Trisomy 18

I'm continuing my series on Trisomy disorders. You can read the overview post here. Briefly, trisomy occurs when at conception an extra copy of one chromosome is transferred from the parents to their offspring. There are also forms of mosaic trisomy which occur during cell division, resulting in some cells having an extra chromosome and some not. Our chromosomes usually occur as pairs and are numbered from the largest chromosome (with the most genetic material) to the smallest, and Trisomy 18 refers to an extra copy of chromosome 18. Trisomy 18 has been in the news a bit more often recently because the former Republican Presidential Candidate Rick Santorum's daughter, Bella, has this disorder. She is three years old.

Trisomy 18 (also known as Edwards Syndrome) is the second most common form of trisomy, and occurs in 1 in every 3,000 live births. Because of the physical complications associated with Trisomy 18, many affected babies die before or shortly after birth.Affected males have a higher mortality rate than females. Most children (90%) die before the age of two months. However, some (mostly females) can live into their twenties and beyond, though they require assistance with daily living.

Trisomy 18 can be diagnosed prenatally. There are two levels of testing. The AFP or triple screen is a blood test that indicates statistical risk of Trisomy 18 (or other disorders) being present in a developing baby. This is not a specific diagnosis, but a "screening" test that may suggest further tests are advisable. Only about 11% of those with a "high risk" AFP result will go on to a confirmed diagnosis. Ultrasound is another method for screening. It may indicate physical differences in the baby, but the cause of those differences would be indeterminate. CVS (samples the structures that connect the pregnancy sac to the uterus) and amniocentesis (samples the amniotic fluid surrounding the developing baby) examine genetic material and give a more definitive diagnosis. There is a risk of miscarriage from these procedures. Following pre-natal diagnosis it's important to discuss the results with a genetic counselor who can explain what the results mean. I think it's also important to find resources and parents who have already lived with this disorder and know what you may be feeling and experiencing.

Each individual with Trisomy 18 may have a different combination of medical and developmental challenges. As with other forms of trisomy, in addition to the full Edwards Syndrome there is Partial Trisomy 18 (where only a portion of the chromosome has an extra copy) and Mosaic Trisomy 18 (where not all of the cells contain the extra copy) but these forms are less common, and each has similar potential challenges, including:

• Heart defects - a hole between the upper or lower chambers, or narrow aorta.
• Kidney problems
• A portion of the intestinal tract may be outside the stomach
• The esophagus may not connect to the stomach
• Clenched hands
• Pocket of fluid on the brain
• Rocker bottom feet
• Delayed growth
• Severe developmental delays
• Umbilical or inguinal hernia

Some of these medical challenges can be corrected with surgery, others may cause long-term issues such as congestive heart failure, and susceptibility to pneumonia.


For more information:
     Visit Susan's blog (buddzoo.com, where she shares her story of caring for her 3 year old daughter who has Trisomy 18. Susan also moderates a facebook group for families of Trisomy 18. (see comments below)
     Visit the Trisomy 18 Foundation here.
      Read stories from parents and family here.

Work

A lot of people are looking for it. Evidently being a mom doesn't qualify (at least in some people's lexicon.) A few people are addicted to it, but a lot of people wish they didn't have to do it.

I have kind of an interesting perspective on work. I have tried to juggle work and being a mom in just about every combination known to woman. There are pros and cons to each situation, and I still haven't figured it out by any stretch.

I was a full-time mom when the child was a newborn until she was 8 months old. Then my maternity leave ended and I "went back to work." She was a pretty demanding baby, a function of what we now understand as her sensory disorganization and oral motor challenges. Honestly I was pretty overwhelmed with her care, and just starting to hit my stride when I resumed my teaching position. I'm very glad I had that time with her, but since I had expected to return to work I didn't really allow myself to settle into being a mom.

When I returned to my job my husband and I had a strategy to keep us both working and to keep the child out of daycare. It worked for a while, but we were stretched thin, and we knew it early on. It didn't make sense for me to keep working and essentially hand over my paycheck to someone else so they could be with our daughter. So I finished out the academic year and returned to full time momming.

It took a while for me to settle into my role as a stay at home mom. I wasn't bored (too busy for that...) but I did miss the sense of accomplishment that comes with completing a project or knowing that you've truly been helpful to someone. Somehow folding the laundry didn't quite cut it. I still enjoyed the new freedom, though, and explored some new hobbies. Just when I was starting to get in step again, the twins arrived on the scene, and the child's issues came front and center. Suddenly we were stretched again physically and emotionally. The economy shifted, and now here we are...

It became clear that I needed to start working again, this time from home and in partnership with my husband to boost our income a bit. I have to admit there is a piece of me that is loving the feeling of professionalism, and problem-solving, but it may be the worst of both worlds. I am distracted from my kids who still need a lot of supervision and training, I'm limited "at work" by what my kids need, and I'm still seen as an "at home mom" who has so much free time on her hands to...

The point is, work is important. It is important not only as a means of support for our families, but as a fulfillment of a basic human need. Adam and Eve worked in the Garden of Eden even before that whole apple incident. Their work was satisfying and fruitful without the drudgery that stifles us today. We were made to work. In whatever way you work - in or out of your home - it's important to understand that you're striving to do what you were made to do, but in a world that is waiting to be restored. It won't ever be quite perfect.

Waxing eloquent on the Wonderful letter W. Click here to see the other works of art...

Sunday Digest 43

Time to share the best of the things I've found while floating through cyber-space the last few weeks. I hope you'll visit and enjoy the links below and let them know you found them through The Simple Life:

1) One of my best new finds is Just a Lil Blog by Jim. It is great to get a dad's perspective on special needs parenting. His post People, Not Data really resonated with me and added to what was already brewing when I decided to write my own post "Making it Good" over at 5 Minutes for Special Needs.

2) Varda at The Squashed Bologna always has something to speak to me - several recent posts nailed me actually - but this one, which was a rerun from Hopeful Parents is one of my favorites. We need to start planning for the future of all of these young people now identified with autism or related disorders. The world is going to have to change big time!

3) I LOVED this take on Trisomy 21 by Tammy at Praying for Parker. So many of these "disorders" are naturally occurring conditions that, while challenging, have always been a part of the human condition.When will we accept this?

4) And, while we're on the subject of Down Syndrome, please listen to the testimony of this young man who reminds us that even though we're all different, we're all the same. We all need God. Hear how God used him to reach out to special needs children and their parents and teachers.

5) No matter what you're facing this week, it's good to remember that we each meet the future at the rate of 60 minutes per hour. Some things (the tedium of laundry and dishes) we wish could go by faster, but others, like the wonder of a child exploring the world around them we should stop and enjoy a little more. Tsh Oxenreider shared these thoughts at (In)Courage.

Book Review - Being Me

Being Me is another great public library find. I am not sure which child decided that we needed to bring this little gem home, but I'm glad it ended up in our library pile. At first I thought it was just a cute book about various personality traits of this spunky little girl with poof ball hair, which it is, but it is more. This is a little girl that almost any child can relate to. She likes dressing up, painting, doing cartwheels, and eating chocolate chip cookies. She has to do chores. When she's not at school she spends time with her baby sister and her parents. She seems like the kind of girl you would want for a friend, and she is.

The difference is so subtle, that I almost didn't catch it the first time we read the book. Stated matter-of-factly among all of the other attributes, the little girl informs us that she can't hear. In fact, it seems almost like a benefit as the page where she proclaims this bit of news is one of those "so much noise you're head will split" kind of pictures. Oh, the picture itself is quiet, but what it depicts is a blaring siren, a barking dog, a wailing baby sister and a jet plane soaring overhead. The parents are clearly out of sorts with all of the noise around them (maybe especially the baby) but the little girl is just as happy as can be.

She goes on to explain that she talks with her hands - a concept my children are familiar with thanks to Signing Time. These two differences are tied up with a neat conclusion that we are all different, even though there are a lot of things we have in common, too. Differences are celebrated - I love you, you love me. That's it. Short, sweet, simple. Perfect.

This is exactly the sort of thing we've been talking about a lot at our house recently. Helping the child understand how she is different from her peers has been an on-going conversation. I know it is sticking because she keeps asking me questions about autism. Helping her understand that her differences are just a part of her and not something to be ashamed of is important to me. She is loved, and while the things that make us the same help us to get along and get things done, differences are important, too.

Some features that I have grown to love about this book are the illustrations, which pack a lot of meaning into the simple prose. To me the characters are all fairly ambiguous ethnically, which adds to the universal appeal of the children in the story. The text is simple enough that my four-year-olds have enjoyed reading the story again and again. Hopefully we can fit in a few more readings before we take it back to the library.

Reprise - Timer Tools

We are feeling the sandwich squeeze for the next couple of weeks as we are taking on my mother-in-law's care to give my sister-in-law a little break, and hopefully enjoy Easter with Grandma. To make things a bit easier I am reposting this oldie but goodie - originally posted April 2010. I started using timers with the child, and now I find I use them for myself almost as much as I use them for her...my frazzled brain needs something to remind me that I was just about to do something. My daughter has also taken on setting her own timers - for when to do homework, how long to use her mouthwash, when I've told her she can watch a show. It is a great skill to learn. Timers are just wonderful...

Many children, but especially those with special needs, struggle with transitioning from one activity to another. One very powerful tool to helping a child with special needs navigate their day is the use of a visual schedule, but just knowing the order of events to expect may not be enough. How much "time" can be alotted for each activity may also need support tools. For children with special needs a portion of the struggle can be understood as a poor concept of time. How much time to do I have to play? When do I need to be ready to go to school? What time does the party start? When will my friend come to play? All of these questions and more may be hard to conceptualize, vocalize, or comprehend the answer to.

Allow me to introduce you to my favorite time keeping tools:

(pictured above, left to right, top to bottom)

The digital clock - ideally a child will also learn to use an analog clock at some time, but when a child has learned numbers up to 59 a digital clock can be a much more accessible tool. We use the digital clock in our car to talk about what time we need to be somewhere, and what time it is now...so are we running late and needing to hurry, or do we have plenty of time and can relax.

The Time Timer (TM) - available in many teaching supply stores, the Time Timer also comes in a smaller more portable version, and is an excellent tool for children who are extremely visual. "How much time do I have to play?", "We have 30 minutes before we need to get in the car. Would you like to see how much time that is?" After a lot of use the child knows a little red is a little time, etc. There is also an audible (but friendly!) beep when the timer reaches zero. Our favorite use for the Time Timer is to set a kind but firm limit on "snuggle time" in the morning before time to get dressed. Because we always use it for this function we need no verbal reminders of what it means when the timer beeps.

The sand timer - also available in many teaching supply stores, and in various lengths of time. We have a one minute timer and a two minute timer. Thankfully we don't use them too much any more. They were primarily used for "time outs". Our time outs are used to reinforce our house rules and as an opportunity to calm down. Using the sand timer can be beneficial because watching the sand flow from one side of the vessel to the other is mesmerizing and has a calming effect. Hooray!

The portable timer - excellent for trips to the park ("We need to leave in 5 minutes...I'm setting my timer"), events in the back yard, or anytime that we're moving around the house a lot. It can also be used when giving the child a choice (and a little control) over which timer they want to use. "You can play on the computer for five more minutes...would you like to use the red timer (Time Timer), the white timer (portable), or...

The kitchen timer - ours beeps until you turn it off, so it is harder to ignore and claim that it didn't run out yet. It's only downfall is that it is rather fixed in place, so it requires some back and forth if you are elsewhere in the house.

I think as our world becomes more hectic, more technological, and more complicated, everyone seems to struggle with time management. There's a whole arsenal of tools to help our kids begin early to learn skills to manage their time, and bring some measure of peace to the flow of our days.

Special thanks to two wonderful people, Clarissa Montanaro and Robin Hauge, who turned me on to the power of using timers with children with special needs. Please contact them at clarissamontanaro-AT-gmail-DOT-com for more information.