Appointment

Ella had her last scheduled appointment at Children's Mercy. This appointment was with genetics. I just hate the word genetics. Whenever I hear it, it makes my palms sweat! This was something I just never felt comfortable discussing. I feel like I have been fairly open when discussing everything else, but this area. When she was at Stormont, she had some signs and symptoms that made the doctors concerned. When she was transferred, Stormont had requested that the genetics doctors visit with Ella. Come to find out, whenever a child has a congenital heart defect, it is standard to have genetics take a look anyways. Of COURSE, they ran some tests. We had already had a chromosome test and micro array chromosome test completed while in Stormont. Both came back normal! That made us a bit ahead of the game at Children's so they went ahead and ran a few more tests and scans. The first full day in Children's, they gave us a complete list of tests and so on and so forth. Then my mom and I (Wyatt was with the boys) tried to process this info and then went to the Ronald McDonald house where I tried to shut my mind off. We were at the smaller RMH and they had a LOT of memorials on the wall which caused an extreme emotional breakdown. My mom and I PROMPTLY left the room and frantically found a plan b. We wasted several hours at Target and IHOP and talked about what we thought the findings of the genetic testing would be. We then headed back as it was now VERY late, went to bed, got up, packed up our stuff and checked out!
A few days went by and the first test came back. NEGATIVE! WHEW!! This was a relief. Days went by and more tests came back and more negatives. Then they thought that we should test for something else. By this time all the neonatalogists felt that the genetics doctors were just digging for something else. I agreed!! I told them that I felt like they were a pest I could not get rid of! By the time it came for discharge, the genetic counselor came up to talked to me. She basically said that at this point, there was nothing else that they think that they need to do. YAY!!! THEN she said that she wanted to take some pictures and would put it in our file so that the doctors can track her growth and development for our next appointment........WHAT!!!! I thought I was wrapping this up!!!
Lets  fast forward to March 26th. Wyatt and I loaded up and went to our appointment, which was called a "follow up." I completely analyzed this. We get there, the nurse asks us questions and leaves. Then Caitlin the genetics counselor asks us the same questions, plus a few more. She talked about how she remembers Ella, then says that she is going to get Dr. Saphina and will discuss with her then Dr. Saphina will come and look at Ella. It took FOREVER for the doctor to come back. I just knew that they were on the Internet trying to google something else to test because they ran out of other ideas.
Along comes Dr. Saphina. (She was very awkward, but doubt very good at her job.) She asks THE SAME questions and then checked Ella out. She kept commenting on things that she remembered about Ella, mainly how much better she looks and that she is no longer purple! I took this as, "your kid was very memorable due to all her symptoms and being so sick." I got this from the guy that did our Echo a few weeks ago and told me that he really remembers those patients that are really sick. Then proceeded to tell me how he remembered Ella. Not what every parent wants to hear!
I thought it was really interesting the things that Dr. Saphina remembered. i am sure they were in her file, but they were very minor things that she remembered!
After more chatting, Dr. Saphina told us what she thought. She said that there would be no more testing as Ella is doing great and looks great and there is nothing that makes her think she needs to continue, unless I felt that something has come up that concerns me. She said that she could see her in a year, but will leave it open ended, meaning if there are no concerns, then we do not have to worry about it. She felt Ella's issues are a genetic anomaly, meaning, there is an unknown reason as to why Ella had the issues she had, or why she had a Single Umbilical Artery. It could have been something like not enough blood flow to help her develop appropriately in the womb. Bottom line....Ella is PERFECT!!!
We have FINALLY succeeded in not having to deal with genetics ANY MORE.....until Ella is ready to have her own babies, then it is suggested she see a genetic counselor. But that is 40 years down the road......right!