<div><em>For Spanish, French &amp; German translations, see communications below / </em>
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<div><em>Para Español ver sección de "Comunicaciones" más abajo</em>
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<div>Dear families and friends. We are reaching out today on behalf of the MEF2C community to be able to help our children and fundraise in support of some life-changing medical treatment. My name is Lorena and I am asking for your help to raise funds to develop treatments, on behalf of my son and another 300+ little warriors that live with a rare genetic condition called MEF2C haploinsufficiency syndrome (MHS).
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<div>This is Elijah. Since he was born three years ago, we noticed some unusual development traits. But it was really at 8 months old when he had his first seizure that we understood that something was very wrong. On Elijah’s first birthday, we got the diagnosis of MHS, caused by full deletion of the MEF2C gene. Since then, life has not been easy. Elijah cannot sit independently; he is non-mobile and has severe developmental delay. His developmental age is about 4 months old. We are working hard with many hours of physiotherapy to help him gain mobility and improve his quality of life and ability to experience more of the world. Everything takes effort for him, but he takes it all on his stride and he is the happiest little boy we know. Yet we always have the looming worry of what will happen when we are no longer around. Elijah will always be fully dependent on others for even the simplest things, which would make him vulnerable without the protection of a parent or a loved one.
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<div>Elijah’s story is just one of hundreds (we will continue to update with more stories from families below). MHS is a devastating genetic condition that comes with severe consequences. When this gene is deleted or affected in any way, patients (mostly children) typically experience epilepsy, severe developmental delays, intellectual disability, vision impairment, autism, immunosuppression, and absent speech. These children are fully dependent on parents are carers for all their daily needs—eating, communicating, toileting, they need help on every aspect of their lives, for their entire lives.
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<div>At the time of writing, a <strong>treatment</strong> for this condition <strong>does not exist</strong>. Best case scenario, with their complex medical conditions managed, they might be able to live with 24/7 care, worst case scenarios the complex condition could get the best of them (as it has done for a few cases, due to them being more prone to infections having a weaker than normal immune system, and other health issues that come with reduced mobility) and reduce their lifespan.
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<div>However, there is hope, but to reach this dream we need your help. Within the last year, the group of MEF2C charities that are expanding globally, have been working with a lead researcher to establish a research program that could get at least <strong>two high-chance-of success treatments ready for clinical trials in the next 3 years.</strong> The techniques are already being used to treat other severe conditions so we have high confidence in their success and safety, but work is needed before we can use them on MEF2C. To be able to secure this agreement we need to commit to fund at least the first two years for a cost of <strong>500,000USD</strong>. This is a very modest amount considering the work that is going to be delivered, and we are very excited to have this line of sight to treatments that should reinstate the functionality of the MEF2C gene! MEF2C is part of the brain’s neurological toolbox, and researchers are confident that if we can get the brain a complete set of tools, it should start functioning normally again. This means children will be able to form new connections to help them develop and learn, potentially enabling speech, language and mobility.
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<div>If we can do this, and get these treatments approved, there is a chance that we will also be helping anybody out there affected with Autism, as MEF2C is believed to be related to all autism forms, which is just and incredible entitlement to aim for, and would help so many around the world.
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<div>We need to raise this amount within the next 1 month to be able to start the work (before the end of June). This goal is achievable. Due to the generosity of two anonymous donors, <strong>we need to raise 400,000USD</strong>, which we can do if 50 friends of each of our families donate just 25USD each. If you can help us by donating and distributing this appeal in your networks, we would be extremely grateful as this represents a real chance for all of these children and young adults to gain mobility, independence, and the ability to learn and live healthy lives.
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<div>Thank you so much!
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<div>MEF2C community (go to the MEF2C Foundation Website for more info! : <a href="https://www.mef2cfoundation.com" target="_blank" rel="noreferrer noopener">www.mef2cfoundation.com</a>
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June Stone

Debra DeViller

Mohanakumary Jijilal Ramachandran nair

Anonymous

Enrique Romero Aguila

Marie Cartledge

Grace Taylor

Ertürk Nazlican

Friederike Pfaff

Sahar Sherzada

francois bodereau

Stefan Dimitrov

Dietmar Schwarz

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