How's your extra chromosome?

The last few days have been interesting. We celebrated Halloween with friends on Saturday & went trick or treating on Sunday. We went to a festival on Sunday as well.

Saturday Sean was a bear. I didn't get him a costume just for Halloween because I didn't know if he'd be here for Halloween. I didn't know if he'd still be in the hospital from his surgery or if he'd even make it through surgery. It was just as well. It was cold.  Meredith wore the costume I painstakingly made for her. I sacrificed my waistline by eating candy so I could use the wrappers for her costume. She was a candy fairy. Meredith was not thrilled with her costume. She didn't want to leave her hat on and she wouldn't carry her tootsie pop wand.  I'm sure that if I hadn't tacked her wings directly to her jacket, she wouldn't have worn those either. I was so disappointed that she didn't ham it up more. In her defense she was tired from having not napped all day, but still. She was wearing candy for heaven's sake. She couldn't have cared less. She didn't want to walk and didn't want to sit in the stroller. We walked the Coney Island parade route and then stopped on the boardwalk to figure out where we were going to have lunch. We decided on Peggy's. We could have lunch & a much needed and deserved beer.












While we were there Meredith got her second wind. She hammed it up because she was delirious. She started dancing all over & then was playing on the stage.











On Sunday we went trick or treating. Meredith wore her back up costume of ballerina. This year Meredith got the concept that she was going door to door to get candy. She really wasn't thrilled with the whole idea, but she did what she had to to get the candy.







Then we were off to the festival. She rode a pony & again just didn't look thrilled. Rob & I decided that since we were there for her and she wasn't having fun that we'd just head somewhere else. So we headed back to our old block on West 4th Street. Meredith walked up & down the block & we said hello to our friends while we tricked & treated. It was nice to see everyone.









But that's where my fun ended for the day. While speaking to someone there, it came up that another woman's daughter (who also has down syndrome) was getting worse. I pointed out that down syndrome is not a progressive disease. This woman proceeded to tell me that it is in fact a progressive disease. So I'd like to now take the opportunity to clear some things up for anyone who is unclear what down syndrome is.

Down Syndrome is a set of characteristics that affect a person who has three number 21 chromosomes. Every person has 46 chromosomes. 23 come from each parent. A person with Down Syndrome has 47 chromosomes. Your chromosomes cannot change. They cannot deteriorate. Down Syndrome is not a disease that has a specific degenerative path. It also does not have a regenerative path. It's not like there is anything I can do change his chromosomes or anyone else's for that matter. I'd also like to point out that everyone has schmutz on their chromosomes that affect all sorts of things. Schmutz on your chromosomes affects how your genes act or don't act for that matter.

For instance, there are between 300 & 500 genes on the 21st chromosome. These genes affect various things. When there is something "wrong" in the genetic code or there is extra (trisomy 21) matter, the genes get different messages than they're supposed to get resulting in unpleasant or different from the norm outcomes. These outcomes include various facial features (including those associated with down syndrome), deafness, a form of leukemia, various breakdowns of amino acids, etc. This website explains it better than I ever could http://ghr.nlm.nih.gov/chromosome/21

With the help of various therapies and other interventions, a child with down syndrome has a better chance at reaching his or her full potential. Without the aid of therapies & other interventions a child with down syndrome would & will be like any other child who has a learning disability, physical incapability or other miscommunication in the genes.

So I suggest that before "you" start to discuss something with me about down syndrome, you had better have your facts straight because you bet your sweet bippy that I have done a ton of research on genetics, chromosomes, what each gene on chromosome 21 does and how a miscommunication in between of those genes can cause things to go wrong. I have also done a ton of research and have found that just because there can be a miscommunication between the genes, doesn't mean there has to be. It doesn't mean that simply because a mutation in gene amyloid beta (A4) precursor protein or APP can cause alzheimer's, that it will cause alzheimer's in my son. 

Today I got a phone call from our original service coordinator, Mrs. R. She called to inform me that the service coordinator, Ms. A, we wanted to transfer Sean's case to left the agency she was working with. I was so angry that Ms. A had left the agency and didn't bother to call us. I had spoken with her last week so it's not like she didn't know she was getting Sean's file. I feel it was completely unprofessional of her to accept our case and then leave. Mrs. R asked me today why we were switching coordinators. I didn't really want to have to deal with that. I was trying to make it as painless as possible. I finally just told Mrs. R that we were switching because I felt we'd benefit more from a coordinator who works with our service provider more often and has a good working relationship with our therapists. That isn't an untruth. It just wasn't the whole truth.

What I am finding is that by being an involved parent, I'm expected to do a lot of the leg work for Sean's case. Not that as his mother I shouldn't know things about his care or be able to speak to therapists, social workers, etc on their level. But when I ask a question, I expect to have a liaison that I can trust to point me in the right direction. I want a coordinator that instead of sending me a disc of clinical guidelines (you know because she knows "i'll find what I'm looking for"), that she'll just tell me to get a letter from the pediatrician & a justification from Sean's therapist.

So I called the service provider for Sean's therapies & the director, who has always been wonderful with us, helped us find a new service coordinator who had an open slot for us. In the end it's for the better. Everyday I learn something new about this early intervention maze.

Tonight was Sean's physical therapy evaluation. I knew & know that Sean is behind in his motor skills. I'm reminded of that fact every time we goto story time. Which, by the way, I think that until I can get over myself I have to stop going. I'm reminded that Sean is behind because there is a little girl who is 2 weeks older than Sean and she is spot on with her head control. She is where Sean should be. It leaves me feeling depressed every time I go. It also frustrates me that I can't just let it go. I work so hard with Sean and yet he just sits like a lump or gets pissed when I try to make him do some exercises. I have no clue what I'm doing with him or how I can make him happy.

Anyway, the evaluator came & she checked Sean out. She confirmed that Sean was in fact a little behind in his head control. She wouldn't say it was bad & she certainly couldn't say that it was good. And even though I was the one who initiated the evaluations because I know Sean is behind, it still saddened me to have someone agree with me. To Sean's credit though, he was quite angry & quite uncomfy. He needed to poop in the worst way & just wanted to eat. So he pretty much screamed the entire time and wouldn't cooperate. So it will work out for him in order to get the physical therapy, but it still stung quite a bit.

We'll find out in about a week what Sean's scores are for his physical therapy evaluation.