The SYNGAP1 Village: How Extended Family Can Provide Vital Support

(If you are a SYNGAP1 parent, please share this blog with extended family and friends.)

Caring for a child with a rare disease like SYNGAP1-related disorders (SRD) is a journey no family should have to take alone. The phrase, “It takes a village to raise a child,” has never been more true than for families raising a “Syngapian.”

At the SynGAP Research Fund dba Cure SYNGAP1 (SRF), our mission is to “improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies, and support systems.” While parents are the primary caregivers, the truth is they often need significant help from their village.

This is where you come in. Whether you’re a grandparent, aunt, uncle, cousin, or close family friend, you have the power to make a difference. Many of the ways you can help require little time or money, and some can be done from anywhere in the world.

After reading the testimonials below, have a discussion with your loved ones to determine what type of support might help them and what you are able to provide, either directly, or through fundraising efforts, or by volunteering with SRF.

Remember, even a small gesture can make a world of difference.

John Hill grew up on Long Island but has lived on the North Jersey Shore for the past 40 years. He and his wife, Harriet, have 2 grown children and 3 grandchildren. Kiera, now 5 years old, was diagnosed with SYNGAP1-related disorders (SRD) in 2021 when she was 1-½. Megan Lipman, Kiera’s Mom, is sister to John’s son-in-law, Jim Seery, making John a granduncle to Kiera. John shares his involvement with fundraising for SynGAP Research Fund.

Even though I am not Kiera’s blood-relative, I have known the extended Seery family for over 35 years. I am incredibly blessed to have three healthy grandchildren who are in the same age range as Kiera, and they spend a lot of time together.

Kiera has had some of the traditional challenges resulting from SYNGAP1 – seizures, gastro issues, and is mostly non-verbal. That being said, we have seen progress as she can now walk with some oversight, and she can now say some words. Recently she has become more social, showing interest in interacting with other kids. These are important milestones, and we are excited about these recent developments.

I have been involved with Sprint4Syngap fundraising efforts for “Team Kiera”, and three years ago, I attended my first SYNGAP1 Gala in New Jersey organized by Nancy Kessler. After learning more about SYNGAP1 and meeting other affected families, I asked if I could help. Having had a fulfilling career in business, helping build a billion dollar company, it was now time to step up my philanthropic efforts, especially where I have a personal connection.

I believed that Nancy and I together would make a great team and she asked me to help her take the Gala to the next level. Nancy gladly handed over the MC duties to me as she does a tremendous amount of behind the scenes work. We’ve worked together since the 2023 event, setting records in attendance, revenue and profits. We bring together medical professionals, caregivers, and loved ones and highlight the Syngapian’s family journey.

As a current board member of another non-profit that also supports a childhood disease, I have some experience in this area. Alex’s Lemonade, which raises funds for childhood cancer research, is a 20 year old, mature organization with an experienced back-office support team, so my involvement is more strategic. Upon meeting SRF Managing Director Mike Graglia and Board President Suzanne Jones, I witnessed the commitment, passion, and leadership they provide for SRF, and they graciously welcomed me in as a board trustee.

It is challenging to raise money for a rare disease, but if you are passionate about the cause and have built up a network of friends and family, it can serve as a foundation for a special evening. At the Gala we have short presentations, a live auction of donated gifts as well specialty items from an auction house. We cap off the evening with a most important paddle raise.

The purpose of the Gala is primarily to create awareness of SYNGAP1 and raise funds for a cure. We have a first-class venue at Eagle Oaks Golf and Country Club in Farmingdale, NJ, a DJ to keep the night going, and we create a special evening so that people return each year. Our next Gala is on Friday, August 22, 2025, and we are excited to share another special evening with all attendees.

Through my role as a trustee, as well as by attending the annual SRF conference, I have met a number of parents who are quite special. Each parent’s passion, commitment and devotion to their child and to SRF is extraordinary. I am truly honored to be a small part of this incredible effort.

Back L-R: Kevin and Ashley Frye; Dave
Front L-R: Panda, Vicky, Nathan, Liam

Dave and Vicki Hewett live in Mississippi and are grandparents to 8-year-old Nathan. Nathan was diagnosed with SYNGAP1-related disorders (SRD) in 2021 when he was 3 years old. They write about how they, as SYNGAP1 Grandparents, help their daughter’s family.

Of course, we had never heard of SYNGAP1 and felt helpless at first but quickly realized that SYNGAP1 doesn’t just affect the child who has it – each family member is affected and needs support.

As any Syngap family knows, caring for that child is emotionally and physically taxing, especially on the parents. Our daughter Ashley and her husband Kevin became connected to the Syngap network of families through the internet and shared a great deal of information with us.

Though daunting at times, we recognized that our main contribution in the care and support of our grandson has been to love him and provide as much joy as we can. We periodically keep him at our home, sometimes overnight but sometimes just for a couple hours at a time. This not only gives Ashley and Kevin a break from caring for Nathan, but also allows them to spend quality time with their other child, Liam.

We also frequently help get Nathan to and from his various therapy sessions and do grocery shopping for them to help relieve their busy schedules. Currently he comes to our home for piano lessons.

We focus on Nathan’s capabilities not his incapabilities when we are with him, celebrating his success in counting, pronouncing new words, or his ability to sing and dance. When we can help him find joy or hear him laugh, then we feel we have succeeded.

Monetarily, we have contributed to fundraisers, encouraged family, friends and neighbors to contribute and helped with the purchase of his service dog, Panda.

We continually pray for Nathan, his family, and all SYNGAP1 families.

IN SUMMARY: PLEASE REMEMBER TO:
Spread awareness
Your help matters
Never give up
Give your love
Advocate
Pray for a cure

Terry Esswein is proud to be Miller Miles’s grandmother, or as he lovingly calls her, his GeGe. Terry describes how she feels incredibly grateful to have been able to move to South Carolina to live closer to Miller allowing her the ability to support her daughter Julie and son-in-law Michael Miles.

I have the privilege of being one of Miller’s Personal Care Assistants. Miller is truly my heart. While he’s wonderfully independent, he does need a good bit of help with certain things. During the school year, I assist with picking him up from school, getting him off the bus and taking him to therapy. I also help care for Miller, his younger brother, and their sister, so that Julie and Michael can have the occasional moment to rest, run errands, or simply take a breath.

For the past four years, our family has hosted the Scramble for Syngap golf tournament, a fundraiser benefiting the SynGAP Research Fund. It’s been a true honor to volunteer at the tournament each year, helping wherever I’m needed. Through this event, and all year long, we are committed to raising awareness about SYNGAP1-related disorders. Every dollar raised helps move us closer to the treatments and breakthroughs our precious children and grandchildren deserve.

Harper (2nd from right) with her brothers and sisters

George Lynch is grandfather to 9-year-old Harper, who was diagnosed with SYNGAP1-related disorders (SRD) in May 2018. Following her diagnosis, Harper’s parents, Jen (George’s daughter) and John, have been providing her care while raising their other four children. Having begun volunteering with SRF recently, George encourages others to join the team.

Parenting a child with SYNGAP1 can pose significant challenges, and I have always looked for opportunities to contribute and help my daughter and family. After a 45-year career in technology sales, I chose to help SRF by supporting fundraising efforts starting in early 2025.

Working with the SRF volunteer team of parents, grandparents, and others has been extremely rewarding. Although I was already familiar with SYNGAP1, this experience has allowed me to better understand its effects on children and families and highlighted how volunteering can raise awareness and funding needed to drive progress for improving children’s lives.

Although progress has been made, significant work remains. Working toward a cure for a relatively recently discovered disease, the SynGAP Research Fund faces challenges competing for funding, making awareness essential for raising vital research support. I urge anyone with time to volunteer—helping families affected by SYNGAP1 is both important and rewarding!

Bapa and Nonnie with Cole (far left) and his siblings, Graham and Jade

Ed Gabler is father of three and grandfather (Bapa) to four. Cole, his second grandson, is 8 now and was diagnosed with SYNGAP1-related disorders (SRD) in 2019 at the age of 2-½. Ed and his wife, Donna (Nonnie), are retired and live in northeast Ohio, close to Cole’s family, which includes Ed’s eldest daughter, Cole’s Mom, Jess Fares. Ed hopes that his involvement with SRF will motivate other grandparents and retirees to join the SRF team.

My wife and I have lived in Ohio since Cole was born. We regularly spend several days each week with the kids, helping our daughter’s family whenever and however we can. This became even more important when we found out that Cole had SYNGAP1, a rare disease without a cure and no guidebook on how to manage its effect on Cole.

Caring for a grandchild with SYNGAP1 isn’t easy, and being comfortable with it doesn’t happen overnight. It takes time to learn how to care for a child who can’t verbalize what they want and who shows no concern for danger. By spending a lot of time with Cole, we have learned what he likes, how to comfort him, and what makes him laugh. Through his actions, we can interpret what he wants. He’ll take us to get a snack, lifting our hand toward the shelf to show us what he wants. He’ll hand us his iPad when the case isn’t snug so we’ll tuck it in.

When he wants me to chase him, he’ll take both of my hands and put them down in front of me. After he drops my hands, he turns to run away and looks back over his shoulder to make sure I’m following. When he wants Nonnie to tickle him, he’ll bring her to the couch, fall back, and lift up his legs. Without using a single word, he speaks to us every day.

Still, with years of experience, we don’t always get it right. We still don’t always know what he wants, or he doesn’t understand why he can’t have something. That’s when frustration sets in and tantrums start. Through the years, he has exhibited biting and scratching others and himself, head banging on the hardwood floor, biting his knees rapidly and repeatedly, and screaming. These can last anywhere from a few seconds to a half hour or sometimes even more when he’s especially inconsolable.

As difficult as taking care of him can be at times, the joy Cole brings to our lives is priceless. His laughter teaches me to enjoy the little things in life. I’m more patient now than I’ve ever been thanks to Cole. We’ve spent months or even years teaching him to take bites of a sandwich or pick up a banana. We’re still working with him to throw his empty yogurt pouch in the garbage instead of in Mom’s shoe or the silverware drawer! And I envy Cole’s ability to forgive me just minutes after I’ve told him, “No” to something he seemingly cannot live without.

I’m not a spring chicken, and I want to do whatever I can with the time I have left on this Earth to make a difference in Cole’s future. That’s why I started volunteering with SynGAP Research Fund in 2022 – to help SRF cure SYNGAP1. I also volunteer for a selfish reason – I want to be around when there is a cure to see how it helps him and others.

SRF has more than 150 volunteers helping in so many big and small ways. As a retiree, I have the luxury of devoting more time than most volunteers. Most are parents of Syngapians – parents who somehow find a way to devote what little spare time they have to help. There are so many opportunities available, so much more SRF could do. I would love to see more grandparents and other retirees join our team.

It won’t be long before Cole’s faster than me, and I won’t be able to chase him when he escapes. Already I have concerns and take precautions to cover the numerous “What ifs” that could happen when Cole is in my care. As I get (even) older, I’ll get weaker while he’ll grow bigger and stronger. Knowing this drives me to spend as much time as possible with him now.

Every day without a cure matters – it’s one more day our families suffer; it’s one more day dealing with insurance rejections, seizures, sleepless nights, hospitalizations, tests, and more tests. It’s one more day lost of a life that could have been. It’s one more day lost of what we could have done to help.

Every day is worth the effort to help my family and help SRF find a cure.

Below is a summary of several ways extended families can help parents, patients, and families living with SRD. There’s something for everyone to become part of the village raising our Syngapians.

1. Emotional Support: Be Their Anchor

Listen, Don’t Judge: Parents are likely navigating a whirlwind of emotions – grief, fear, exhaustion, and fierce love. Offer a safe space for them to vent, cry, or simply talk without judgment or unsolicited advice. Sometimes, just knowing you’re there to listen is the greatest gift.
Acknowledge Their Journey: Recognize that parenting a child with special needs is a marathon, not a sprint. Acknowledge their strength, their tireless efforts, and the unique challenges they face. Simple phrases like, “I see how hard you’re working,” or, “You’re doing an amazing job,” can mean the world.
Enjoy the inchstones: Rare patients typically progress at a slower rate than neurotypical individuals, sometimes after months or years of trying something. That’s why some refer to “milestones” as “inchstones” for Syngapians and others with a rare disease. Be patient if mastering a task takes longer than expected, and celebrate when success is achieved. Remember to look for the silver lining every day!
Offer Respite, Not Just Babysitting: Beyond a typical babysitting session, offer true respite. This might mean watching your grandchild so your children can go on a date, run errands without interruption, or even just take a nap. Underscore that this is a gift of self-care for them. What do they need? Support? A night off? Help around the house? An ear? A shoulder?

2. Practical Assistance: Lending a Helping Hand – with permission, of course!

Become a Knowledge Seeker: Offer to help research resources, therapies, or support groups. This can lighten the parent’s load significantly, but always ask first – don’t assume they want you to take on this role.
Help with Daily Chores: Simple acts can make a huge difference. Offer to help with laundry, meal preparation, grocery shopping, or light housework. These tasks often fall by the wayside when a family is managing complex medical appointments and therapies.
Transportation Support: If you’re able to drive and live close enough, offer to help with transportation to appointments, therapies, or school. This can be a major time-saver for parents who are already stretched thin.
Sibling Support: Don’t forget about the rest of the family! Siblings of Syngapians often need extra attention and understanding. Offer to spend one-on-one time with them, take them on outings, or help them with homework.

3. Financial Contributions: Easing the Burden (if financially able to do so)

Direct Financial Aid: The costs associated with SRD care can be substantial. Offer financial assistance for therapies, equipment, medical bills, or even just everyday expenses.
Establish a Fund: Consider setting up a dedicated savings or education fund for the family. This can provide long-term security and peace of mind for their future.

4. Volunteering: Get Involved On Your Own Terms

Volunteer with SRF: Becoming involved with SRF will not only advance our cause to find a cure and support families, but you will be directly involved with reducing the timeline for a cure that we hope is just around the corner. We have a multitude of remote opportunities in all aspects of our organization. We can easily find a spot for you on our team that will utilize your special skills, interest, and availability to help SRF find a cure.
Host a Fundraiser: Raising funds is especially important now that budget cuts are impacting federal support for rare disease research as well as other programs that have helped our families in the past. If you can’t host your own event, support those of others.
Attend the Cure SYNGAP1 Conference: There is no better way to become involved and learn about the path to a cure than to attend the Conference. If you cannot attend, perhaps you can offer childcare to allow their parents to go.

5. Advocacy: Being Their Champion

Educate Yourself: Learn about SRD. The more you understand, the better equipped you’ll be to support your family.
Be an Advocate: When appropriate, be an advocate. This might involve speaking with others in your neighborhood or family, posting appropriate content on social media to spread awareness, challenging misconceptions, or simply ensuring your Syngapian’s needs are met in various social settings. It could also include speaking with your local, state, or national governmental representatives. We can help teach you how.
Promote Inclusion: Encourage inclusive activities and environments for your Syngapian. Help find opportunities for them to participate and thrive in their community.