuracy); or (c) Trisomy 13 (80% accuracy). We scheduled our next appointment (for an ultrasound focusing on Claire's heart) and went home to wait for the results of the blood test.
December 3, 2012 (16 weeks): This appointment mainly consisted of a very long (because Claire refused to stay still) and awkward (because both the doctor and the med students following her around spoke very little English and thus were very quiet) ultrasound, the main focus of which was Claire's heart. Given the communication barrier, the ultrasound findings were delivered to us by a different doctor, who we believe looks exactly like the main character from "Despicable Me."
All kidding aside, Dr. Gru is fabulous and amazingly talented. He actually developed the software (licensed by GE Healthcare) that is used to detect fetal heart problems via ultrasound. We feel very lucky to have him on Claire's case.
Dr. Gru told us that Claire's "O" was still present and most likely contained just her bowel, making it possible that it could be fixed with a quick surgery after birth. To that end, he told us that he would be referring us to the pediatric surgeons at CHKD for a consult. Dr. Gru also said that it looked like Claire might have a small hole between the two pumping chambers of her heart - a pretty common finding in "O" babies - but it was not a concern at this time and would most likely repair on its own.
And, in the best news of all, we got the results from the genetic testing, which essentially took the risk of Down's, Trisomy 18, and Trisomy 13 off the table. Additionally, we found out that Claire is (as should be obvious by now) really a Claire, much to my excitement and Bo's concern (he is threatening to build a brick wall around our house to keep out the neighborhood boys).
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
We have had many, MANY appointments since December 3rd, but we will summarize those in another post (with the hope of finally catching up so that subsequent posts will be current) to avoid making this one any longer than it already is!
In closing (ugh, sounds so formal), there are a couple of reasons for creating this blog, but the main one is to streamline our ability to share information about Claire with our friends and family. While we will do our best to keep our loved ones up to date via more conventional methods - face-to-face contact, phone calls, e-mails, text messages, etc., we realize that this might not always be possible, especially once Claire is with us. A link to this blog has been provided to as many people as we could think of, but please feel free to share it with anyone you think we might have missed!
Much love,
Val & Bo
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| Isn't she cute? |
- Omphaloceles can range from small (where only a small portion of the intestines is present outside of the abdomen) to large (where the intestines, liver, and other organs are outside).
- The protruding organs are covered by a translucent membrane, or sac (as opposed to a similar condition called "gastroschisis," where the organs are free-floating).
- While the presence of an omphalocele can be an isolated condition, many "O" babies also have other abnormalities:
- Chromosomal abnormalities, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy;
- Beckwith-Widemann Syndrome (BWS);
- Abnormalities of other organs or body parts (spine, digestive system, heart, urinary system, etc.).
- Small "O"s occur in one out of every 5,000 births, while large "O"s occur in one out of every 10,000.
- Omphaloceles are typically diagnosed by ultrasound, usually between weeks 12 to 18 of the pregnancy.
- "O" babies are typically delivered via Cesarean to avoid any potential injury to or rupture of the omphalocele during birth.
Source: omphalocele.net
The website I just mentioned is actually a great place to obtain more detailed information should you wish to learn more about omphalocles. In the meantime, however, here is a small timeline of our specific experience with this condition to date:
October 30, 2012 (11 weeks): This was our initial appointment at Womens Care Center for the "first trimester screening," and when we first heard the phrase "omphalocele." During the ultrasound, the tech (Sue One) mentioned that it did not look like Claire's organs had returned to her abdomen. [Side note: During weeks 6 to 10 of a pregnancy, a baby's intestines and other abdominal organs actually project into the umbilical cord through a small opening in the abdominal muscles.] There did not appear to be much cause for concern, however, as we were only in week 11 of the pregnancy, and the organs typically return to the abdomen by around week 12. The ultrasound tech and the doctor both assured us that there was most likely nothing to worry about, and scheduled us to return on November 6th for a follow-up ultrasound.
November 6, 2012 (12 weeks): Of course, as you probably already guessed, this ultrasound confirmed that some of Claire's organs decided to be different and remain outside the abdomen. We did not know, however, exactly which organs were inside the omphalocele at that time. Instead, we were referred to Maternal and Fetal Medicine, which deals with high-risk pregnancies, part of Eastern Virginia Medical School (or "EVMS," which is located within Sentara Norfolk General Hospital), for a more in-depth ultrasound
November 21, 2012 (14 weeks): After confirming (via ultrasound) that the omphalocele was still present and that it most likely contained Claire's bowel, and possibly some of the liver, we met with geneticist (Sue Two) to discuss different testing options as there was a 25% chance that Claire might be born with other abnormalities. We discussed the pros and cons of amniocentesis, but ultimately opted for a noninvasive blood test that could determine whether Claire had (a) Trisomy 21, or Down's Syndrome (99% accuracy); (b) Trisomy 18 (99% accuracy); or (c) Trisomy 13 (80% accuracy). We scheduled our next appointment (for an ultrasound focusing on Claire's heart) and went home to wait for the results of the blood test.
December 3, 2012 (16 weeks): This appointment mainly consisted of a very long (because Claire refused to stay still) and awkward (because both the doctor and the med students following her around spoke very little English and thus were very quiet) ultrasound, the main focus of which was Claire's heart. Given the communication barrier, the ultrasound findings were delivered to us by a different doctor, who we believe looks exactly like the main character from "Despicable Me."
 |
| Dr. Gru |
Dr. Gru told us that Claire's "O" was still present and most likely contained just her bowel, making it possible that it could be fixed with a quick surgery after birth. To that end, he told us that he would be referring us to the pediatric surgeons at CHKD for a consult. Dr. Gru also said that it looked like Claire might have a small hole between the two pumping chambers of her heart - a pretty common finding in "O" babies - but it was not a concern at this time and would most likely repair on its own.
And, in the best news of all, we got the results from the genetic testing, which essentially took the risk of Down's, Trisomy 18, and Trisomy 13 off the table. Additionally, we found out that Claire is (as should be obvious by now) really a Claire, much to my excitement and Bo's concern (he is threatening to build a brick wall around our house to keep out the neighborhood boys).
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
We have had many, MANY appointments since December 3rd, but we will summarize those in another post (with the hope of finally catching up so that subsequent posts will be current) to avoid making this one any longer than it already is!
In closing (ugh, sounds so formal), there are a couple of reasons for creating this blog, but the main one is to streamline our ability to share information about Claire with our friends and family. While we will do our best to keep our loved ones up to date via more conventional methods - face-to-face contact, phone calls, e-mails, text messages, etc., we realize that this might not always be possible, especially once Claire is with us. A link to this blog has been provided to as many people as we could think of, but please feel free to share it with anyone you think we might have missed!
Much love,
Val & Bo
