Supporting the cause toward a cure for Limb Girdle Muscular Dystrophy.
Welcome to Samantha's website. We have created it to keep friends and family informed on her condition. Since the summer of 2010, we have been discovering the diagnosis behind her physical challenges. Although she has been diagnosed with Limb Girdle Muscular Dystrophy (LGMD Type 2I), she is blissfully unaware. She is the most loving, energetic and beautiful little cherub who loves to sing, dance and play dress-up in her mommy's high heels.
Without a cure for this horrible disease, Samantha will have a shortened lifespan due to severe muscle wasting. We have been working with the wonderful Doctors at The National Institute of Health, Dupont and CHOP, who have given us great guidance and hope. There is promising research, however, the lack of adequate funding to the research facilities is prohibiting the rapid scientific progress toward discovering a treatment or cure. Although the Muscular Dystrophy Association (MDA) raises tremendous financial support, less than 1.5% of their total awards is given to research for Limb Girdle Muscular Dystrophy. If a cure is found for the more common type of Muscular Dystrophy (Duchenne MD), it doesn't necessarily translate to a cure for LGMD.
We are a tax exempt 501(c)(3) approved Public Charity. Because we are a Zero-Cost organization, all expenses are covered by Samantha's Family. Therefore, 100% of donations received will be used to fund research toward a cure. Our goal is to provide a minimum of a $25,000 grant annually to a research facility that is showing the most promising results toward a cure for LGMD.
INTERNATIONAL
MD REGISTRY
INFORMATION
Cure CMD, the LGMD2I Fund and the Newcastle TREAT-NMD office announce a collaboration to promote clinical trial readiness for LGMD2I. In anticipation of an LGMD2I clinical trial, we are working to align the 2 existing registries, one specific for FKRP and one for each of the other CMD-LGMD alpha dystroglycan related dystrophy (aDG-RD, dystroglycanopathy) genes. To launch a specific LGMD2I trial, we will need to have all FKRP patient information in one location, the FKRP international registry.
We would like to ask all people with confirmed FKRP mutations to register in the international FKRP registry (www.fkrp-registry.org). We would like to ask all people with a confirmed mutations in each of the other aDG related genes, including POMT1, POMT2, POMGnT1, DAG, LARGE and fukutin and those without a genetic diagnosis to register in the CMD International Registry (CMDIR-www.cmdir.org).
Both registries will continue to work together to provide registrants with the same up to date information on clinical studies and trials in the aDG-RDs. We believe that strides made in clinical trial readiness for the LGMD2I population will have significant impact for the larger group of patients with alpha-dystroglycan related dystrophies (aDG-RDs). We would like to thank all who have currently registered and encourage registrants to fully complete the survey questions.
Check out the highlights from our event....enjoy!
Special thanks to Elijah Morton for creating this video for us!
Introducing the First Annual Casino Night Grand Prize Winner - Sarah Wolfe
We are so grateful for all of you who helped to make our Casino Event such an amazing success. To all of the business owners who sponsored the casino tables or donated prizes for auction, we thank you for your unbelievable generosity. To each of you who came out to "gamble" in support of research for a cure for LGMD2i, thank you for spending your night with us. It was so wonderful seeing all of you there. We are so appreciative of the volunteers who offered their time to help make the event run so smoothly. Thanks to all of you, we were able to raise over $20,000 from the event. Proceeds from the event are being used to fund our first annual scientific research grant.
Click herefor details on the grant provided.
Limb Girdle Muscular Dystrophy (LGMD) is a progressively debilitating disease caused by weakness and muscle wasting mainly in the shoulder and hip areas. This congenital disease is a rare form of Muscular Dystrophy characterized by a genetic mutation which causes an inability to produce a vital sugar molecule on a dystroglycan protein in the muscle fibers. This defective protein causes Samantha's muscle enzymes (Creatine Kinase) to leak out of her muscles and into her bloodstream. Normal CK levels should be approximately 60-400 IU/L. Unfortunately, Samantha's CK levels are between 8,000 and 16,000 IU/L. Over time, this excessive muscle wasting can result in cardiovascular, respiratory and overall physical complications typically beginning in early adolescence.
Currently, other than physical therapy to temporarily improve muscle strength and coordination, there are no treatments or cure for LGMD. One area of research is focused on Gene Replacement Therapy. This process consists of injecting a virus containing the corrected gene type into the diseased muscles with the hopes of correcting the abnormal protein. This treatment is currently being tested in animals with muscular dystrophy. However, the administration of this process has yet to be perfected and the facilities doing this research rely on funding to complete their mission.
The other area of particular interest is with the use of drug libraries. Scientists across the world are actively testing current FDA approved drugs with the hopes of forestalling the muscle wasting and protecting the vital organs from being affected by this disease.
If you are interested in contributing toward the research for a cure, we would appreciate your financial donation. Your monetary support of the Samantha J. Brazzo Foundation will be used toward our first annual research grant that will be awarded to a carefully selected research facility that is demonstrating a promising approach toward the treatment or cure of LGMD. Please forward this website to anyone whom you feel would be interested in helping us conquer this disease.
Our Cause
If you would like to be added to our mailing list to stay informed when this site is updated, please submit your name and e-mail below.
Thanks for checking out Samantha's website!
Keith, Kelly, Marina & Samantha Brazzo
The Samantha J. Brazzo Foundation
590 Centerville Road #340
Lancaster, PA
We would love to hear your words of
support and encouragement.
Thanks for visiting our site!
8/31/2011
We are excited to tell you that we have received our 501c3 tax exempt status! For those of you who work for companies that offer a match for your donation, a copy of our 501(c)(3) status approval is attached at the bottom of the "Donations" page.
We were also thrilled to receive an e-mail this week from Sammy's Physical Therapist - she can now jump off of one foot! This is a major accomplishment for Samantha, and we were thrilled to hear the news. We took her and Marina to Friendly's to celebrate with a triple dip sundae.
It's great to see how many people are going to be attending our first annual casino night. We can't wait to see everyone on October 22nd!
5/2/1011
There has been some exciting news with regard to a drug treatment that is being tested to halt the progression of Muscular Dystrophy. Keith spoke with Dr. Dean Burkin (Reno, NV) and Dr. Brad Hodges (Prothelia Labs). Together, they are having good success in mice models with a drug called Laminin 111. This drug has been yielding positive outcomes in the mice with MD. Our hope is that these labs continue to progress and move toward clinical trials on humans as soon as possible. We pray that this drug could possibly be effective in treating Samantha's specific type of MD (FKRP deficiency).
4/11/2011
We just returned from a 2nd visit to the National Institute of Health for genetic counseling with our research team. We were told that Samantha has one of the most progressive types of MD which is associated with severe heart and breathing problems and an inability to walk beginning in early adolescence. However, we were told that there is intense research happening locally and internationally to find a possible drug treatment to slow or potentially stop the progression of the disease. There are also many facilities working on perfecting Gene Replacement Therapy which will hopefully result in clinical trials in the next few years. In the meantime, Samantha is doing great in her physical therapy routine and continues to improve her strength and coordination everyday.
3/26/2011
We finally received the call from the National Institute of Health. Samantha's genetic testing results have come in. She has been diagnosed with Limb Girdle Muscular Dystrophy type 2i. Although we are saddened that Samantha will be challenged by this awful disease, we are more determined than ever to beat this. With your help and support, we will secure a bright future for her and all of those affected by Muscular Dystrophy.
2/18/2011
Our visit to the National Institute of Health in January was so informative and encouraging. We are awaiting the results of her DNA blood test which will tell us exactly what type of Limb Girdle Muscular Dystrophy that Sammy has. We will keep this site updated when we hear the results and her expected prognosis. Please keep her in your prayers!
Thank you so much for your fully tax-deductible contribution. Our commitment to you is that 100% of the donations received on this site will go directly to support the scientific research working toward a cure for Limb Girdle Muscular Dystrophy.
Checks can be made payable to:
Lancaster, PA 17601
For a secure online donation, please click on the
PayPal link below.
501c3 status approval0001[1].pdf
CLICK HERE
TO DONATE
Lorem ipsum dolor sit amet
Fusce tempor arcu ac urna. Fusce congue eleifend mi. Pellentesque metus sem, elementum eu, rhoncus sed, gravida sit amet, nulla. Lorem ipsum dolor sit amet, consectetuer adipiscing elit. Aenean condimentum, odio quis pharetra dignissim, diam nisl dignissim diam, eu interdum magna erat sit amet felis. Etiam non felis at urna tempus luctus. In ullamcorper nisl congue elit. In convallis nibh vitae justo. Quisque ac lectus vitae sem consequat sagittis. Donec turpis nisi, feugiat sollicitudin, fermentum
The Samantha J. Brazzo Foundation, The LGMD2i Research Fund and Cure CMD will jointly fund a research project to support the development and characterization of a stable FKRP zebrafish model to be used for screening of potential drug candidates. Candidate drugs will also be tested in another zebrafish model of dystroglycanopathy (POMT2 deficiency) in parallel to the FKRP model for comparison. This will bring further insight into the disease process among the alpha-dystroglycan-related diseases. In order to potentially expand the impact of the discoveries made in this project, all results will be shared through an open source database.
The project will be led by Dr. James Dowling (University of Michigan), who has a proven track record in generating stable zebrafish models for other muscular diseases. The stable zebrafish model of FKRP mutations is a key tool for identifying new therapies for LGMD2i, and by screening drugs in two dystroglycanopathy models, we hope to maximize advancements in drug discovery for this group of disorders.
Home
Guestbook
Donations
Updates
Contact
Events
