30
%of kids with rare diseases will NOT see their 5th birthday
7,000
known rare diseases
95
%of rare diseases have no FDA approved treatment
30
MillionAmericans are diagnosed with a rare disease
WHAT WE DO
Help Rare Disease Warriors & Their Families THRIVE
Project Based Research
Our approach to funding research is unique. Similar to how an idea becomes a sustainable business, our projects have a plan, anticipated milestones and are reviewed by our advisors to ensure validity. We aspire to be a hub of information for families and doctors around the world who are working on rare pediatric diseases. Sharing findings mitigates the communication disconnect that often occurs. Our approach leads to collaboration and potential advancement.
Genetic Testing Resources
Many families struggle to get a diagnosis for their children who have rare or complex conditions. Genetic testing can help them find the cause of their child's symptoms and get the right treatment. However, some insurance companies do not cover genetic testing, leaving these families with a huge financial burden. We provide funding for families who get denied access to genetic testing by their insurance but need the test to help diagnose their child in order to get coverage for their needs.
Life Saving Individual Profiles
All too often parents are told, “just wait” and left to navigate this journey on their own, struggling to help their child survive long enough for science to catch up. We help families share their stories so that they have a simple page to share to better help educate the community on their child and what he/she needs to best thrive. This profile has proven life-saving in our child's story at a very critical time and we hope that it provides other children with an easy tool that has the potential to save their life in a vulnerable situation.
Rare Disease Research
How Our Research "Projects" Work
Each project is required to present a research case description, anticipated funding needs, project timing and proposed milestones. We also require that the team applying have 20% of the initial project funding in place. Our Take Part Foundation advisors (comprised of doctors, business executives and leaders within partner organizations) then review the application for validity of project model and medical assumptions, financial evaluation and proof of concept.
Once accepted, each Take Part project is assigned a project manager by the foundation. Our project manager will be responsible for oversight, including collaborating to set agreed upon project milestones and metrics, ensuring the receipt of updates on results, reporting to and validating with the foundation’s advisory board, as well as allocating project funding to the designated institution. It’s important to note that funding will only be issued to the institution affiliated with the project; funding will not be given directly to the research team or to any individual.
Our Current Project
Meet Natalie
Project 0001: PyroXD1
PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1) is a Protein Coding gene. Diseases associated with it present as extremely rare and progressive forms of muscular dystrophy. Less than 20 people worldwide have this specific mutation, one of those people is our daughter Natalie. Her case is considered extremely severe, as her symptoms set in at a very young age. Natalie cannot walk, crawl, or do any of the things any other 3-year-old can do. She can barely use her muscles at all. A simple cold means endless trips to the emergency room. Natalie needs constant round-the-clock care, receives hyperbaric oxygen therapy twice a week ,and uses a G tube to eat. She fights every day.
Her mutation has no cure. And, due to the small number of cases, traditional research funding from pharmaceutical companies and others simply doesn’t exist. It doesn’t make financial sense.
Funding for this project, estimated at $250,000, will allow researchers to discover insights into the origin of this mutation, how it affects the body and possible treatment options. We know this won’t save Natalie, but we hope it will lead the way for finding a cure for PYROXD-1 and help others with rare pediatric diseases.
How Can You Help?
Your donation will help us save and improve lives with research, education and emergency care.
BLOG POST
Coming soon to help share stories of our Warriors
