A Life Like Yours - Maddie's Story

For today's 31 (days) for 21 (chromosomes) I am posting this inspriational video about Maddie. What a beautiful young lady! This is from the Catholic Archdioces of Washington. It is from a piece titled,“A Life Like Yours” On The Dignity of the Disabled and the Call to Save Them From Abortion, By, Msgr. Charles Pope. Click HERE for the link to the entire article.

Karyotype Images and Types of Down Syndrome

For today's T21 tidbit, I'm reposting the image of Erin's actual chromsomes.  It is called a karyotype image and it shows a picture of the chromosomes found in one of Erin's cells.  I never thought I'd be looking at my child's chromosomes, but now that we have the image, I find it pretty cool!  If you click on the image, you'll see that the pairs of chromosomes are numbered.  On the bottom, you'll see the smallest chromosomes, number 21, with three copies.

There are actually three types of Down syndrome, and karyotyping, is used to determine which type your child has. The most common of the three types of Down syndrome is called Trisomy 21. With this type, the extra 21st chromosome is found in every cell in the body. Translocation Down syndrome is the second most common type. In this type of Down syndrome, a part of chromosome number 21 breaks off and attaches itself to another chromosome, often chromosome number 14. This causes all cells in the body to have the extra piece of the 21st chromosome. When a child is born with this type of Down syndrome it could mean that one of the parents is carrying chromosomal material that is unusually arranged. The third type of Down syndrome, and the least common, is called Mosaic Down Syndrome. In this type of Down syndrome the separation of the 21st chromosome occurs in one of the first few cell divisions AFTER fertilization. This causes the baby to have some cells with 46 chromosomes and some with 47. Because of the fact that not all cells contain the extra chromosome 21, the range of Down syndrome features will depend on the ratio of cells with 46 chromosomes to those with 47 chromosomes.

We assume that Erin has Trisomy 21. Four of her cells were tested after birth, and all four had 47 chromosomes. We know for sure that she does not have Translocation Ds. Since her birth, the protocol to rule out Mosaic Ds is starting to change. Many doctors are now requesting that more cells be looked at - up to 100-200. They say this many are necessary to rule out Mosaic Ds. And the cells should come from different parts of the body (skin, tissue, blood).  Because most labs, in the past, have only tested a few cells, some theorize that Mosaic Ds is actually more common that previously thought.

Many parents really don't care which type of Ds their child has...but I find it all so fascinating :)  We sure love our girl with designer genes....designed by God.

Be sure to ask a question if you have any, about Ds or Erin, during  Ds Awarness month.  I'd be more than happy to put my teacher hat on :)

My Sweet Squishy Girl

One of the most endearing traits that we love about Erin is her soft, huggable, little body.  She is a bit squishy.  She can do the splits with ease, and all her joints are super flexible.  My kids say she has superpowers which allow her to bend and fold in any direction (think Incredibles here...LOL).  Often, this is one of the first things that others notice about Erin.  We call this low-tone.  The official word is hypotonia.

Here is the definition of hypotonia:

Hypotonia is a medical term used to describe decreased muscle tone (the amount of resistance to movement in a muscle).  It is not the same as muscle weakness, although the two conditions can co-exist.  Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders, such as Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.  Sometimes it may not be possible to find what causes hypotonia.  Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control.  Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes.  Hypotonia does not affect intellect.  However, depending on the underlying condition, some children with hypotonia may take longer to develop social, language, and reasoning skills. 

Hypotonia can effect all the muscles in the body, including the ones you don't normally think of, such as intestinal muscles.  Kids with Ds can have hypotonia in some muscles, but not in others.  One area where hypotonia shows up in almost all kids with Ds is the mouth - the oral muscles.  That is one of the main reason why those with Ds have speech delays and difficulty with enunciation.  Have you ever tried to hold a conversation after you've been given novocain for dental work?  That is a pretty close representation of how a lot of kids with Ds feel when trying to speak!  Isn't it amazing how well they do, given this information?!

The Divine Chromosome

Trisomy 21 is the official, or medical name, for Down syndrome.  Tri refers to three and somy refers to chromosomes.  Therefore, Trisomy 21 means three copies of the 21st chromosome. What does that mean for Erin?  It means each cell in her body has an extra 21st chromosome (the smallest chromosome in the human body), making a total of 47, rather than the typical 46. Oh, and I should mention that all of the chromosomes in a person with Ds are perfectly normal, with no abnormalities.  It is simply the case that there is an extra one. In most cases of Ds (there is always an exception), the extra chromosome is present before conception, coming from either the mother or the father.  While the odds of having a baby with Ds increase slightly with age, 80% of children with Ds are born to women younger than 35 years of age. In many ways it is like winning the lottery!  I will try to remember to post an actual picture of Erin's chromosomes in a later post - pretty cool!

So, for today's Trisomy 21 tidbit, I'll post one of my favorite articles....

http://www.downsyndromecentre.ie/blog/2010/jun/09/down-syndrome-and-evidence-divine/

First Haircut for Seamus!

 We LOVED the curls while they lasted!  But, it was time, as you can see from this first photo...

  

Before...

And after...What do you think?

I think he likes it...

And, on another note, we had a great time at our local Down Syndrome Awareness Walk this morning!  We met some lovely new folks who have little ones with designer genes.  (Little Mia from Sturgeon Bay stole our hearts!)  Here are four of the kids after the walk.  Erin was NOT in the mood for a smile today.  So, let's just add that little fact to our Ds Awareness month info:  Contrary to popular belief, kids with Ds are not always happy.  They have all the same emotions as any other kid :)  Okay, okay... it is true that one of Erin's nicknames is "happy", which fits the stereotype so well, I admit.  In her case, she is almost always happy.  But cleary, she was not happy in this picture and that would be because she wanted OUT of the stroller.  Her wish was granted just after I snapped this picture :)

Down Syndrome Awareness Month

October marks the beginning of Down Syndrome Awareness month. On Saturday, we (or at least some of us) will attend an awareness walk with our local organization.  It should be a lot of fun and I look forward to meeting up with some friends.  Why do we need an awareness walk?  Well, for one, Down syndrome is the most common genetic condition caused by a chromosomal abnormality. While most of us know or love someone who has Ds, there is still so much to learn about it!   And for every sweet little baby born with designer genes, who had a prenatal diagnosis, there are nine others who were aborted.  Unfortunately, we live in a world where it is common to pick and choose which preborn baby is worthy of life outside of the womb. We have lost the belief that all life is sacred.  However, I cannot help but think that part of that 90% statistic stems from wrong or misguided information. Information is a good thing, and I would love to help provide more of it, especially if it could save a life. So, with that in mind, throughout this month, I will try to give some accurate information here on my blog to help you all to see what Down syndrome is really like. I would love for everyone to see the many blessings that Erin has brought into our lives. 

Many of my friends in the Ds community have blogs.  Many share beautiful post on facebook. They are a wealth of information! During the month of October, many rise to the challenge of trying to post something about Ds each and every day. I really don't think I can keep up with that pace.  However, I am going to be resourceful and steal tap into some of my friends' posts during this month.  Nothing like sharing the love, I say :)  (with permission of course).  At the very least, I will try to post some fact or info about Down syndrome as many days as I can.

Last year during this month, I welcomed my readers (all five of you, lol) to ask any question about Ds, or Erin in particular. In real life, I am often asked about some of the blessings or challenges that come with Ds.  I don't think I had a single question on the blog last year, but I once again welcome any questions this year! I would be glad to answer a question.  Just ask a question in the comments section of any post, or email me privately. 

For starters, I'm posting this darling video of MaryEllen, my dear friend Diane's youngest daughter...

Photo and video editing at www.OneTrueMedia.com

Meet Cinnamon...

I think I have said, "I will never have a rodent in the house", a few times.  Ha! Famous last words!  Meet Cinnamon, our new guinea pig.  It all started with Eileen's need to have a speciman for her Natural Science class this year.  This is an awesome course offered through Mother of Divine Grace (MODG), our homeschool curriculum provider, that requires some experiments with little critters. In the past, Moira had used Beta fish.  Eileen wasn't too interested in that.  I asked around about rodents and found that guinea pigs are much less likely to bite than hampsters or gerbils.  So....here we are.  The kids actually love this little critter, and she is very gentle.  And, as a bonus, she doesn't stink!  The non-cedar shavings they make for the bottom of the cages now are very nice, absorbant, and clean very easily.

Now, maybe you're wondering about the experiments that Eileen will be doing.  She will be determining if music, rock or classical, can effect Cinnamon's behavior. For the first three weeks, she will take data on Cinnamon's "normal" behavior in her environment (sleeping, eating, exercise, general behavior and intelligence). Intelligence will be measured by timing her going thru a maze.  The following week she will play rock music, 24/7, and test for the same behaviors.  The following two weeks Cinnamon will be returned to normal environment.  The last week, classical music will be played, 24/7, and she will again be tested for changes in behavior or intelligence.

Any music suggestions for Cinnamon?  I'll be sure to let you all know if she starts rocking out or break- dancing to some music :)

Brotherly Love

Happy Belated Heart Day Erin!!!

Three years ago, on Sept 19th, our little Erin had her heart repair (VSD and PDA...for those who have had to learn new meanings to certain letters of the alphabet).  This year the day passed by without a grand celebration.  I suppose that happens as the years pass, and I suppose that's also a good thing. Erin is fortunte, thanks be to God; she has no lasting effects from living with a large hole in her heart for the first six months of her life.  Had she been born 50 years ago, she may not be here today. (Open-heart surgery was not always done for those with Ds, even when the technology was available. Thankfully, that is not the case today). Even though we did not have a grand celebration, our hearts are filled with gratitude once again.  Parents just never foget having to watch their child go into heart failure and then endure open-heart surgery.  Thanks be to God, most kids come out on the other side, quite miraculously, stronger than their parents ever imagined they could be. So, once again, we offer prayers of thanksgiving for our little Happy's complete recovery!  We also include prayers of thanksgiving for little Zelie, six months old, who had her heart repair last month.  She is the youngest child to some friends of ours.  That extra chromosome has a way of bringing people together...some of the best poeple we have met!

And now, some recent photos of Erin, showing off that strong heart...

Such a little personality...

She always has to smell the flowers....

Crystal Lake {Part 4}

Well, we've been so busy with school that I have not added our final photos.  Maybe part four is overkill anyway :)
 Here are the kids star gazing on the lake, late at night.  The stars are amazing at Crystal Lake!

And last but not least.....a snapshop Eileen took of us returning to good ol' Wisconsin!