Another diagnosis dealing with clotting -- Van Willebrand disease

I just got a call from Children's Hospital again. Evan was just diagnosed with a disease called Von Willebrand disease. It has to do with blood platelets and clotting. I guess the bruising is from this and we will need to be careful because if he has any injuries or surgeries he may have a hard time stopping the bleeding. They are going to talk to us more in person when we can go up to the cities to talk to them. We'll probably just do it in Feb/March when we have to go back for the other results.

Here's a link I found:

http://en.wikipedia.org/wiki/Von_Willebrand_disease

Letter from the genetics doctor finally arrived

We received the letter from the genetics doctor that I can use for proof of Evan's test results. Now I should be able to get some appointments scheduled and get him signed up for services. It's pretty much "doctor speak" and wouldn't make a lot of sense if I didn't already know the diagnosis of 18q- and all the other stuff. So, hopefully I can start to get things all lined up, and get followup appointments scheduled. The letter was sent to his pediatrician, and so now she can give us the referrels we need in order for it to be covered by insurance. This is GOOD news. Glad that things are coming together a little bit....

His pediatrician can't see him until January 3. So I hope that when she gets this letter, she can start the followup appointments and referrals coming.

Evan picking up Cereal

I made a video of Evan yesterday because I thought it was interesting how he was picking up the cereal he dumped all of the floor while I was in the shower. Have I mentioned that there's never a dull moment in my house? Anyway, here's the video... so he took a bag, put a piece of cereal in it, then he dumped it into the garbage and put the bag on the table... then he proceeded to take a new bag. At the beginning of the video though, he dumped the bags from the table onto the bench, I imagine this was because the table was full and he couldn't fit any more bags on it? I'm not quite sure... but it's a little bit intriguing.

Every day is a new adventure...

Wednesdays are my whole days with Evan, or better yet, the days I have to bite my lip so that I don’t go crazy. He only attends school from 12-2:15, 4 days a week.

Evan is very determined. And he will repeat until you do what he says or repeat what he says
I have learned that I need lots of patience with him. And sometimes even that isn’t enough
The day continues on and on. And sometimes my patience wears thin.

This morning in the bathtub, he would not get his head wet. So I gave him the choice, you can either dip your head in the water, dump a glass of water on your head yourself… or I can do it for you. He refused to do either or to make a choice, so I had to be the mean mommy and dump the water on his head.

After we finished that and got dressed and all that fun stuff, he informed me that it was breakfast time. But he didn’t want a pop tart... He said he wanted hot dogs. Don’t’ quite know where he got this idea. Then I just said no, no hot dogs for breakfast, but you can have a pop tart. I set it on the table and waited. Then he wanted hot cocoa. So I tried to find the cup he wanted, but he said he wanted the froggy one, which I had no idea what he meant and then he got upset at me.

Then my phone rang and it was my mom. Evan started dancing and singing to the Brad Paisley song, which is the ringtone on my phone. Then he started saying thank you to me, but I didn’t understand him… so he started to yell. My mom asked what the deal was, I said I didn’t know. Then I figured it out, and said oh you said thank you?, and I said you’re welcome.. then he said yes and was ok. Then he wanted to talk to Grandma…

Then after I got off the phone, he wanted something else… I started just saying “Show me” when I can’t understand him, because he gets so mad and frustrated sometimes… so then it turns out he wanted the permanent markers that were on top of the fridge. So I gave him the colorwonder markers and book instead (much less mess that way, lol).

So far so good… this is my day with Evan, actually this is only his activities for about 2-3 hours because he slept in today (which is not normal) and because I didn't have time to write about the entire day. Just wanted to paint a picture about how his attention span and his activity level is. He jumps from one activity to another faster than I can keep up, lol. Some days are better than this, some are a lot worse. I never know what to expect. Or what to plan for. But I need lots of patience... :)

It is always an adventure, never boring. I wrote this at about noon today. By 2:00 I was feeling a big headache coming on. It's hard to be patient and calm with the constant energy and the occassional screaming or tantruming when he is not understood or doesn't get his way. Wow, I could sure use a day at the spa, lol.

New diagnosis and all that fun stuff

There is so much information running through my head right now. Doctors, teachers, programs... who should I contact, who should I get involved, and what should I wait on. On Monday, my son Evan had an appointment at Children's Hospital to discuss the results of some blood tests that were done in June. I was all prepared to discuss the list I had for the doctor, which seemed to point to Autism, but instead I found out that they found a small peice of his 18th chromosome missing. It is called a chromosomal deletion, on thelower part of the q arm of the 18th chromosome called 18q-. I was confused, shocked, surprised.

We had heard about 18q-back when Evan was 6 months old. He had narrow (stenoic) ear channals, which prevent him from having normal hearing. The CT scan was looked at by the radiologist, who recommended that we look into the 18q- disorder. At the time and at the followup appointments, both the ENT doctor and the Genetics doctor thought that Evan looked too cute to have such a diagnosis. His head wasn't as small in proportion to his body as they would normally see with this disorder, and his stature wasn't short, so they overlooked the recommendation and all doctors, therapists and teachers up until this point have just focused on the hearing loss and made me think that I was going crazy because on one else saw the behaviors that I was seeing.

I guess I should feel validated, because now I finally know that I was right and that there was more than just a hearing loss. It's a bit scary, so I'm not quite sure how to feel. So, I'm just trying to keep busy and trying to take it day by day.

We did more blood tests on Monday and hope to get the results in March. These results should tell us what extent this disorder will affect Evan, and what we should be able to expect in the future. There are certain health issues associated with a deletion of the 18th chromosome, so hopefully this test will tell us which ones we will need to look for in Evan and what we will be able to expect in regards to his cognitive abilities.

Here's some info on 18q-.
http://www.chromosome18.org/Genetics/18q-.aspx

Evan just woke up, so I'll have to stop here and add more info later.