We are two parents on active duty fighting for a treatment for our little boy, Lucas. Lucas was diagnosed with a rare and severe neurodevelopmental condition called CYFIP2 Developmental and Epileptic Encephalopathy (DEE). There are no approved treatments and there is no known cure.

OUR STORY

We are two parents on active duty in the Army with 35 years of combined service. We started our family in June 2024 and gave birth to a beautiful little boy, Lucas. The pregnancy was beautiful with no issues. His birth was perfect, he was perfect, and he still is!

At just two months old, our lives changed forever. Lucas began experiencing seizures. The seizures were drug resistant and did not respond to standard treatments. After a long stay in the hospital to determine the cause of the seizures, we agreed to genetic testing. The results showed one small typo in the CYFIP2 gene leading to the diagnosis of CYFIP2 DEE. There are less than 40 children in the world (as of today) with this condition and we were determined to speak to these families. The more we searched, the worse the situation became. During the many follow up appointments, conversations with other families and as time went on, we learned that seizures are just one symptom of this condition. The seizures evolved into infantile spasms, he stopped meeting developmental milestones, he stopped eating, his vision became impaired, his blood counts were concerning, the list goes on and on. At almost 2 years old now, our son relies on a feeding tube and works hard each day to learn how to sit independently, crawl, walk, speak and eat. It is hard for him to reach for toys and play. We hope and pray that our son can just live a child’s life, be able to run, pretend and play.

After the diagnosis and the chaotic period of managing symptoms that followed, our family needed to heal. This took many months and when we finally understood it all, we were ready to fight for a treatment. We formed the CYFIP2 Network, an international group of parents formed into a nonprofit organization advocating for our children.

By forming the advocacy group, it unfortunately did not get better. What if I told you that advocacy and family involvement just isn’t enough? Money is what funds treatments. Research grants to universities and organizations who can conduct the tests.

The world has become interested in rare diseases and there are a growing number of grants and resources for the groups like ours that choose to fight for a treatment. However, conditions that are fatal are prioritized (and for good reason). That leaves us in this gray area, even though seizures can be fatal especially when difficult to control. Children with CYFIP2 DEE have a different kind of childhood. Many are non-mobile, non-verbal and suffer from severe seizures. To be given the chance to one day be able to walk, run, stand, eat, speak and live seizure free is what we are asking for. These children deserve that chance. But, a treatment for 40 children comes with little financial gain, leaving no incentive for companies to develop a treatment on their own. This leaves the fight to us.

We are fundraising to identify drugs that can be repurposed for this condition and to test these medicines in preclinical studies. We are also fundraising to test newer genetic therapy approaches. We work with a few research organizations and the CYFIP2 Network was recently awarded a mouse model to help researchers conduct these tests. Raising the funds for these studies has been challenging and we are asking for your help.

There are a few ways you can help us do this. Please donate in any way you are able to. Please share this EVERYWHERE. It just might reach people who can help us fund these studies.

You can also donate directly to the CYFIP2 Network: EIN 93-4821164, IRS nonprofit lookup tool: https://apps.irs.gov/app/eos/

Or you can donate on our website fundraising page: https://secure.givelively.org/donate/cyfip2-network-inc/a-cure-for-cyfip2-dee

You can also see more information about our efforts at: www.cyfip2network.org

For large donations over a few thousand dollars, we recommend sending a check or doing a wire transfer to the CYFIP2 Network to avoid website processing fees.

Sharing any of these pages helps us to reach more people! Thank you.