Tired of Repeating Myself: Part 2

THE NICU
Knowing the history of the pregnancy, the doctors were mainly concerned with his heart. He ended up with quite the laundry list of “stuff” to be followed. None of it life threatening, just things that either need to be monitored or need a little surgical repair within the next 5 years. Here is the shortest explanation of the highlights:

They believe he has a syndrome called Beckwith Weidemann (BW). It is chromosome “deletion” and is very hard to diagnose with 100% certainty. They have sent out 2 different blood tests, one of which has a 1-2% chance of “for sure” diagnosis, the other is 10-20% chance. Basically, the best diagnosis is by physical characteristics; in Joshua’s case he has a larger tongue, umbilical hernia and heart defects. Developmentally and growth wise, he will be no different then his sisters. From what we understand he has a mild case as his tongue is larger, but he is already “handling” it and keeps it in his mouth more and more everyday. A lot of times they have such a large tongue they choke on it or asperate because of it, which he has never done. Babies w/BW often have issues maintaining blood sugars and have apnea problems, which he has NOT had at all. The umbilical hernia could close on its own by the time he is 5 years old. If it doesn’t, he can have a little surgery to repair it.

Kids with BW are also more likely to get tumors. 80% of kids DO NOT get tumors and all are closely monitored until they are 4 years old via bloodwork and ultrasounds. Joshua’s tumor marker in his blood was elevated last week, but they did an ultrasound and did not see anything. We meet with an oncologist at Fresno Children’s this week to establish a relationship and to be followed.

His heart has a bicuspid valve (nothing to be concerned about, he may need to take antibiotics prior to dentist appointments), he has a small VSD (aka, a hole in his heart for which he will be followed by cardiology. Most likely it will close on its own), and his PDA (connects to the aorta) has not closed yet. None of this warrants any immediate action. He sees cardiology in 6 months for follow up. The heart issues can be related to BW.

He has something called a hypospadias, which means his little pee hole is a bit off center. This condition is also not related to the BW. This will be repaired at some point within 18 months with surgery.

Finally, they had thought he had dilated arteries in his brain which can cause compression on the spinal cord. After an MRI, we found he does NOT have any dilation, but has Agenesis of the Corpus Callosum. That means he is missing the part that separates the two hemispheres of the brain. This could cause developmental delays, but also could mean nothing. Some adults have this condition and have no idea they do. Another wait and see type deal.

Oh yes, and when we went to the first pediatrician appointment he cried so hard a groin hernia popped out. Nothing like adding to the madness. He will be getting that repaired sooner than later. We’ll find out in a couple weeks when we meet the general surgeon.

Overall, we are seeing geneticists, oncology, cardiology, urology and general surgery. We are so thankful that none of this is life threatening. Considering what the first ultrasound showed when I was pregnant, we are just thankful he is here and overall a healthy boy!

On a side note, we were EXTREMELY blessed with amazing nurses in the NICU. They were all so sweet and caring. It would have been much harder to leave him for so long if I didn’t know the nurses. We are grateful for all of the time we were able to have with him while “camping” because it allowed us to get to know everyone and feel comfortable that they were going to spend the time to work with him and help him improve just like we were. We love our nurses!

MORE PICTURES

Hooked up in the NICU The kid had some HAIRY shoulders when he came out. A lot of the "fur" has already fallen out. Preemie-ness I guess. More wires =( This is how we hung out for a lot of days. Just me and him rocking.