Partial Trisomy 16p+12-13.3
Cambree was born on March 25, 1999 in a small hospital with a 2-vessel umbilical cord and aspiration pneumonia. When she was 2 days old, she stopped breathing and was then transported to a larger hospital. Between the two hospitals, they attempted five times to put her on a ventilator without success. We then noticed that she had a strider when inhaling. (We are not sure if she was born with it, or if it happened as a result of trying to get her on the ventilator.) When in the RNICU, she was looked at by a geneticist who then came to the conclusion that her features came from either mom or dad. She didn't have too many "different" features other than the bridge of her nose was flat. Her eyes are also small, and as a baby it seemed like she was never awake. Whenever we take her places (i.e. the mall), people often comment that it looks like she is falling asleep. Also in the RNICU, we met up with an excellent doctor (a pulmonologist) secondary to the strider. At a visit to the pulmonologist (who is very good at checking everything) at five months of age, she commented that it looked like Cambree had low muscle tone in her legs. Her hips, knees and ankles are very hyper-mobile. She suggested we go back to the genetics clinic. We couldn't get in until Cambree was 8 months old. At 9 months, we found out she had extra material on her 16th chromosome, but we were still unsure of what it was. At 10 months, we finally got a diagnosis.
Cambree is developmentally delayed in all areas, although she is making very good progress. She rolled over on time but everything else was delayed. We started therapy services when she was twelve months old. At this time she was not completely sitting up on her own, not talking, and was having difficulty with fine motor skills. She also had some tactile defensiveness. She is now 20 months old. She is walking around furniture and has taken 1-2 steps on her own. She is able to self-feed without utensils but does not understand the concept of putting objects "in" or "on" something. She is babbling mama and baba and is able to point out several body parts as well as understand simple commands such as "no no" or "go down" (the steps). The tactile defensiveness is still present but has significantly decreased through therapy by using a technique called brushing. We are very encouraged by her progress.
If there is anyone out there who has information to share with us, we'd appreciate it. Our genetics clinic has not provided us with any information and we haven't come across a lot on the Internet either. So far everything has been a waiting game.
UPDATE APRIL 2002
Cambree is finishing out this school year in Early On (a program for 0-3 year olds), where she goes on Wednesday and Friday mornings and receives physical, occupational, and limited speech therapy. She also receives two speech therapy sessions per month at home. She is getting occupational therapy in a hospital setting 1x per week, and hopefully we will be starting up speech therapy again soon (she has recently stopped due to insurance problems, which have been cleared up). Cambree has made a lot of progress in the past 6 months, since the birth of her new brother (who thankfully, has no medical problems so far). She has responded very well to him and is very interested in what he does. Since he has begun babbling, her babbling has increased significantly. Her speech is still very delayed but she vocalizes every time we tell her to say something. She says a few words that we actually understand (mama, dada, baby, bama for grandma, papa for grandpa, and EEEEE for eat).
Her fine motor skills have also improved. She is able to put objects into a container now. We are working on self-feeding with utensils (she can do everything except load her spoon), stacking (she understands the concept but has poor coordination), self-dressing, and stair walking (she is able to do this on her own, but we don't quite trust her yet). Cambree has a very short attention span and doesn't like to be told what to do, but is great at activities that she initiates. It is hard to keep her attention in a group setting, although this is improving. Cambree is very orally driven. Everything goes in her mouth. She loves to chew on and play around with strings. She also likes to activate toys with her mouth, although this has improved. She continues to use a pacifier (We don't know how we are ever going to get this away from her).
Cambree is due to have eye surgery in May for extropia (opposite of being cross-eyed). This is affecting her depth perception so we are hoping to see improvement with her eye-hand coordination after the surgery. We have been very lucky because this will be her first major surgery. She has had a couple of sets of tubes in her ears, a couple of pH probes for reflux, three sleep studies for sleep apnea, and a couple of bronchoscopies, but nothing too major. Cambree will be attending preschool 5 days a week next year. We are choosing to send her 5 daysbecause we are hoping that keeping her on a strict schedule will also help her to act appropriately in group settings, and will help her to anticipate what is expected out of her every day.
- 3 mos: rolled stomach to back (she actually beat her brother)
- 4 mos: rolled back to stomach
- 13 mos: sat unassisted
- 15 mos: crawled (creeped)
- 27 mos: walked unassisted
She just turned three years old and is working on stair walking, self-feeding, and self-dressing. She is not yet potty trained. Cambree seems to understand a lot but has a difficult time expressing herself. She can follow some directions. We do think that she is cognitively delayed, but because she is not talking much, it is hard to tell exactly how delayed she is. One thing Cambree is now doing sometimes to try to express herself is head banging. It is very frustrating to us, and we can tell that when she does it she is frustrated too. She does it when she gets mad and when she wants something.
Reflux, Asthma, Tubes in ears (we still can not rule out mild hearing loss), Sleep Apnea (this has improved as her muscle tone has improved, although her muscle tone is still low). Eye surgery in about 6 weeks.
Cambree is very small for her age (weighs approximately 25 or 26 pounds). She has a very good appetite but is a very active child. She has never been much of a nap taker—she has not taken naps in 1+ years.