Down Syndrome Registry and Biobank

Wednesday, 2 October 2013

Two years ago I blogged about the NIH requesting feedback on a proposed Down syndrome registry and biobank.

Last year I shared that the NIH was indeed establishing a National Down Syndrome Patient Registry.

This NIH patient registry, called DS-Connect, is now live. Families can now sign up with the registry. You can share as much, or as little, information as you want.

This registry "...will facilitate contacts and information sharing among families, patients, researchers and parent groups."

How this registry can be used:

For professionals - Researchers, clinicians and other professionals can access de-identified aggregate data to identify target populations for study or trial planning or recruitment.

For families - explore the information you and others have provided to learn more about Down syndrome and its impact on other community members.

DS Achieves put out this statement of support about the new registry, "a resource for connecting researchers with families and self-advocates willing to participate in research and clinical trials. Called “DS-Connect,” the NIH Down syndrome registry will also help researchers improve our overall understanding of DS as a condition with the health histories, symptoms, and diagnosis information that families voluntarily provide.

For decades, DS researchers have lacked commonplace tools and capabilities necessary to advance their work to the next level, including a national DS registry. Without them, we can’t move from basic research to clinical trials to drug therapies or best practices that can meaningfully improve the quality of life for people with DS."

DS Achieves created the ONE21 campaign with the vision "to fund the development of a dedicated and centralized DS biobank that will be open to all DS researchers, regardless of institutional affiliation. A biobnak will go a long way toward advancing the science of DS faster, making therapies and best practices available sooner, so our lovved ones with Ds can live healthier, happier, and more vibrant lives."

You can join the ONE21 community to stay up-to-date on the creation of a biobank.

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Daily's Puts a Smile on My Face

Easily one of my most favorite things about growing up has to be the freedom to legally drink, am I right? I mean, on any given occasion my girls and I can get together for ladies night and get our drink on, which is, admittedly, one of my favorite kind of nights. Great music, great people, great drinks. Yeah, that's exactly how you can put a smile on this girl's face.

A few nights ago, while Erin was here, I decided to put together one of these little shindigs, complete with pizza, Daily's Cocktails, with a little mood music from Sidney York (Which Erin happened to love because she continued to relate the Sidney part to Finding Nemo.). Let me tell you, the night did not disappoint, even if we had a little extra company from our boyfriends by the end of it. Ladies, if they're cute enough (Like ours, of course.) it's totally ok to let them occasionally crash the party, I say.

These Daily's Cocktails totally made the party because all you have to do is take those bad boys out of the freezer, run them under warm water while inappropriately (If you're me.) squeezing them for about as long as it takes to think of an equally inappropriate naughty joke. The best part is that the alcohol is already mixed in so you don't have to go and find yourself a bartender for your party... well, unless you want to be like us and add in a little extra liquor for kicks. You know I don't do anything half-assed.

Just thinking about these pouches right now makes me want to take a cooler full to the pool this weekend and sip on one of the amazingly delish tropical flavors while getting my tan on. Daily's Cocktails come in 13 different flavors so don't be surprised when you're standing there in the store scratching your head, trying to figure out which flavors you want to bring to your party. My personal favorites have to be the tropical flavors which are Pina Colada, Hurricane, Blue Hawaiian, and my number one pick the Bahama Mama.

Erin's favorite was Peach Daiquiri!

Be sure to check out Daily's Cocktails on Facebook and Twitter, then let me know which flavors you want to bring to your next ladies night for a chance to win a $100 Visa gift card!

Sweepstakes Rules:

No duplicate comments.
You may receive (2) total entries by selecting from the following entry methods:
a. Leave a comment in response to the sweepstakes prompt on this post
b:Tweet (public message) about this promotion; including exactly the following unique term in your tweet message: "#SweepstakesEntry"; and leave the URL to that tweet in a comment on this post
c: Blog about this promotion, including a disclosure that you are receiving a sweepstakes entry in exchange for writing the blog post, and leave the URL to that post in a comment on this post
d: For those with no Twitter or blog, read the official rules to learn about an alternate form of entry.

This giveaway is open to US Residents age 18 or older. Winners will be selected via random draw, and will be notified by e-mail. You have 72 hours to get back to me, otherwise a new winner will be selected.

The Official Rules are available here.
This sweepstakes runs from 10/2/2013-10/31/2013

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"Soap Box And Ceiling"

Tuesday, 1 October 2013

"Soap Box And Ceiling"

Personal enough to ask off this ride,
Thoughts seeping out that I usually hide.
Call it pride and say that you're over it
And I'll still air it out until I'm over with.
I'm years past done with concealing.
These days, with pen in hand
If I'm sitting alone, just say "He's dealing"
And abstain from future page peeling.
Lord knows I've done my fair share anyways.
Paranoia settling in on my bad days
When I refused to talk but had words to say
While you were busy working on a new display.
That's when stomachs start churning
Over discoveries concerning
people I wouldn't grab the hose for
If I were there when they were burning.
Learning the extent of interaction:
Actions motivated by ill fated passion.
The traction it provides is deadly.
So I shy away if you previously led me.

Desire the provider
For those fashioned as liars
And the cloak will itch
And the eye will twitch
And the lip will quiver
And it will deliver.
Eminent acceptance against futile resistance
complete with quarters closed around distance.
All in the feelings,
Months since the reeling
And the last thoughts before rest
Hang from this ceiling.
My reflections clumped together
Reminiscent of wet tissue
bring me to a point
where I begin to examine every issue.

Is it honestly a trust issue
If I only trust God?
What about the lust issue?
What if fate just missed you?
What if faith isn't enough?
Does a wraith appear and such;
Telling us to go ahead
Just because it's getting rough?
Is there something rude about fortitude?
I have so many questions
And even though we earn the answers,
we never really want the lessons
Until forced to face depression
and hardship borne of transgression.
Truth will run rampant like infection
Through those trying to avoid detection.

A grain of salt for those
Who "know that I won't get to Heaven."
Can't hide their faults;
Especially if they know nothing of number seven
And we're all far from completion,
But we love to compete when
Questioned about our faith.
No challenge or dire straights.
Not rubbing it in your face.
Not stating any demands.
Not looking to alter plans.
Just wanted to understand
How things that affect the family
And eventually the home
Can lead to headline tragedies
when some are left alone.

Some couples still feel alone:
Married by tradition
But marred in their willingness to spar;
Steeped in their war of attrition.
Recalling times when I would listen
To words from family members.
I wondered if they were still smitten
Or if their hearts were ever tender.
Aunt would say she wants
a man that stands strong
But turn around and disrespect
any man that chose to stand alone.
Uncle fashioned himself
as a king upon his throne
but if womanizers rule,
one would section off his zone.

I see a little of myself in my relatives.
Some of it I'm proud to have.
The rest I'd love to give back.
Struggled to keep myself intact
But I'm demure amid my peers.
Learned to conceal fear
And absorb those tears
Before I grab my gear
And I think but never look twice
When it comes to my vice.
Agitated but speaking nice
When friends ask me for advice.
I'd like to reciprocate.
I want that shoulder to lean on;
But when treated as magistrate,
it gets hard to acknowledge peons.
Not peons for my means of advancement
But for their willingness to ignore
What I swore I said before.
Do you listen anymore?!
Do you care that I implore
or just like to hear me talking?
If I reach deep in your core,
then I'm sure you'll just start walking.

I've got more to say.
Kept my ink pen steady.
Just open up a window
if the atmosphere is heavy.
The air is thin and therapeutic.
Listening to music and breathing hard
Both from my lack of oxygen
And because I'm thinking hard.
Swore I'd never play this song again.
Barely friends. Just some things.
Can't remember when. It was just a fling.
I can't eat these lies.
Eyes well and my heart still swells.
Some days in paradise are pure hell.
Our past in my face with a fast pace
Grazed with grace and I can still trace
Every single moment.
Sitting here alone with
Contrition and atonement
That I wish you would've given.
Don't know how much is forgiven
But at least we're both still living.
Privy to precious moments in divinity
And our favorite unspeakable obscenities.

That's what remains of our memories.
Two pages in and I'm lost again.
Might just take a break
And pick up the pen after.
Documented the smiles
And reminiscences over laughter.
Went through all the wiles
And anger that I've splattered.
I'll keep this book open.
I need to add some chapters.
A clear vision of the sky
Hangs high above the rafters.
If the ceiling is made of glass,
Then it will surely shatter.
Just sit my notebook to the side.
I still have some life to gather. †

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Written By: Devin Joseph Metz

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Blogging Is Like A Time Machine

I'm currently sitting at my desk, chowing down on leftover skinny chicken pot pie I made bear and I for dinner last night, compliments of the brilliant Kelly from Eat Yourself Skinny. If you want to impress your man's tastebuds, go ahead and make this delightfully non-fatty meal for dinner tonight. Thank me later, I know you will be. Hashtag omnom. Hashtag someone's getting lucky tonight. Hashtag heyyoo.

Yesterday after work I went straight to bear's to help him finish moving out of his apartment. We ended up moving until about 10 at night which, if you've ever moved in your life (who hasn't), you know is just relentless and horrible. Speaking of moving, I just renewed my lease at the Princess Palace for another year. Can we talk about how absolutely insane it is that I've already been there almost a year? I feel like I was just getting the keys and signing my life away to a lease I was 110% unsure how I was going to afford. Somehow I've made it work for an entire year so, that's pretty neat-o. Two for you, Whit Coco. You budget diva, you.

It's actually kind of crazy, now that I'm sitting down thinking about it. A year ago I was in pretty rough shape. I was staying at my parent's house more than I was at my own townhouse because I was growing to hate the person I was living with so much. (That person was the douche canoe featured in this post, if you need to be caught up to date.) My heart was in a constant state of denial, trying to make something work that just kept getting worse. I was broken and constantly hurting.

Never in my life could I have predicted that just one year after I wrote this insanely vague post, which followed one of the worst weekends I've ever experienced, I'd be happier and more over the moon than I've ever experienced in my life. With my best friend, to boot. Well played, life. Well freakin played. I don't hatecha.

I asked bear if he thought a year ago, when he was moving into the apartment we just moved him out of, that I would be the one next to him, loading his lamps into the back of my little SUV. He told me he figured he'd still be single and never expected to be in a relationship at this point in his life. Especially with me, of all people, but he's so glad he was wrong in that prediction.

It's still sinking in that this is real life and no amount of pinches are going to wake me up from it.

On a complete, and last, side note. Blogging is, if nothing else, so insanely awesome because I just got to sit here and relive exactly where I was in my life a year ago and realize just how amazing things are right now, in this moment. I feel really lucky.

I also don't know how this post about chicken pot pie ended up turning into a sapfest but whatever, I was just rolling with it. The me from a year ago would have just barfed all over this post.

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Story Behind The Picture

When we went to Disney last month one of the restaurants we ate at was the Biergarten Restaurant at Epcott.

They have "communal, biergarten-style tables" and you're asked if you mind being seated with another party. We didn't mind and we were joined by another family of four who had two boys about the same age as my kids. And, coincidentally, the husband has a brother who has Down syndrome. Neat little connection that we were seated with that family!

This restaurant also has a live band and a dance floor. We were seated right next to the railing that circled the dance floor. The first opportunity there was to dance I told Kayla she could go out on the floor to dance; she was more than happy to be able to do so.

I tried to get a picture of her and managed to get this photo as the lady in the background went down. She went down hard; hit her head hard.

Kayla came back to the table and she was very concerned about the lady; kept glancing over to see if she was up yet, kept saying she didn't want her to go to the hospital ("no hospital, no blood!"), she was worried for her.


She was down for quite a while with different people checking her out (security and medical). She was down for so long that when she finally got up people clapped for her as they do when an athlete is injured. I was surprised she wasn't being escorted out on a stretcher or wheelchair since she was down for so long.

We continued on with our meal and eventually the band started up another round of songs. Kayla took off for the dance floor but was back sooner than I expected. She told me she 'gave a girl a hug.' I usually play 20 questions with Kayla to try and get the whole picture of what she's trying to tell me.

"You gave someone a hug?"
K: "Yeah, the girl."

I turned to look at the dance floor to see what kids were there, but there weren't any. I tried asking her again about who she hugged and she finally gave me a better description.

"That girl fall, I give her a hug."
M: "You hugged the lady that fell down?"
K: "Yeah!"
M: "The lady that fell down on the floor over there? You just went over there and gave her a hug?"
K: "Yeah, I hug that lady."
M: "Where is she?"

She pointed across the floor to the other side of the railing where there were tables and I scanned the diners sitting over there ... and sure enough ... the lady was sitting at the table. I knew Kayla had been concerned for her but I didn't know she paid that much attention that she would be able to pick her out of a crowd.

I told Kayla how nice that was of her to give that lady a hug. A few minutes later Kayla and I walked to the buffet to get dessert and on our way back she wanted to bring me over to their table and show me the lady that she hugged so I could see that she was ok. I still wasn't 100% sure if Kayla did what she said she did.

An example of why I don't always believe her: yesterday I asked if she went to the library at school (yes). So you returned your 2 books? (yes). Both of your books - Bobby's Zoo and Snow Day - you returned to the library? (yes) And you got new books? (yes). When I opened her backpack Bobby's Zoo and Snow Day were still there.

So I asked this lady if Kayla did in fact come by her table and give her a hug and she confirmed that she did and she was really touched by it.

Lesson from my daughter: Sometimes it's ok to hug a stranger, because sometimes they really need a hug. 

My kids closed out the night with some more dancing:

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