Merry Christmas & Happy New Year (Living w/ Spinal Muscular Atrophy)

We had a great Christmas. Jenna just loved seeing everyone, licking cookies, and especially Aunt Nancy's kitty. Jenna really wanted a pig (yes, a real live pig) for Christmas, but I think she was happy with the Olivia she received instead. She also loved the fact that she received a Claires gift card in her stocking so she can "go to the mall!" in the spring. She is definitely psyched about Claires.

She has been doing well except for the extra secretions the last couple weeks. We are wondering if it is due to her one medication as that is a side effect. We need to try to figure that out b/c more times that not, she is unable to sit up b/c of it. We are thinking about having her PICC line removed soon. Originally we were going to keep it until she saw Hematology for her low iron saturation levels, but we really don't think we would risk her being at the hospital for an iron infusion during this time of year. We are going to try her on an all-natural iron supplement to see if that helps a bit w/ it while we wait to get into the clinic and also while we wait out respiratory season. Other than that, she is doing well.

Wishing everyone a Happy and HEALTHY New Year!!

 

Muscular Dystrophy Association Invests $1.4 Million to Help Advance the Families of SMA Quinazoline Drug Program for Spinal Muscular Atrophy at Repligen Corporation (Living w/ Spinal Muscular Atrophy)

Muscular Dystrophy Association Invests $1.4 Million to Help Advance the Families of SMA Quinazoline Drug Program for Spinal Muscular Atrophy at Repligen Corporation.December 15, 2010.


The MDA has committed to invest funds in the FSMA Quinazoline Program at Repligen Corporation to assist in advancing the program to an IND filing with the FDA.

FSMA began the Quinazoline, or DcpS inhibitor RG3039, program in 2000 at the very initial stages of drug development, when risk is the highest. It was the very first industrial drug program for SMA ever done. FSMA fully funded the program until 2009, when our investments over of $13 Million provided the positive results to leverage larger funding amounts for clinical development from Repligen Corporation.


Repligen Corporation is now responsible for coordinating and funding the clinical development phase of the program. This current MDA grant is the second outside funding award obtained for this particular program. In 2009, Christine DiDonato of Northwestern University received a NIH grant using data obtained with FSMA funding to support mouse model studies on this compound.


The follow-on investments made by the government, the company Repligen, and now the MDA in this particular program help demonstrate the value and success of the FSMA model and its scientific expertise.


One of the goals at FSMA is to fund and de-risk early stage drug discovery programs for SMA to the point that other groups are willing to invest. At the earliest stages of drug development programs have less than a 1% chance of FDA approval. This inherent risk along with low potential for profit due to a small patient population has traditionally hindered industry from working on orphan diseases. FSMA has actively reduced the barriers to early stage SMA drug discovery programs by providing: 1) early seed funding, 2) access to tools and reagents, 3) expert SMA advisors, and 4) established clinical trial protocols and networks.



In keeping with our commitment to build a robust drug pipeline for SMA, in order to mitigate the inherent risk associated with even the most promising approaches, FSMA recently released a Request for Proposals for new preclinical drug discovery programs.

Partnerships between non-profits, the government and companies are a very effective way to share the risks of developing rare disease treatments. This FSMA approach also enables the correct expertise for a particular stage of development to be brought into a program.


About Families of Spinal Muscular Atrophy:


Families of Spinal Muscular Atrophy is dedicated to creating a treatment and cure by: Funding and advancing a comprehensive research program; Supporting SMA families through networking, information and services; Improving care for all SMA patients; Educating health professionals and the public about SMA; Enlisting government support for SMA; Embracing all touched by SMA in a caring community. FSMA’s vision is a world where Spinal Muscular Atrophy is treatable and curable.


Families of SMA is a non-profit 501(c)3 tax exempt organization with 30 Chapters throughout the United States and over 70,000 members and supporters. Families of SMA funds and directs the leading SMA research programs. The successful results and progress from basic research to drug discovery programs to clinical trials provide real hope for families and patients.


Web site: http://www.curesma.org/

Jenna & Santa! (Living w/ Spinal Muscular Atrophy)



Christmas Wish (Living w/ Spinal Muscular Atrophy)

Jenna received a wish last weekend from The Independence Foundation's Christmas Wish List program.  The program is designed to help provide assistance to children and individuals with physical disabilities become more independent.  The iPad will help Jenna become independent in reading books, playing games, and listening to music.  She will also be able to do education programs that will help her with not only her academic skills, but also with speech therapy.  Thank you Independence Foundation for making Jenna's wish come true!

For more information on the Independence Foundation, please visit them at: http://www.theindependencefoundation.org/

For more information on Spinal Muscular Atrophy (SMA), please visit http://www.fsma.org/

I Gotta Feelin'... (Living w/ Spinal Muscular Atrophy)

This message has been sent using the picture and Video service from Verizon Wireless!

To learn how you can snap pictures and capture videos with your wireless phone visit www.verizonwireless.com/picture.

Note: To play video messages sent to email, Quicktime@ 6.5 or higher is required.

Christmas Wish List Program (Living w/ Spinal Muscular Atrophy)

Jenna has been home from the hospital for almost a month now and is doing well.  Her stomach has been tolerating feeds and really doing well.  She is back at it w/ therapies, webcam and homeschooling.  Actually, she has had a pretty good week this week w/ homeschool instruction.

Saturday we are going to a Christmas Concert fudraiser for The Independence Foundation, an awesome organization that helps disabled children and young adults become more independent.  Every year they run a program called the "Christmas Wish List" program, in which the fundraiser helps raise money for.  The program tries to grant wishes for these children that would help them become more independent and that insurance will not pay for.  Jenna put in a wish this year and will be receiving it that evening!  I cannot tell you what it is just yet, as it is a surprise for her!  And BOY is she going to be surprised!

For more information on The Independence Foundation, please feel free to visit their website at:  http://www.theindependencefoundation.org/



* For more information on Spinal Muscular Atrophy, please visit http://www.fsma.org/