As I'm an only child, I don't have much to be jealous about because, simply, I'm the only one anyone focuses on! On the same note, I spent my entire first year of life not realizing that I could be sharing my secrets with other angels. So, my mom thinks that I should share with everyone how my first year went and so long as she mentioned all the great night parties, I agreed...
Ashley's story (My mom thought she should tell this)Pregnancy - I swear she had eight legs! Being my first and only child thus far, I had no idea babies could be that brutal to ribs! When she finally came, everyone realized how wiggly she was and what she really was doing inside me!
Labor/delivery - Long (24 hours) and an ABGAR score of 9 (she had meconium). No issues noted at delivery (i.e. hypotonia). She was in the 50 percentile in all categories as she had been during pregnancy.
First 4 months - She was great at nursing, or so I thought, because she wanted to eat all the time. She would nurse for 45 minutes, sleep for 1 hour, wake up, and we did this cycle over and over! I now realize that the reason she would nurse for so long was probably the weakness in her sucking strength. She would tire out and could never get full enough to sleep for any substantial period. It was seriously the most difficult thing I've ever done. College, CPA, even working 5 years in public accounting hailed in comparison. I would not wish the sleep deprivation that we went through on anyone. Sleep has been our most difficult challenge of AS thus far (see below).
4 1/2 months - Discussed all of our issues at various points with our group of four pediatricians. I did not have any idea that there was something not right with Ashley, only that no sleep was occurring in our house, how she would wake up in a shrilling scream from sleep all night long (diagnosed in May as acid reflux), and she would have various rashes (now determined to be food allergies). I would complain that if she's not sleeping, I do not understand how she was expected to develop. They gave no merit to my concerns. They did suggest that we try giving her rice cereal, and she did start sleeping a lot better (4 hours straight at some point in 24-hr period). This also instigated Ashley's problems with constipation, which we still give her meds as necessary. I think this will resolve itself though as she becomes more mobile.
6 months - Christmas time. I am still clueless that Ashley is anything but typical. I did think it was odd that when we went shopping for Christmas presents, the ones I knew she would like were 0-6 month toys. I just dismissed it as toy manufacturers being out of touch. Ashley has always been so engaging - from very young, she would notice you the second you walked in a room, always smile and laugh at you when you talked to her, enjoyed story time, etc. She just preferred to do all of these activities on her back! She has rolled over a couple of times by now from her back to her stomach but nothing consistent. She sleeps in the exact same position all night on her back. I also mentioned this to doctors in passing but no response was ever given. She will sleep 4-6 hours in a row at night but likes to have at least one 3-4 hour parties at night and a couple of other awakenings. She prefers to sleep much more during they (2-4 hour nap in the afternoon). We tried limiting this but it did not change her nighttime habits.
7 months - I went back to work at 60% schedule and my mom, who is an R.N., watches Ashley for the three days. I'm sure she had figured something was different about Ashley at this point, but her engaging behavior was so deceiving to probably prevent my mom from really discussing it. I understand, she would have regretted bringing it up this soon if it turned out to be nothing.
8 months - She was still not sitting up on her own, we still cradled her head and back when we carried her, and this was the end of the time period given for kids to learn to sit up in our baby books. So, after my mom's subtle hints and grave realization that her gross motor delays could be indicative of something lifelong, I took her to another pediatrician for a second opinion. We were told she was hypotonic, had slight microcelphaly, and probably other things. She suggested we visit with a pediatric neurologist or geneticist to determine the cause for the delays. The next morning, I called and got an appointment with a geneticist that day who diagnosed Ashley on the spot. We sat there for an hour going through family history and questions and he could see the anticipation and fear in our expressions. He would respond with "Its okay, we're getting there." He later said that he knew from the time Ashley came in that she was an angel. This news was like staring straight into an oncoming train. I really think that he knew he was preserving the last hour of our "Pre-AS" life. I had never heard of AS, but my mom had worked with a couple AS kids before, so she immediately started crying. This is when Mark and I knew it was something serious. He got an old book out (mistake!) and gave us the genetic speech, lifelong dependent... I will never forget that day - March 16, 2006. They drew blood, and the FISH test came back March 21,2006 as deletion positive. The ironic thing was that she had an outfit on that said "Snow Angel" on her shirt - Mark and I went to sleep laughing about that and the fact that he will never have to worry about all the threats that he's had prepared for the boys that would one-day come around. I think back to this time as the end of the innocence. Not in a negative way necessarily, just that when she came out a healthy baby on July 1, 2005, we let the dreams run. We now realize you have to mourn that loss, and it doesn't happen in one day.
9 months - We started ECI and receive OT weekly. She is doing pretty well and just started rolling over consistently and purposefully.
10 months - Stream of doctor appointments - eye, neurologist, and ENT. We have noticed since a couple months old that her left eye wonders outward and we realize now that that is probably due to the hypotonia. They try patching it and conclude that she may need surgery at 2-3 years to correct if needed. We got an EEG at the neurologist and it concluded that she has typical AS brain activity. He suggests 1.0cc melatonin for sleep. S witch neurologist since this guy is terrible and not familiar with AS. We visit the ENT since Ashley has snored every day since birth. Due to weakened throat muscles and hopefully she will outgrow it. We just wanted confirmation that there were no physical obstructions causing lack of sleep.
11 months - Visit new neurologist, John Seals. Great doctor and identifies the screaming as a result of acid reflux. Makes perfect sense now, and, by this time, I'm ticked that the pediatricians haven't cued in on this. We visit a GI doctor and Ashley is put on prevacid. This, combined with melatonin, has really helped Ashley's sleep. She now sleeps ~6 hours in a row but still likes to have 2-3 hour parties at night. We went to the AS walk in Houston and got to meet Austin, a couple months older, and he has a wonderful family. His blog is given as a link. In previous months, we had visited other AS kids, which was much more difficult than meeting those at the walk. By 11 months old, Ashley is sitting pretty well on her own (maybe five minutes) and often chooses to lay down when she gets something good in her mouth. We also started her on 12.5 - 25.0 mg of trazodone, which has greatly improved her sleep. We are starting to feel like actual people again enjoying life. She has made numerous developmental achievements once she started sleeping!
12 months - Ashley, who turned one on July 1st, decided to stand up against the couch on July 14th!!! In therapy, we have her stand against the couch and reach for toys on the couch cushions. Mark had her standing there propping her butt up, and then he realized she wasn't using it! He removed his hands, and she just stood there, hand holding onto a toy on the couch, butt in, and both feet flat on the ground for about 30 seconds! He said he was going crazy behind her (silent of course not to disturb her!). We later had her stand in the middle of the room, holding one hand just for balance! Tears flooded down our faces!
Since her birthday, she has been standing a lot. We also just started private PT weekly so that has really helped. You just put her in position and she will stay there against a couch, toy, or leaning on you in some way. She's not inclined to take steps on her own and her legs still seem to drift outward after a while. She has just started holding the 4-point crawl position in the last few weeks, which we are so excited for! It looks like we will be baby-proofing the house soon. She has never consistently been around other kids her age so I think that has slowed her down a little bit in the gross motor skills area. We just started leaving her in the nursery during church and that has really helped her figure the stand/crawl positions out. We are always so sleep deprived that hanging out with my friends who have kids her age rarely happens. We are now making a more conscious effort to have such interactions.
She has always made a lot of noise although I wouldn't go as far as to call it "babble" like typical kids do. We'll be starting speech therapy soon. She will do some sound mimicking. She doesn't wave bye-bye nor roll a ball back and forth with you. She is great at getting whatever she wants, which is something I really fear with all of the communication difficulties. After her diagnosis, we feared that the screaming at night was due to seizures, but now that she's on prevacid, it seems that was all due to reflux. We have seen a couple mild seizures - eyes roll back in head one time and Mark has seen her do very rhythmic motions during sleep. We have discussed these with the neurologist but he is not concerned with these.
So, this is Ashley's summary for the first year. I know that being new to AS, this is the kind of info you want to know.
