Answers!

It has been a long long long time since I posted anything. I have found that the use of Facebook makes it easier and faster for me to document my little ones funny things! I hope that I start blogging again, there is so much more you can blog about, but the time to do it is hard for me to find ;)

Last Tuesday was a bittersweet day for us. We had an appt with Anderson's geneticist.

Background: We saw a new neurologist the end of last year. She is a great dr, and interestingly has Chiari 1 herself. When we saw her, she felt Anderson was NOT autistic, but had autistic "like" characteristics attributed to something "bigger". The neuro sent us to see a geneticist/metabolist looking for mitochondria (energy in the cells are not used efficiently and do not fire quickly).

We saw the geneticist in January, he drew blood checking for mito. We went back in March and Anderson did NOT have mito. However, the geneticist felt after reviewing Anderson's record there were 2 tests he wanted to perform on him checking for 2 different things.

I felt in my heart something was going to come back from these tests, I had a "feeling"......

The Friday prior to our appt, the geneticists' intern called me. She starting asking me a lot of questions....I found this odd b/c they did not do this prior to the last appt. At this point, I KNEW something was coming back!!!

Unfortunately, on Tuesday, Charlie could not come with me to the geneticist. We had spent the entire morning in Anderson's IEP with the school district. That meeting took 3.5 hours and Charlie really needed to get to work. So, I went to the geneticist.....by myself ;(

Anderson was sitting on my lap when the dr came into our room with 2 interns and his genetic counselor. I looked at the genetics counselor that we have known since Anderson was 1 and she would not look at me. My stomach flipped.......

The dr sat next to me and said, well, we have more information this time. I sat nervously waiting to hear which of the 2 things came back positive.....I did NOT "want" either diagnosis.....they were not good and I knew it.

The dr told me which one was negative, and I started crying.....that meant I knew the positive before he told me ;(

As I sat listening to the doctor, I felt someone was speaking Greek and Chinese to me. It was so overwhelming and surreal to sit and listen to the things the dr was saying and realizing he was speaking about MY CHILD. There are hardly words to describe how it felt.

Anderson had a test done when he was one called a "macroarray". It looks at the chromosomes looking for abnormalities. Today, 3.5 years later, that test has developed and has better resolution....the test is called now a MICROARRAY. Thru the microarray they were able to give us a diagnosis.......

15q13 microduplication syndrome - a chromosomal abnormality

At Anderson's 15th chromosome, a section of the genes duplicated. Some individuals have a full extra chromosome 15th chromosome, Anderson does not have a FULL extra chromosome, he has extra genes within his 15th one. (Down syndrome is an extra chromosome or extra genes at the 21st chromosome to give you a point of reference.....)

This duplication is the mostly commonly found genetic marker in AUTISTIC children.

So, we got 2 answers at once.....he has the 15q13, but confirmed now....autism.

Double hit!

I asked the dr the connection between all of this and Chiari....he explained that children with 15q13 tend to have other congenital abnormalities....IN Anderson, his is the Chiari 1.

I had tears in my eyes, the dr said, no, no no don't go there. So, I quickly pulled myself together and asked many more questions.

Basically, dr is not worried about our other 3 children b/c they are developing typically. We do not know where this came from....it "just happens". As you can imagine, since this test did not exist 3.5 years ago, this is NEW research, the dr said that the information about 15q will be developing with Anderson.......research continues with 15q, it is just so "new".

The geneticist was "surprised" with the 15q that Anderson came back with NO mitochondria. So, we are rerunning more tests trying to check to be sure he does not have mitochondria. We will not have these results for several months.

It is bittersweet to have an answer. We have spent the past 4 years searching, looking and searching for an answer........the neurosurgeon said for the past 2 years the Chiari was secondary to something else....what was the "else"?? Well, we got our answer Tuesday, 15q13.

After the dr left, I busted in tears. The genetic counselor stayed behind to talk to me. She had tears in her eyes as she talked to me. She put into words how I was feeling...."Liz, I know you have been working so hard the past 4 years for answers and you got them. As a Mom you have so much hope this will "all go away some day"....today, you got an answer and it is genetic....it is not going to all go away." It was EXACTLY how I felt, exactly.

I am trying to find peace that we have an answer and I can stop looking and searching. I can now take all of that energy and put it into recovery and helping Anderson.

Another positive is......we did not realize it, but ALL of the therapies the past 4 years, the diet, the supplements, etc from the biomed dr we have been doing the last year is EXACTLY what we need to be doing to help Anderson. So, we have accidentally been doing all the right things.....intense therapy and alternative treatments in autism. We will just be going after these alternative treatments more aggressively.

We have found the link between Anderson's delays. When you read about 15q13 (not very much on line b/c it is sooo new), you feel like you are reading about Anderson.....hypotonia, cognitive delay, gross motor delay, fine motor delay, speech delay, etc.

Today, Anderson still can not say 1 word, he can barely make a circle with a crayon, he is not potty trained, he screams a lot, cognitive delays etc......and he is almost 5. Anderson continues to make improvements all of the time! He is evaluated every 6 months during his speech therapy. During the past 6 months, he had the most growth out of any other 6 month period in his life, which is very encouraging. These small accomplishments mean the world to us.

It was confirmed last Tuesday, this is going to be a life long battle for our little man, but I am determined to help him develop to the best of his potential.

We tried to explain the 15q and autism to Kaitlyn and Ryan a few nights ago. They asked us great questions, "How did he get this?", "Will he ever talk?", "why did this happen?". We answered all of their questions as honestly and openly as we could....but, we just don't have the answer to most of these questions anyway ;(

Thanks for all of the emails and phone calls. I appreciate all of them. It has been a hard week and I was just not really ready to talk about it. Still trying to wrap my head around it and what it all means.........

15q13 microduplication syndrome, autism, Chiari 1 are Anderson's diagnoses

I feel relief I have an answer, but heartbroken of what the answer is..........