Friday, March 22, 2013

3 month update (Apert Syndrome)

It's amazing how much you learn in such a short period of time! I look back at my first post of the birth of my first grandchild and how scared, shocked and sad we initially were. I was ignorant of much of what Apert Syndrome involved and wasn't sure where to turn. When I looked deeper, I found SO MANY other knowledgeable, caring, and empathetic people who were parents of, cared for someone with or were themselves people who had Apert Syndrome. While I still occasionally feel sad, I look to the other incredibly nice people who've already walked down the same road we've been led down. So many others have incredibly useful and interesting blogs and I love that Facebook can bring so many people from around the world together who have common interests and concerns. I have also learned that Olivia is very blessed to have few issues compared to many other kiddos in the same boat who are so much more developmentally and physically different/delayed. She is very blessed! She's now tracking as people walk around her and is starting to 'coo' and communicate. I love her personality and she's such a doll! She's now up to 8.8 pounds. Who knew that she'd get so much use out of newborn sized diapers!

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Here's where we stand now:

Olivia is almost 3 months old! We've met with a craniofacial surgeon who has a team who will treat Olivia when the time comes. He discussed her condition and gave us a timeline of probably surgeries in the upcoming months/years. I had read a lot of information beforehand so it wasn't a total surprise but, for me, it was reassuring. For my daughter, she didn't really think about it in advance and was a little disappointed. I think she hoped that he'd say her daughter was a mild case and would have some miracle cure or that'd she have fewer surgeries. I loved his philosophy of fewer surgeries and to initially tackle her gastric issues and do the sleep study.

She doesn't have the cleft pallet as we were initially told. Her pallet is extremely shallow but she does have a double uvula. He discussed her bone structure of her head and how it's fused. She'll have two or three cranio vault surgeries as needed to allow her brain to grow in her skull as the bones are fused and it can't stretch and expand as a child's brain grows. Her midface bones are fused too and the floor of her nose is high which makes it difficult for her to breathe. She uses her abdominal muscles to breathe instead of her nose which explains so much of her gastric and reflux issues. Those muscles work harder to breathe and sometimes forces food etc to come up. Her reflux meds help a lot but she still has a lot of pain each day. Because she has issues breathing, she'll need a sleep study so determine whether she's getting enough oxygen at night. Many developmental delays occur when there's not enough oxygen so we're checking that out now (should get the date for her study this week.) Also, her windpipe is in the shape of an 'o' as opposed to typical kiddos whose windpipes are in the shape of a 'c.'

About 30% of Apert kiddos develop a chiari malformation where the brain kinda slides into the spinal column. That sounded scary when the doctor mentioned it especially when we already know of some type of abnormality in her cerebellum in that area. But he also added that it might not have to be treated even if she got it (fingers are crossed.) She won't need an MRI until later and even if she's missing certain areas in her brain, the brain is powerful and can often overcome some issues. That is something to put off until much later.

Her feet are probably clubbed so we are also getting a referral to a pediatric orthopedic to check on that.

The surgery timeline is as follows (subject to change, of course) At 6 months, he'll check her skull/growth and determine whether some of the initial surgeries might need to be switched (ex: head first then fingers/toes.)

9 months - fingers/toes (separating them), probably ear tubes as well
12 months - fingers/toes (separating the ones not separated during the first surgery)
15 months - cranio vault surgery (head)
Between 5 and 9 years - another cranio vault surgery
Between 7 and 9 years - midface (where you pull the midface bones forward which helps with eyes, nose, breathing etc.) This one will require her to wear a halo on her head to pull them forward for a couple of months and it also reduces the look of an 'apert' kiddo.
older - hand surgery to put bends in fingers (her fingers are fused straight and even when separated, they'll still be straight. This surgery makes them more useful and they'll look like a typical hand looks in a resting position.)
after teenager - another cranio vault surgery and possibly jaw surgery (since many jaws might not match well)

The surgeon wants fewer operations so if something needs to be done, it's preferable to get the team together to do more than one thing at a time to reduce the number of operations/going under and is also less expensive.

Some things we didn't know:

Her hearing will be a little diminished (eustachian tubes don't open as easily)
Her walking may be a little slower (the tibia is attached to the ankle a little on the inside)
Her eyes are sometimes a little wonky because she's missing an eye muscle (has 5 out of 6)
Her watery eyes are just fine (they are lubricating extra because her eyes will be bulgy until she has her midface expansion.)
Her chances of having ADHD are increased even more (probably moreso since we already have it in our family.)
Teeth take a long time coming in and also a long time falling out (the bone is so dense.)
She'll get more sleep apnea as she gets older.

All in all, it's amazing how vastly different all this is a few months later. I don't feel as alone anymore after meeting so many friends and acquaintances online and this journey is not as frightening as I initially thought when there is that common bond of sharing Apert Syndrome.

This is a pic I took at one of Olivia's appointment's last week with her mom (my daughter) holding her.
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Þorgerður said...

I am glad you are all hanging in there and feeling strong ...that is a sweet picture... Plans are good :)

Floortime Lite Mama said...

Your daughter and granddaughter are lovely
Much love and many hugs

Anonymous said...

love and prayers for all of you.