Genetics

Elijah had an appointment with his genetics doctor this morning. Again, we have confirmation that we have the most wonderful doctors on planet Earth. She, like the rest of his doctors, is amazing with our little boy. She performed a basic exam on him, checking reflexes, listening to his heart, feeling around on his body a bit, weighing, measuring. She noted the main anomalies Elijah was born with: a solitary kidney, a heart defect, hypospadias, a sacral dimple. She noted a few other, smaller things: small ear canals, a funny toe, a large head, short limbs, gross motor delays, speech delays.

She said that looking at him, he looks 100% normal to her. Sometimes she can recognize facial features that would indicate a specific genetic disorder, but she can't see anything obvious when she looks at his beautiful little face. She said, "He looks just like you, except with a big head!" :)

At this point, we don't know if all of these weird big things and weird little things have a genetic explanation or if they are all just a fluke. The testing that was done two years ago came back completely normal. Now the resolution of the tests is better than it was back then, so she wants to run them again to be sure the results were accurate.

She also wants Elijah to see a pediatric neurologist. He has very low muscle tone (hence the delayed gross motor) and it would be good to rule out any brain abnormalities as a cause for it. The neurologist may want to do an MRI of his head, so that may be in his future.

After we see the neurologist and after the results of the genetic screening come back (it takes 8 weeks to get results), we will go back to the genetics doctor and go from there!

Elijah had a tough time with the appointment, and of course with the blood draw that followed. They did nothing that hurt him while in the doctor's office and he was just a mess. His little face looked so scared. Even while the nurse was sitting and talking to us, he had his arms wrapped around my neck super tight. Every once in a while he looked up at me and gave me a PLEASE MAMA, NO! look.

By the time we left there I was swallowing back tears. If a harmless exam got him that worked up, I knew the blood draw would be bad. I sat him down in the waiting room and said, "Elijah, you're going to have to get a little poke now. It might hurt a little bit, but it will be quick, and I'll be with you." He understood at least the gist of what I had said because his lower lip came out and he let out a quiet little sad cry, then he gave me a hug.

Fear and anxiety were all over his face. I started thinking, is it better to save some of the anxiety and just spring pain on him? Or is it better to put it out there and tell him what's coming? My gut tells me to be honest about it, because that way he can always trust me to tell him if something is or isn't going to cause him pain. After seeing his little worried face, though, I just felt so sad for the fear he was feeling. I sat with him in the waiting room and I said a little prayer in my head. I prayed that the blood draw would go as well as a blood draw could go.

I heard his name being called and I looked up to see the lab guy who has always had great success with drawing blood from Elijah in the past. We have had some pretty bad blood drawing experiences, but both times we had this guy, he did a great job. I almost hugged him! He was like an angel standing there in front of me. I remembered that his name was Dan, so I said, "OH DAN!" Luckily he remembered us from previous hospital visits, so he knew I wasn't a total fruity lady. He did a really good job with Elijah. He got a vein on the first try (!!) and it didn't take long at all. Of course, Elijah wasn't having any fun, but my prayer was answered. It went as well as it could possibly have gone. THANK YOU, GOD!

So, overall a good appointment, minus some emotional trauma. Looks like we're a step closer to getting genetic answers, if there are genetic answers to get. Thanks for the prayers! xo