I Don't Even Know... Part 2

So after a very LONG two week wait, we headed to CHOP. We were there at 7:30 am and the first thing on our agenda was baby's echocardiogram. This was basically a very detailed ultrasound of his heart to see if all the chambers were there and everything was working properly. We were there for maybe 30-45 minutes and then were told the doctor wanted to meet with us directly after the echo, which automatically triggered to me that something was wrong. As it turned out, they found a Ventricular Septal Defect, or VSD. This is a moderate sized hole between his left and right ventricles. Sometimes it closes on its own or gets smaller, and other times it will need surgery. But overall not a huge concern or worry for us. 

Next, we had an ultrasound so they could measure everything on the baby and get as detailed information as possible. They measured all of his internal organs, his chest, his head, all of his arm bones, his ribs, his legs, and his hands and feet. This took over 3.5 hours though because he was being a little wiggle worm and could not get leg measurements for an incredibly long time. 

After the ultrasound we waited to meet with a genetic counsellor and doctor to go over what they found. The doctor then told us that they found that all of his long bones were 3-4 weeks behind, his femurs especially were very curved/bowed, his skull was lacking mineralization, and he only had 11 ribs on each side instead of 12. With all of these things put together they said it pointed toward Campomelic Dysplasia, which was a lethal form. If we wanted to know for sure if this was the case we would need to do an amniocentesis. So my husband and I discussed it and we decided to go ahead and get an amnio done. 

In the two weeks waiting for the results I was so up and down. With CD there was only about a 5-10% survival rate. It broke my heart to think I may never be able to bring my son home. But also I found a support group where there were many children with CD that were survivors and doing very well, so this gave me a glimpse of hope. 

With the call from the genetic counsellor, we found out the baby does NOT have Campomelic Dysplasia. We had a huge sigh of relief and then another moment of anxiousness. We still didn't know what was wrong. So we scheduled a CT scan at CHOP to see if they could get any more information.

After the CT scan, which took barely no time at all, we met with the doctor again. She told us they believed there was possible old fractures that had previously healed on the baby and that this led them to Osteogenesis Imperfecta, or OI. This has varying severity in the different types, one type is is normal or close to normal height and just a higher chance of breaking bones, one is lethal, and the last is somewhere in between the other two in severity. So we had another scary wait. 

About two and a half weeks later we got a call from the genetic counsellor. She told us they found a mutation and that baby has Type III OI. Type III is the middle severity. So we made an appointment to go to CHOP again and get an ultrasound and meet with the doctor who takes care of the babies with OI. 

The ultrasound went pretty well, the legs and arms were measuring behind which we knew would happen, and his chest was in the 10th percentile, the OB said this is still within a good range as the issues begin at around the 2.5 percentile. And the skull looked better than the last ultrasound which was also good to hear. 

But then we met with the doctor. We first looked in detail at the gene mutation found in the baby's DNA. Apparently they only found two other instances of babies with this exact mutation and we do not know what happened to either child after birth. So that was a bit scary to me. Then we looked at the CT scan. She told us that they believed his type to be somewhere between Type II(lethal) and III(varying) because his skull seemed more like Type II and his chest looked more like Type III. All of this information was just so scary for me that I was just trying to hold back tears and my husband was the one talking to the doctor. I just remember trying my hardest to keep myself composed. Thank God for my husband being as strong as he is because I needed him to speak for both of us which he did wonderfully. 

So that is where we are at now. I am currently 26weeks and 3 days pregnant with our son, who we've decided to name Gavin Alexander Baker who has Osteogenesis Imperfecta. We are at this point trying to read and gain as much information as possible about how to care for a child with OI and we are hoping for the best.