Patient of the Month – Francis S.
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Written by his mom, Liviera
Francis S. is our little miracle baby.
TW: Pregnancy Loss
Before Francis was born, our family had already experienced the deepest heartbreak. We lost our first son, John, because of hypophosphatasia, also known as HPP. At that time, we did not know about the diagnosis. We did not know that both parents were carriers, and we did not know the risk that could come with each pregnancy.
Because of John, we were able to do genetic testing and learned that both of us are carriers for HPP. Losing John was the most painful chapter in our lives, but his life gave us knowledge, awareness, and a chance to fight for his little brother. John’s life will always have meaning in our family. Because of him, we were more prepared for Francis, and because of him, we knew that we needed to search, ask questions, and hold on to hope.
During my pregnancy with Francis, we were monitored very closely. After the anatomy scan, we started to suspect HPP again because Francis’s long bones were measuring about three weeks behind. Even though it was very scary, this time it was not a complete medical mystery. We knew we were carriers, but because HPP is so rare and there is still limited information and research, we still did not know what Francis’s outcome would be. After losing John, our biggest question was whether Francis would survive.
During that uncertain time, we reached out to the Soft Bones community, and we are so grateful we did. Deborah Fowler and the entire Soft Bones community were incredibly supportive. They connected us with other parents whose babies had similar conditions, and that meant so much to us. We felt less alone. We were still scared, but we had people who understood. Soft Bones gave us connection, education, comfort, and hope during one of the most uncertain times in our lives. Soft Bones has played such a big role in Francis’s journey, and we will always be grateful for the way they supported our family.
We were then connected with Dr. Deborah Krakow, a maternal-fetal medicine specialist and geneticist. She is an amazing doctor. During the ultrasound, she explained that Francis’s findings were very consistent with HPP. She helped us understand what we were seeing and made a plan for Francis to be delivered at UCLA, with the Neonatal Intensive Care Unit (NICU) team ready and a ventilator prepared right away if he needed it. We still did not know exactly what would happen, but having a plan gave us comfort and hope.
When Francis was born, he received his first injection just two hours after birth. He spent three months in the NICU, including two months on a ventilator. Those months were full of fear, prayers, tears, and tiny victories. He went through so much at such a young age. He needed many medications, including morphine and fentanyl, and he had to fight through challenges that no baby should have to face. But Francis kept fighting.
We are also deeply grateful for the pharmaceutical company and everyone involved in making Francis’s medication possible. His treatment has been such an important part of his journey, and we do not take it for granted. Every injection, every shipment, every approval, and every person behind the scenes has helped give Francis the chance to grow, breathe, move, and thrive. To us, this treatment is not just medicine; it is hope.
We are so proud of Francis because he is thriving. He is strong, brave, and full of joy. Even after everything he has gone through, he is still such a happy baby. Nothing can stop him from smiling and bringing light to everyone around him. Francis is always happy, always trying, and always fighting in his own beautiful way. He teaches us every day that strength can come in the smallest body, and that miracles can happen one day at a time.
Francis is also growing into such a strong little boy with his own sweet personality. He loves buses so much. Every time we go for a walk and he sees one, he gets so excited and says, “Bus!” It is one of the little things that brings us so much joy. He loves to play, go for walks, and sit on his little blue car. Watching him enjoy these simple moments reminds us that Francis is not only a child with HPP—he is a little boy full of life, curiosity, joy, and determination. Another important part of Francis’s journey has been feeding. Since the NICU, Francis needed a nasogastric (NG) tube because feeding by mouth was not easy for him. After we brought him home, he still needed tube feeding support, and later he had a PEG/G-tube placed so he could receive the nutrition he needed safely and more comfortably.
At first, seeing the feeding tube was emotional for us as parents. It was another reminder that Francis’s journey was different from what we had imagined. But over time, we learned that his tube is not something that limits him. His PEG/G-tube helps him grow, gain strength, and continue to thrive. He can still enjoy life, still go swimming, still play, and still learn how to eat by mouth at his own pace. His feeding tube is part of his journey, but it does not define him.
Living with HPP comes with many challenges. Francis has injections three days a week. He has many appointments with specialists, physical therapy, occupational therapy, feeding therapy, and ongoing follow-ups. We also have a nurse who helps care for Francis, and she has become an important part of his journey. Our schedule can feel overwhelming at times, but we are deeply grateful for every person who has been part of Francis’s life.
From his doctors, nurses, therapists, specialists, feeding team, pharmaceutical company, Soft Bones, and everyone who has cared for him along the way, we have been surrounded by so much kindness. We cannot name every single person, but each of them has touched Francis’s life in a meaningful way. Every person who participates in his care has helped him grow, heal, and become stronger. We are truly grateful that Francis has been loved and cared for by such amazing people.
Francis continues to work hard every day. Standing is still difficult for him, but he keeps trying again and again. He may struggle, but he does not give up. Every attempt, every movement, every therapy session, and every little progress means so much to us. He reminds us that strength is not always loud. Sometimes strength looks like a baby trying one more time. Francis also has a big sister, Gianna, who loves him so deeply. When I was still pregnant with Francis, Gianna told us, “Francis will be fine.” Her faith and love for him were so pure and beautiful. She believed in him before she even met him. Now, she is one of his biggest cheerleaders. She celebrates his little milestones, comforts him, plays with him, and loves him with all her heart. Their bond is one of the most beautiful gifts in our family.
Recently, Francis was also diagnosed with late craniosynostosis, and he will be evaluated further with an MRI and CT scan. This has brought another layer of concern, but we continue to take each step with hope. We celebrate every little milestone, every smile, every movement, every improvement, and every moment we get with him.
The most important thing we want the world to know about HPP is that families affected by rare diseases need support, awareness, and hope. A diagnosis like HPP can be terrifying, but families should not have to walk through it alone. Community matters. Doctors who listen matter. Research matters. Access to treatment matters. Every baby’s story matters. To other families of people with rare diseases, we want to say: you are not alone. We know how heavy the journey can feel. We know the fear of waiting for results, the tears after appointments, the questions that do not always have clear answers, and the pain of watching your child go through things you wish you could take away. We know how exhausting it can be to live between hope and fear.
But we also want you to know that there is still so much beauty in this journey. There is beauty in every small milestone, every smile, every little movement, every ounce gained, every therapy progress, and every day your child keeps fighting. Sometimes the miracle is not one big moment. Sometimes the miracle is your child trying again, smiling again, breathing, growing, learning, and showing you strength you never knew was possible.
Please do not give up. Ask questions. Find doctors who listen. Find your community. Let people help you. Celebrate the small things, because in the rare disease journey, the small things are never small. They are victories. They are hope. They are reminders that your child’s life has purpose, meaning, and so much light.
Francis has taught us that even when the road is hard, love can be stronger than fear. He has taught us that every child’s story matters. He has taught us that a diagnosis may change the journey, but it does not take away the joy, the love, or the miracle of who they are.
Francis is our miracle baby. He is not defined by HPP, by his feeding tube, by his appointments, or by the challenges he faces. He is Francis—happy, strong, loved, curious, and always fighting.
Every day with him is a blessing. Every milestone is a celebration. Every moment is a reminder that hope is real.
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