Jon's worms...

I had the chance to meet Jon this summer and learn first hand about his research...amazing stuff!  He will be speaking again this month in Austin as well.

http://www.dsrtf.org/document.doc?id=49

31 for 21 - Day 1..and no, I won't make 31 posts...

I'll never make 31 for 21 as evidenced by my lack of posting these days, but...I feel it IS important to be a part of "31 for 21!"  DS awareness month is October and our hope is that we can continue to encourage each other in our journey and meet new friends along this path of life!  A life full of richness and blessing!  Yes, it can be difficult, yes, it can seem unfair at times, but what 2 years has brought to our family has made us stronger and God's grace has been so evident!  Parker is a "typical" 2 year old, he's "in" to everything, never slows for a minute and is gaining new skills daily.  His vocabulary is up to about 40-45 understandable words (and a constant conversation all day long we don't always understand, but we shake our head and talk back smiling all the while). This week his new words are "grandpa" "keys,"and  "baseball"  very important at our house!  We are working on reading sight words and contemplating math next.  My Mom bought the dreaded "potty seat" although I must admit we haven't started that process just yet.  I've potty trained 3 kids already, not in a huge rush to start with #4..I'm secretly hoping that preschool will get him started, LOL. Parker has mastered the SRJ "horns and flutes" to everyone's dismay and can frequently be found directing the animals like the "pied piper"  25 blows sounded like a huge accomplishment when we first started, let's just say now the whistles just get louder...we are perfectly content with 5-10 blows...the party horns and harmonica type whistle are so shrill, not sure if those are meant to torture families?  Hard to capture him being still these days (unless he's sleeping), he's running everywhere, new favorite is walking on the curb like a balance beam outside..he thinks "chase" is the best game ever...anytime you are looking for a running buddy come on over! 

Lots of exciting research on the horizon, hoping this year during DS awareness month we can make a push to join together and fund some of these research dollars needed to help our kids.  They deserve to have the same freedoms and independence we all enjoy! Dancing and playing flute, oh so FUN!!!

Be blessed!

Goodbye Summer, Hello Fall!

Fall started with a cold front...ha-ha, we left the record heat of 106 to have low-mid 90's this long weekend, but honestly it DOES feel cooler!!!  Not ready to break out the fall clothes anytime soon, but today is a good day to reflect on the summer!  It has been a busy one, long gone are the "lazy, hazy, days of summer," I find myself a bit reflective wondering how maybe next summer we can capture those? It was a summer of baseball, theater (Madeline was in Wizard of Oz and summer plays, Annie and Willy Wonka), gymnastics, sleep away from home church camp (Mallory for the first time), and Parker made so many gains.  He turned 2 end of May, has now been walking for 7 months (he runs everywhere) and speech continues to come along(not nearly fast enough for me, but I'm working on that).  He never slows unless he is sleeping and we are all thankful he still takes a nap at this point!  Last week at therapy he shocked the OT, my mom was packing up, he grabbed the bag, and said "eat banana."  The proceeded to get the banana out and eat it.  We take this speech for granted, she was so thrilled. Not only was it a couplet, it was used at the proper time and in proper form, go figure this is a big deal?  The other thing he continues to do is know how to follow instruction, we tell him to "throw it in the trash," he goes to throw it away.  Unfortunately he likes to "throw it in trash," so better watch what is laying around (if it doesn't go there it goes in toilet to be flushed). He loves to blow bubbles and blow on his flute (SJR would be proud!) He will go to the back door, say "bubbles" and out we go.  He can use the stick to dip and blow no help needed. he has watched the girls hula hoop and loves to practice hooping himself. He continues to have excellent fine motor and feeding skills. Can use a fork and spoon to self feed (although messy) no issues and is coloring well by himself.  He can strap and unstrap himself in his carseat and highchair (not always the best skill for a 2 yr old in a moving vehicle). His new fascination is the door handle and the power window, good thing we have child locks!  He started preschool last week at our church preschool where all our other kids go (see my earlier post) and the other kids are almost a month into the new school year.  Having a 7th, 4th, and 2nd grader keeps my evening hours busy, homework takes a schedule as do keeping up with activities.  Not much time left to update the blog I'm afraid.  I do know this without certainty, our life has purpose, we have confidence in what we are doing to help Parker(and all the kids) succeed and it is working!  Medically speaking he is doing really well, no issues to speak of, his growth hormone results came back (he failed miserably, but we already knew that) growth hormone treatment started 11 days ago and he's already grown 1 inch!  He's physically strong, continues to be so healthy, no issues with sleep apnea or stomach problems (no ear infections, colds, etc..) and we are so grateful for God's goodness.  All his Drs are always amazed at his progress.  This is no easy task with his supplement, therapy schedule and neurodevelopmental plan for at home (aside from the countless Dr appts and other activities), but amazingly it seems routine.  I remember when we first started and it all seemed so overwhelming, not so anymore.  Guess one adjusts and when one sees results it becomes second nature.  Parker had his first haircut, amazingly as sparse as his hair is it has finally grown and needed a trim especially around the sides and back of neck. Sorry i missed the pictures of that, 4th child I'm afraid...He will start Little gym this week (one more place to run him ragged to try to tire him out, LOL) and who knows what else we will find to take part in.  Life is full, God is good, and we feel blessed beyond measure!  Some favorite pics from our summer that flew by!  XO

World Experts Meet in Cambridge to Discuss Treatments for Down Syndrome

For those of you that aren't aware, another fantastic opportunity to gather and hear the leaders in the field, I can't make it to Cambridge, but I am so excited for this opportunity. We expect great things from this symposium, if you are interested and need details email me and I can put you in contact with the host.

World Experts Meet in Cambridge to Discuss Treatments for Down Syndrome
The treatability of Down Syndrome is gaining evidence and support, but remains the "holy grail" for parents and doctors. A rare gathering of expert scientists will plan the next stage in human treatments for Down syndrome. The wider context of the impact on people with Alzheimer's with be discussed.
London, United Kingdom, September 01, 2011 --(PR.com)-- Rarely are such people all in the same room together, but September 17th sees the meeting of truly great minds in Cambridge at the Welcome Genome Campus. The subject they'll be discussing? Down syndrome treatments.
There are at least 30,000 children and adults with Down Syndrome (DS) in the UK and about 700 new babies every year. For years it has been thought that nothing can been done to help this group of people who face difficulties with learning and memory as well as increased risk of physical problems like congenital heart disease as a result of inheriting an extra copy of chromosome 21.
What has felt impossible by most has become a reality for scientists at the cutting edge of understanding genes and their interplay on the developing brain. "Let's define the genes that are responsible...and let's treat those genes," Dr William Mobley, Professor and Chair of the Department of Neurology at Stanford University, has recently said. He adds that hopefully "...there are two or three different targets that are very treatable."
The wider hope is that it will help everyone who develops Alzheimer's Disease, as all people with DS show brain changes of Alzheimer's.
The conference will be opened by Madam Jerome Lejeune, wife of the late Prof. Jerome Lejeune who dedicated his life to the discovery of a cure for Down Syndrome. His work continues at the Foundation Jerome Lejeune in Paris, with the support Dr. Mobley will be chairing the day and the aim of the gathering will be creation of international research alliances to speed this life changing work.
The conference has been organised by a UK charity, the Downs Syndrome Research Foundation UK, founded to get DS up the agenda for the researchers and the Government. Dr Elliott, the chair of the DSRF, concludes "We are at a crucial moment in the field and possibilities for the future are hopeful. Join us and see why."

Parker's First day of School!

Yesterday was Parker's first day at school. He's going to our church preschool where all 3 of our other kids went. He's starting earlier than they did, but we decided 2 days a week would be good for him and Grandma needs a few hours to herself!  Parker is running everywhere (as evidenced by blurry pics), loving and living life to its fullest.  No tears were shed yesterday as he went to class, for some reason I was slightly apprehensive about this decision, but God always delivers even in the smallest of ways!  We made a big decision to keep Parker with typical peers rather than send him to a segregated school for kids w/DS.  I have had peace since we made our decision, but had a few moments of creeping doubt until school started today.  His teacher has a 21 year old brother with DS, no, we had NO idea!!  She made the point to mention that Parker would not be treated any differently than the "typical" kids, what a relief!  The Spanish teacher at preschool also has a son with DS, funny, in the years we've spent at the school that never came up.  God truly orchestrates things long before our knowledge.  We are overdue for an update on things, but I'm running late today, so pictures will have to suffice.  Full disclosure here, these pictures are from the end of school day, as you can see Parker is a typical boy, a "dirt magnet," but such a cute one if I say so myself!  Love to all!

DSRTF Piece - 30 Minutes if you love someone with Down syndrome

DSRTF piece

If you love someone with Down syndrome, at any age, you need to watch this 30 minute interview with Dr. Bill Mobley to find out what's on the horizon with Down syndrome research. Your loved one's life could change significantly in the next few years.  Remember to STOP the media player below so the music doesn't interfere...

TAKE ACTION! CALL/EMAIL YOUR MEMBERS OF CONGRESS TO COSPONSOR THE "21 ACT" PACKAGE

CALL/EMAIL YOUR MEMBERS OF CONGRESS TO COSPONSOR THE "21 ACT" PACKAGE

Take Action!


Today, Representatives and Congressional Down Syndrome Caucus Co-Chairs, Cathy McMorris Rodgers (R-WA), Chris Van Hollen (D-MD) and Pete Sessions (R-TX),introduced the Trisomy 21 Act of 2011 or “21 Acts” package (HR 2695 and HR 2696). The 21 Act package includes two important pieces of legislation, the Trisomy 21 Research Resource Act of 2011 (HR 2696) and Trisomy 21 Research Centers of Excellence Act of 2011 (HR 2695).

The 21 Research Resource Act will expand and intensify Down syndrome programs of the National Institutes of Health (NIH) and the Centers for Disease Control and Prevention (CDC) to create an infrastructure of Down syndrome tools, including a Down syndrome contract registry, Down syndrome research database, and Down syndrome biobank. These research resources will further strengthen the research being conducted on Down syndrome across the country and better equip our research community with the tools necessary to facilitate their research. This bill also establishes a Down Syndrome Consortium with NIH to facilitate the exchange of information and make research efforts more efficient by integrating the perspectives of key stake holders.

The 21 Research Centers Act will create at least six Down Syndrome Translational Research Centers of Excellence that provide an optimal venue and infrastructure translational research on Down syndrome. The bill requires NIH to publish a research plan on Down syndrome, and update the plan every five years. This bill provides $6 million to support the Centers of Excellence.

FOR MORE INFORMATION
http://www.ndss.org/index.php?option=com_content&view=article&id=262&Itemid=143&limitstart=4


ACTION NEEDED

Please take a few minutes to call or email your Representative today to ask them to cosponsor 21 Act package! You can reach your Representative by calling the Capitol Switchboard at 202-224-3121. We have included both a script (below) and email/letter template to help you reach out to these offices. Please do not hesitate to contact me or Sara Weir (sweir@ndss.org) with any questions.

Regards,

Madeleine Will, Director of the Policy Center

21 Act Package - Script/Talking Points to Call Your Representative


ADVOCATE:


Hi, my name is __________. I’m a constituent from ____ (home town) ____. May I please speak to the Congressman/Congresswoman’s Legislative Assistant who handles healthcare and/or disability issues?


CONGRESSIONAL OFFICE:

Let me see if XXXX is available. May I ask what you are calling about?

ADVOCATE:

Sure, I’m an individual/parent of a child/adult with Down syndrome. I would like to discuss a bill, the 21 Act package (HR 2695/HR. 2696) that is very important to our family.

CONGRESSIONAL OFFICE HEALTHCARE / DISABILITY LEGISLATIVE ASSISTANT:

Hi, this is XXXX, how can I help you?

ADVOCATE:

Hi, this is ___ (your name) __ from ___ (home town) ____. I’m an individual/parent of a child/adult with Down syndrome. I would like to discuss two important bills that make up the 21 Act package (HR 2695/HR. 2696. I am calling to ask my Representative to cosponsor this bill led by Representatives McMorris Rodgers (R-WA), Sessions (R-TX), and Van Hollen (D-MD).

The first bill, the 21 Research Resource Act, will expand and intensify Down syndrome programs of the National Institutes of Health and the Centers for Disease Control and Prevention to create an infrastructure of Down syndrome tools, including a Down syndrome contract registry, Down syndrome research database, and Down syndrome biobank. These research resources will further strengthen the research being conducted on Down syndrome across the country and better equip our research community with the tools necessary to facilitate their research. This bill also establishes a Down Syndrome Consortium with NIH to facilitate the exchange of information and make research efforts more efficient by integrating the perspectives of key stake holders.

The second bill, the 21 Research Centers Act, will create at least six Down Syndrome Translational Research Centers of Excellence that provide an optimal venue and infrastructure translational research on Down syndrome. The bill requires NIH to publish a research plan on Down syndrome, and update the plan every five years. This bill also provides funding to support the Centers of Excellence.

CONGRESSIONAL OFFICE HEALTHCARE / DISABILITY LEGISLATIVE ASSISTANT:

I will let my boss know that we talked and make sure that he/she takes a look at the bill.

(Note: When you talk to the legislative staff, you are likely to get the response.)

ADVOCATE:

If your boss is interested in signing on as a cosponsor, you may contact:
Kim Betz (kimberly.betz@mail.house.gov or 202-225-2006) in Representative McMorris Rodgers' office.

Thank you for your time. I hope your boss will consider cosponsoring this important package of legislation. May I get your email so that I can follow up with you on this issue? Thanks very much!




If you are not on the NDSS action alert email list and would like to receive these alerts and information bulletins, please subscribe at: http://capwiz.com/ndss/mlm/signup/