Trisomy 9

Several months ago I started a series about Trisomy genetic disorders. I'm just getting back to that series after taking a brief break. You may want to refresh your memory on what Trisomy is and how it occurs. I've also written about Trisomy 8.

There are three forms of Trisomy 9:

1. Full Trisomy 9 is the most severe form in which every cell has three copies of chromosome 9. In most cases the developing embryo is not viable and the pregnancy will end in the first trimester by miscarriage. Some babies with full Trisomy 9 survive until birth, but only live for a short period of time.
2. Partial Trisomy 9 involves an extra portion of chromosome 9 is included in each cell. You can get an idea of what that might look like here (scroll down to diagnosis). Life expectancy with this form of Trisomy 9 varies widely. This form is generally more rare than full and mosaic forms.
3. Similar to Trisomy 8, Trisomy 9 often occurs in a mosaic form in which some, but not all, of an individual's cells have three copies of chromosome 9. Depending on the severity of medical challenges the life span of individuals with Mosaic Trisomy 9 can be shortened dramatically.

 Statistically, individuals with Trisomy 9 share several characteristics including medical issues, physical challenges, and behavioral traits. Each affected individual is unique and should not be "expected" to fit a certain developmental profile, but some common challenges include: low birth weight, congenital heart defects, global developmental delays, cognitive challenges, cranio-facial differences, and low muscle tone.
For more information on Trisomy 9, check out the following links:

• a fairly personal view from one family is here
• links to several other resources are here
• a more clinical view
• break out the tissue for this video about some girl scouts reaching out to one little girl with trisomy 9 mosaic syndrome.

It's Raining...finally

Here it is January, and the dreaded rain has finally come, only now that it's so late to show up it's more to be desired than otherwise. The only thing I like less than a Rainy Winter is a Droughty (is that a word?) Summer. I don't know if the rain is here to stay or not. I know the forecast for the next few days is wet. More than a few days "trapped" Indoors and my kids start to get out of whack - and so do I - "Cabin Fever" at its worst. So I thought I would brainstorm for myself, if not others, what we can do on these lovely wet days in front of us...besides watch TV, I mean. Meanwhile we're celebrating the letter "I" because it is time for another round of:

Imbibe games. We got some really lovely preschooler friendly (no reading, no complicated rules) games for Christmas and Birthdays this year. We already had Candy Land, Shoots and Ladders, and Cootie. Now we have Hi-Ho Cherry-O, Monkey Dunk, and Don't Break the Ice added to our collection. We also have a couple of "concentration" games. These are all easier for the child to master, too, and she loves to be In charge of the game. The kids love to play these and usually once I get them started I can even sneak out for a round or two.

Invest in puzzles. Jigsaw puzzles are great, too, for problem-solving, visual-motor coordination, fine motor skills, and ample opportunity to layer on the praise and self-confidence. They require a little more supervision around our house since my kids love to mix the pieces together and use them as mini-frisbees and such. Keep an eye on all of this.

Images in paint. My new favorite art activity for the kids is watercolor. With a heavy, broad-bottomed cup of water an inexpensive brush, and some paper - scratch or otherwise - some pretty impressive art can occur with minimal input from Mom. Clean up is pretty easy, too. Rinse the brushes and throw the cups into the dishwasher. Put the masterpieces somewhere to dry and voila, we're ready for the next activity.

Investigate outdoors. At the first signs of rain my kids are usually eager to get out in it, believe it or not. The sensation of fresh water bouncing off their skin is Irresistible, it seems. Last I checked children don't melt. We have nice raincoats and boots that were just made to get wet, and even if their regular clothes get a little wet, what's another load of laundry compared to some fresh air and exercise?

If it sounds like I'm giving myself a pep talk, I am. I've mentioned before that the long rainy days of Winter can get the best of me. This too shall pass, but until it does, I want to remember these gray days as opportunities to make fond memories, not as days endured with clenched teeth.

Got any more Ideas for me? Please pass them along by clicking on "comments" below. Thanks! Don't forget to check out the other creative "I" riffs here.

Sunday Digest 39 - Liebster Blog Award

[portions in italics added 1/16/12 after reading comments and following a few links...]

So one (actually two) of my few, but faithful, followers nominated me for the Liebster Blog Award. Thanks, Rose-Marie! and Autism & Oughtisms! This award honors all of us hard-working, consistent-posting, just outside the limelight bloggers. Specifically blogs with less than 200 followers. Part of the honor is passing it along to five other bloggers that haven't hit the big time - yet. So today's digest will be pointing you to a few bloggers that I follow who you should definitely check out...later on you'll be able to say, "I knew them when..."

How funny that I happen to be posting this on Golden Globe night... Envelope please...And the Liebster goes to:

1) A Wish Come Clear - OK I may be cheating. I don't know how many followers this blog has...it's actually surprising how many blogs *don't* say how many followers they have. Ah well. Caroline McGraw contacted me recently...she may do a guest post here soon if I can get my act together...and she has perspective that I need. Her brother has special needs and she now works in a community with adults with special needs. I'm just getting to know her, but I can already tell she has a lot to teach me.

2) Not for profit, but for JOY! - Everyone can use a little more joy in their life, right? Stacey and I seem to struggle with the same stuff - juggling everything that being a mom and wife means and finding time for ourselves somewhere in there too...multiplied by having a child with special needs.

3) eSpecially ben - VMI shares touching stories and artwork from her special son, Ben. I think I first found eSpecially ben through Magic Marker Monday at 5 Minutes for Special Needs. Very inspirational.

4) Delayed but not DENIED! - The name says it all, so does the verse on the blog banner, John 9:3. I think maybe I like Territory Mom's posts most because we live in total suburbia and she gives me a dose of farm life along with inspiration.

5) Janet Ann Collins/Onwords - I have met Jan IRL and she has a lot of experience that has been helpful to me. I also really enjoyed reviewing her book, Signs of Trouble. Much of her writing involves individuals with special needs, though she also touches on other subjects...all with a sense of humor and care for others.

So those are my Liebster awards...off to notify the winners. I should also note that many of these bloggers "follow me back" and I really appreciate the reciprocity. Stay strong, ladies! Here are the rules to pass along the award:

• Show you appreciate the blogger who nominated you with a thank you shout out!
• Nominate 5 other blogs, who have 200 followers or less, by leaving them a comment.
• Post the award on your blog
• Keep up with the blogs you've given the award to...

And I guess in some versions there are questions you're supposed to answer. Many people do this with great wit and wisdom, but since this is tacked on I'll be short and sweet, and maybe mildly amusing:
Favorite color - dark green and blue - someone has to balance out all the yellow my husband throws around
Favorite animal - elephants - they are so big, and so amazing
Favorite number - really? people have favorite numbers? Five I guess  - that's the date of my anniversary, my birthday, and the number of people in our family. There.
Favorite drink - since giving up sodas blueberry tea - yum - hot or iced love it.
Facebook or Twitter - both, but mostly Facebook
What is my Passion - well now that is a very interesting question that I've been thinking about a lot lately...Learning, Solving Problems, and Helping Others seems to be the theme of the day
Do I prefer giving or getting gifts - I find both ends of the gift thing to be stressful, but I guess I prefer giving because when I get I have to write thank you notes and since I don't usually get around to it that is guilt inducing.
Favorite Day - The first day of Spring. I love Spring.
Favorite Flower - to smell : Jasmine; to look at : orchids and passion flowers.

Book Review - The Interrupting Chicken

Dinner conversation at our house these days is an event to witness. Everyone has something to say, even if it is not relevant to anything, often all three children are talking at once. I try to moderate:

• "It's Sissy's turn to talk, please wait."
• "Make sure no one else is talking before you talk."
• "Mommy can only hear one person at a time."

I am not always this calm about it. The child hates being interrupted and because of her language processing issues it takes her a while to figure out what she wants to say. If she is interrupted she has to start back at the beginning (yep), and then she has to figure out what she wants to say all over again. You can see why it is upsetting to her. Meanwhile her social skills haven't quite reached the level of knowing when she is dominating the conversation. She rattles on and on and her siblings just want to ask for more bread. Fun times. Really.

I asked for some help from our Speech Pathologist at school, and she recommended this fun story about interrupting. I'm not sure it is quite what I was after, but Interrupting Chicken is a really cute story. The little red chicken is all ready for bed but she wants a bedtime story. Papa agrees to read on the condition that little chicken will not interrupt. You can tell they've been through this before. "I'll be good, Papa." Papa tries three different familiar stories, and each time little red chicken interrupts and "ruins" the story. Papa gives up in exasperation. He is more sleepy than little chicken. He decides to turn the tables and have little chicken tell the story. So she writes a story and reads it to Papa, who interrupts, "ZZZzzzzzzz." Finally we see them snuggled up together fast asleep. This reminds me of our family. Daddy often does the bedtime stories and can read himself to sleep quite easily. Meanwhile the kids are still wired and ready for action.

Taken as its own story, this is a great book, as evidenced by winning a Caldecott Honor Award. The text is engaging and easy to read. The illustrations draw you into the story until you feel like you are in little chicken's room trying to get her to sleep. I really like how the three familiar stories are brought in both in text and illustration. I think it helps the reader understand the impact of the interruption.

For my purposes, I'm not sure this is quite what we need. First, the book isn't about a conversation, but story time. Though not perfect, our kids have gotten a lot better about sitting and listening to a story. All of those trips to the library are starting to pay off, I think. My second hesitation with this book is that there's no clear consequence to little chicken when she interrupts. In fact she kind of gets her way because she wants to stay up later. That's the kind of message I don't want my kids to pick up on. I want them to learn that interrupting is rude and reaps trouble.

So I'm still looking for a tool to help teach my kids polite conversation skills, but if you want a fun read, check out The Interrupting Chicken. If you know of a good book I should check out, let me know in the comments below.