Come join us February 17th for Gavin’s Groupies Bunco Night.  It’s our only Bunco night for the whole year!

Don’t want to come, because you don’t know how to play?   You can learn in five minutes, it’s super easy.  We will teach you.  If you can roll dice, you can play Bunco!

We will be in the Banquet Room at El Prado Golf Course, in Chino.  We will have raffle prizes, Gavin’s Groupies merchandise, there’s a cash bar, and your $40 includes all appetizers and 1 raffle ticket (and also a guaranteed good time).  The best part, your $40 is going STRAIGHT to Gavin’s Foundation!

A night out AND supporting a cause that is fighting to find a cure for Leber’s Congenital Amaurosis (LCA).  Win Win!

We give out CASH prizes to the person with the most buncos, most wins, and biggest loser.  Our cash prizes depends on how many people show up, but previously we gave out $400 to each one (a total of $1,200).   Come and bring a friend, help share our cause.  We rely on our friends of friends to help spread the word, and possibly bring a cure for Gavin, and others with LCA.  So thank you for your help!

We still have table sponsorships available.  Please email jen@gavinsfoundation.org for more details.  Our new sponsor program this year, is we are advertising all our sponsors on our website for the entire 2012 year!  There are some more perks with this particular sponsorship, so please let us know if you are interested.

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THANKS TO OUR SPONSORS, WE ARE GIVING AWAY 3 BUNCO TICKETS (value at $40)!

Rules:

1.  Leave a comment on this blog post (not Facebook) that you would like to go to Bunco

2.  ALL we ask is when you do, you share how many people you shared this link/flyer with (via email, FB, etc.)

3.  EX:  Jennifer Stevens wants to go to Gavin’s Groupies Bunco, I shared to my email list of 10 people and on my FB wall.

4. THAT’S IT!  I will pick the 3 winners on Sunday night (using random.org)

5.  Honor system guys! 

1 comment per person, Good luck!

….that was a sneak peek.  I will update this week with more.

Let’s just say the weekend of January 27-29 was a turning point for our little non-profit.

Pics, info, and a dollar amount that was raised will be posted soon.  Please stay tuned.

Let’s just say, we’ve never seen compassion on this level.  Ever.

“Alone we can do so little; Together we can do so much” ~ Helen Keller

Gavin loves all types of music.  He is drawn to the piano, loves country and hip hop.  We listen to lots of classical, bluegrass, and anything we can expose him to, so he can find his interest with different types of instruments, etc.  If you know Gavin, you know he is constantly singing or humming.  He requests “LA LA LA” at least 30 times a day (not exagerrating).

(I will explain what LA LA LA is in a second.)

If I put a song on my phone, he says, “No, I want LA LA LA.”  If Landon or Troy attempt to put a song on that they want to listen to, heaven forbid we like to listen to other songs, Gavin of course chimes in and says “No, I want LA LA LA!”

You get the picture.

Well, along with the singing of this particular song, he does what we call spinning.  He is doing less of it as he gets older, but he spins in circles.  Spinning while singing “LA LA LA” is something that he does many, many times a day.  He mumbles the words, his feet do the same movement, he pauses in the same spot… it’s just part of who he is, and what he does.  We know this song very well, and am honestly quite sick of it!  LOL I feel like I sing it in my sleep.  Looking back now, because Gavin has been singing this song for over a year, I don’t really know how he got started with liking it so much.  I do believe he really enjoys the beat, and it just S.T.U.C.K.

A few days ago, Gavin was singing, and we started singing the song in Gavin’s words.  Not knowing what we were singing, because we just sing it the way he does!  Some words are clear, others are all run together.  Troy stopped and said, “We’re going to figure out what you’re saying, Gavin.  Let’s look up the lyrics.”

He did.

And today, I still can’t get it out of my mind.  It’s one of those things that really makes you go, hmmm.

Doesn’t seem like a biggie, unless you really think about what my son is saying.  My son, who lives in a world of darkness, with no color, no light.  These are the words he says many, many times a day.

“I feel like I just seen the sun for the first time.”

It’s the first 12 words of the song, LA LA LA by LMFAO

12 words that now I can’t get out of my mind.

Our official team page is up for this years VisionWalk.  You can go here to sign up to walk with us on June 2, 2012.  Please save the date for this very great day!

We are super excited this year we will be at Angels Stadium in Anaheim.  Part of the actual 5k walk, will be ON parts of the inside field.  We are super excited for this, and this new location will just add the already inspirational day that will unfold.  It’s always great to be with others whose journey is similar to yours, with others who have a common goal for either themselves, or their loved one.

As you all know, the Foundation Fighting Blindness, has been our shining light the past few years.  We found FFB days after Gavin was diagnosed with his blinding disease, LCA, and they have been the support we need to keep moving forward with hope and our arms around each other!  I’m blessed to be a part of the Orange County chapter board, and be able to work alongside individuals with the same passion as ours.  We are not trying to gain anything out of this, other than to help be a part of the bigger picture, which is a CURE for ALL retinal diseases.

We are also very excited to be the Family Walk Chair again for this 2012 VisionWalk.  It means a lot to be integrated so closely to VisionWalk, and being the Family Walk Chair, adds another layer of inclusion to a great organziation.

I hope you will all mark your calendars, and join us for a few hours on June 2nd.  Bring the family, kids, dogs, strollers, everyone!  There will be food, and fun activities for the kids, and a great 5k walk to show your solidatary support for Gavin, and all the other many people who are stricken with a blinding condition.  The walk is casual, and you can stop at any time, it’s not a timed race.  And the best part is, it’s free!  Yes of course you can donate if you would like, but the biggest support is having you there with us!

We will also be ordering new Gavin’s Groupies shirts for this years walk.  If you will be walking with us, please also email me (jen@gavinsfoundation.org) with your shirt size (and others in your group), so we can make sure you have a shirt!  The shirt is a thank you for your participation in VisionWalk, we will not be charging for the shirts.

Thank you for visiting Gavin’s Groupies teampage and registering yourself for VisionWalk 2012!

If you find the website difficult to add yourself to, please just shoot me an email jen@gavinsfoundation.org, and I will register you and your group to our team.  Thank you!

It’s Valentine’s Cookies For a Cause time again, courtesy of Gavin’s Grandma’s Cookies!

Last year we baked nearly 2,000 cookies.

WOW!

This is a fundraiser for Gavin’s Foundation, to help us raise money for research for Leber’s Congenital Amaurosis (LCA).

They are ALL HOMEMADE by Gavin’s Great Grandma Alice

In addition to Grandma’s Famous Molasses cookies (below)

We have also added Grandma’s Wonderbars (they honestly taste like a resses peanut butter cup)

They are DELICIOUS!

So you have an option of either type of cookie, or mixed (6 of each)

This is a fundraiser for Gavin’s Foundation, specifically for Valentine’s Day.

Each order will be packaged in groups of 3 or 4 in cellophane to seal in freshness.  They will have a Valentine theme decor, and a Valentine Gram that you can customize (personal greeting for recipient)

$7 dozen (for pick up in Chino/Chino Hills) OR $10 dozen (if shipped or delivered)

100% of proceeds will be donated to Gavin’s Foundation.

To order please send an email to jen@gavinsfoundation.org and include the below:

1. How many dozen and what kind of cookie (Molasses, Wonderbars, or MIXED)

2. Will you be picking them up, or will they be shipped/delivered locally?

3. What would you like your Valentine Gram to say?

Order some cookies for yourself, your loved one, children, spouse, etc.

Everyone loves cookies, especially when the proceeds are benefiting a wonderful cause!

Important Dates:

If orders will be SHIPPED, we will ship on Saturday (2/11) to ensure delivery by (2/14)

If orders will be DELIVERED we will deliver locally on Monday (2/13)

If you would like to PICK UP in either Chino/Chino Hills, your orders will be ready to be picked up any time on 2/13 or 2/14.

THANK YOU FOR YOUR SUPPORT!

** Our cookie fundraisers are an ongoing fundraiser for $5 doz (year round).  We just ask for 5 dozen minimum.  The extra $2 for our Valentine orders is for the custom Valentine gram, decor.  You can email jen@gavinsfoundation.org at any time during the year to order your cookies.

I saw this video on Facebook, from another LCA mommy. I was nothing but completely BLOWN AWAY. The parts where she stressed this would work for the “blind retina” even with “dead photoreceptors”, had me fascinated with what I was seeing unfold in front of me.

I was moved so much, I emailed her!

She replied!

Dr. Nirenberg informed me this would be something that would very much possibly work for Gavin. They are about 2-3 years away from human trials, due to the FDA guidelines, that we are all too familiar with.

Anyway, take a peek. It’s fascinating! I remember reading an article about this last year, but I didn’t realize how different this technology was from the standard prosthetic that is available now, until I saw the video.

Let me know what you think!

We want to thank everyone who participated in our Holiday Cheer Fundraiser braille ornaments.  We raised hundreds of dollars for Gavin’s Foundation, in such a short amount of time.  It was great to have a fundraiser during the holidays, next year I will plan to get started much earlier.

We also had some alternative gift giving come through again, which is always so amazing to me!  I appreciate everyone who helped to support us during this busy holiday season, and with so many non-profits to choose from, we are grateful you continue to think about Gavin’s Foundation.

We had over $4,500.00 in straight tax-deductible donations come in the last few weeks of 2011 (NOT counting our alternative gift giving or the braille ornaments)!  We cannot say thank you enough!  We are very excited for 2012 and Gavin’s Foundation… there are some exciting things in store.  Personally, I’m also excited for many things that will be coming our way in 2012.  The past few years have been somewhat difficult emotionally for our family for various reasons.  We are ready to anticipate the new year with open arms.

Onto other news, who else has a child who is blind and is/was obsessed with doors?!?  House doors, sliding doors, closet doors, car doors, refrigerator doors… anything that has a hinge and a door attached, Gavin is instantly drawn to.  Gavin associates people’s houses by what type of door they have.  Not kidding!  Ex: Grandma Alice has a big screen door that makes  a lot of noise, so when we say we are going to Grandma Alice’s, Gavin’s natural reply is “Going to Grandma Alice’s to play with the big screen door” and he gets overly excited (because he LOVES this door), and can’t stop talking about it.  Everywhere else we go, he has the same association.  There are a few local restaurants that he likes the door, and we (Troy and I) have to have a complete game plan before we even go, so we don’t have a complete meltdown mid meal.  It’s that bad at times.  We have walked out of restaurants because of the door, and typically get seated far from a door.

Here’s Gavin Christmas evening, at our families Christmas Party.  We joke all the time that “the babysitter” is the door.  “Where’s Gavin?”, I ask… Troy replies “With the babysitter.”  He can open close it with precise timing for many, many minutes at a time.  This particular time, I was able to eat my entire dinner, knowing he was with the babysitter.  The babysitter is cheap, gives Gavin his full attention, but just makes a lot of noise.  I’ll take it.

His favorite restaurants aren’t associated with the type of food they have, but what kind of door they have.  If you have a boring door, one that doesn’t make noise, or is difficult to open, chances are Gavin has no interest.  Of course this is the restaurant we want to eat at, even if they do have a C rating.  Maybe.  It means a full sit down meal, without talks about the darn door.

I have talked to a few other parents who have children who are blind, and others have expressed the same interest (about doors) applies their child.  I am completely fascinated with his interest.  Each time we get in the car, we have to have a prep talk with him that goes something like this “We’re going to do the car door one time, then we are all done, and we are going to go to the store.”  We have to explain how many times he can shut the door (of course with our guidance), and if you need to hurry and run into a store… GOOD LUCK!  This door phase has started months ago, and he hasn’t eased up yet.

Onto another situation, Gavin gets so frustrated when he runs into something.  I can’t imagine his frustration, and it makes me sad/angry about his blindness at these moments.  He can have his bumpers up and out (his hands out while he’s walking), but he still can run into something, even times face first to the corner of a wall.  I know bumps and bruises are all part of growing up, but this is different than when Landon would get hurt by the typical toddler stuff.  I think part of it, he gets startled and scared, then he feels the pain, then he gets frustrated and cries.  There typically is no consoling him, then he starts hitting his head with either his hand or he will bang his head against the wall/door/whatever he is near.  This doesn’t happen all the time, but it does happen.  We try redirecting, and don’t make a big fuss about it, but I can’t help but cry inside for him.

I don’t think it will get easier, and it will always be something that will always get to me.

By the way, who still has gifts to open a week after Christmas?

Gavin does!  He has about 10 more gifts to open, and we opened 3 today, and have opened a few since Christmas.  Christmas morning, he opened his gift from Santa, and didn’t want to open anything else.  LOL  We didn’t want to over stimulate him, and he loved his gift, so we thought we would let him open them later.  Well, even still after a week or so after Christmas, he still has a pile.  We had 5 different Christmas celebrations between our families, and between seeing everybody, we had a fun crazy Christmas as usual.

This gift from Santa is incredible!  These Vtech toys are wonderful for blind children.  Often there’s also enough room under each button for me to braille a letter/word, etc.  You typically can’t go wrong with a Vtech toy and Gavin!  He’s learned to master it pretty well already, and there’s more to it than just buttons.

I know I’m all over the map with this update post, but on the Gavin gene front, we hope to have some very exciting news… SOON.  I know I have been saying that, but there is a process for all of this, and we are being patient.   Speaking of Gavin’s gene, Ricki Lewis wrote a blog post about our journey with getting Gavin’s gene identified.  It’s detailed below, but here is the link to the actual post.  I will close with her post, since it is so well written, and captures our journey so well.  I can’t wait to add the ending part of this journey, very soon!

Again, thank you all for keeping up with our story, and our quest for an answer, and treatment/cure for LCA.  I always say I won’t stop until he can see the sunshine that warms his face.

Here is Ricki’s post:

In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, GUCY20, LRAT – and for each one, a few people would stand up, excited, then form little groups. After all 18 abbreviations had been called, representing the genes known to cause Leber congenital amaurosis (LCA), a few sets of parents were left standing. Troy and Jennifer Stevens, of Chino, California, were among those whose childrens’ genes and mutations were still a mystery.

In October, 2008, Jennifer had sensed instantly that something was wrong with her newborn. “They handed me a perfect-looking baby and I knew. It was an overwhelming feeling that I couldn’t dismiss.”

She was right.

Gavincouldn’t see.

After a nearly-year-long medical odyssey — from pediatrician to ophthalmologist to pediatric retinal specialist – the diagnosis loomed. Jennifer and Troy quickly learned that Gavin would need genetic testing to find out what type he had, but a doctor at Children’s Hospital Los Angeles said not to bother, for there was no treatment – unaware that gene therapy for one type of the disease, LCA2, had already worked, just a month before Gavin was born, on an 8-year-old.

Ignoring the doctor’s dire prediction, the Stevens’ sent Gavin’s blood to a genetic testing lab that specializes in eye diseases. It was December 2009, and Gavin was 14 months old and completely blind. Troy and Jennifer had met other LCA families on Yahoo and Facebook who’d used the lab, “and they got results in 2 months, some in 6. But every time I e-mailed the lab, they said ‘oh, we’re working on it,” Jennifer recalls.

Then at the family conference, Jennifer and Troy met with the director of the testing lab, who couldn’t believe they’d been waiting so long. “So he called the lab. We sat there, listening, and then he said, ‘The results are inconclusive. Gavin doesn’t have one of the genes.’ I don’t know how long they had that information but had not given it to us,” Jennifer says.

Part of the confusion was that at that time, the lab only tested for a few of the 16 genes then known to cause LCA, and only the most common mutations. This was a strategy based on economics, to minimize costs while maximizing the number of patients diagnosed. But that led to false negatives, a lot of erroneously equating of “we didn’t find a mutation” to “there’s no mutation,” and scant if any information at all for patients with rare disease variants.

A few parents distressed by the partial test results had told Troy and Jennifer about John (Pei-wen) Chiang, PhD, who was then at the University of Denver and is now director of the Molecular Diagnostic Laboratory at the    Casey Eye Institute in Portland, Oregon. And so at 11 PM on that Saturday night, a desperate and angry Jennifer e-mailed Dr. Chiang. She was stunned at how quickly he responded.

“I called her back within a half hour, and promised to do my best to help. Then I read her blog and learned all about Gavin,” Dr. Chiang picks up the story.

“As soon as we flew home, we went to the hospital and got bloodwork done and sent it to Dr. Chiang,” Jennifer recalls. And he tested for all known LCA genes – and not just the common parts of them – in two months. “He wouldn’t take no for an answer. If we’d went with what our first doctor said – it’s so far out from a treatment there’s no rush on bloodwork — we’d still be sitting here with our hands tied behind our backs,” she adds.

Dr. Chiang describes his passion simply: “This is not a tube of DNA with a number, there is a human being behind it.” And when Gavin’s DNA didn’t match any of the known LCA genes, Dr. Chiang facilitated the next leap: whole exome sequencing.

The exome is the part of the genome that tells the cell which proteins to make, which is what lies behind a trait or a disease. Looking at an exome is a little like downloading a book to a Kindle or Nook, compared to a chapter (sequencing a gene) or a few paragraphs (the common mutations in a gene). The answer is in there, but requires searching.

Dr. Chiang sent DNA from Gavin, Troy, Jennifer, and the grandparents to Ming Qi, PhD at the Beijing Genomics Institute, where he knew the sequencing would be done quickly. A few weeks later, a big excel file came back, which Dr. Chiang analyzed over the course of several weekends.

He set three criteria for finding Gavin’s gene: “First, because it is a rare condition, variations must be novel. Secondly, because Gavin is very severely affected, he must have at least one nonsense mutation (in which the encoded protein is very short). The third criterion is that it is recessive.”

Adhering to those predictions, Dr. Chiang found Gavin’s two mutations. Jennifer’s came from her mom, and Troy’s from his dad. Now Dr. Chiang is trying to figure out how the gene blocks vision – and he’s found the mutation in other families.

“When we don’t find a mutation, we sequence every gene involved, and when we still don’t find a mutation, those samples become very valuable to find new disease genes. That’s the reason I took the whole exome approach for Gavin,” Dr. Chiang explains. The finding may one day help Gavin, and others, because the first step towards gene therapy is to identify the genetic error. Researchers must learn what to replace.

The day is fast approaching when whole genome and exome sequencing become the norm, for researchers and then clinicians, replacing pricy panels of specific gene tests. “Next-generation” DNA sequencing and improved data analyses are already bringing the price down. At the summer 2010 meeting where Jennifer and Troy learned the first lab couldn’t identify their gene, the lab director estimated it would cost $50,000 to $100,000 to do exome sequencing on a family. Yet today, at least two companies, Knome  and Complete Genomics, offer sequencing and interpretation of human exomes and/or genomes for about $5,000 each, to researchers.

Sums up Jennifer, “I hope more parents get the phone call saying ‘we have identified your gene’. After being in limbo for years, it’s nice to finally have an answer.”

At the next Foundation for Retinal Research meeting, Jennifer, Troy, and Gavin will be able to stand when their gene is called. It’s a first step towards a cure.

Read more about Gavin and other kids with LCA in The Forever Fix: Gene Therapy and the Boy Who Saved It from St. Martin’s Press in March 2012.

Support Gavin, by purchasing a braille ornament this year.  The letters “GRSF” are in bling braille, with a sheer gold ribbon, and bow attached.  They will be packaged in a box, so you can store them safely until next Christmas!

The ornament is  all glass Gavin’s Groupies ORANGE!  (It looks darker in the photo)

Ornaments are $10

ALL PROCEEDS WILL BE DONATED TO GAVINS FOUNDATION

Order today… quanitites are limited.  It took me a few weeks to find Orange bulbs, so I only have a set amount.

You can mail a check to GRSF PO Box 2108, Chino CA 91708 or pay via PayPal on www.gavinsfoundation.org

I will take orders via email (jen@gavinsfoundation.org)… just tell me how many you would like!

Thank you for helping to bring awareness to LCA, Braille and Gavin’s Foundation.

Merry Christmas!

It is this time of year that really sets in the reality of Gavin’s total blindness condition.  Thank you for purchasing an ornament, so we can raise more funding for much needed LCA research.  Your ornament on your tree will be a constant reminder of your help for our cause!

With love and thanks

xoxoxo

Thankfulness….

• Thankful for my husband.  My best friend, father of our children, and my biggest fan.  Sometimes I wonder if I can do no wrong in his eyes.  I’m thankful for our banter, and our playful friendship that allows us to have such a solid relationship in our marriage.
• Thankful for my children, who I put first in my life, all the time.   It can get exhausting, but I know I only have them home for a short time, before they’re grown and out of the house.  That’s what I tell myself on Friday movie nights.  All 4 of us.  In our bed.  With popcorn kernels under the sheets. At least 3 of them sleep.  I hold on for dear life like a spider monkey to the side of the bed, but those special Saturday mornings of snuggling make it all worth it.
• Thankful for my parents, who I have watched the past few years turn into the best grandparents anyone could ever imagine.  My kids are so loved, and I know that is a very special bond that I do not take for granted.
• Thankful I live in this country.  Thankful to those who sacrificed, so I can make that statement with pride.
• Thankful for my friends.  My friends who have stuck by my side, when I haven’t been a good friend.  I focus so much on my own little family, that I know those relationships slip.  I love the special friends that I know we can pick up right where we left off.
• Thankful for things to happen the past year, that brings a new perspective.  Not all are pleasant, and some were down right crappy.  But it has allowed me to grasp a deeper understanding of certain people in my life.
• Thankful for my personal faith, and my journey, spiritually… and those that support it.
• Thankful to be able to stay at home with my kids, and be the ones on the front line with them, by their side… every single day.  I’m able to be okay with not bringing home a paycheck, as hard as that adjustment was.
• Thankful for my relationships within my family.  I have grown extremely close to many of my relatives, and they have helped me to shape the kind of person I want to be with my kids, future grandchildren, etc.  I see their unwavering love and support for Troy and I, as we had a very difficult year.  Those  who allow us to be who we are, and support what we do, and are their to help pick us up, and who cheer us on.
• Thankful I have a concrete understanding of what the important things in life are:  family, love and time  We have such limited time to love our family, and be happy.  Do it every moment.
• Thankful I do not equate happiness with materialistic things.
• Thankful for our Gavin’s Groupies whose support has forever changed me.  FOREVER changed me.  For the better.
• Thankful for the researchers, doctors, and the entire LCA community whose continued efforts will bring a change tomorrow for those who live in darkness.
• Thankful to be given the chance to be able to get older.  I am thankful to have another year living the life I have, and sharing the love I have with those around me.

Happy Thanksgiving to my friends and family.  I don’t want to sound trite when I say the support I get through all your emails, and kind comments in support about Gavin is overwhelming at times.  It’s true, and I keep each positive gesture tucked away deep in my heart.

I’m thankful for so much, and so many.

Our annual Gavin R Stevens Foundation Golf Tournament, is always our biggest event.  We had a change of venue, and  the wonderful Industry Hills Golf Club at Pacific Palms, was our host this year.  What a wonderful course they had!  We now know why that golf course was voted #1 in 2010 in all the country!

Our goal was to raise $28,000.00… and we came just under that with a total of $27,000.00 raised for our Gavin’s Foundation!

That’s not a bad day for a fundraiser!  Our helicopter drop was so exciting… make sure you check out the pics.

The reality is, there is so much work that goes into this.  I’m going to take a moment to list our golf committee, as well as our sponsors.

Our Golf Committe made it possible to all come together!

Troy Stevens, Jennifer Stevens, Rob Bohannan, Nancy Encinas, Sandi Lowe, Joanna Perry, Mindi Moon, Alice McComack, Alma Tooley, Jayson Nelson, John Flores, Jamie Goertz, Rachel Mayfield, Nick Koning, Pat McArdle, Harvey Luth

We had many meetings, and these wonderful people took time away from their families, to help us make our golf tournament such a success!  It is because of each othem collectively, that we were able to bring an idea to reality.  They are so gracious, and we are so lucky to have them want to help us!  Thank you all again.

Our wonderful sponsors made it all possible!

• Majestic Realty
• Majestic Management Co.
• Commerce Construction Co
• Blend Media Solutions
• Riverside Grill
• Hansen’s/Monster
• Eco-Fun Challenge (Irvine Lake Mud Run)
• J.C. French & Company, Inc
• United Paving Co.
• Interstate Restoration
• Premier Paving Inc.
• California Instution For Men (CIFM)
• Nelson Paving & Sealing
• LDM Construction
• Sanders & Wohrman Corporation
• Preferred Paving Company Inc.
• Ranscapes Inc.
• Accurate Colors Inc.
• Kiwanis Club
• Guard Top
• Lewis Roofing

Our complete golf album is on our Gavin’s Groupies Facebook page.

Pictures courtesy of Blend Media Solutions.