First Steps

Today at fourteen months old Caroline took her first steps.

I emailed our doctor, his reply was "if she's walking we can probaly rule out angelman syndrome." we'll still checking with the second test though. We're not checking for cerebral palsy however which works because the appointment is not scheduled yet.

I sad was not able to catch her first steps on camera, she had fell down by the time I had pulled out my phone. I hope this means she's just delayed but then... three speech sounds is very few for a fourteen month old.

Diagnosis

We got the results

Normal

At first I was thrilled to see that in my email. until I read on. We have to go to another genetic test In one week I thought we'd have more time between the two. So this is how angelman syndrome testing works: you go to the first test where blood is taken in a few days you get an email saying normal or abnormal either way you go to another test to know for sure.

I am so nervous about the next test I've done it before but Caroline hated it and it's so hard to get her into the car.

Update: We found a really good communication book for Caroline. You can find a link for it here

Communication Book

The AAC boards I was making for Caroline weren't  working so I tried to find some official ones. For a flip/fine motor solution glue the printouts to cardboard, punch holes and put binder clips through the holes

AAC Board

I met with Caroline's speech therapist today. I asked about AAC her response was "well she's a little young for AAC, I'd say wait until she's three and if she's still not talking we can decide if she should start AAC". I did not like this. She needs to start young. I told her that. Our speech therapist is still not helping. So today were talking about how to make your own communication board In a super easy and simple way.

How To Make A Communication Board:

1. Get on your writing document app on your computer.

2. Select Table and choose your grid size.

3. Change the faunt size to make your grid fit your page.

4. Use emojis/photos for pictures.

5. Shrink faunt size and add text.

6. Print and use.

Why I wanted a communication board:

1. It's light.

2. Caroline's not good with electronics.

3. It's free.

Exausted

 I am so tired from the appointment. Caroline (my daughter) fell asleep in the car on the way back and she almost never does that. I think the genetic test went okay.

Observational Test

The doctors said that she had a chance of having mid angelman syndrome (the syndrome we're testing her for) but they can't tell with just observations.

Genetics Test

This test was more difficult. The doctors had to take her blood and she did not want then doing that to her. She kept squirming and I think that's what tired her out most because she was crawling all over the room to keep away from the doctors.

She's doing okay now and has started standing on her own for five seconds without falling over.

If you want to lean about angelman syndrome check out this link

angelman syndrome

Great Link

 First thing we leave for the genetic test in a few hours AHHHH!

there's a link I want to share with you.uncommon sense blog this is a great blog for parents with special needs children. very important to read.

 

uncommon sense blog

 

a second link this one is better for parents of older kids

 

letter to a child with speech delays 

Freaking Out

I had a phone call with the doctor yesterday he told where and when the genetic test would happen. I asked him about cerebral palsy. We're going to see how the genetic test goes first we should take a break between tests it what we agreed, I mean it would probably be hard for a thirteen month old to have so many tests at once.

The genetic teat is in two days I AM FREAKING OUT

- what if she has a genetic syndrome?

- what if she can't behave?

- what if the doctor is wrong?

- what if the clinic is bad?

- what if we have to cancel last minute?

- what if i can't get her in the car? (it happens sometimes)

- what if we're late?

- what if we have to leave early?

- she's never been to anything medical bigger then the doctors office and therapy sessions.

On a happier note she stood without support for the first time today. It was only for a few seconds but I hope this means she starts walking soon.

Help Anyone

Okay...

I'm starting to wonder if I should have realized this sooner but I'm pretty sure I'm the parent of a special needs child. I mean when you only miss one developmental milestone you think well every child grows at their own pace missing one mile stone is no cause for worry.

But then it is: your child starts to miss more and more milestones, you see the doctor about and he says "well we can run some genetic tests but if we get negative results on the tests we can't be sure at her age".

What if she has cerebral palsy though can't that be tested now?

Well the doctor didn't mention cerebral palsy. I'm going to get a genetic test for my daughter next Saturday