Luca Rising Foundation

Pictures are all that is needed to say how wonderful of a weekend it was supporting friends and seeing absolutely beautiful cars!!
Eclipse Window Tinting, Cincinnati Ohio
Richard Puthoff

Day 1654.

Nearly five years ago, I started blogging as a way to document my medically complex pregnancy. What began as a personal journal soon evolved into a record of a journey I never could have imagined. After Luca was born, my writing shifted from pregnancy updates to the unexpected realities of caring for a medically fragile premature infant. A journey I am privileged to still be sharing now, many years later.

By the time Luca was less than two weeks old, our world had changed completely. We were living in strict medical isolation and had just received the devastating diagnosis of congenital athymia. In that moment, my blog became more than a place to share updates—it became a testament to resilience, perseverance, and the extraordinary lengths we would go to in order to give Luca a chance to survive. One of the greatest challenges we faced, beginning on just the fifth day of Luca's life, was medical isolation. It would shape nearly every aspect of our lives for years to come.

Medical isolation for children with severe immune deficiencies is a complex, around-the-clock infection prevention strategy designed to reduce exposure to viruses, bacteria, fungi, and other pathogens that a healthy immune system would normally control. Families become responsible for implementing many of the same precautions used in healthcare settings. Every visitor is a calculated risk that must be screened for illness and recent exposures. Hand hygiene becomes non-negotiable, high-touch surfaces are disinfected frequently, and crowded indoor spaces, schools, daycare centers, playgrounds, restaurants, and public events are avoided entirely. Parents carefully monitor community infection rates, vaccination status of close contacts, and potential exposures before making decisions that most families rarely think twice about.

The practical realities of infection control extend into every aspect of daily life. Groceries may be delivered or disinfected before entering the home. Medical appointments require extensive planning to minimize exposure risks. Siblings may miss social activities or follow additional precautions to protect their medically vulnerable brother or sister. Families learn to recognize the earliest signs of infection, monitor oxygen levels and vital signs, maintain emergency plans, and remain in constant communication with medical teams. What appears from the outside as isolation is actually a highly coordinated effort to prevent infections that could lead to hospitalization, intensive care, or life-threatening complications.

For many families, these precautions continue for years. For our family it was several years, for our bubble buddy, Juliana, featured in the article below it’s going on five years. The psychological burden is significant, as parents live in a state of continuous vigilance, balancing the developmental and emotional needs of their child against legitimate medical risks. They watch milestones, friendships, and ordinary childhood experiences unfold from a distance while making decisions based on survival rather than convenience. The world passes us by from behind the glass. The goal is not simply to avoid illness—it is to preserve health long enough for treatments, therapies, and the eventual immune reconstitution post transplant to provide a safer future. Behind every precaution is a family making countless evidence-based decisions each day in an effort to give their child the best chance to survive. Isolation may feel like a burden in the moment, but for families like mine and Juliana’s it’s a promise for a future.

As Texas Vaccination Rates Fall, Vulnerable Children Face Growing Risk - Public Health Watch From a West Texas measles outbreak to rising vaccine exemptions statewide, families of immunocompromised children depend on herd immunity, which is slowly eroding.

Day 1653.

Today, Luca checked off three of life's most important boxes:

✅ Hung out with friends.
✅ Looked at gorgeous supercars.
✅ Ate Skyline Chili.

Honestly, that's a pretty solid day by any standards, let alone Cincinnati standards.

We spent time at the Eclipse Window Tinting, Cincinnati Ohio show surrounded by enough horsepower to launch a small country into orbit. Luca inspected every car with the seriousness of someone preparing to make a six-figure purchasing decision. The fact that he arrived in a booster seat instead of a Bugatti seemed irrelevant to him. I love that he has no concept of how wild his life has been and continues to be. His everyday experiences are so often a dream come true.

The best part, though, wasn't the cars. It was the friendships. Watching Luca laugh, play, and make memories with people who show up for him never gets old. The cars were shiny and bright, but the company was the real highlight. Because every great Cincinnati adventure must end with questionable dietary decisions, we wrapped things up with Skyline Chili. I am so glad that Luca enjoys it as much as I do, gluten allergy and dairy intolerance be damned, Skyline is always worth it.

Supercars, friends, and Skyline. Not a bad way to spend a day for a little boy who continues to prove that the best adventures aren't measured in miles per hour, they're measured in smiles. The good old days aren't hiding in the past, they're unfolding right in front of us. Knowing the importance of the days while they're happening feels like knowing an incredible secret. Life isn’t about making memories, it’s about savoring the moments while you can and that’s exactly what we did today.

Day 1652.

Today was one of those simple days that somehow felt a little magical. We went to the park with Debby and spent the afternoon watching Luca run, climb, explore, and simply be a kid. For most families, a day at the park might not seem like a big deal, but for us it’s something we once only dreamed about.

There were years when congenital athymia stole so much from Luca and from me as a mother. The thought of crowded places, playgrounds, and carefree childhood adventures felt terrifying and out of reach. Those things would all lead to infections and infections too frequently are the end of life for a kid with athymia. Today, watching him laugh, play, and enjoy every moment was a reminder of just how far he has come.

The best part was sharing it with Debby and watching the joy on Luca’s face. We laughed, soaked up the sunshine, and watched him make memories that every child deserves to have. In so many ways, we’re making up for the things congenital athymia took — one playground, one adventure, and one ordinary but extraordinary day at a time.

Life can get busy, and sometimes the most meaningful memories come from the simplest experiences. A trip to the park, a good friend, fresh air, and the joy of watching Luca just be a kid turned an ordinary day into a really good one. Days like today may not seem extraordinary, but they’re the moments we’ll remember long after they’re gone. These are the moments that get me through the hard days, I’m forever thankful for them.

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.

Day 1650.

Today was a day for playing cars, monster trucks, watching Bluey, and savoring the moments when Luca continues to find his voice. We played hard, skipped a nap, and finally he has crashed in my lap on the couch. These moments are so special, I live for these cuddles and can’t imagine a better way to wind down the day. As I look down at his little sleepy self I can’t help but hope that he knows just how loved he is.

****

Things Luca said to me today:

“Tickle, tickle.” It was 4 am and he was hovering over me with his tickle hands ready to go. Terrifying.

“Mama, mean.” When I wouldn’t let him eat sprinkles for lunch.

“Fly to space.” Telling me where he would like me to go when I refused to take him to target. Good one, buddy.

“Hungry for mac and cheese.” While actively refusing to eat said mac and cheese and eyeing fruit loops.

“Luca is not tired.” He’s really embracing speaking in the third person, especially at 10 pm when he’s definitely tired.

“Love you.” I waited four and a half years to hear this. He’s been signing it for a while but hearing it tonight was a core memory in the making.