Thursday, September 9, 2010

Breaking up is hard to do!

So, what happens when you don’t feel like you and your child’s doctor or therapists are on the same page? You break up with them! It sounds so simple but it’s not that easy.

Not every doctor will be on the same page as you with your child’s care. As a parent of special needs kids, you are going to be your child’s best advocate. If you are uncomfortable with a doctor search, ask others, call your insurance even to get a referral for a new doctor.

There have been plenty of times in Iron Man’s short little life where we were not happy with the care and what the doctors were saying. The first Neurologist we saw dismissed my questions when I asked about his development. Iron Man was 11 months and just starting to crawl and was nonverbal. I was told I was over-reacting. He had a seizure and the hospital threw away the orders for his 24 hour EEG. We decided to make a formal complaint against the hospital when they had us wait for several hours and then get upset when the 12 month old little one didn’t want to stay still to have the leads on his head.

The second Neurologist we saw when he was 15 months old saw him for about 45 minutes and uttered these words to us “He’s autistic. We’ll see you in 2 months for a follow up on the MRI on his brain.” then she walked out of the room! Needless to say the husband and I were in shock but made the 2 month follow up appointment as we were told to do. We showed up and she forgot who we were, why we were there, and lost our only copy of Iron Man’s MRI scan that his eye doctor did. My husband and I walked out of that appointment and decided to not go back. We ended up deciding to go to yet a third neurologist. We’re going to be headed back there next week.

As far as the therapists that work with your children? There are a few options. If your child is still in Early Intervention, you can call up your Case Manager and ask for a new therapist. We were told to give it about 3 months before making that determination though. Right around the time I was ready to call about one of Iron Man’s therapists, she quit. She did the dirty work for me.

If your child is in school it’s not so easy. We are starting a new school year for Spiderman, Batman, and Iron Man will be starting next week. I have a feeling that the Physical Therapist that works with Batman and Iron Man won’t be so willing to work with them after the week we just put in with her. We had to start the formal process for due process; we ended up not having to go and Iron Man now has his PT. But I’m afraid my stick-it-to them attitude may have altered her willingness to work happily with the men.

One other important bit that makes parting so much easier is to ask for letters from doctors and a copy of records automatically. I have a file folder on Spiderman, Batman, and Iron Man and when we need to go to the doctors the file goes with us. It makes it easier to go to appointments if you have information with you and if you need a second opinion, you have the records with you.

Tuesday, August 31, 2010

Support Systems

“Your child has a 16p11.2 duplication, PDD_NOS, and will most likely be intellectually disabled.” I heard these words in February of this year. I don’t think I could have felt worse at that moment. I felt alone, like no one in the world would understand what we were going through.

According to Laura, a mom of twins who both have developmental delays, “the right support system is a complex one depending the special needs issues you have. Find the support is complex, but what you don't realize until you've developed that support (at least so it seems to me) is the different types of support and places that you can get it.” I became a bit frustrated until I found this group of about 25 women throughout the globe on facebook who have children all with the same syndrome all searching for answers. We’ve exchanged not only information but we are our own little cheering section!

I thought I could lean on family for support but not everyone wants to or can understand what we go through on a daily basis. Unless you are here day in and day out you don’t really “get” Chris’ daily struggles. We have many family members who are older as well and don’t understand that autism can look different in each person who has it.

We have also built a support system through Iron Man’s therapists who work with him. Since he has MANY therapists, it is easy to ask questions of them. Although I did teach Special Education for many years, my expertise is in older kids so it can be hard even for me to know what is “typical” of someone his age and what is not.

Although we’ve only gone through this since February, I feel like we’re getting headway with our support system. What do you do for a support system?

Thursday, August 12, 2010

Our Boston Trip

Christopher has 16p11.2 duplication. He has 3 of a part of the p11.2 area on the 16th gene. The doctor said the duplication is better than the duplication and he will fare better. However, he will still have challenges throughout his entire life.

The doctor said that Chris condition isn't anyone's fault. My MIL insists that it's my fault because I couldn't get my prenatal vitamin in. I had hymeramisis! I lost 30 pounds thanks to throwing up. I got a vitamin through the iv's in the hospital. This doctor said that there was a fluke in either my egg or George's sperm that had this condition pre-wired already in it. So when either that particular egg or that particular sperm was used in concieving Chris, he was bound to have this. So, my MIL told me it was my bad eggs with all the things wrong with me. I guess she feels the need to blame someone and I'm the scapegoat.

He has some minor physical characteristics of the syndrome; the gap between his big toe and 2nd toe is bigger than it should and his eye has a slightly larger fold in it than it should. His head is smaller in proportion than his body as well. It is in the 25%.

The deletion has a heart condition associated with it as since Chris has the duplication, we shouldn't worry about it.

The abnormal MRI's he's had done prior to the diagnosis would have been a prime way to diagnosis him as the doctor said that almost ALL children with the duplication and deletion have abnormal MRIs. Chris has something called delayed mylenation. The easiest way to explain it is to think of a computer. Chris' brain is the computer, the neurons etc are the connections the computer needs to run. Chris' connections aren't all the way connected so his brain (computer) will be running slower than it should. Therefore, his capicity to gain new skills is slowed down and this will be a confirmation of intellectual disabilities.

Children with the deletion and duplication have a higher rate of seizure disorders so we need to be mindful of it. He's had 2 seizures when he was less than a year old and the doctor actually suggested what he has been doing that we thought were self stimming behaviors are actually seizure activity. He suggested we follow up with a neurologist for the possible seizure activity and to have periodic MRI's done.

He said that the rate of autism with this disorder is around 80%. Chris has already been diagnosed with PDD_NOS. My mom told me she feels that he was diagnosed as autistic only because WE told the doctors things that aren't true. The doctor who diagnosed him was working with us for a year and a half so he's seen him. The doctor used his observations, what the reports from early intervention say, and what we said to diagnos him. AND, it was confirmed by a doctor who is on the NJ board of directors for the govenor for autism research.

The literature said there's a higher rate of mental illness with this disorder. The doctor said it is only a 10% chance higer than the general population. I'll take my chance that he's on the 90% that don't have, KWIM?

As far as what to expect further down the line...there is not really a way to know what to expect. They said that the technology that was used to find genetic syndromes like this one is only 3 years old and so they haven't done a longitutal study just because the majority of those who have found out about this around around Chris' age. They are doing a study in Boston and NYC that we said we'd be interested in doing.

The doctor also said that Chris NEEDS the PT the school is denying. The syndrome itself has the low muscle tone associated with it and he will forever be clumsy looking, have week core, etc. He sits in a "W" sit and if he goes out of the "W" sitting position he will fall after 10 minutes or so. He also peeters out with eating after about 10-15 minutes. He feeds himself and will get tired from all the work and will get up and we will feed him.

This doctor also said expressive language is more delayed than receptive which is the case for us.  Chris is around an 18 month level for expressive but at a 27-30 month level for receptive.

They want us to go back there once a year for followup care, see the neurologist for follow up MRIs, and continue with our other specialists, the ENT, Allergist, eye doctor, developmental ped, etc.

Tuesday, August 3, 2010

Hoping to update more regularly

I'm done with college and will have more time.  We are going to Boston's Children's Hospital of Boston on Tuesday to get some answers.  Here's a good resource to start with 16p11.2 facebook group.  Here's another good site to start with information.  The doctor's at Boston told me that the duplication and deletion are similar so to look at deletion information. 

Tuesday, May 18, 2010

16p11.2 duplication and autism

After talking to a few other moms on facebook, we decided to all compile our information on a blog to take it to our doctors.  This, hopefully, will be that blog.

Wednesday, January 13, 2010

First post

I'm the mom of 4, two have delays. I am a former special education teacher who stopped working when my last son was born.

I have been a research fanatic since my youngest son started showing signs of delays. Now I have a collection of books that have to do with delays that he and my 4 year old have. This blog is to share the wealth.