Baby Kohr Chronicles

Sorry for not posting sooner...our last appointment was on Monday, and it didn't exactly go as we had planned. We had an ultrasound and then a consultation with one of the High Risk docs. Unfortunately, at the ultrasound we discovered that we lost one of the twins. Twin A looked great- good heartbeat, good growth. But Twin B did not have a heartbeat. They did two separate ultrasounds using different equipment to make sure.

Needless to say, we are pretty disappointed. But, the doctor has assured us that the loss of one twin should not have any affect on the surviving twin. Apparently, up to 20-30% of twin pregnancies lose one of the twins in the first trimester. Because it is still early, the tissue of that twin will most likely be reabsorbed into Kara's body.

So....that is the latest. We go back on Jan. 7 for a bunch of appointments: ultrasound to check for nuchal thickening (i.e., determine if the baby is sick), nurse's appointment to check BP, etc., prenatal visit with one of the doctors, etc. So that should be a busy day.

We are trying to stay positive and trying to focus on ending up with one healthy baby at the end of this. Thank goodness the holidays are upon us! We are pretty anxious to get through this next appointment, so the holidays will provide a welcome distraction!

We look forward to seeing everyone in the next few weeks!

I don't think we ever circled back and tied up the loose ends after we had Gracie. As you may or may not recall, when we actually had Gracie, we didn't have a very good idea of what had caused all of the issues. All of the genetic testing throughout the pregnancy had come back inconclusive.

Well, after she was born, we had an autopsy performed. Most of the findings were things we already knew about (i.e., organs small for dates due to the stress of the hydrops on her developing body, etc.). Luckily, our genetic counselor asked the pathologist if she could see Gracie after the autopsy was complete. When she was able to examine her, she realized that there were some very specific physical features that point toward a rare, specific genetic condition.

So, our working diagnosis is that both Matthew and Gracie were afflicted with Lethal Multiple Pterygium Syndrome. It is a fatal condition that only affects babies in utero, and the babies typically do not make it past the end of the second trimester. (There is a non-lethal version that can be very debilitating, but molecularly it is different so it is extremely unlikely we have to worry about having children with the non-lethal type.) The main components are a cystic hygroma, hydrops and webbed/fused joints. Because it is a genetic condition and neither Matt nor I are dominant carriers (you would see these attributes in one of us if it was a dominant condition), we are both recessive carriers. As such, there is a 25% chance that any child we conceive will be affected. The good news is that it is only a 25% chance. The bad news is that the stats reset for each pregnancy/baby. So each twin we are carrying right now has a 25% chance of being sick.

There is a way test for the gene. But there are only two labs in the world that do the testing, and both are in Germany. Unfortunately, they can only test with 20-30% accuracy, so the results are not very reliable. Until we confirm using genetic testing, there is always a chance something else is potentially the cause. However, statistically, the other possibilities are so unlikely that our genetic counselor and we agree that Lethal Multiple Pterygium Syndrome is the most likely explanation.

Because we have had two consecutive pregnancies affected by this syndrome, the doctors are pretty confident that if they see a cystic hygroma at the end of the first trimester it means the baby is sick and won't survive.

Until we get through that ultrasound, we are trying to take it a day at a time and trying to take some comfort in the fact that the odds are in our favor. We have been the statistical exceptions to many rules over the past few years, so hopefully that means this time the number will work for us.

Stay tuned! We will keep you posted as we learn new information and after each appointment. In the meantime, just wanted to try to bring everyone up to speed on what we learned since Gracie was born.

Well, looks like we are firing up the blog again :-) We have some exciting news that we have been eager to share for a few weeks: we are pregnant with twins! It is early yet as we are only about seven and a half weeks along, but we are staying positive and trying to enjoy being pregnant again.

Kara had her second ultrasound on Thursday. Both babies have good, strong heartbeats, and their growth is right on track. She also met with our infertility doctor, who has officially released her from their practice and into the hands of the High Risk doctors that we used last time. We have an appointment next week with the High Risk folks for another ultrasound and for a consultation about prenatal care, twin pregnancies, our complicated history, etc.

We won't find out for a few more weeks if either/both of the babies is/are sick. But we will go into all that in the next post:-) For now, we just wanted to officially share our good news! As always, any prayers and positive energy you can send our way are greatly appreciated!

Love, Kara & Matt