Oliver is 6 months!

I can't believe it's been 6 months already.  I feel it has gone by pretty fast.  Oliver is such a good baby and is doing so well.  He has been hitting all his milestones and is right on track for development.  He has been rolling over front to back and back to front for a couple months, he scoots backwards and in circles.  He has started rocking on his hands and knees and then gets up on his toes and bounces back to his knees.  He coos and tries to talk.  He is so smily and happy.  We just love him!

We didn't have any new information until yesterday when we were finally able to meet with the geneticist, Dr. Dugan, up at Primary Children's.   The genetic counselor first came in and went over all of our family history and extended family and asked lots of questions.  She left and came back with the geneticist.  We had brought up the idea of Oliver maybe having Goldenhar syndrome, but she told us that they don't really know what Goldenhar is.  There is no test and no explanation of why it happens and people are usually diagnosed when they have a lot of the symptoms and no other diagnosis.  She said one of the main features of Goldenhar is hemifacial microsomia where one side of your face like your jawbone is smaller, and Oliver doesn't have that.  She said I wouldn't give up so quickly and call it that.  She said that Janice (the genetic counselor) suggested it might be Frontonasal dysplasia, because of his features.  They mentioned some of the features and pointed them out in Oliver.  When I got home I looked it up and here is a description of it below from this website http://ghr.nlm.nih.gov/condition/frontonasal-dysplasia:

Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.

Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability.

When she mentioned these symptoms it did seem more likely than Goldenhar.  With Goldenhar it usually affects one side of your face, which we thought was the case with Oliver on his left side, but she pointed our that it wasn't just one side.  On his right ear there is a little raised part that looks like a skin tag was trying to form.  It isn't noticeable to others though if you weren't looking for it.  We thought that maybe the encephalocele was pushing down on his left eye socket causing it to spread, but both of his eyes droop down on the sides, which the craniofacial surgeon had pointed out before.  Also his nose does have the cleft on the left side, but the right side is kind of spread.  She also mentioned the corpus callosum and how the surgeons said his was smaller from looking at the MRI, so some of it was missing.  The MRI also showed that he had a lypoma (fatty tissue) in his brain, but I didn't realize that the lypoma was located in his corpus callosum, but she mentioned that's where it was and that lypoma in the corpus callosum was also linked with Frontonasal dysplasia.  She said it is possible that the lypoma is pushing aside the corpus callosum making it appear smaller, but it could all be there.  She said to take that with a grain of salt, because you really can't tell.  She said maybe delays or learning disabilities associated with that wouldn't be manifest until he was around 6 if any.

Frontonasal dysplasia happens when there is a gene mutation in at least one of 4 particular genes.  I probably won't explain this very well, but the website above that I linked to talks more about the gene mutation part.  There is a genetic test for it though.  We are going to have Oliver tested for it the same day he goes in for his big surgery on Jan. 20th.  We briefly talked about wether it ran in the family or not and the chance of us having another child with it.  She said we would start by having Oliver tested first and if he had it then we could discuss having us tested also.  It could run in the family, but it could be a new gene mutation only occurring in Oliver.  From what I read it sounds like it occurs more randomly and not as common running in families.  A couple websites also mentioned that it is rare with only 100 cases reported.  I think maybe that is for more extreme cases.  I'm not really sure.  As I was reading more about it online I came across these two articles where they did amazing surgeries for two babies at Boston's Children's hospital who had Frontonasal dysplasia, but theirs were a lot more severe.  They are two stories that will make you cry.  You can also see the zigzag scar across their heads that Oliver will have too.

https://www.bostonglobe.com/metro/2013/01/28/family-agonizing-trail-leads-infant-rare-surgery-children-hospital/WEmUG3hQ3ghz8rKdPMBfhN/story.html

http://www.techtimes.com/articles/45092/20150409/3d-printing-and-surgery-give-2-year-old-girl-with-rare-frontonasal-dysplasia-disorder-a-new-face-video.htm

Their surgeries were more severe, but there are similar risks.  In the first surgery they said it went well, but in the days following the baby Dominic had seizures, developed fungal meningitis, and suffered respiratory and feeding problems and was in intensive care for 3 weeks.  I've felt good about the surgeons we are using at Primary Children's but then when I read online about craniofacial surgeries they always talk about Boston, Dallas, and San Diego.  Then I start thinking should we be going there for these top surgeons?  Our neurosurgeon is Dr. Kestle and our cranifacial plastic surgeon is Dr. Siddiqi.  They will perform the surgery together and I've heard great things about them, and I've liked them when we've met together.  Just yesterday the geneticist counselor was saying that Dr. Siddiqi is a great craniofacial plastic surgeon and that's who she would want operating on her child.  I want Oliver to look and feel normal and sometimes I see these before and after pictures online and they don't look as good as I would want them to look, but people keep reassuring me that our technology is great and he will look normal.  Of course my main concern is not cosmetic, and more his health and brain, but I still worry.  I'm worried about the placement of his eyes and just not looking quite right.

Oliver's surgery is only 13 days away, and he has been sick with a bad cold.  I need him to be strong for such a procedure and so I think I'm going to have to be homebound for the next 2 weeks so he can get over his sickness and hopefully not catch anything else.  I know many people have expressed that they want to fast and pray with us, so I will post again right before his surgery when we will be fasting and other details.