Nov 28, 2007 - who knew

It was 4 years ago today, our world came shattering down around us. Life as we knew it was NEVER going to be the same....we just weren't sure to what extent!!

Today, 4 years ago as I walked out of CHOC I got that dreaded voicemail from Anderson's neurologist I needed to call her right away. I remember where I was standing, I remember when she told me and the world around me started spinning. I still remember asking her 3 times how to spell CHIARI 1. I remember the dr telling me not to google it (yea, right, the 1st thing i did was google!!) It was a hard hard day.

All day today, I was OFF, I felt funny. I told my dear friend Kristen today, something is OFF with me today and I can't put my finger on it. Well, tonight I was complelled to pickup my blog and start writing. I wrote a post and was reading back on a few old ones.....then I found the date...NOV 28, 2007. I realized that was TODAY. I can't help but wonder if I remembered deep down and if that is why today was such a hard day.

I digress...but, Kaitlyn was due Oct 29, and was born Nov 10. STILL this year, on Oct 29th, I feel like I have something to do, that it is an important date...in fact it is important. Oct 29th was the due date of our first born baby!!!

As OCt 29th sticks in my mind still, I wonder if Nov 28th will too....as many people remember the date of a loved one passing away, or a birthdate, etc. I wonder if I will ever get over that nagging feeling about today.

Our lives forever changed today, with answers to our little man. Who knew that 4 years later, Anderson would have 3 additional medical diagnoses. Who knew what life would look like for Anderson 4 years later, who knew how complicated and challenging it would be, who knew that he still would not speaking 1 word, who knew.....

I sat in the parking lot at CHOC with RAW emotions of the news 4 years ago....still so raw and fresh today. People say time heals....wonder if I will ever heal from this.

I

Last Post

So, I was just realizing the last post on my blog was not a great one....in May. Whew...so much more to catch up on since that day. I am thinking I am going to try and blog a little bit to catch up on the last 6 months. Let me start with the additional diagnoses that Anderson rcvd since the 15 Q 13 microduplication. As I said in my 15Q post, we went to the geneticist b/c the neuro thought Anderson has mitochondria. The initial test for the mito came back negative, so they did the microarray looking for the 15Q, which was positive.

Once we got the 15 Q results, the geneticist was really surprised that the mito was negative b/c most 15Q have mito as well. So, they retested Anderson.

I went to see the geneticist with Anderson and Anderson's ABA in September. Charlie didn't come with me b/c we were assuming that the test results would be negative, they were before, right? Dr. comes in, sits down and said, YEP, the results I had expected....POSITIVE for mitochondria. WHAT?? I don't think I heard another word after those words. How could I process this?? I am by myself (again, why is it that I am ALWAYS by myself when the bombs drop??)...UGGH!! So, I ask 101 questions as my mind is racing. The dr feels these are more accurate results b/c the blood work this time was FASTING blood work, last time it was not done while he was fasting.

Mitochondria is very difficult to understand. There are varying degrees of it, as many of these things. Mito is the lack of energy in the powerhouse of the cells. So, basically, Anderson's body does not use the energy in his cells efficiently. There is NO cure, only meds to stop progression, it is a degenerative disease ;( that can impact the brain, liver, kidneys, heart. As of now, we do not believe any of these organs are being impacted in Anderson, we will continue to monitor closely.

The only thing you can do is give a "mito cocktail" of various vitamins and supplements to stop the progression of the disease.

We have not started the meds yet b/c we are waiting for an EEG first. The EEG was suppose to be tmr, but the neuro cx it today.

Then, in addition, in September Anderson's neurologist officially diagnosed him autistic. For Anderson, seems like a "label". He has so many medical issues, that it is hard to decipher what is causing what in him....but as it stands he has the following medical diagnoses:

15Q13 microduplication
mitochondria
Chiari 1 malformation
autism

WHEW! That is quite an extensive list for 5.5 year old child.

My heart was once again broken in pieces in September, I cried for about 2 weeks on this one (the 15 Q took me about 2 months to stop crying).....

Things I will blog about in the coming days/weeks...this is my reminder:

1) TMS/CHOC speech
2) School district Mess
3) Potty Training ;)
4) EEG
5) neurologist - Dr. S

Everyday is always a new adventure. I have been saying for so long, I need to blog again, need to blog again. I am going to try and start doing it.....today!!