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Newly Diagnosed
Where do we go from here?
You likely had never heard of IRF2BPL-Related Disorder until receiving a diagnosis. Chances are you met with a genetic counselor and left with more questions than answers. While we do not have the answers you want (we are working hard to find them!) we do have information, ways to participate and a sense of hope.
Taking Steps Towards Research
We are on a mission to create a safe and effective treatment for IRF2BPL-Related Disorder but we need your help! If you or your child has been diagnosed and would like to participate in the critical research being done, please enroll in the studies below.
Simons Searchlight: Simons Searchlight studies genes that cause rare neurodevelopmental disorders. The study is international, and families can participate in several languages.
Natural History Study: Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene (IRF2BPL). This study is currently being transferred between physicians. Stay tuned for how to enroll!
Cell Collection: If you are interested in having cells collected for research purposes, we are happy to help coordinate these efforts.
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Participation is vital for medical research. It drives the discovery of new treatments and improves patient outcomes. By engaging in studies, participants contribute to a deeper understanding of diseases and the effectiveness of potential therapies.
RARE Concierge
We have proudly partnered with Global Genes and would like to introduce you to their RARE Concierge. The RARE Concierge patient service guides are here to help you navigate the new world of rare you just became a part of. What can the Global Genes RARE Concierge do for you? Their free service offers support and understanding, Identifying financial resources to help with treatment, travel, or care, finding a specialist or care resources, and so much more.
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Two things that we want you to know
“No matter how bleak or menacing a situation may appear, it does not entirely own us. It can't take away our freedom to respond, our power to take action.” — Ryder Carroll
You Are Not Alone
An ultra rare diagnosis can make you feel like you are climbing a mountain all by yourself. We have all been where you are now and we understand all the emotions you are experiencing. There are other IRF2BPL families that want to support you!
Rare, but not alone.
There Is Hope
A genetic counselor once said "If there is a time to have a genetic mutation, it is now." Those words did not mean much at the time, but now we see a path to treatment. We are living in a time where disorders like IRF2BPL are being treated. We are dedicated to finding answers to give patient's and their families the lives they deserve.
