Hope for our son - funding a medicine for CYFIP2 EIEE

We are asking for your help and it has crushed my entire world to have to resort to this, But we have an opportunity to test potential treatments for our son.

My son just might be the happiest little boy on the face of the planet. Full of smiles and laughter and our life was complete the very second he was born. We love him more than anything.

Our son was diagnosed with a rare pediatric neurodevelopmental condition called CYFIP2 Early Infantile Epileptic Encephalopathy. A rare and spontaneously occurring "typo" in the CYFIP2 gene changed our lives forever.

At 2 months old, he started experiencing drug-resistant seizures. It took 4 anti-seizure medications to get them under control. At 6 months old, the infantile spasms began. The infantile spasms caused our son to lose the ability to smile and babble. He lost the joyful, happy expressions that lit up our life. We slept on the floor of his room for months because when he lost the ability to babble, we were afraid of him needing us during the night and not being able to communicate. We joined him in his room (instead of bringing him into ours) because he needed a heart rate monitor while on the spasm medication and is 100% fed by a feeding tube.

Today, he is 16 months old and is not sitting/crawling/standing/walking/talking and does not reach for/play with toys. Since the spasms have now resolved, he does smile and babble again though. He is at an increased risk for vision impairments due to this condition and his doctors believe he may have cortical vision impairment (CVI). There is currently no cure for this condition. Not even any FDA approved treatments.

We now know that there are other families with children who have this condition all over the world. A total of 29... in the world. Making this condition so rare that these families have waited years for research for a treatment.

We now have that opportunity. Some rare disease communities have been conducting drug repurposing studies: screening already FDA approved drugs to see if they have an effect on genetic conditions. With gene therapy costing millions of dollars and very hard to be approved for, drug repurposing would give our children a chance at a medicine that actually treats this condition. We have been holding local and online fundraisers every month to fund the research. We are doing everything we can. Your help and support would help our son, and the others, get there a little quicker, saving them time from experiencing more seizures and other symptoms associated with this. The funds from this gofundme would cover research costs at the university willing to do the study. Thank you.