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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.
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We encourage you to register with Tough Genes. By sharing your contact information, we can communicate research and clinical trial opportunities with you, provide educational and advocacy resources, and help families connect.
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Learn About IRF2BPL
If you have already searched for IRF2BPL on the internet, we are sorry. It can be a very scary thing to read about without additional information. We encourage you to learn as much as you can about the IRF2BPL gene and the accompanying disorder when you are ready. Here are some highlights:
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- The IRF2BPL gene was discovered in 2000 and a disorder associated with mutations to the gene was able to be isolated in 2018.​​
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- There is no known treatment or cure for IRF2BPL-Related Disorder but symptomatic treatment can manage symptoms of those affected. This could include anti-seizure medications, physical therapy, occupational therapy, speech therapy or a host of other symptomatic treatment plans tailored to the individual.
- ​It is important to remember that no parent causes their child's genetic changes. The change takes place spontaneously and cannot be predicted or stopped.
- Every person with an IRF2BPL mutation has a unique experience. The features of IRF2BPL-Related Disorder (NEDAMSS) vary by individual, but can include some or all of the following: neurological regression, Autism Spectrum Disorder, seizures and/or epilepsy, dystonia, ataxia, global developmental delay, speech/language difficulties, and difficulty swallowing.
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The Tough Genes website is full of helpful information that will help you learn more. We encourage you to share our website with your medical specialists as well.
Connect With Others
There are IRF2BPL-Related Disorder families all over the world! Connect with our world-wide patient community on Facebook by searching for "IRF2BPL" under groups.
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We're mapping our IRF2BPL-Related Disorder (NEDAMSS) families around the world! If you are an individual with IRF2BPL-Related Disorder or a parent/primary caregiver, we encourage you to register and we will place you on the map that appears below, as well as on our homepage. By sharing your contact information, we can communicate research and clinical trial opportunities with you, provide educational and advocacy resources, and help families connect.
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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.
