Timothy Syndrome Foundation

02/28/2026

❤️💙 Rare Disease Day 2026 💙❤️

Timothy Syndrome is rare.

But the fear is real.
The hospital stays are real.
The long nights watching monitors are real.
The strength of our families is very real.

Today isn’t about statistics.
Today is about the children who fight quietly.
The parents who become medical experts overnight.
The siblings who grow up faster than they should.

At the Timothy Syndrome Foundation, we don’t take “rare” lightly. We carry it with purpose.

We build partnerships because no one should navigate this alone.
We support one another because community matters — especially when the diagnosis feels isolating.

If you are part of this community — We See You
If you support this community — Thank You
If you are just learning about Timothy Syndrome today — Welcome

Rare doesn’t mean small. Rare means powerful.

02/02/2026

💖 February is Heart Month 💖

For families affected by Timothy Syndrome, the heart is never something we take for granted.

Timothy Syndrome is a rare genetic condition that places children at risk for life-threatening heart rhythm abnormalities. For our families, heart health isn’t just a topic for February—it’s part of everyday life.

This Heart Month, we honor the strength of our children, the resilience of parents and caregivers, and the medical professionals who walk alongside our community. We also recommit ourselves to supporting families with education, advocacy, and access to resources that can help protect the hearts we hold closest.

💚 Rare doesn’t mean invisible.
💚 Awareness saves lives.
💚 Every heartbeat matters.

Thank you for standing with the Timothy Syndrome community this Heart Month.

11/28/2025

We’re excited to share highlights from our recent trip to Brazil, where we strengthened global research collaboration and connected with Timothy Syndrome families in São Paulo and Porto Alegre.

We met with leading pediatric neurologists, joined the Brazilian Epilepsy Association’s annual conference, and visited Casa dos Raros—a hospital dedicated entirely to rare diseases. Most importantly, we spent time with TS families who shared their stories, their challenges, and their hopes. 💙

This work helps us build a stronger, more connected global community for everyone affected by Timothy Syndrome and CACNA1C-related disorders.

Read the full update here:
https://timothysyndromefoundation.org/timothy-syndrome-research-collaboration-brazil/

09/12/2025

Join Us in Honoring Super Lee - 10th Anniversary Fundraiser

Dear Friends and Family,

This year is a milestone. It marks the 10th anniversary of our son Lee’s passing on November 24, 2015—our “Super Lee”—and the 10th Annual Super Lee Golf Tournament, taking place at the Aviara Golf Club in Carlsbad, CA on Sunday, September 28th.

Lee lost his life at just 5½ years old to Timothy Syndrome, an ultra-rare condition that can cause life-threatening arrhythmias, hypoglycemia, developmental delays, and other serious complications. With fewer than 100 cases identified worldwide, community and research support are critically important.

In 2015, I co-founded the Timothy Syndrome Foundation (TSF) to support families like ours. The following year, our dear friend Mike Harrington began the first Super Lee Golf Tournament to honor Lee and help us through our grief. What started as a tribute has become TSF’s largest annual fundraiser, raising more than $172,000 to date.

This year, we’re aiming for nine straight years of growth by raising $50,000 in honor of Super Lee, the “forever five-year-old.” Funds raised directly support families in their biggest needs as well as the TSF Family Conference, which brings together families, researchers, and clinicians to share the latest advancements in care and provide hope and connection.

❤️ Click here to donate today - https://timothy-syndrome-alliance-inc.snwbll.com/10th-annual-super-lee-golf-tournament-fundraiser-for-timothy-syndrome-foundation ❤️

Thank you for helping us honor Lee’s legacy and bring hope to Timothy Syndrome families.

With love,
Mary Ann, Christian & Evelyn Ann Ciciarelli

09/09/2025

We are deeply grateful to Santiago Canyon College for highlighting Timothy Syndrome at their annual STEM Conference, attended by more than 170 students, faculty, and partners.

A special thank you to Ayesha Lakhany, the first SCC student to ever present at this conference, for courageously sharing insights on Timothy Syndrome. By bringing awareness of this rare condition to a STEM audience, Ayesha is helping spark conversations that matter.

We also extend our appreciation to the SCC community and its partners at California State University, Fullerton, and the Irvine Ranch Water District for supporting an event that celebrates innovation, collaboration, and student success.

Awareness leads to progress, and together, we are fostering greater understanding.

07/08/2025

Farewell to Alice Laura
Written by Katherine W. Timothy

The Timothy Syndrome Foundation wishes to express gratitude to Alice Lara for her many years of service to and promotion of the SADS (Sudden Arrhythmia Death Syndromes) Foundation.

Back in 1991 when Dr. G. Michael Vincent, David Salisbury, Doris Goldman and I worked together to organize SADS, our combined mission was to help the grieving parents and families who had lost children to sudden unexplained death. In most cases these childhood deaths resulted from the little known arrhythmia disorder, recognized now as the Long QT syndrome.

It was a great blessing when Alice was hired, as she brought with her great knowledge of the medical professional community, and a remarkable organizational understanding of how foundations
work. Under Alice’s leadership and care, SADS has grown from a small, little-known foundation into a major player for cardiac care, as well as scientific and pharmaceutical research.

With Alice’s generous and helpful nature, in 2016 she extended an opportunity for help to another cardiac concerning condition, Timothy syndrome (TS). Alice suggested an association for TS with SADS for greater awareness and educational help in treating the cardiac aspects of this rare LQT associated disorder. Mary Ann Cicarelli, Courtney Waller, and I were able to found the Timothy Syndrome Alliance under SADS, and under Alice’s care and SADS
resources we were able to invite our TS families to join together for the first time.

Our later gatherings became so successful under SADS that we were able to invite others from around the world, this enabled us to help families with TS, LQT8 and CACNA1C conditions internationally.

Although the Timothy Syndrome Foundation is now independent, words cannot express the gratitude for our early beginnings and opportunities to move forward under Alice. The Timothy syndrome, LQT8 and CACNA1C care within families and research are moving forward, but we remain sincerely indebted to the early encouragement, leadership and genuine care of my friend, ALICE LARA.

Join us as we celebrate Alice's retirement.

06/25/2025

We’re excited to welcome Rosie Bauer, PhD as the new Executive Director of the Timothy Syndrome Foundation!

Rosie was first introduced to Timothy Syndrome while working in Dr. Andy Golden’s lab at the NIH, where she studied the effects of CACNA1C variants on cell health and physiology. Andy was a phenomenal mentor who encouraged his trainees to think beyond the lab and engage directly with rare disease communities. Because of that encouragement, Rosie had the opportunity to attend SADS Foundation and Timothy Syndrome Foundation meetings—an experience that was pretty outside the norm for most lab researchers!

Those moments left a lasting impression. Meeting patients with TS and their families sparked a deep passion for advocacy and community building. After her time at the NIH, Rosie pursued her PhD in genetics at Northwestern University. Now, with a strong research background and a love for science communication, she’s excited to bring her unique experience and heartfelt commitment to the TS community in her new role at TSF.

Please join us in welcoming Rosie to the TSF family! We’re so grateful to have her leadership, expertise, and heart guiding us into the future.

05/11/2025

Today, we celebrate the extraordinary women whose love shapes the Timothy Syndrome Foundation.

To the moms navigating daily appointments, late-night worries, and moments of unexpected joy —

You are a hero

To the moms who carry their child’s memory with every breath —

You are a heart hero.

Whether your hands are full or your arms are aching, your love is at the center of everything we do.

We see you. We honor you. We walk with you.
Happy Mother’s Day from all of us at TSF.

Tag someone you’re honoring today. Share a name. A photo. A memory. A heartbeat.

04/30/2025

Important Research Update: Why Stress and Activity Matter in TS

Dr. Maiko Matsui, working in Dr. Geoffrey Pitt’s lab at Weill Cornell, has made an important discovery about heart risks in Timothy Syndrome (TS).

Using a TS mouse model, she found that when the mice were given a drug that mimics stress (isoproterenol), over half developed dangerous heart rhythms — and sadly, many did not survive. In contrast, the control group mice did not have these reactions.

This research shows what many families already worry about: stress, excitement, and physical activity can trigger serious — even life-threatening — arrhythmias in children with TS.

Dr. Matsui’s findings bring us one step closer to better understanding how to protect and care for those with TS.

03/10/2025

Understanding Hypoglycemia & Timothy Syndrome

Did you know that hypoglycemia (low blood sugar) can be a serious concern for individuals with Timothy Syndrome? Managing blood sugar levels is critical, but it can be challenging.

To help families navigate emergencies, we’ve included a downloadable letter in this article that you can take to the ER to ensure your loved one receives the care they need.

Read the full article here: https://buff.ly/DgjFdMP

If your family has faced challenges with hypoglycemia, feel free to share your experiences in the comments. Your story could help another family!

Learn how hypoglycemia uniquely affects individuals with Timothy syndrome, a rare genetic disorder. Discover the vital strategies for managing low blood glucose levels to reduce risks of cardiac events, support cognitive development, and improve overall health outcomes.

03/08/2025

Such a wonderful tribute to Andy and SADS ❤️

The Andy Golden Memorial Fund - generously established by his wife and daughter through a $50,000 endowment to the SADS Foundation - continues a legacy of support and research for rare heart conditions.

Andy Golden, Ph.D. was a Senior Investigator and Section Chief with the National Institutes of Health (NIH), where he is remembered as a brilliant scientist and mentor. Andy was instrumental in the advancement of research for Timothy Syndrome (TS), a rare genetic condition supported by SADS that affects a child’s heart, nervous, and immune systems. He drew inspiration from the TS parents and kids he met at the SADS conference and went on to successfully model a TS worm in his lab to improve the symptoms of TS kids.

“Andy was a natural leader among our families - it was particularly evident by his popularity at our conferences,” says Alice Lara, RN, Executive Director of the SADS Foundation. “It is in keeping with Andy’s many generous donations to SADS over the years, that Alexandra and Zoe created this fund ensuring the tremendous generosity Andy showed in donations, his time, knowledge, and energy will continue to be felt by families even as his physical presence is terribly missed.”

Read our press release at https://sads.org/wp-content/uploads/2023/07/Andy-Golden-Endowment-Press-Release-2025.pdf.