Sophia's Cure Foundation

Avery’s Bucket List continues to touch the life of everyone around the WORLD

Vincent Gaynor — Mon, 07 May 2012 12:43:23 +0000

Avery’s voice continues to be heard outside of our disease community. She has connected with people and has motivated them to make a lasting change in her memory. One of those people has approached us anonymously. This donor heard Avery’s voice and wanted to make a BIG difference. Initially this anonymous donor wanted to donate $11,111.11 to honor Avery’s birthdate of 11/11/11. Upon reading of the donor willing to match every dollar that comes in Avery’s name, this generous person got all fired up and accepted the challenge, they immediately decided to add to that total and has donated $111,111.00 in Avery’s memory. We are moved beyond words by the generosity of strangers, and the power of this beautiful angel. This check came with a note reading “Avery can add Finish a fundraiser with Mom & Dad to her bucket list!”.This brings Avery’s donations to $283,635.99 and still growing!!!! Avery’s spirit is stronger than SMA, and we are in awe watching her spirit CRUSH SMA FOREVER !!!!!

Gene Therapy’s Major Anonymous DONOR touched by AVERY”S BUCKET LIST

Vincent Gaynor — Tue, 01 May 2012 20:07:43 +0000

Today is a day of both overpowering grief and overpowering hope in the SMA Community. As we described in our previous blog post, beautiful Avery Lynn Canahuati, of “Avery’s Bucket List” passed away yesterday at just 5 months old. In their latest blog, the Canahuati family asked that donations be made in Avery’s honor to Sophia’s Cure Foundation to help fund Dr. Kaspar’s gene therapy program, which will be headed to human clinical trial by late 2012 or early 2013.

As many of you in the community will remember, last year, an anonymous donor generously gave $400,000 towards the pre-clinical work for the gene therapy program. That same donor has contacted us today, and touched by Avery’s story, has committed to match, dollar-for-dollar, every contribution made in Avery’s honor to Sophia’s Cure Foundation — up to $500,000 — so long as the FDA approves the program for a human clinical trial.

Now is our chance to raise ALL of the money needed to bring this promising program to a clinical trial for children with SMA. Please spread the word by sharing this post. If you were thinking about donating to help CURE SMA, now is the time. Your contribution will have twice the impact.

And to Avery: your life may have been short, but your impact will be ever-lasting.

DONATE HERE

SMA IT FORWARD

Vincent Gaynor — Tue, 01 May 2012 15:11:13 +0000

Super SMA KID Cashel will be turning 16 soon, he took it upon him self to start SMA IT FORWARD……He is hoping his Facebook page will reach 1 million likes by the time he turns 16….So lets get out there and get our friends and family to make this happen. and Sharing is caring CLick here and like SMA IT FORWARD…. We are pulling for you Cashel.

The Spinal Muscular Atrophy (SMA) Communities “Bucket List”

Vincent Gaynor — Sat, 28 Apr 2012 23:50:03 +0000

The time has come to thank the many families and groups that have come together as part of the 200 commitments for SMA. Your efforts have pushed a program forward at a pace that has rarely been seen in our disease community. The community should be extremely proud of what they have been able to accomplish. Last year at a research conference I remember a representative of a panel state that a smaller organization could never fund any of these programs to the clinic. With your support………we have been able to accomplish some amazing things and let our actions speak for themselves. In December the Sophia’s Cure Foundation had the great priveledge of participating in a Pre-Ind phone call with the Food and Drug Administration, in regards to the Systemic Administration of AAV9 for Spinal Muscular Atrophy. This phone call helped to provide guidance for the AAV9 program and the march towards the clinic. We strive to provide accurate information to our community. As we reported last year an SMA Pig model was not necessary to get to human clinical trials. In fact, an SMA Pig model would have never fit into our rigorous timelines. Waiting for this model to emerge would have pushed this program back years. It has been our goal to provide a treatment for SMA children sooner rather than later. The program lead by Dr. Kaspar has undergone some of the most rigorous testing to validate safety to date out of all SMA programs. Over 100 animals have been tested which included Non-Human Primates. While some programs currently moving towards the clinic have reported a 5 day study in Non-Human Primates, the AAV9 program has completed 6 month safety studies in the Non-Human Primate which included animals that were treated from infancy to 3 years in age. It is important to point out that not a single animal whether it was a mice or a Non-Human Primate died from this treatment.

Last year we started a campaign “The 200 Commitments” for SMA. It was our goal to raise the necessary funding to move this program towards the clinic. This campaign was extremely succesful at reaching our goals. The 1 Million dollars was a projection of what it would cost to produce the viral load and the animal studies necessary under FDA guidance. We are ecstatic to announce to you today…………….that this program is fully funded to the clinic. With tight budgets, and a little negotiation we have been able to conserve expenditures. One of the greatest savings for this program was that the FDA was satisfied with our Non-Human Primate studies and did not require any additional larger animal studies. We were overjoyed with our conversation with the FDA and one can imagine how much money was saved by this decision. We are here to report to you today the completion of this campaign and would like to thank everyone who helped move this program along.

We are extremely pleased to report to you today more great news. The product we have been funding scAAV9 has just passed all screenings and validation in accordance with FDA guidelines clearing the way for its use in the final FDA studies. We have just received the lab results which clears this program to start the 6 month animal studies. The first cohort of animals will be injected in the next few days.

The Sophia’s Cure Foundation remains committed to see this program through. We are entering our final fundraising phase for this program. From this day forward we will be fundraising to pay for Phase 1 of the clinical trial………………That is right…….we will be fundraising to provide the funding for the actual treatment of SMA patients. Upon funding the next leg we will walk away and allow a Bio-Tech company to take over this program. Our grant agreements with Nationwide have been very efficient at conserving donor dollars. Not a single dollar from the Sophia’s Cure Foundation has been charged an Indirect. We are very pleased with the working partnership The Sophia’s Cure Foundation has with Nationwide Children’s Hospital. We look forward to bringing this therapy foward to the patient population.

A brief history of the AAV9 Gene Therapy Program:

Dr. Kaspar has specialized in the area of Gene Therapy for many years and one would find it difficult to find a researcher who has excelled in this field of research for as long. Dr. Kaspar began his work in the year 1991. For many years his work focused on ALS. By chance Kevin Foust Ph.D. discovered in 2006 a virus that effectively targeted Motor Neurons that virus was AAV9. In 2009 the lab decided to push forward with a program for SMA. When it was decided this program would focus on Spinal Muscular Atrophy the decision was made to bring on a researcher who specialized in this disease. Who better than Dr. Arthur Burgess. Dr Burgess has been an asset to this program since joining in 2009. As work progressed on this program and it became clear that this program would be marching towards the clinic Dr. Jerry Mendell was aked to join this program. Dr Mendell was a welcome addition with his many years of experience with the FDA and his expertise at getting programs to clinical trials. Together we believe this is the perfect team to move a hopeful program forward for SMA. As the talk for Bucket list has buzzed through the community we just want to add to it…that on Sophia’s Bucket List she wants what everyone in the community wants a cure for Spinal Muscular Atrophy.

Its Fun to Beeeee Threeeee…………

Catherine Gaynor — Tue, 27 Mar 2012 12:00:50 +0000

Sophia turned 3 on February 27 2012…..We feel so blessed every milestone we reach with our little girl. When she turned 2, I think we felt like a big weight had been lifted (she had reached a milestone that the Dr.s said she never would make) so this last year has really been amazing. She has beaten the odds and loving her life on HER terms!!!! And we are so lucky to be along for this amazing ride!!!! This past weekend we had Sophia’s Birthday party (in true Sophia Style…. at Nunley’s Carousel. Sophia has always loved the carousel, she loves the horses, colors and music. I had seen another mom in my community had her daughters party there and I knew I had to check it out!!!! On close inspection of the Carousel, we saw that it is actually a historical artifact. Nunley’s first opened in Canarsie Brooklyn in 1912, It stayed there for 26 years and later was moved to Baldwin NY, and now recently to Garden City . Well as soon as I saw that Nunleys Started in Canarsie I knew it was a sign from my mom, (you see my mother was born in Canarsie and like Sophia loved the Carousel).

The party was perfect, the young ladies who ran the day were amazing, and so sweet with Sophia….we had the whole place to ourselves so Sophia could enjoy the day with her friends and family, we all rode the Carousel as many times as we wanted, all the kids did a craft (they made princess crowns ) and then all the kids played “Pin the crown on the princess”….. watching Sophia enjoy herself left a permanent smile on my heart that I will never forget. We were so honored to have Amanda and her family join us …(Amanda is the creator of Cupcakes for Sophia’s Cure) and we got to share in her amazing cupcakes she created just for our Sophia. We also enjoyed the Beautiful cake created by Dawn Olson, thank you so much Dawn !!!! We are so happy to hear that everyone who came had such a nice time, Sophia loved seeing everyone and spending the day together was perfect!!!!!! Thank you to everyone who sent gifts and messages for Sophia …we love you all!!!!

Up up and away………..SUPERMAN……..

Catherine Gaynor — Sat, 10 Mar 2012 12:58:00 +0000

We received a beautiful card from Marisa Conte. Marisa is friends of Coby Quinn Kulis’s family. Coby was a beautiful little boy who lost his battle to SMA on February 27, 2011. The same day our daughter Sophia turned two…… Lori and Dave are one of the bravest people we know, they spent every second of every day they had with Coby loving him, making him smile, and making beautiful memories that they will cherish forever. Ever since the day Coby flew to heaven they have spent every second of every day working towards keeping Coby’s memory alive, raising awareness for SMA, and inspiring others to do the same. It is very clear they are doing just that…..in the card Marisa sent was checks totaling over $4,500 and in her own words :

This money is in honor of Coby Quinn Kulis, a brave Superman that touched my heart in ways I didnt know were possible.

Thank you Marisa for all your amazing work and for believing in our mission to end SMA!!!!

Asking for Prayers…….

Catherine Gaynor — Fri, 17 Feb 2012 12:16:33 +0000

I first want to apologize if we seem MIA lately…….besides Sophia having a rough winter (thank god she seems to be over her sickies) We have been dealing with a lot of personal issues. Vinny is the last person to ever come out and ask for prayers or sympathy…..but I am……Vinny has been dealing with his own disease since I have known him, Crohns Disease……When I was pregnant with Sophia we got the disease into remission and under control, but as you can imagine once Sophia was diagnosed Vinny abandoned all thoughts of his own health….for the last 3 years he has been running 110 miles per hour pushing and fighting full speed ahead to end SMA……but this has taken a toll on him and sadly his Crohns is back and more painful than ever. I had no idea how bad it was because Vinny would not tell me everything, but over the last month the pain has been unbearable…..over this last week we have met with a Dr. and Monday Vinny will be having a procedure done which we hope will help. So I ask you to please pray for my husband, for Sophia and Jacksons father…our family is a team and it does not work if we are missing anyone…..I apologize if our family and SCF has seemed hard to reach lately or if it takes us a while to get back to you, we pride ourselves on running this organization ourselves (100%) volunteer …so if we take a day or two to get back to you, please understand…..We are always so humbled and grateful to everyone who believes in us and our mission……The recent death of Gary Carter (all star catcher for the Mets) just got me thinking how much he reminds me of Vinny……when I first met Vinny, he always spoke about how much he loved and admired and looked up to Gary Carter, he was his childhood hero….Vinny always said Gary Carter put his whole heart and soul into the game, that he was a “stand up guy”, a gentlemen, …well now as I sit here those same words can be said about my husband….I have never met anyone in my whole life who is as dedicated as he is, who puts every ounce of his heart and soul into what he believes in, he has that attitude that NOTHING will stop him…nothing…..he fights for what is RIGHT, for what he believes in, he is not afraid to stand alone…..Im so proud he chose me to be his partner in this journey, and Sophia and Jackson are so lucky to have him….So on Monday if you can please keep my husband in your prayers, for the Dr. to perform a safe procedure and for us to get positive results!!!!! Thank you all so much from the bottom of my heart !!!!!!

Aiden……..

Catherine Gaynor — Sat, 14 Jan 2012 10:41:54 +0000

I remember when Sophia was first diagnosed and Vinny and I started meeting other SMA families online …we would look at all the photos of the beautiful children. I will never forget when we first came across Aiden’s photos……his big beautiful smile was so infectious it just made you want to smile. It was hard to look away!!!!!! You could see the happiness radiate from him, you could just tell all the love and happiness his mommy and daddy brought him just poured out from him!!!! We were heartbroken when Aiden lost his battle to SMA, nowhere near what his mom and dad must feel. But if I know one thing, that beautiful boys smile is branded in our hearts and mind, I can still see it……..nothing and nobody can take that away….We want to thank all the generous donors who donated in memory of Aiden Bundy. All funds raised in Aidens name will be going to Dr. Kaspar’s Gene Therapy Research for SMA, requested by his mom and dad, in hopes that in the near future SMA will no longer be a terminal diagnosis.

In Memory of Sophie Kathleen TerHorst

Catherine Gaynor — Fri, 13 Jan 2012 12:48:18 +0000

We received the following letter the other day…..though Sophie was only here for a short while, she made a difference and inspired all around her….

Dear Vincent

Some very dear friends of my wife and mine recently lost their daughter to SMA. Her name was Sophie Kathleen TerHorst. She was a beautiful little girl who brought tons of joy to the world in her short nine months with her family and friends.

Sophie’s fight with SMA shed light on the character of her parents, Mike and Liz, too. They were determined to give their daughter the highest quality of life while alive and handled this terribly tragic circumstance heroically. Organizations like yours helped Mike and Liz make the most of the short time they had with Sophie.

Because the TerHorst’s are such good friends and my wife and I were so impressed with their handling of their daughter’s condition we offered to make a donation of $2,500 to the organization of their choosing on Sophie’s behalf through The Lutsey Family Foundation.

Mike and Liz decided to donate the funds to your organization! On behalf of Sophie kathleen TerHorst, please accept the enclosed check of $2,500 for The Sophia’s Cure Foundation.

Sincerely,

Andrew Lutsey

We are so grateful and humbled by the generous gesture from baby Sophie’s family, all funds will go to Dr. Kaspar’s Gene Therapy program. Another tiny hand making a big difference to end SMA!!!!!

How do you measure a year?….

Vincent Gaynor — Sun, 01 Jan 2012 01:43:02 +0000

I would like to start this post by thanking everyone who believed in our family, all of you who believed in The Sophia’s Cure Foundation and who have believed in the programs we have funded. 2011 was such an amazing year for our organization…………..but in all honesty, I was looking past 2011 all year long because I knew what was in store for our children and family members who have been touched personally by Spinal Muscular Atrophy. To be quite frank…….I have been looking past this year and counting down the days to 2012. I know that after midnight tonight……….we are just 525,600 minutes away from an incredible year for SMA.

Together all of our families have been able to do the impossible………to take a program that we all believed in and with incredible fortitude and unwavering will power nudge this program towards the finish line………What we have as the heart in our logo is symbolic for the undying LOVE we have for our daughter Sophia. The same LOVE that every family has for their child. The LOVE that each and every family who came together as part of the 200 Campaign shared for their children. The LOVE that literally carried this program through 2011 was all made possible by the families who came together. Now we are on the doorsteps of 2012 ready to change the world.

2012 has the potential to be a breakthrough year for our disease. The Gene Therapy Program at Nationwide Children’s Hospital recently had their Pre-IND meeting with the FDA and the data was well received. This program is moving forward towards the clinic with guidance for the Safety, Toxicology and Bio-Distibution studies needed at this stage of the game prior to moving into humans. This is the closing stretch and 100% of the funding for these studies was raised by the families involved in The 200 campaign. Your efforts assured that there would be no delays for funding reasons and when the parameters of the studies were accepted, we could march forward as a community towards the clinic. There is much work still ahead but it makes for an incredibly exciting 2012 where the goal is to be in humans. We are so very thankful to each and every one of you who have made this possible. There are so many SMA warriors who contributed to this program as well as so many friends who were near to our hearts that became Angels in 2011. It was a very painful year for all of us and especially for the families who lost a child. We were extremely moved that in their memory, their families believed in this program and literally pushed it forward for all of us. Dr. Brian Kaspar was extremely grateful for everyone who took part in the 200 campaign and wanted to thank them personally.

“Thank you for the generous and amazing support over the last year to advance our systemic gene delivery that continues to show great promise. We have moved this program forward in 2011, gaining even greater confidence in the safety and efficacy of this approach and recently spoke to the Food and Drug Administration (FDA) regarding the advancement to human clinical trials. We had a very productive meeting with FDA outlining a path to the clinic and we are marching forward with the required studies in 2012 to get into trials. As always, we were impressed with the thoroughness and guidance that the FDA gave us which helps the program in general. Our group sincerely thanks everyone involved in helping move this program and we will continue to be open and honest in our pursuit to bring a potential therapy to SMA patients.” ~Dr. Brian Kaspar Ph.D

We know this journey has been hard. Many families have been doing this for 5, 10, and even 20 years. Now is the time to push harder, stronger …never losing hope….It is always darkest before the dawn……….Our hope is this year will bring the dawn of a new era for SMA and what has gotten us all here is……………………LOVE!