|Sticky Bean at 12 weeks|
February 28th - Anatomy Ultrasound
Unfortunately, the day started with a bad sign. As we were driving to the appointment a black cat ran out in front of us! I usually don't believe in that kind of stuff, but I may start.
I honestly feel like we had the EXACT same anatomy ultrasound experience as last time. We were in the same room with the same people. And we got the same bad news.
The tech started by asking if we wanted to know the gender. I said "Yes, but to wait until after we see if he/she is healthy." Look how optimistic I was! She started in the brain and I immediately knew something was wrong. She was taking lots of pictures and when I asked if everything was OK she said "Oh, the doctor has to tell you everything, that's standard." I knew she was keeping something from me. The doctor soon came in and we were shocked to find out that our sweet baby boy has the same exact issues as our angel. Choroid plexus cysts in the brain and enlarged, echogenic kidneys. The doctor did tell us that compared to last time, the kidneys weren't as big or as bright (also, there are no visible cysts, which there were last time).
The real kicker is that last time they suspected something called ARPKD, which is recessively genetic. Baby, Jon and I were tested and came back normal. So, I was really shocked when the same thing happened! We thought we were off the hook. I felt like there must be a genetic issue happening here. The doctors have NO idea what is going on. The doctor even took lots of pictures to share at his monthly conference on "rare cases!"
With that said, we had a very small GLIMMER of hope. We decided that we would try and get a true diagnosis this time. I had an amnio and scheduled a fetal MRI to have a better look at the kidneys. It was a very sad day.
March 11 - Fetal MRI
It was very LONG! The first session lasted an hour and a half. They sent the pictures to the radiologist to approve, but he still wanted more pictures (the tech called him a perfectionist!) Anyhow, they saw my bladder was full so I got a 30 minute break. Then I went back in for another 45 minutes.
During the first session, when I opened my eyes I could see the word "Angel." The blanket they wrapped me in was made my a company "Angelica," but the way it was folded I just saw "Angel." I had to smile at that!
The tech let me look at some of the pictures. Sticky is so darn cute! There was one picture where he had him arms raised up and it really looked like he was saying "enough of this already!" The tech said that my baby was "cute and moved around a lot, which is good." I love our little fighter!!
March 15th - Jon's Ultrasound
The doctors had advised us to get our kidneys checked for cysts to rule our ADPKD (the dominant form of polycystic kidney disease). They had scanned my kidneys during an ultrasound and they looked clear. We scheduled an ultrasound for Jon. Much to our surprise, his kidneys are enlarged, echogenic and cystic. We were in shock (still are), but it made us hopeful that this could be good news for Sticky. The prognosis for ADPKD is more variable than ARPKD.
March 16th - Sticky's Ultrasound
The appointment was pretty uneventful, because NONE of our results were in (my MRI, Jon's ultrasound, etc.) These practices are all in the same medical complex. You'd think they could be faster! Anyhow, Sticky was looking perfect in every way, except his kidneys. His amniotic fluid levels are normal, his bladder was full and even the choroid plexus cyst is resolving itself. However, his kidneys are bigger than two weeks ago and he now has a visible cyst in the left kidney. This was not too surprising to me though. My hope is at some point the kidney growth levels off. My MFM was not very optimistic with the prognosis at this point.
In my heart, I felt like he will be coming home with us and will just be a little mini-me of Jon! I am hopeful Sticky is our miracle!!
March 22nd - Appointment with Pediatric Nephrologist
Overall, she was nice and helpful. A few of the highlights:
1) She thinks Jon most likely has ADPKD.
2) She thinks the baby most likely has Glomerulocystic kidney disease (GCKD) which is a variant of ADPKD that shows up early. Ah, something new to research ;-)
3) She agrees that the best next step is having Jon tested for ADPKD
4) She also said it is important to have a micro-array to test for deletions (We have this test in progress).
She said that the prognosis for the baby depends a lot on how big his kidneys grow and if he stops producing urine. She did say it can be variable. She has treated one 14 year old boy who had cystic kidneys in utero and he is still asymptomatic. But, she has treated babies who die shortly after birth. All we can do is wait and hope for the best. She did admit that it isn't good that our baby's symptoms are showing up so early. She suspects his kidneys to be "huge" when he is born. However, I talked to her about options after birth and was happy with what she said. I feel comfortable with her and her team and that they will do everything they can (within reason) to help Sticky. For now waiting, praying, hoping, waiting, and praying some more!
March 30th - Sticky's Ultrasound
Well there was good news and bad news today.
1) Sticky is still peeing!! Yay! The fluid is normal.
2) While his kidneys are big the doctor said at this point his lungs are not compromised!
3) His growth is on track.
1) His neck is really thick and this was unsettling. I have been cleared for Down Sydnrome, but apparently there are other chromosomal issues. Fortunately I'm getting a microarray, so hopefully that will give us some answers.
2) There was something concerning about his heart. Not sure what. He had a 168 bpm, but I was scheduled for a fetal echo that afternoon.
3) He appeared to have edema? Water between his skin and skull?? Not quite sure. The doctor said that they see these resolve themselves, but in conjunction with the other issues they want more information.
March 30th - Unexpected ECHO
The echo went well. His heart is working beautifully! Right now there is a trivial amount of fluid around the heart. He also has fluid in his abdomen and under his skin (hence the thick neck). The cardiologist assumes this is related to the kidney issue (i.e. not a chromosomal issue on top of the ADPKD). This is was very comforting to me! Obviously, it is still unsettling that he has the fluid where he should not, but hopefully it will not increase. I'm going back in two weeks for another echo to monitor. So I guess I'll be adding "no more fluid around the heart" to our "pee baby pee" prayers!
One good thing about these zillion appointments is that I have SO many pictures of Sticky! He sure is cute. Today he gave us a thumbs up! I took that to mean "Don't worry mom...I'll be OK!"