Tuesday, October 1, 2013

Would you want to take away being a lefty, Vivianne?

There is so much in the news right now about new Ds research and turning off the extra chromosome. I have so many mixed feelings about this news - some high hopes and some huge reservations.  I don't have any linear thoughts, so instead decided to share the drips and drabs of things I've been thinking as I process the news.

What happens in 10 years? I once read a wonderful article in Oprah magazine that has really become a cornerstone in how I look at the world when I am making decisions.  It is the Suzy Welch's 10 10 10 rule.  I'm thinking quite a bit about where this science is going, and how it might impact me and more importantly Violette in 10 minutes, 10 months and 10 years. 

The haves and the have nots.  Will treatments be expensive?  Will we see individuals who can't afford to participate? Will we see individuals forced (or strongly encouraged) to participate if they are on government assistance.  Will that assistance disappear?  What happens if some parents and individuals with Ds choose treatments, while others don't?  Will those individuals who don't get treatment face additional social stigma? Even with those treatments, will our children face prejudice? But will that prejudice cut them more deeply with the added cognitive reasoning they might have? 

Cool thought. Wouldn't it be cool if someday, scientists could take stem cells from Violette, turn off the extra chromosome and print a new heart for her without the effects of the 3rd copy of the 21st Chromosome on a 3D printer?  You know, a heart without a cleft in its mitral valve? Go manufacturing! Go geneticists! What an amazing breakthrough that could be.  Also, will the technology allow us to silence the chromosome in the cord blood and use it for a bone marrow transplant to treat the child's leukemia?   I can think of a myriad of other amazing things that could enhance the lives of individuals with Ds based on this research.  

Would you take away your genetic variance? I've been thinking a lot about my bald friends, my overweight self and friends, my left handed child and my gay friends (that list can go on and on, of course, but those folks have been most on my mind.)  Would they take their variance away with a magic wand (or magic pill?)  Would they take their children's variances away?  Vivianne has said NO WAY would she not want to be a lefty, in spite of the fact that she complains about being a left handed girl in a right handed world. How is Down syndrome the same and how is it different? I've been contemplating that.

Impact.  If I increase my child's ability to do math, improve her memory and chemically alter her capabilities for "higher reasoning" how will that change impact her happiness? Dr. Skotko's research shows that the vast majority of people with Ds are quite happy - and from my personal acquaintances with adult people with Ds, I believe that to be the case. So is the increase in what conventional wisdom says is valuable in terms of intellect a fair trade for a possible diminished life happiness?

Self Determination.  A lot has been in the news about Jenny Hatch and her right to have input on where she lives.  Will we respect our children - including our adult children if we are their guardians - and view it as their right to determine if they want to participate in research and/or a "cure?" Or will we impose our perspectives on them in hopes of something "better" from our purview?  

Having my cake and eating it too. Would it be possible to turn off the parts of the 21st chromosome that can cause challenges in memory, reading and math, hearing loss, and heart conditions while keeping the beautiful Brushfield spots, the creamy soft skin, the candor, and the spunk.

Side effects. What side effects might silencing the chromosome cause psychologically, physically, emotionally, etc.? 

Secondary conditions.  I've heard that the rate of Autism is higher in individuals with Ds, and there isn't a clear cut reason why.  Would turning off the extra chromosome take that away? Would they want to take it away, because many people with autism appreciate their unique identity too?

One syndrome, or many? I keep wondering if geneticists will eventually determine that what we consider one syndrome right now should really be considered a multitude of syndromes with many different variances.  At one point, breast cancer was thought of as one solitary thing, but as the tumors were looked at and analyzed it turned out there were many different types of cancers and those responded differently to different treatments. When I look at the wide range of impact the extra chromosome has on individuals in terms of health, speech, and cognition, it seems like there are bits and pieces that express (or don't express) that might benefit from research to turn off and target the parts that cause difficulty.

She'd still always have Down syndrome.  No matter what advances come from the petri dish, Violette will inevitably still be a person with Down syndrome. Silencing isn't the same as erasing. 

Start solving the mysteries!  I am probably equally excited and apprehensive about the big breakthrough.  In terms of day to day life, I'm also excited  about a project that Lito Rimerez has been working on in Columbus.  He has been quietly working behind the scenes assembling a team of Midwest hospitals and their experts on Ds to lay the groundwork for a Down syndrome Biobank.  You can read more about the work of Ds Achieves and their One21 campaign here.

Monday, June 24, 2013

Down Syndrome Pregnancy: Help Throw a Lifeline

"Bad news.  You have 1 in 16 odds for Down syndrome. Only way to know for sure is amniocentesis.  You can call to schedule."

With those words, spoken by my perinatologist when I was 13 weeks pregnant, I found out that my life might change - what I considered at the time - dramatically.  If my pregnancy took place today, I most certainly would have taken a non-invasive prenatal screen blood test (technology that was not on the market 6 years ago), and I would have found out with a great deal of certainty, that Violette, my much loved and wanted 3rd daughter, had Down syndrome.

I know how scared and alone I felt with the higher risk.  I kept the news of my increased odds mostly to myself, with very few exceptions.  I think four other human beings knew (well, and The Best Mom's Ever - my friends from my October 1999 birth board as documented here) during my whole pregnancy, other than my OB.

When Violette was born, I was bowled over with grief (even with the time to prepare.)  I felt woefully inadequate to raise this unicorn in a field of horses - especially as an old grey mare.  My lifeline came in the form of other mothers with children with Down syndrome - they were the ones who knew just how to pull me back into the world of the living.  Nancy Iannone, blogs, like Big Blueberry Eyes and The Bates Motel that spoke about children just a bit older than Violette, and books like Gifts all pulled me out of my stupor and showed me what a meaningful and good life I could have.

In the days after Violette was born, I remember in my massive, crazy research I happened upon the Lettercase booklet.  I remember wishing that I had seen these materials when I was pregnant, and marveling at the pictures, and carefully chosen words.   The information in the booklet was the best I found.  I found comfort in looking at the booklet and reading those words in the weeks following Violette's birth.  No other organization at that time or since then had anything available that was even close to sharing the vision of hope mixed with realism that I had for my life with a child with Down syndrome that I found in that booklet (medical doctors and geneticists apparently agree with me - the booklets are often cited in research papers as the gold standard for materials for pregnant women who need to understand what a Down syndrome diagnosis means.)

Amazing also to me is that almost 6 years to the day after I became a mother of a child with Down syndrome, I can share a way to insure that other women, upon hearing that they are (or may be) having a child with Down syndrome get that booklet at no charge. 

Sevenly, sellers of cause and charity t-shirts and products,  is donating a portion of their proceeds from sales this week to Lettercase.  The products on the site are cool, affordable and support a cause that is near and dear to my heart.  I believe that accurate, up-to-date information should be given to every woman who learns they are having a child with Down syndrome.  Judgment words like "Bad News" don't belong in the discussion.  If you purchase a product from Sevenly, you help throw a lifeline to scared moms

Click here to view all of the cool products that they offer.  Thank you!

P.S.  Probably going to be a flurry of blog posts from me. I want to write about DS Achieves and the great work they are doing, and have to update on Wednesday about Violette turing SIX!!!  May even start posting some of the many draft blog posts I have sitting out in Blogger. 

Sunday, May 26, 2013

Businesses Owned By People with Down Syndrome

Here is a list business owners who have an extra chromosome!  I add new ones as I learn about them!

Please comment with any other ones that you know of!

Michael Johnson is a very accomplished artist who has DS. You can order prints, cards, and even original paintings at very reasonable prices from his website. http://users.psln.com/sharing/Michael/mainMichael.html

Dlyan has a store on his web site

Simply Adorable Blankets 

Creekside Cookies and more is the other company http://www.creeksidecookiesandmore.org/

Waggies by Maggie

Group Hug Apparel

Poppin' Joe's Kettle Korn

Artist Michael Jurogue Johnson

Author Kellie Greenwald

Author Connor Gifford

Artist Cinnamon Edgar

Eric and Megan's card business

Artist Dylan Kuehl

Glass Artist - KK

Artist Lupita

Postcards by Tom Eisenger

Sorting, stuffing, childcare and shredding

Artist with a variety of merchandise


Brandon shoots and sells photographs 


Lindsey has her own jewelry business called: Lindseymade Originalswww.lindseymadeoriginals.com 

Coffee for sale

Another from a great self advocate we heard in Orlando! 

Rebecca is presently scanning all of my old videos!

Find her on Facebook at PSB Cubed-Photo Scanning Business by Becca.

Lisa Signs with musical artists!


Allie Art - Beautiful Artwork by Allie Guard


Author Megan Abner

Artist Katie 

Clothing for women with Down syndrome by Ashley By Design:

Imperfect Creations

Anna's Card Kits - Greeting Cards


Emma Lynam Shredding!


Meg has a business with Unique hand crafted products.


Gracie sells the healthiest dog treats you can buy. Made with one ingredient, freeze dried USDA inspected meat and nothing else. No additives ever. Your dog wants to become a G-Dog and Gracie is ready to pack up your order.


Amazing all of these talented people!