05/29/2026
Day 1651.
Welcome to the Luca Rising Foundation.
If you're new here, we're honored that you've found your way to our community. The Luca Rising Foundation was born from our journey through the unimaginable. What began as a fight for a chance at life for my son Luca became a mission much larger than we ever imagined.
Through years of hospitalizations, medical isolation, rare disease, trauma, fear, advocacy, uncertainty, and hope, we discovered that no family facing complex medical challenges should have to walk this path alone. Our foundation exists to empower families impacted by congenital athymia, rare disease, and medical complexity through advocacy, awareness, community, and support. We believe that every family deserves access to resources, understanding, and a network of people who truly understand the journey.
The name "Luca Rising" reflects the heart of our mission. It is a reminder that even from the hardest moments, hope can emerge. It represents resilience in the face of adversity, strength through uncertainty, and the belief that together, we can rise above the challenges that seek to define us. Luca was born in the ashes of a fire he never deserved. He rose over the prognosis and has been pushing barriers ever since.
Whether you're a fellow rare disease family, a supporter, a healthcare professional, an advocate, or simply someone who wants to make a difference, we're grateful you're here. Together, we are building a community where awareness becomes action, where support becomes connection, and where every medically complex child is seen, valued, and celebrated. This is more than a foundation. This is a movement built on hope, fueled by advocacy, and inspired by the incredible children and families who continue to rise every day.
Most of us go through life never once thinking about the thymus. Tucked quietly behind the breastbone and near the heart, this small gland does one of the most important jobs in the human body: it trains and develops the T cells that form the backbone of our immune system. For children born with congenital athymia, that shield simply isn't there — and the consequences are devastating. Shining a light on one of the most overlooked ultra-rare conditions in the world, congenital athymia, is especially important for the future of children like Luca.
Congenital athymia is an ultra-rare condition in which a baby is born without a functioning thymus. Because the thymus is the only organ where T-cell progenitors can mature and be selected to fight infections, its absence results in a profound immunodeficiency that leaves infants almost completely defenseless against viruses, bacteria, and fungi. Without a thymus, children have virtually no T cells. They suffer from chronic and recurrent infections and struggle to grow and gain weight. Left untreated, congenital athymia is fatal. Most children without intervention do not survive beyond their first birthday. In the United States, only an estimated 15 infants are born with congenital athymia each year. This condition is so rare that many physicians will never encounter a single case in their entire careers.
Congenital athymia is almost always a feature of a broader condition. The most common underlying diagnoses are chromosome 22q11.2 deletion syndrome (which includes complete DiGeorge syndrome like Luca has) and CHARGE syndrome, a condition affecting multiple body systems. It can also result from mutations in genes that directly affect thymic development, such as FOXN1 and PAX1, or from environmental exposures during pregnancy. In profoundly rare cases like one of our bubble buddies, Syanne, there is no known reason for it. Regardless of the cause, the outcome is the same: a baby born without the cellular machinery to fight infection. Luca was born with 22q11.2 deletion syndrome, a complicated syndrome that has wreaked havoc on his entire body.
While athymia takes away the life we all planned for and expected, there is hope amid the despair. Thymus transplantation, Rethymic. Thymus tissue harvested from infants undergoing cardiac surgery can give children like Luca a functioning immune system. The donated tissue is implanted into the recipient's thigh muscles, where it acts as a new thymic environment, allowing the child's own bone marrow stem cells to travel there and develop into T cells. In October 2021 the FDA approved RETHYMIC® (allogeneic processed thymus tissue) as the first tissue-based treatment specifically for congenital athymia, a landmark milestone for the rare disease community. In a study of 105 patients treated over more than 25 years, researchers at Duke University demonstrated a 77% survival rate — remarkable for a condition that was once a near-certain death sentence.The key to the best outcomes? Early diagnosis and transplantation before serious infections take hold. Newborn screening programs for severe combined immunodeficiency (SCID), now required in all 50 U.S. states, have become an invaluable tool in catching congenital athymia early, as athymic infants show up on the same screening marker. Luca was the third baby to be treated following FDA approval and was flagged for SCID on his fifth day of life thanks to the newborn screening.
Numbers and clinical data only tell part of the congenital athymia story. The other part — the human part — is what I aim to share by advocating and sharing our story. Luca was born with congenital athymia making him incompatible with life without profound medical interventions. Chronicling our life and journey navigating this rare disease has helped to raise awareness and support others navigating athymia. Surviving congenital athymia requires families to completely put their lives on hold. It's not just the relentless medical appointments, the isolation required to protect a child with virtually no immune system, the uncertainty of waiting for a transplant, and then waiting and hoping for a successful transplant and immune system reconstitution. It's the career interruptions, the financial strain, the social isolation, and the emotional weight of navigating largely uncharted medical territory — often without a community of families who truly understand what you're going through.
With so few cases each year, families of children with congenital athymia often feel profoundly alone, in reality, they are alone. This is an emotional aspect of athymia that I still deeply struggle with myself. Kids with medical complications are often viewed as being ‘less than’ in every way, kids with athymia take that a step further. They are often invisible. There are few specialists, few support networks, and incredibly limited public awareness for congenital athymia. This significant lack of support and resources has demanded that parents like me become their child's fiercest advocates as well as their parents. All of us in the congenital athymia community are rare disease pioneers. The Luca Rising Foundation was founded to change all of that. Our mission is to build a comprehensive support network for families affected by congenital athymia — connecting them, advocating for them, and fundraising to improve care and research. Together we are all stronger, braver, and more resilient. Together we can all Rise like Luca.
Awareness saves lives. The earlier congenital athymia is caught, the better the outcomes. Newborn screenings save lives. The more funding that flows toward research, the more options families will eventually have.
Here's how you can help:
* Learn and share. Tell someone about congenital athymia today. Share this post. The ripple effects of awareness are real.
* Support the Luca Rising Foundation. Visit www.lucarisingfoundation.com to learn about our mission, follow Luca's journey, and support our fundraising efforts.
* Advocate for newborn screening. Universal SCID screening — which catches congenital athymia — is one of the most important tools we have. Support policies that protect and expand it. Speak out against policies that aim to remove it.
* Donate thymus tissue. If your child is undergoing cardiac surgery, speak with your medical team about the possibility of thymus tissue donation. That discarded tissue can save another child's life whether through transplantation, research, or TREG therapy.
Rare diseases are called rare for a reason. But for the families like ours living with them, nothing about the experience feels small or rare. The fear, the love, the exhaustion, the hope — it's as enormous as any experience can be. Our mission is centered around advocacy and comes from lived experience, we honor every family navigating congenital athymia and every other rare condition that medicine has yet to fully solve. We stand with Luca and with every child who is fighting to build an immune system, one T cell at a time.
Welcome to the Luca Rising Foundation.
Together, we rise.
