Thursday, March 8, 2012

Our Appointment

Yesterdays appointment with neurogenetics went fairly well. We started off rocky when the #@$&*@ pediatricians office didn't send the referral. Being that it takes month just to get a follow up appointment there I was LIVID.

We started with OT and they were a little surprised that she is still so hypotonic. They figured with all of her therapy and strength work she would have better muscle tone this year. They were comparing her to a cooked noodle. They also noted how incredibly flexible her joints are. It doesn't sound like a bad thing but there is such a thing as too flexible. They are referring us to outpatient OT for her feeding issues. We'll probably do that over the summer.

The PT was very pleased with where she is in her gross motor development. She continues to make strides in her running, jumping, strength, etc so that part went well. They didn't want to write a script for braces for this year which was awesome. They are insisting on specific types of shoes to help with the ankle rolling.

Genetics did their part and they noted the hypotonia, lack of overall growth, nystagmus and other occular issues and the behavioral/compulsive/impulsivity part. They were concerned with the stark changes in her overall behavior. She went from being VERY passive as a baby to very hyperactive/impulsive and compulsive as a pre-schooler. The doc did say that because of her midline issues he was not surprised.

Neuro did their part last and noticed all of the same things. He is the "big wig" so he has final say over things. He reviewed where she is and these were the highlights and plans of action:

- Growth - They had hoped to see her growing a little better. Last check she was on par for 5' tall but it is not looking that way any more. She has not gained any weight in about 6 months now so they are concerned. They started the conversation about growth hormones which we are not really in favor of. It isn't something we would do anytime soon so we'll see on that.

- Behavior/Impulsivity/Compulsions - The doc asked how we felt about medicating her and we said that we were adamant that she NOT be medicated this young. We know it might be in her future but not now.

- Hypotonia - Because she gets a fair amount of OT and PT services at school we are doing pretty much everything that can be done in this area. The reality is that her tone is low and will always be low. It is something she will learn to accommodate for as she gets older.

- Eye Issues - Although she had the double eye muscle surgery her eyes still have some weakness. This is NOT something that could be (or could have been) fixed with surgery. There are eye muscle exercises as well as visual therapy that could help her. The problem is that when you combine the head rolling and the visual issues it can create a problem.

All in all I was pleased with the appointment. We got some questions answered and added a few more to the list. We will go back in a year and reevaluate these issues then. So for now we kep doing what we're doing.


  1. Hang in there. I know it's hard, I have been there or I should say, I am there. I have done the appointments. Have hope, it does get better! My daughter is 10 now. I read through your blog and It tells what my life has been. I sent a request into facebook for the support group, but have not heard back.

    Smile & love your daughter everyday. She is different for sure...but in a very good special way! :) We are blessed to have this opportunity. God knew we could handle it and thats why we are the lucky ones.

  2. Hi Anon - Thanks so much for posting. You can e-mail me your FB name and I will make sure you get into the group!

  3. Hi Kristen, I'd like to join as well but I'm not your anonymous writer! I'm Midge Markey, my boy Wyatt is 4 (5 in a couple of weeks)and was born with RS plus Hydrocephalus. Thank you!