About Us

Day 1197.
RARE DISEASE DAY.
Happy Rare Disease Day! Today is the day we celebrate the zebras; the people who thrive in a world not created for them. Luca has an ultra rare disease, Complete DiGeorge Syndrome - this includes a myriad of issues and complications the biggest being Congenital Athymia. His life has been full of unexpected rarities and challenging diagnoses, despite them though he fights on and has made unimaginable progress.
Rare Disease Day hits harder this year. We are living in a time of great uncertainty, continuous letdowns, and an unraveling of the current support systems. Life is not getting any easier for the rare disease community, and because of that we have to unite, celebrate our own, and fight for the future we all deserve. In our lives, everyday is Rare Disease Day - our fight for advocacy and change is never ending. Rare Disease Day is just the beginning for us, the momentum we are building now is going to be carried forward in the months to come leading up to Advocacy Day in April- a day I personally get to speak in front of congress on behalf of Luca and the other rare disease and immunocompromised people in America. Today and everyday, we stand, we share, we advocate, and we continue to build a stronger world for the rare zebra’s we all know and love. 

Below is just a small part of his story, but it gives an understanding of the earth shattering diagnosis for those looking to better understand our history.  While Luca is rare, he is also perfectly imperfect, he is made of strength, he is forged from a flame of light, and he is far more than the diagnosis life has given him. 

Having a child with athymia is your most wished for dream coming true, only to find that this perfect life you created isn’t sustainable. It doesn’t feel real when you get the news. You’ve just given birth to a perfect baby, you expect to hear “congratulations” not “it’s terminal”. The room is silent as every breath leaves your lungs, every dream you have leaves your brain, your heart shatters. Your thoughts race and words escape you. The world around you continues to spin, but your world has stopped. It takes days to feel anything beyond the debilitating pain. First you feel numb, and eventually - finally, you feel a glimmer of hope. That hope is what makes life bearable for families affected by Complete DiGeorge Syndrome. Eventually we recognize that there is hope. There is a solution. There is a chance. We just have to protect and care for these babies until they can have a transplant, this can and often does take years. The hope the families of cDS feel gives us courage, strength, stamina, and a willingness to work for a future. 

To us, Luca is the rarest and most unique baby in the world. To his doctors, he’s one of 15-20 babies born each year in the US with a rare and complex syndrome known as Complete DiGeorge Syndrome. As explained by RareDiseases.org: ‘This is a rare disorder in which children have no detectable thymus (athymia). The thymus is a gland located on top of the heart. The thymus produces specialized white blood cells called T cells that fight infections, especially viral infections. Children with complete DiGeorge syndrome are born without a thymus and are therefore profoundly deficient in T cells and extremely susceptible to infections. Without treatment, the disorder is usually fatal by two or three years of age.’ Luca is so terribly special, and thankfully well on his way to producing enough T cells to guarantee a future.
In terms of healthcare the transplants are still fairly new. I’m 1994 it was discovered by a Duke University Hospital physician that thymus transplants can produce t-cells and save lives. Until late 2021 the transplants were considered experimental, they received FDA approval one month before Luca was born. Luca was the 104th baby to receive a transplant in America. There are many waiting for their chance still, hoping for their saving grace. 

The transplant process is tedious, long, and expensive. The babies must first be diagnosed, then the real process begins. Documentation, testing, medical approval, and then financial approval for the transplant can take years to facilitate. With there only being two hospitals in the world that perform the transplants the waiting list is also years long. Once you make it through the bureaucratic portion and potentially even make it to a hospital that provides transplants the wait is not over. Thymus donation comes from living donors, healthy and rigorously tested babies that are under nine months old and undergoing a heart procedure of their own. These babies must have a portion of their healthy thymus removed for the surgeon to access the heart. The thymus is used for research, testing, discarded, or in the rare case used for a transplant. Once the thymus is harvested it’s sent to a lab for several weeks to prepare it for transplant. During the transplant process the surgeon creates furrows in the quadriceps muscle and places the slices of cultured thymus tissue individually into pockets in the muscle. The quadriceps serves as a good site because it is a relatively large, highly vascularized muscle. Life is not suddenly “back to normal” or “okay” post transplant. It takes up to 24 months for the body to create enough t-cells to leave isolation and be well. For some kids, a transplant alone isn’t even enough. The success rate is just over 70%. 

Many rare diseases do not have cures or ways to manage them. Thankfully, there is a viable and widely successful option for cDS babies - a life saving option that for many takes years to acquire. While waiting for the transplant and then for the T cells to develop after, the families of athymic children must live in isolation. The most basic cold can be catastrophic. Survival means life as you knew it must stop. Sacrifices are made daily all in hopes that you’ll soon get the call from Duke and soon be on your way to a better life. Luca is one of a kind, his disease is rare, and his unfolding story is a testament to hope. We made all of the necessary lifestyle changes, lived in the hospital, and done everything possible to keep Luca safe. Behind the scenes calls were made to Duke and the insurance company, and silent prayers were begging for a miracle. The work, dedication, love, and luck resulted in Luca getting a transplant at seven months old - years before we anticipated it, and years before many others who have waited. The bureaucracy that oversees the transplant process is broken and the price tag put on life for athymic babies is unfathomable - over 3 million dollars to give them a chance. It’s the most expensive transplant performed. Luca is one of the rare treatment exceptions, so many other rare children continue to live their lives of isolation waiting well past toddlerhood. Their families give up any semblance of normalcy and life continues with bated breath. Our lives much like the lives of all families affected by cDS are never going to be the same after all of this, and I assure you, we are not always okay. 

We wouldn’t change Luca for the world. His struggles have become our struggles and his strength helps to guide me towards my own perseverance. On the days I don’t think I can take another setback or trauma, I look at this baby and know I can, because he is. Each day is a challenge he faces and rises above. Luca is my hero. He’s everything a hero should be - he is brave, strong, and undeterred. He is a zebra living in a world made for horses. Above all the challenges, the fears, and the anguish, he rises.