In early December a call came from Dr. Arch, the geneticist who's been working with Ashton since he was born. She had the results back from the last test they had sent to Boston to specifically test for Branchio-Oculo-Facial Syndrome (BOFS). It was positive. I was a bit shocked, because I hadn't expected to hear anything back for a couple more weeks, and I definitely didn't expect to hear that Ashton had the syndrome. Dr. Arch, after telling me the news, then asked to talk to Kirk (she was graciously giving me a chance to go cry by myself haha), and they made an appointment for us to go talk to her about everything. That whole day pretty much sucked. Every time I looked at Ashton I would tear up. I didn't feel differently about him at all--he's still my perfect little boy--but looking at him made me think of all of the possible trials he'll have in his life, and how some of my dreams for him might not come true.
For those of you who don't know what BOFS is (don't worry, most people don't), it's a very rare genetic disorder, that is pretty new (in terms of research). In fact, since 2004, there have literally only been a handful of reported cases--and so you can imagine the amount of information available for parents (or anyone). It's a little overwhelming and frustrating at times because there really are no answers as to how he will develop, what his challenges may be, etc. But we're just taking it one day at a time and not worrying too much about the future. Basically, we will just have to watch him and see how he grows and develops, and then address any problems we find along the way. But as of right now, it looks like most of his problems are just physical and can easily be fixed within a few years. Another thing about BOFS is that it's caused by a mutated gene, and that gene is the one in charge of neck, ear, and eye development--and it's almost always inherited from the father. So Kirk is going to be tested for the syndrome, and if it comes back positive, then Dr. Arch suggested using PGD (pre-implantation genetic diagnosis) and In-vitro for future kids. Basically they locate the mutated gene and take it out before implanting, so it eliminates the possibility of the syndrome. Ashton, though his symptoms are *technically* "severe", really does have mild problems. People with BOFS are often born with extra fingers, ears, etc., and so Kirk and I feel that there's no need to make a child suffer through that when we can prevent it from happening.
Now I'll go back to happy words :) Christmas was a lot of fun. We were able to spend time with both Kirk's family and mine, and Ashton got to babble a bit to KC (Kirk's brother who is serving a mission), who's never met him. Ashton was pretty spoiled...he got a lot of presents! Only downside was the poor thing had a cold, and he'd had his nose suctioned out twice.
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| grandma esplin thought it would be funny to give ashton some coke ;) don't worry, he didn't drink any :) |
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| yes we made gingerbread houses :) and kirk insisted he make his from scratch--the rest of us just used cardboard haha check out ashton's super cute outfit! the hat is from aunt kenzie and the clothes from aunt denise :) |
I'll just give a quick update on his current medical, um, stuff. He will soon be seeing a pediatric ophthalmologist for his goopy eyes, and, oh, surprise! He does have mixed hearing loss, but it's mild. And he will hopefully be getting a BAHA (bone-anchored hearing aid)soon. The good news is that most of his hearing loss is conductive, which means that the sound is just not able to reach his inner ear, and that could be caused from his ear canals being too small, or fluid in the ears, or a part of his middle ear could be a little deformed. Whatever the problem is, it can probably be fixed. And that just leaves him with a little sensorineural hearing loss, which can't be fixed because the nerves are damaged. More good news...he can hear a lot of sounds even with the loss he has right now. He just can't hear sounds like "s", "f", "sh", "th", "h"--pretty much anything that's soft or that you can't say any louder ("s" only really has one volume). He probably won't be able to get the conductive loss fixed until he is a little older (probably four or five years max, but most likely a lot sooner), since they need to wait until his canals get a little bigger to even take a look inside his ears. So until then, he'll need to wear the hearing aid since language development at this age is crucial, and the aid can prevent him from having problems with speaking/hearing in the future. So don't think we're trying to create a gender identity crisis if you see Ashton wearing a headband :) The BAHA isn't a traditional hearing aid--it has to be worn on the head.
Somewhere between Christmas and now (I swear it happened overnight), Ashton turned into a different baby. Not a bad different...he's just growing up and entering the playful/interactive stage :) So fun!! He is constantly babbling, smiling (a huge, adorable, toothless grin), and making the funniest faces. He also talks in his sleep (just like his daddy). Ashton is a very happy baby (unless he's teething--he started a couple weeks ago), and always has me laughing at his cute baby sounds and funny faces. His eyes are starting to turn a beautiful brown/green, and he's getting pretty chubby :) Ashton loves to be held, absolutely loves to look around at everything except whoever's holding him (little punk), and he loves getting dressed after his baths. That's seriously when he's happiest and the most active.
Ashton is a special little boy, and he just makes everyone so happy when they're around him. I am SO lucky and blessed to be his mom, and my life is infinitely better because he's in it. I love my family! :)
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