Genetics - Week 5

I have gone to write this post four times now. We had to do an x-ray series of Nolan's bones at CHOA. It was by far the hardest thing we have had to do yet. We hate reliving those moments, so it has taken a while to be able to write this post. I hope no one ever has to experience what we did that day.

Initially, genetics was an appointment that we wouldn't make until Nolan was around six months. We were told there was no need to rush into it but eventually we would want to meet with a geneticist to go over all things, Nolan.

As we continued to uncover more and more things about our son our pediatrician and cardiologist recommended we try to see genetics as soon as we could. They wanted to see if a geneticist thought that Nolan's "issues" were part of a more significant syndrome.

I was given a handwritten referral to Emory Genetics from our pediatrician. When I called to make the appointment I was connected to the direct line of a supervisor, Tim. He asked why I was calling and then told me to call the main number to make an appointment. Before hanging up, I asked him how long it typically took to make an appointment. He told me it could be up to two-months!!! I was shocked. I told him I hated to hear that because my baby was five weeks old and we were looking for answers. I thanked him and we hung up.

When I called the main line to make an appointment I was told I needed to wait until they received a referral from our doctor and then they would call me to schedule. Later that afternoon I got a call from a scheduler to see if we could come in the next day. Apparently, her supervisor (Tim) told her to get us the first available appointment. Thank you, Tim!

That night we were anxious to get to the appointment the next day.

We were ready for some answers.

We met with a geneticist Dr. S. She was patient, kind, direct, and so knowledgeable. We went over everything we had done so far, and everything we had discovered with Nolan. She wanted to make sure that she had a full overview of all of his systems to ensure a proper diagnosis.

At this point, she was letting us know she thought Nolan might have Goldenhar Syndrome. This is a syndrome that can vary greatly in deformities and overall symptoms, but so far Nolan was meeting some of the criteria. The good news, the bad news, and the confusing news about Goldenhar is that the syndrome itself if a fluke syndrome that is not related to genetics.

Systems that had been checked:

Heart - Done!

Kidneys - Done!

ENT - Scheduled.

She recommended that we do we a skeletal survey to confirm that all of his bones developed correctly. With Goldenhar syndrome some bones can be underdeveloped, and parts of the spine can have misshapen vertebrae. She also suggested that we take Nolan for a brain ultrasound. This would be the last organ to be checked, and it would give us a full view of his tiny body.

Lastly, she wanted to get a blood sample so they would be able to do full chromosome testing to see if there was anything else that we did not see that could be related to genetics.

The skeletal survey and blood-work could be done across the street from Emory at CHOA.

We packed up our stuff and walked across the street to start these tests.

First was the blood-work. We checked-in and began waiting. We were called back thinking that he was only going to have his foot pricked for these tests. We were wrong. They had to take 3 vials of blood. It didn't seem possible for all of that blood to come out of such a tiny little guy. Joel and I both held him while she got what she needed. He was so upset and we felt so helpless while we helped hold him down until she finished.

I scooped him up as fast as I could, and we headed to radiology for the skeletal survey.

We were called back and started following two technicians down a long hallway. As they walked, they asked us if we knew how the skeletal survey was completed? We said no. They explained.

Skeletal Survey

• It is a series of 21 x-rays that will show every bone in the body

• He must remain still during each x-ray, or they will have to take it again

• We would be assisting them in helping to hold him down

• Our bodies could not be in any of the photos so we would have to use sponges to push against him instead of our hands

• He had to be undressed (and the room was FREEZING)

• They start at the head and work to the feet

We laid him on the cold table, and he began to scream. I held his head still with two sponges wrapped in hairnets. Joel held his legs. A tech held his arm. I couldn't believe what was happening to our baby. I cried with him.

"He moved.. we have to reset" - We heard this a total of 7 times. The new image count was 28.

We had to take three breaks to get it completed. He would cry so hard we would have to blow in his face for him to be able to catch his breath. It was awful.

When we were finally done Joel and I grabbed Nolan and headed out as fast as we could. I remember getting to the hallway outside of the radiology wing and stopping for Joel and I to catch our breath.

We walked to the car silently.

That night we got home and all went to bed early. We were all exhausted.

We couldn't rest too long; we had to be up and out the door by 10:00 am the next morning for a weight check appointment with our pediatrician.