Genetics Testing: What we learned today.

We learned so much today! First of all, we learned that when we think Brycen will be at his worst, he tends to usually be at his best. I'm thinking if I just wake up thinking this every day, we should have some perfect days from now on:)
We left bright and early this morning to travel to Cedar Rapids for our appointment with the Genetics Clinic. The Clinic is actually part of U of I, but the doctors travel to multiple locations across the state throughout the month. We initially looked into this back in June of last year and we were put on a waiting list for multiple locations. When we were moved closer to U of I in the fall, I called back to check on our status and report our address and number changes. At that time, they informed me they had an opening for today in Cedar Rapids which is about an hour and 15 minutes from us so of course I took it.
Neither of us really knew what the appointment would consist of though we did know obviously lab work would happen. The nurses and doctors were SO NICE!! We had always been impressed with U of I, but today it was really phenomenal how comfortable we felt. Of course, we reviewed the happenings of the pregnancy, birth, parent and siblings health, developmental level, etc. The doctors were so thorough with their questions and gave us every explanation we asked for. I can't even count how many times they stopped to ask us if we had any questions so far!! A physical exam was completed by both physicians which consisted of measuring various body parts like his ears and how his eyes are set, feeling for any abnormalities on his head and in his legs, arms, hands, and feet. An ultra-violet light was used to go over his skin for any abnormalities that cannot be seen by the naked eye. Then of course there was blood work, which was a little stressful but not too bad! Brycen squirmed, screamed, drooled, cried...as once they poked him, they couldn't find a vein and instead of wanting to poke him again, she just moved the needle around a little until she found one which took a few minutes. Once the blood started flowing, he calmed down and just watched it while still crying a little. He calmed down immediately once we got out of the chair, and wore his bandage with honor!
Results will be available in about a month and that will decide what the next step is. If nothing is found in "Tier 1" as they called it, we could move into "Tier 2." If a chromosome abnormality is found, then it depends on what it is for the next step. They gave us a few examples and said that the testing they do today was not even being done 5 years ago because research has come so far just in that time! We discussed possibility of future EEGs and MRI's, as well as ultrasounds for certain parts of the body for certain genetic conditions depending on the results. Of course, the risk of sedating Brycen for some of these "Tier 2" tests may not be worth it right now, so we will be deciding that when the time comes. The other part to accept is there is a good chance that they will find nothing genetic, and at that point we just ruled things out and will then realize it is an unknown trigger that caused him to regress.
I'll be sure to update you when we get the results and what the plan is. I just really want everybody to know how very brave Brycen was and how he tolerated so much of the exam sitting in the chair on his own. Only once during the entire exam did he attempt to leave the room...otherwise, he just took over the doctor's stethoscope and measuring tape and kept himself occupied with those. We are so proud of him and how strong he was through all of that! Nobody likes to be poked and prodded, undressed and looked completely over...much less a child that has difficult with personal space, touch, and lack of understanding why this is all going on. We love you Brycen!!