Look at Me Now!

I have been doing this here and there and everywhere lately.  I even walked all the way from the lobby to the speech therapists office like this on Friday!  On this video though I am again distracted by the camera:)

Family

Will is so lucky to have cousins that he is so close to.  They are almost like siblings...in all the good and bad ways:)  They are great peers to him but they also just enjoy being silly together!

He is also extra lucky to not only have his grandmas and grandpas, but also a great grandma! Although I wish Will could have met all his great grandmas and great grandpas, I am grateful that he has had time with Grandma Brough because she is a pretty amazing lady! She has 6 children, 27 grandchildren and 50+ great grandchildren and has led a wonderful life.  Will is part of a pretty big family on all sides. He has lots of cousins, aunts, uncles, grandmas and grandpas all around which is something you can never have too much of!

This weekend Will is going to visit Grandma and Grandpa Crandall and Grandma and Grandpa Bartosch for a weekend of fun!

Getting Better...

Will is getting better with the utensils.  I have a video of him using them but it won't upload (which is why this post is late!) so the pics will have to do for now.  The mess is killing me but he is doing so great with the utensils and is much more independent about it now.  He gets a little angry if I try to help:)

Cool Genes

There are 3 main types of Down syndrome.  The types are nondisjunction, or Trisomy 21, translocation and mosaicism.  In nondisjunction, there is an extra copy of the 21st chromosome because of a lack of division of gametes, a sperm or egg cell, at some point prior to conception.  Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.  This type is not inherited.  Will was tested by a geneticist when he was about a month old and had his complete karyotype reviewed and this determined that he indeed had nondisjunction.  A karyotype is a complete look at your chromosome numbers and characteristics under a microscope to look for differences in length or number.  Current research  has shown that Trisome 21 is due to a random event during the formation of sex cells. Down syndrome occurs in all ethnic groups and among all economic classes.  There has been no evidence that it is due to parental behavior (other than age) or environmental factors.Mosaicism occurs when either there is a nondisjunction event during an early cell division in a normal embryo and leads to a fraction of the cells with trisomy 21, or a Down syndrome embryo undergoes nondisjunction and some of the cells in the embryo revert to the normal chromosomal arrangement.  This type is rare and only accounts for 1-2% of Down sydrome diagnosis' and is also not inherited.
In translocation, the long arm of chromosome 21 breaks off and reattachs itself to another chromosome and it is usually chromosome 14.  This type of Ds occurs in about 2-3% of cases and is an inherited disorder.

A Drug for Down Syndrome

Very interesting article...
http://www.nytimes.com/2011/07/31/magazine/a-fathers-search-for-a-drug-for-down-syndrome.html?_r=1&emc=eta1

Daddy Dressed Me

I apologize to my Indiana family and friends for this one...

Thanks grandma Sandy for all my Buckeye gear!

ALL Life is a Precious

I am going to go a little 'political' for a moment.  I am pro-life and have always been.  I believe all life is precious from conception to natural death.  I personally don't believe God makes mistakes, but just that we humans don't always understand his choices for us.  These feelings aside, I found it staggering and heartbreaking that more than 90% of women with a prenatal diagnosis of Down syndrome choose to terminate the pregnancy.  90%!  I wish I could say that I was part of the 10%, but because of my age and the fact that it would not have made any difference, we did not have prenatal testing, therefore we found out of Will's extra chromosome on birth day.  It truly would not have made a difference for me to know but it would have made the rest of my pregnancy very difficult.  The flip side is that it made Will's birth day less than the joyous event that it should have been.  The truth is that there is no easy way to find out that the child you are carrying is less than perfect in most people's eyes.  I pray for the 90% and I feel sorry for them.  I feel sorry that they never got to know the amazing person that they were carrying just because that baby had an extra chromosome.  I don't blame them though, because I am sure it was a very hard decision for them and that they felt a lot of pressure from their doctors and from society to terminate their 'less than perfect' pregnancy.  That is a lot of unnecessary pressure.  Can you imagine how many more amazing individuals there would be among us with extra chromosomes if there were less pressure to terminate and more education on the diagnosis?  Pray for life.  Pray for the 90%.  Pray for awareness and acceptance.
To learn more go to... http://www.idscforlife.org/

Walking Will

Little Helper

Aside from blogging too much...this is why I can't get anything done!

and this...

Yes he is playing in the toilet!  I grabbed the camera instead of getting his hands out:)  I know this is so gross but a little funny.  For the record it was clean:)

 

Books and Blogs and Awareness

Have you ever looked at some of the blogs that I have linked to my page?  They are great!  I follow some others as well and I will have to add those soon.  Many blogs are doing the same thing as me for Down syndrome awareness month and blogging everyday.  It is called '31 for 21' with the 21 representing Trisomy 21.
Also check out some of the books I have listed or a number of others out there about Ds.  'Gifts' is a great way to start.  My sister got me that book just after Will was born and it was huge for me.  It changed my whole perspective!
Also if you are in Columbus one other awareness thing you can do this month is visit the exhibition called 'Shifting Perspectives' at the Dublin Arts Council.  It is '... a photographic exhibition providing insight into the joy and wonder of what it is to be human - and living with Down syndrome.' 
http://www.dublinarts.org/

Cincinnati Down Syndrome Clinic

Today we are headed to the Down syndrome clinic at Cincinnati Children's Hospital.  The have a clinic, doctors and therapists all dedicated to just Down syndrome patients.  We went last year and are happy to return and get a check up! 

So we went to the clinic, then on to the zoo, then to Jungle Jim's and then Ikea!  It was a fun but long day!

At the Down syndrome clinic we met with the team that consisted of a pediatrician, physical therapist, speech/feeding therapist, social worker and normally an occupational therapist but she was out today.  So they all met Will and played with him.  They took turns trying to get him to do different things and then 'graded' him on the stardardized scale.  Have I ever mentioned how much I had standardized tests!  They are unfair:(  I realize they are just a tool, but it just doesn't seem fair to reduce all Will has accomplished to what he will do for complete strangers in 1 hour.  It took him the first half hour just to warm up to them!  Again I know though that they are just a tool and necessary to see where Will is in his development.  So he actually rated well in gross motor and was at the 14 month range and she was very happy with his walking, cruising, standing, crawling and ball throwing.  He rated a little lower in fine motor and fell at the 12 month range.  She said he had good skills but got knocked for lack of isolating his finger consistently.  She did say that she was happy to see him starting to point to things that he wants, which is a huge developmental stage.  In speech  he got a 12 month rating for receptive language for the things he understood.  She ask him to put things in and hand things to her, and mostly he complied.  She also tested to see if he knew what to do with a baby doll and if he pretends with play cups for example.  He did pretty well with these, so I was surprised that he wasn't higher, but for some of the commands he was just being stubborn!  He knew just what to do with that baby doll though, thanks to Ava and Lillian, and hugged it right away.  He can be such a sweet boy:)  His expressive language was his worst test and the one I expected the worst score for.  He is only testing at the 9 month stage since he has almost no words, and they don't count signs for this test:(  She was encouraged that he has been babbling more and liked how he made the 'vroom' sound while playing with the cars and reminded me that above all delays in children with Down syndrome, expressive language is the most delayed.  The all had great suggestions for us and gave us many new things to work on at home.  The team as a whole works so well together and individually they are great doctors and therapists.  We are lucky to have them so close.  Although it is discouraging to hear these numbers, I know we have lots of good resources at our hands and that all of this is to be expected.  Oh and they all thought he was cute too:)

Famous Ties

Some famous people with ties to Down syndrome...

Sarah Palin, governor of Alaska, has a son with Ds.

Liam Neeson, actor, has nephew with Ds.

Jamie Foxx, actor/singer, has a sister with Ds that lives with him.

Eva Longoria, actress, has a sister with Ds.

Albert Pujols, baseball player for St. Louis Cardinals, adopted his wife's daugher with Ds.

John C. McGinley, actor aka. Dr. Perry on Scrubs, has a son with Ds.

Gene Stallings, former University of AL football coach, has a son with Ds.

Eddie Lewis, US soccer player, has son with Ds.

Kathy Ireland, actress/model, has niece with Ds.

Will is playing in the 'corn box' at the Fall Festival!

Underfunding of Down Syndrome Research

I was shocked to find out that funding for research on Down syndrome has dropped dramatically in recent years. Funding of $23 million in 2003 has dropped to $17 million in 2008. This means that only $40 in research is being committed to each person with Down syndrome. $40!!!  In contrast, $3,000 in research is being allocated to each person with cystic fibrosis and $1,500 towards persons with Fragile X syndrome, both far less common medical conditions.  The reasons for this are that the number of people with Down syndrome is declining due to increased prenatal screening and what appears to be a growing trend among pregnant women to terminate their pregnancy if it’s likely their child will have Down syndrome.  Secondly, there is much more noise being made on behalf of other types of developmental disabilities. In particular, the money, star power and media attention behind the effort for more research for autism has overwhelmed many policy makers. Because young scientists are likely to seek funding focused on another disability, they’re less likely to devote their time and effort to Down syndrome.  In 2000, Congress passed the Children’s Health Act which, among other things, authorized research for a number of conditions including juvenile diabetes, Fragile X, asthma, epilepsy, autism, and traumatic brain injuries. Down syndrome, however, was not included.

There is hope though.  DownSyndrome Achieves is a national organization that was started last year in Columbus and is taking the lead in building research programs that will provide researchers the ability to conduct Down syndrome research.  DownSyndrome Achieves is credited with forming the nation's first Down syndrome research consortium, which will share resources, knowledge, information and technologies to accelerate DS research. The consortium consists of medical directors, clinicians, and researchers from nine different pediatric and academic institutions, including Cincinnati Children's Hospital, Nationwide Children's Hospital, and the Cleveland Clinic.  The leaders of the organization are families from Columbus and have kiddos with Ds and are very dedicated to the mission.  They are making good strides, but there is a lot of work to do.  Visit their website to join or donate or learn more... http://www.dsachieves.org/ .

Also check out these articles about funding and legislation.
Kathy Ireland has a niece with Down syndorme and speaks out about the tragic shortfall in Ds research... http://www.aolnews.com/2010/10/11/kathy-ireland-the-tragic-shortfall-in-down-syndrome-research/
Cathy McMorris (R-WA) has a daughter with Ds and introduces two bills to aid Down syndrome research...
http://mcmorris.house.gov/index.cfm?sectionid=96&sectiontree=25%2C96&itemid=1922

Getting Closer...

By getting closer, I don't mean Will is getting closer to walking...he is walking very well...I mean that I am getting closer to getting Will's walking skills on camera!  He has been toddling back and forth from the chair to my outstretched arms for awhile now but I can't get it on camera:(  Everytime we are practicing our walking and I get out the camera, he suddenly loses interest in walking and wants to play with the camera...he is crawling towards it at the end of the video!  Will has been 'almost' walking for about 4 months and everyday he gains a little more balance and confidence and each week he takes another step.  He can pretty much toddle across the rug in our living room which is about 8 steps...give or take:)  Now if I can just get it on camera!

Indy Buddy Walk

Today is the Buddy Walk in Indianapolis, IN.  Will's uncle and godfather is volunteering in honor of Will.  Thanks Uncle Ricky:)  Their event is a little different than ours but the goal is the same...raise money for Down syndrome programs and research and promote awareness.  In fact, there are more than 300 Buddy Walk's going on around the country that all are a little different but all with this same mission.  The Buddy Walk was established in 1995 by the National Down Syndrome Society to celebrate Down syndrome Awareness Month in October and to promote acceptance and inclusion of people with Down syndrome.  In 2010, 285,000 people across the country raised more than $11.2 million to support local programs and services, as well as National Down Syndrome Society advocacy and public awareness initiatives that benefit all individuals with Down syndrome.  There is however, still lots of work to do.  Down syndrome is one of the most grossly underfunded disorders.  The Buddy Walk and the funds raised help with local and national programs but also help to better the position of the Down syndrome community, enabling us to positively influence local and national policy.
So plan ahead for next year and walk with Will or in honor of Will at your local Buddy Walk.  We will walk the Columbus Buddy Walk in September and also hope to participate in the Indy, Fort Wayne and Cleveland walks as well!  Thank you all for your support of our Buddy:)
http://www.buddywalk.org/
http://www.columbusbuddywalk.org/  and http://www.dsaco.net/ (Columbus)
http://www.dsindiana.org/ (Indianpolis)
http://www.dsani.org/ (Fort Wayne)
http://www.theupsideofdowns.org/ (Cleveland)

Some Apple Juice A Day Keeps the Doctors Away

About 50% of the individuals with Down syndrome have heart defects, about 25% if not more have thyroid issues and about 10% have gastrointestinal tract abnormalities present at birth.  Life expectancy for individuals with Down syndrome has increased dramatically in recent years, with the average life expectancy approaching that of peers without Down syndrome.  About 80% of adults with Down syndrome live to age 55 and beyond. 
Will was lucky to avoid both the heart and gastrointestional issues but does have hypothyroidism.  It is complicated for me to explain this since I barely have a grasp on it...everytime we see his endocrinologist I have her explain it again...but essentially it means that he is not producing enough thyroid hormone so his thyroid has to work extra hard to get its jobs done.  And I stress the jobS part.  The thyroid is very complicated and the type of hypothyroidism that babies with Ds have is a little different than most hypothyroidisms.  So we see the endocrinologist every 3 months.  We are on our second endocrinologist.  The first one really confused me and drew funny pictures on papertowels and I just didn't connect with him.  When I left, I was unsure if Will needed thyroid medicine or if my car needed an oil change.  The new endocrinolgist is much better.  She is very clear and concise when explaining everything to me and has great bedside manner.  For now Will is on daily thyroid medicine, which is really not affected our life like I thought it would.  It wouldn't have been an issue at all, except that because of the way thyroid medicine is absorbed, they only offer it in pill form.  Since Will can't take a pill yet, I had to get creative.  So with some help from another mom in our group that also has a kiddo on thyroid medicine, I figured out a way to crush it and put it into the end of a baby syringe, then suck up apple juice to make my own liquid concoction.  Most days he takes it without compliant and sucks the juice out.  Otherwise though, Will is a very happy, healthy, growing boy that likes to get into things and make messes and hates to get clean.  Pretty typical:)

Hello!

Another thing that Will recently started doing is babbling on the play phone.  This is something that I have been trying to get him to do to promote more speech sounds and finally he has started picking it up on his own and putting it to his ear to 'talk'.  I know that this falls in that most people barely notice when their kid does this catagory, but I was overly excited since I want him to babble more...but also since I love to talk!  My niece did this from a very young age so I also know it is a typical stage that kiddos go through, but he just wasn't interested until recently.  His speech therapist really encourages it since it is good pretend play that promotes lots of sounds.  We really like his new speech therapist.  We see her every other week at Children's in Dublin.  She mostly plays with will and trys to get him to either babble or sign or take turns with something.  So he calls grandma and we talk to his friends and sometimes we call daddy at work:) 
We also have a play microphone that he is starting to really play with and he loves to shout into his bucket to hear his voice as well.  He is signing several things too!  He signs more, all done, ball, daddy, mommy, milk (sometimes) and for a couple days after we went to the zoo, he signed elephant, but now he won't do it:(  So although he has no real words he is working hard in the speech realm. 

More Alike Than Different

Kiddos with Down syndrome are more like their typical peers than they are different.  The do almost all the things that typical kids do but it just takes them a little longer.  Often they work twice as hard and twice as long to accomplish something that a typical kid does without much thought or effort.  But they will do it.  I have to remind my self of this on the occasion but so far it has been true:)
Will got this ball game for Christmas last year.  For several months I would show him how to do it and then watch in frustration as he would take the balls and throw them and use the hammer to hit the balls across the floor.  So I put the toy away:(  Then a couple of weeks ago when Ava and Jonas were at our house, Jonas found the game and started playing with it the correct way.  When he got bored and put it down, Will crawled right over to it, pounded on the balls then put them back and started over!  I just shook my head in disbelief.  The influence of Ava and Jonas is priceless.  They are my little built in typical peer models which is a term used in special education for typically developing kids that serve as role models for delayed kiddos.  Will is so lucky to have them!

Who is Down?

Down syndrome is named for John Langdon Down, an English physician who first published an accurate description of a person with Down syndrome in 1866.  In 1959, the French physician Jerome Lejeune identified Down syndrome as a chromosomal anomaly when he observed 47 chromosomes present in each cell of individuals with Ds instead of the normal 46.  The extra material is an extra copy of the 21st chromosome which is why Down syndrome is referred to as Trisomy 21 in the medical field.
I am not easily offended.  Some in the Down syndrome community find it offensive to say 'he has Down's' or 'he's a Down's'.  I do agree with the sentiment but I am just not offended because I likely said something of that nature before Will came into our lives or possibly about another disorder. 
I was once irritated when an older Audiologist was training a new doctor and while fitting him for the right ear piece she repeatedly said, 'he's a Down's, he's a Down's, don't forget he's a Down's', so that the new doctor would get a smaller ear piece.  Like I could forget!  I just wanted to tell her...he is not 'a Down's'...he is Will.  He has Down syndrome.  He is sweet and funny and stubborn.  He has more people that love him than you can imagine:)  He has clear, blonde hair and beautiful blue eyes and a smile that steals your heart.  He is not defined by Down syndrome.  He is Will...and he just happens to have an extra chromosome.

I will admit in the early days of Will's life I had to repeat this to myself often.  When I first brought my beautiful baby home from the hospital all I saw was Down syndrome.  So I kept telling myself that Ds did not define him, until one day I only saw Will.  I know it is hard for some people to see Will for who he is and not for his diagnosis since I did the same thing.  But Will is an amazing person and is not Down syndrome.  He is Will!

Down Syndrome is Not Only a Concern for Older Women

While the likelihood of giving birth to a child with Down syndrome increases with the mother's age, 80% of babies born with Down syndrome are born to women UNDER 35 years of age.  This is simply because younger women have more babies, but also because many women that test for Ds with TripleScreen because they are considered high risk, end the pregnancy because of the diagnosis.  So although women are not considered high risk for Ds or other disorders until after that age there is still a risk.  In fact most of the women and families in our support group are my age (33) or younger!