Are GRIN mutations rare?

Posted in Blog, Charity, News

March is Grin awareness month. EMG has taken its responsibility in funding research and made support available to GRIN patient and their parents. Why we choose this particular area to make the world a better place?

GRIN mutations are rare – the first mutation was only discovered about ten years ago, and currently, there are only several hundreds of known cases around the globe. The actual number of patients is most likely much higher as the deviation is relatively new. Many potential patients were tested when GRIN deviations were not part of the available tests. We hope that increased awareness will lead to increased testing and result in a more accurate overview of the total number of patients. A more significant number of diagnosed cases will push GRIN research forward, resulting in a solution for all patients.

When a child is diagnosed with a rare disease, parents are very much on their own. In most cases, you won’t find local doctors who can assist. Most medical professionals do not have the time available to go into details to find solutions for one patient. The parent has to step up – Must educate themselves and each other. Helping your child involves learning, inspiring others, and convincing your medical professional to consider new approaches. You cannot lean back and hope that any medical professional has the time and the resources to do everything possible for your child.

We are proud to be able to play a role in bringing families together and connecting families with researchers. The sharing of information is critical in GRIN research and treatments, in the same way as it is in global mobility!

Want to learn more about GRIN disorder?

We have a limited amount of ‘stories of GRIN’ books available to distribute for free. Please send us a message when you would like to receive the book, including your full address.

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