The doctor that she saw is also a pediatric cardiologist, so this doctor had seen Claire in the NICU before. So she was somewhat familiar with Claire and her situation. Which was very nice! Dr. Rachel recommended we see her and got us set up with an appointment!
The geneticist came in and said she had reviewed all of the information that I sent her from the pathologist in Seattle about the ABM, PMD, HMH, and BWS (see previous very long post!). She suggested that since Claire has 2 birth defects that we not just focus on that situation, but get an overall look at Claire genetically. Which I think is a great idea and wonder why this hasn't been suggested before.... Anyways, the doctor asked us lots of family history questions but said our family was pretty healthy, so no red flags there. She measured everything on Claire to get numbers to compare to see if anything stood out. She measured her fingers, feet, ears, eyes, bridge of her nose, etc. The only things that somewhat stood out to her were her eyes, nose, ear, and feet.
Not sure if you have noticed, but you can see creases under Claire's eyes. Also in the inside corner of her eyes, you cannot see those pink circle things (I have no idea what they are called). It's like she has a fold of skin that goes into the corner of her eyes that covers it (kind of like an Asian person's eyes, although there are no Asian people in either family). This doesn't really MEAN anything, but it could. She also mentioned that the bridge of Claire's nose is wide. Well, she gets her nose from her Daddy and Grandma Neat Neat and if you look at the bridge of their noses, they are wide. So no big deal there. In Claire's left ear, she's always had an "extra" fold or line. I am not sure how to describe what I am talking about. I will have to try to take a picture of it and post it later. The doctor didn't seem too concerned about that either.
After plotting all of their numbers, the only thing she noticed was that Claire has small feet. Well if you ask Claire's Grandma Neat Neat, her great aunts on Grandma's side, Great Mimi, and Aunt Sarah, then that's nothing new for this family! They all wear like size 4 or 5 adult shoes! Tiny feet run in Claire's family.
So really the geneticist didn't see anything really that stood out as a specific syndrome or anything which is good. She said Claire was developmentally appropriate and looked "beautiful"! So they drew blood from Claire and I and will draw blood from Trent in a few weeks. Claire's blood will be sent off for chromosomal testing. It should give them a broad overview as to if there are any differentials in her chromosomes and where to look further. They will extract DNA from my blood and Trent's blood to run molecular testing for the ABM once they get in touch with the Seattle doctor to see what he wants to do.
It was also a great thing that we were seen early and before Claire's next surgery. While the surgeon is in doing the liver surgery, she can take out any tissues that need to be extracted for study while she's in there and Claire will not have to have another procedure. Yay! God works in mysterious ways.
So after mentioning the liver surgery, we still haven't heard back from the liver surgeon on the plan or surgery date. We were hoping to hear from them last week. So I am keeping my fingers crossed for a call today! I am sure with the Easter holiday, it could have caused some delay. So fingers crossed......
We did have to make the famous stop at the ABC Store in Dover last night. It was late when we were headed home and past Claire's bed time, so she was just exhausted. After about 10 minutes of getting some fresh air and looking at the sunset in the wheat field behind the ABC Store, she was good to go. Along with me being silly and distracting her the rest of the way home! Aunt Amanda and Grandma Neat Neat went along for the ride yesterday and we are so thankful. It takes at least 2-3 adults to go to these appointments. One to talk to the doctors and answer all of their questions, one to hold and occupy Claire, and one to take notes. It's definitely a team effort!
So we didn't get any answers yesterday, but we did get started looking into answers. We many never get all of the answers but it's so worth the time and effort to make sure we find out everything we can to help Claire. If some of these things are genetic, the information may also help my brother and sisters when they decide to start their families. Can you imagine them having to answer the doctor's long list of family history questions?!?! Amanda said she will just need a print out to take with her! hahahaha
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| "Mooooom! It is so uncool for you to have the same Scooby Doo bandaid as me!" |
Love,
The Scott Family
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