Cyfip2 Network

10/08/2026

MEET KIKI!

Today, we are proud to introduce another incredible family behind our mission: Kiki and her mom, Melissa!

Melissa reached out to the CYFIP2 Network shortly after Kiki received her diagnosis. Like so many families navigating this diagnosis, they were still in the early stages of trying to understand what CYFIP2 meant for their future. They were searching for answers, learning everything they could, and exploring every possible avenue to help Kiki receive the care and support she deserves.

Welcoming a new family into our CYFIP2 community is always a bittersweet experience. On one hand, we are grateful to connect with families who understand this journey in a way that few others can. Having a community to lean on, share experiences with, and learn from can make an incredible difference. But on the other hand, we wish no family ever had to experience the uncertainty and challenges.

When answers were difficult to find, Melissa didn’t give up! She kept asking questions, kept advocating, and kept searching until she found the right medical professionals and support systems to help Kiki. Her persistence is a powerful reminder of just how much parents of children with CYFIP2 often have to advocate to ensure their children receive the care they need.

But Melissa’s determination doesn’t stop with advocating for her own daughter.

Today, Melissa and Kiki are helping raise awareness for CYFIP2 by sharing their personal journey with others. Through their story page and video storytelling, they are offering a glimpse into their everyday lives, including Kiki’s feeding routine.

These moments of storytelling are incredibly important. They bring awareness to the daily realities that many families navigate, challenges that often go unseen by the outside world.

And perhaps most importantly, sharing these experiences helps other families feel a little less alone.

🧬🩵 Please take a moment to meet Kiki and to read her family’s story!

http://tiny.cc/KikisPage

10/08/2026

MEET NOAH ☺️

Today, we want to recognize a special CYFIP2 Ambassador family who has been advocating for CYFIP2 research and a brighter future for our children for years.

When our son Lucas was diagnosed with CYFIP2-DEE, we never could have imagined the incredible families we would meet along this journey. One of those families is Noah’s.

Last year, we had the opportunity to travel and meet Noah, his siblings, and his parents in person! It was an incredibly meaningful experience for us. There is something comforting about meeting another family who just gets it. A family who understands the challenges, the uncertainty, and the little victories that mean so much.

Noah’s family welcomed us with open arms and happily shared their experiences with us. We quickly discovered just how many similarities there were between Noah and Lucas. In so many ways, it felt like Lucas had instantly made a friend who understood him without needing to say a word.

For years, Noah’s family has been dedicated to advancing CYFIP2 research. They have explored countless avenues, searching for answers and opportunities that could make a difference for Noah. Their determination reflects something so many rare disease families share: the willingness to keep searching, keep advocating, and keep hoping.

Recently, Noah’s family created their own fundraiser, sharing their personal story and why advancing CYFIP2 research means so much to them.

Today, we’re asking you to take a moment to meet Noah. Read his story. Get to know the incredible boy and his family behind this mission.

Every family that speaks up brings more awareness to CYFIP2. Every story shared helps others understand why this research matters.

To Noah’s family: We are so grateful that this journey brought our families together!

🧬 Read Noah’s story here: http://tiny.cc/NoahsPage

10/07/2026

Can we get 5 people to share this post and help us spread awareness? 🩵

For most people, CYFIP2 is a name they’ve never heard before. We hadn’t either… until our son Lucas was diagnosed.

CYFIP2-DEE (CYFIP2-related developmental and epileptic encephalopathy) is an ultra-rare genetic neurological disorder caused by disease causing changes in the CYFIP2 gene. This gene plays an important role in the brain, including how neurons develop and communicate.

For affected children, changes in CYFIP2 can lead to significant developmental challenges. Depending on the child and their specific genetic variant, this can include developmental delay, intellectual disability, seizures, low muscle tone, movement difficulties, feeding challenges, and limited or absent speech.

And because CYFIP2-DEE is so rare, there is still so much we need to learn.

There is currently no approved treatment that targets the underlying cause of CYFIP2-DEE. But that doesn’t mean there is no hope…

Researchers are studying CYFIP2 and working toward something families like ours desperately need: treatments that could one day address the disease itself, rather than only managing its symptoms.

That’s why awareness matters.

More awareness brings more people into our mission.
More research brings more answers.
More funding gives promising science the opportunity to move forward.

Children like Lucas are the reason we keep pushing.
We are asking 5 people to share this post so more people can learn about CYFIP2!

Learn more at www.cyfip2network.org

10/07/2026

🧬 WHAT CAN $500 REALLY DO FOR CYFIP2?

When you’re talking about rare disease research, it’s easy to look at the enormous cost of developing treatments and wonder:

“Will my donation really make a difference?”

It can.

Right now, researchers are testing promising compounds related to CYFIP2, and this work is getting closer to its next stage.

For families like ours, that means something incredibly important:

Progress.

When Lucas was diagnosed, we had never heard the letters CYFIP2 before.

There was no roadmap handed to us. No established treatment designed for his condition. We had to start learning, connecting with researchers, and asking what could be done to change the future for children like him.

Today, we have something we didn’t have at the beginning:

Progress towards that goal!

That’s why we created our CYFIP2 Ambassador Campaign.

5 Ambassadors
$500 goal each
$2,500 toward advancing CYFIP2 research

But this campaign is about more than reaching a fundraising number.

Every Ambassador who shares their story introduces CYFIP2 to people who may have never heard of it.

Every person who shares a post expands our community.

Every donation says that rare should never mean forgotten.

CYFIP2 deserves people willing to believe that progress is possible and willing to help us pursue it.

🩵 5 people. 5 stories. One mission.

Help us move CYFIP2 research forward. Create your page here: http://tiny.cc/CYFIP2Ambassador

10/07/2026

🩵 WE’RE LOOKING FOR 5 CYFIP2 AMBASSADORS! 🩵

When our son Lucas was diagnosed with a CYFIP2-related disorder, we had never even heard of CYFIP2.

Like so many rare disease families, we suddenly found ourselves learning about a condition we never knew existed and searching for answers that simply weren’t there.

But we’ve learned something incredibly important along the way: when a rare disease community comes together, we can help move research forward.

Right now, ongoing research is testing promising compounds and is getting close to its next stage. To keep that work moving forward, funding is needed.

That’s why we’re looking for 5 people to become CYFIP2 Ambassadors and help us turn their stories into action.

As an Ambassador, we’ll help you:

Share your “why.” Tell others why you support CYFIP2 research, whether CYFIP2 has touched your family personally or you simply want to stand beside our community.

Create your own fundraising link through our campaign and personalize it with your story.

Set a goal of raising $500. Five ambassadors reaching $500 each could mean $2,500 toward helping CYFIP2 research move forward.

Help more people learn about CYFIP2. Every story shared introduces someone new to this incredibly rare condition and helps them understand why support for potential treatments is so critical.

You don’t have to be a CYFIP2 parent to be an Ambassador. You can be a grandparent, relative, friend, coworker, rare disease advocate, or simply someone who believes these children deserve a chance at better treatments.

Our families may be few, but our voices don’t have to be small.

If you’d like to be one of our 5 (or more!) CYFIP2 Ambassadors, comment below or send us a message at [email protected]. Create your personal story page here: http://tiny.cc/CYFIP2Ambassador

5 Ambassadors. One shared mission: move CYFIP2 research forward.

10/05/2026

Every rare disease sample can move research forward.

Coriell Chief Biobanking Officer Dr. Nahid Turan recently joined CNBC Cures to discuss the critical role biobanking plays in rare disease research and why patient participation matters.

At Coriell, individuals with rare diseases can bank their genetic samples at no cost, helping create valuable resources that researchers worldwide can preserve and share. For rare diseases, where patient populations and research materials can be limited, each donated sample can help scientists better understand disease biology and explore new paths toward treatment.

Dr. Turan's interview highlights Coriell's biobanking expertise and how patients and families can help power future rare disease research through sample donation.

Read the full CNBC Cures interview: https://link.cnbc.com/public/47760577

09/29/2026

Every contribution helps provide researchers with the resources needed to better understand CYFIP2, explore potential treatments, and move promising discoveries closer to the children and families who need them.

🔬 Your donation can help turn questions into answers, research into treatments, and hope into progress.

Together, we can move CYFIP2 research forward. Please consider sharing or donating today. 🧬💛

https://tinyurl.com/CYFIP2DEE

09/27/2026

🧬Latest Research:

Time-resolved phenotyping of seizure evolution in developmental and epileptic encephalopathy: insights and gaps from the CYFIP2 Arg87Cys mouse model.

In developmental and epileptic encephalopathies (DEEs), the seizure phenotype is rarely static. Infantile epileptic spasms typically subside and are often re...

04/27/2026

CYFIP2 is often talked about in the context of seizures but it’s becoming clear that the story is much bigger.

Researchers have found that CYFIP2 doesn’t just impact the brain (central nervous system), but may also play a critical role in the peripheral nervous system, specifically in how nerves connect to muscles that control breathing. In a recent study, disruptions in CYFIP2 led to abnormal development of the phrenic nerve and impaired organization of the neuromuscular junction in the diaphragm, which is essential for respiration.

What does this mean for our community?
It reinforces what many families already see every day: CYFIP2-related disorders are not just epilepsy. They can involve complex, whole-body systems, including breathing and neuromuscular coordination.

As research continues to evolve, it’s validating the full picture of what families experience and opening the door to more comprehensive care and targeted therapies.

Read the study here: https://link.springer.com/article/10.1186/s13041-026-01301-6