Hey all! So a few updates since the last time I checked in! First Celina had her follow up ophthalmology appointment (for the eyes) about a week ago. Im pleased to say its the firs appointment where I actually left smiling!! The colobomas are still obviously there and always will be but besides those her vision is right on track with her age! Her Doctor was pleasantly surprised! She wont be needing glasses in infancy for sure! Possibly when she reaches adolescence, but for now we're in the clear!! yaaay! He doesn't want to see us for another year!! Always good news! With all other specialists we never get a clear answer. Everything is always a waiting game. Her normal Pediatrician says that seems to be the trend with Celina. Her results are never "normal" but they're never bad or severe either so it ends up being a stressful waiting game as they monitor her. ugh. So needless to say it was nice to have a clear cut answer, and a good one at that!!
Regarding Celina's Scoliosis; Celina's PT was very shocked at when she heard what her doctor wanted to do. She said Celina's curve was significant and was expecting her to be braced. She suggested maybe seeing a new Ortho? We decided we would wait until Celina's follow up appointment and if we still don't feel satisfied we will look elsewhere. I did receive an appointment summery from the ortho that stated if her curve had progressed by next appointment we will discuss bracing, tho he feels optimistic for Celina's case.
CHARGE syndrome; I received a CHARGE syndrome management manual for parents from the CHARGE syndrome foundation. This Manual is probably my FAVORITE thing ever!!! Its very informative, kind of scary, but reassuring and comforting at the same time. This book has just about everything I could ask for!! It explains every aspect minor to major that I have questions about. Its split into categories for each and every condition a child with CHARGE could have including Infancy, adolescence, pre-teen and teen years, and adulthood. What to look out for, what to push doctors for, behaviors, Parents of and CHARGErs themselves sharing their stories, etc. Love this thing! I have it with me at all times lately.
Here's some interesting things I've learned:
-No CHARGE child is the exact same. they all have varying features in varying degrees of sevarity from mild to severe.
-The incidence of CHARGE at birth is 1 in 12,000 births
-High post op mortality rate
-Very high risk for aspiration
-30%-40% of children w/CHARGE do not survive 5 years
- This is usually due to major issues that Celina do not have, Usually kids with severe CHARGE
-Beyond early childhood mortality remains higher in those with CHARGE
- Risk of having another child is w/ CHARGE is low around 1-2% unless a parent carries the gene (rare) then recurring rate is 50%
-There is nothing that can be done to prevent CHARGE
-Cranial Nerve anomalies are very frequent
-Feeding and swallowing problems are common
-intelligence is routinely underestimated
-Frequently born missing the balance sense that come from the inner ear resulting in very delayed Gross motor development
-average age of walking is 3-4 years old
-prefer being flat on the ground or stable position due to balance issues
-also due to balance they may roll, combat crawl, bounce forward or backward, or 5 point crawl with their head touching the ground to get what/where they want/need
- frequent low muscle tone (hypotonia) resulting in scoliosis. Hypotonia usually due to the nervous system vs. the muscle themselves
-altered pain sensation. High thresholds for pain
-frequent diminished or absent sense of taste and/or smell
-some have significant learning disabilities
This is only a very small amount of things but you and can view more on the CHARGE syndrome foundation website and can even view the book yourself.
Therapy; Celina is doing extremely well! We had her 6 month IEP review and her OT said it was more of a celebration vs. a meeting because of how far miss Celina has come! She has started rolling around to get where she wants and a few weeks ago started getting up into the 5 point crawl position!!! She'll rock back and forth but has yet to move forward or backward in that position yet. She started putting support on her legs about 2 months ago, and her head control is almost completely resolved! Yaaay! At 10 months Celina is not yet sitting unsupported, but thats to be expected. :) Celina has also started (ive seen maybe 3-5 times) signing milk! Not when she wants it but as shes drinking her bottle she will make the sign. She also LOVES when anyone signs to her!To the point where it calms her if shes crying. Also if you stop before shes ready for you to stop she will cry lol. I've started signing either ABC's or the song "you are my sunshine" and they're turning out to be favorites. Lately as i'm signing to her she will hold up her hands and wiggle her fingers as if trying to mimic me. It seriously adorable! She will also when playing by herself hold her hands within her vision and move her fingers. I've learned this is deaf baby babble! Very exciting!
Past and upcoming appointments; So we had Celina's 9 month check up closer to when she was 10 months old. She's definitely a tiny little girl. Shes in the 8th percentile for height and 3rd for weight. Celina still wears 3-6 month clothes. BUT! shes perfectly healthy and has quite a bit of chunk on her adorable little legs. Growth is also a common issue in CHARGE. She keeps slipping lower and lower on the charts. Celina was also having some issues with eating baby food a while back. She was choking significantly no matter how thick or thin we made her purees. Research suggests this is actually due to a nerve in the brain in kids with CHARGE. But one day about 2 weeks ago I tried again and Celina did fantastic! She loooves her food now! were not trying anything solid yet due to her sitting and previous choking issues. And actually as a newborn she would constantly choke while drinking a bottle. Several people refused to feed her a bottle due to being to scared. As of now Celina still chokes on water, and unless her baby food is mixed a little thicker with cereal she will choke or not even know she has food in her mouth. Doctors aren't extremely worried because she is still growing. If she still has issues we will eventually do a swallow study.
Friday Celina has her tube replacement surgery. Its only a 5 min procedure but im extremely nervous. Especially after learning that kids with CHARGE have a higher mortality rate under anesthesia and heightens with each time. Then she will go under again on the 23rd for her CT-MRI. So 3 times under so far before the age of 1. They were unfortunately unable to schedule them together. I actually got the detailed call about her surgery today and suddenly got really scared when they asked about a DNR. I know its standard and they have to ask, but it makes you think about it when you've been trying so hard not to. Now I know we're lucky. Celinas form of CHARGE is mild and she doesn't have any extremely life threatening conditions that require many many surgeries that most other CHARGErs do. And I sometimes feel silly. But I then again I think any mother would be nervous. Then throw a medically fragile child into it and I feel less silly. But anyways..., I'll go ahead and wrap this up before it gets too horribly long or rambling lol. If you could please send positive thoughts or prayers for my princess on Friday I would really appreciate it! :)
Celina in her 5 point crawl position for the first time. This was a very exciting day!
