OAV Syndrome

Back in November I met a mom on babycenter.com who happened to pop up on a board I help moderate and her son had the exact duplication Liam and I share. Given I have researched this area on the 18th chromosome for over 2 years and had NEVER found a report or matching family I was very interested in connecting with her. We have been in contact ever since, I wish we lived closer actually, I think we have so much in common it would be nice to be able to meet and chat in person. Frankly, the similarities we shared during a three hour phone conversation where amazing!  Anyhow, when I learned about her son helped my research to be more guided in a new direction and I am so thankful! Her son has something called Goldenhar Syndrome otherwise known as OAV syndrome. Goldenhar Syndrome is on the more serious side of OAV, and includes a large change to at least one ear (often times it is missing). But, OAV is a broad syndrome which can show very slight changes, sometimes just a small skin tag by the ear.  Usually there is know known cause for OAV; however, after finding our new friends online and researching....I believe in ours that there is a genetic link (the duplication on chromosome 18...if your reading this and lost you may want to refer back to my first blog post :-). With the duplication range and with the new information of OAV syndrome, I have researched three articles with other (particularly males) that match OAV syndrome and the duplication in the EXACT same range. Interestingly enough, our genetics doctor called last week and wants to meet with us in June again. Although Liam does not have any ear external ear changes (I do on my right ear but it is very slight), I have very specific questions for him. OAV syndrome has a high rate of abnormalities for ears, jaw, eye, heart, cervical spine, and kidney's I have some direct concerns for our genetics doctor. The first question I have regarding Liam's possible link to this syndrome is about renal function.  Thankfully the last time we went to genetics he had a bone scan, which is a set of x-rays to check on Liam's growth. This showed a Gallstone, which lead us to having an abdominal ultrasound and during that they also look over the kidneys. So, it is my hope that we may already be able to tell or "know" that his kidneys are of normal shape. My only hesitation with this is that the tech doing the ultrasound last time (we've actually had two) specifically asked if Liam had ever had any mid-line surgeries. I said "Yes, open heart surgery" and his response then was "but no bladder surgery?" ..... so I hope that wasn't a telling statement of sorts back in December, I guess I'll find out in June! Then I have one additional concern and that is if his vertebra in his neck are completely formed and not fused. OAV syndrome also heightens the chance of both of these things happening and since Liam still can not move his head up to the sky quite like we can I NEED this checked as well. I am wondering since he had the bone scan if anything was shown on it for this area as well.... it certainly would be nice to look at the x-rays from last July and just know the answer without any additional tests needed. I'm literally writing this blog to be able to print out and remind myself while I'm in the genetic's office what my concerns are and why I've linked them., but if you ever wonder what spins in my head about Liam's health and development now you know :-) And with that I've officially down loaded my mind so it can shut off about this stuff until June :-)