Neruopsych eval, genetics and GI

We came home from being gone all weekend to Jillian's neruopsych eval results.

Overall things look really good. Most of her scores were right around a 3 year old level. Her understanding of language is really high for her age.
It mentioned that she has a slight hand tremor and that as she gets older some daily living skills might get harder for her but based on the scores she is not going to qualify for OT right now (that is one nice thing of having a special ed degree and reading these test results, I get what all the scores mean and what she needs for qualification for things, Brent's comment was it looked like French and just to give him the Cliff notes).
It mentioned that at a few times during the testing that Jillian wanted to play with things and not do what they asked... she is 2yr old. That is so typical of a 2 year old. In fact we are just starting to see behavior where she is wanting to do her own thing and as much as it is frustrating sometimes, it is very age appropriate and shows that she is developing. Yea she is going to want to play with a toy instead of do hard work, I do too!
Her gross motor skills came out low. I don't think they are as low as the test showed and the full PT test we do every 6mo does not show her to be as low as their test did. Gross motor is hardest for her, but it is going to be.
So overall the test showed that her needs are physical and not cognitive which is exactly what we were hoping it would show.

I also got to talk to genetics on Wednesday (I had just complained to GI that genetics was not communicating and then magically they called). The woman called me and said she was returning my phone call and I was like "the call from like 2 months ago?" yea that one! They let me know that Jillian's muscles look like they are not used at all. She walks so obviously her legs are used. They have no idea why her muscles would look like that. I asked what we do next and they said we can rerun the big genetic test once a year to see if science has learned anything new that can help us. We will rerun it once a year in July but our chances of it telling us anything are still 20-30%. Other then that they don't have anything they can do for us. I find it hard to believe that there is nothing anyone can do to figure out an overarching diagnosis for my kid. I am really happy now that we go to Madison genetics for a second opinion next month. Hopefully they have some ideas.

We met with GI on Wednesday. Jillian is up to 25lb!!!!!!! She is still at the 5th percentile for weight but making it to 25lb is a huge milestone for her. We are going to leave her formula/tube feedings alone since she made weight gain. We are upping her acid reflux med and her gastric emptying med since she gained weight. We are also adding the rest of the meds on the mito cocktail. The mito cocktail is a mix of meds that are given to people with mito to help their muscle work better. Since our best guess is that Jillian has mito her GI dr wants to start her on the med mix for it. They are all vitamins so the likelihood of them hurting anything is super small. I would rather give it a try. We have ordered all of the vitamins online and are waiting for them to come it.  Overall I think it was a good appointment. Other then upping meds we are leaving everything else the same. Right now from a GI standpoint Jillian is stable and that is a really nice place to be!

All bundled up for winter. Her lungs are not a fan of going out in the cold but she is good about keeping her winter stuff on between the car and home

Just Dance Kids

Playing stickers with Cheese. Auntie Sandi made her a sticker treasure hunt through my parents house. She loved it! It was fun spending time with people for the holidays.

PT goal review

Yesterday it was time for Jillian's PT goal review. Once every few months we sit down with her therapist and look at Jillian's current goals to see if she has accomplished them or if she still has a ways to go. Last time we did a goal review Jillian had stagnated in her skills so we were not able to add any new goals because she had not completed any of her current goals.
This time Jillian had met several of her goals!!!! We had a few goals that we modified for how her skills changed and we were able to add a new goal. Jillian really wants to be able to jump and her current jump is just her bending her knees. Her new long term goal is to learn how to jump, with short term goals of all the skills she needs to be able to jump. I am excited for her for this because it is something she wants so bad and is really determined at. We also still have a stairs goal and a getting on and off of things safely goal, as well as endurance.
I really appreciate her therapists. They don't only take into consideration what is appropriate for her skills but also what she wants to do. Jumping is not the next "logical" thing with where her skills are but she want to jump so bad that we are going to work on what skills she needs to jump and help strengthen other things while we are at it. I love that they are flexible in their thinking.

Cardio-palm lab

Yesterday we had a fun experience... Jillian got to go to collage!

Jillian's PT went to school at Marquett and her former therapist is an instructor there. They had asked us a few months back if we would be willing to participate in a lab for PT students in their last year of school. Jillian was all excited!

It was a fun experience. Their plan was to have several kiddos there that he cardio and/or pulmonary needs and PT needs, however they ended up having some other kids cancel so it was just Jilli and one other kiddo. This meant that Jillian had a bunch of students working with her which at first she found intimidating however she quickly turned on the charm. They had to do an eval for PT and evaluate their cardio and breathing needs. They did notice a slight wheeze in Jillian's lungs however that is not uncommon.
There were two labs so Jillian was evaled for an hour, then students presented, then we had a break and then the second group came in an evaled for an hour.
By the second group Jillian caught on to what they wanted her to do. She also caught onto how to get her way. At one point she had over 10 collage students following her down the hallway and she was playing red light green light with them. She decided to go explore the collage! She is something else!
Overall the day was fun and I hope the students learned a lot.
I started to get a migraine the last two hours of the lab so sadly I was not able to enjoy it as much as I would have liked to.
Once we were done Jilli and I stopped for some coffee to try to help my head. We then met Dan and Brent at Stir Crazy for dinner. By this point my head hurt so bad meds were not touching it and I did not really eat dinner. Our service was sssslllllooooowwwww especially for a Thursday night. We were finally done and the boys dropped of Brent's car at work, Brent came back and drove Jillian and I home and Dan went to his house to get clothes and drove to our house to spend the night. The boys then carpooled into work today since Brent's car was still there. I'm thankful the boys were able to help because there was not way I could have driven home.


Jillian had neuro-psych testing done. Once I have the full results back I will blog about those... we wil see, in our breif meeting with the guy after the testing I was not a fan of a few things he said because I don't agree with them (he said Jillian has attention issues, I'm a teacher, I get kiddos who struggle with attention, my kid who played with playdough by herself for 45min this morning is not concerning to me for attention needs but we will see what the formal report has to say, I'm trying not to make judgements til then)  

So thats the fun we have been up to the past couple weeks!

My little doctor

Jillian the train

Sent Brent to Walgreens to pick up her meds and he came home with a "foot piano" as Jillian calls it

She loves doing art projects!