Johnathan was born in 2006 and looked like a perfect, beautiful, healthy baby boy. But within days, our world turned upside down. He became septic, severely jaundiced, and his tiny body began shutting down. His liver and spleen became dangerously enlarged, and doctors told us he was in complete liver failure. As new parents, we stood helpless beside his hospital bed watching him fight for his life. He underwent four platelet transfusions and countless procedures during his time in the PICU. Every moment felt terrifying. Miraculously, Johnathan became strong enough to come home, but we left the hospital with no answers. No one could tell us why our newborn son had almost died.

Over the next several years, his liver and spleen continued to be enlarged. Specialists were confused. Test after test came back without answers. Yet somehow, through it all, Johnathan kept smiling. He played, laughed, and loved life like any other little boy while we desperately searched for what was happening to him.

After starting a new career at Dominican Hospital and changing insurance, we finally found a doctor who refused to give up on Johnathan. Dr. Block will always hold a special place in our hearts. For years we had searched for answers while watching Johnathan’s liver and spleen continue to be enlarged, constantly wondering what was happening to our little boy. So many tests, appointments, and unanswered questions left us emotionally exhausted, but Dr. Block listened. He cared. And most importantly, he kept fighting for answers when so many others were stumped. He sent us to Stanford where doctors performed even more testing, including a liver biopsy. The doctor told us there was one last thing he wanted to test Johnathan for — Niemann-Pick Disease Type C. I still remember him telling me, “Don’t look it up online. I truly don’t think Johnathan has it.” But of course, the second I got home, I looked.

I sat there reading story after story about children regressing… losing their ability to walk, talk, and eat… and eventually dying from this horrible disease. I remember feeling physically sick. My heart was pounding and I could barely breathe.  I told my family, “Not Johnathan. There’s no way. He can’t have this.” We were terrified, but also hopeful. After years of uncertainty, countless appointments, tests, and procedures, we prayed we were finally getting closer to understanding what was wrong with our son.

Then we finally got our answer. Unfortunately, it was the answer no parent could ever prepare for.

I remember getting the phone call after finishing a long night shift at the hospital. I will never forget her voice. It was cracking. Sad. Heavy with emotion before she even said the words. “Johnathan has Niemann-Pick Type C.” At that moment, it felt like the world stopped. I remember screaming. Crying. Completely falling apart.

All I could think about were the stories I had read online. The children who lost everything. The families who had to say goodbye far too soon. Suddenly, that nightmare was now our reality. Doctors told us our son would most likely not live to see his teenage years. How do you hear that about your child and keep breathing?  Our family was devastated. Our friends were devastated. We went home carrying a diagnosis we could barely pronounce, knowing there was no cure.

Within two weeks, we traveled across the country to the NIH searching for hope. At the time, our only option was an off-label medication. We said yes immediately because doing nothing was not an option. For the next three years we hoped and prayed for a miracle, but nothing came. Time was against us.

Then came the opportunity to enroll Johnathan in an investigational clinical trial. The treatment had risks. There were no guarantees. But the alternative was losing our son. Johnathan was only 7 years old when he started the trial on March 28, 2014, becoming the youngest patient enrolled at the time. Not only was he one of the youngest children in the study, but he was also one of the first patients to receive the highest dose ever given of the medication. It was terrifying and hopeful all at the same time. As parents, Keith and I were faced with an impossible decision. There were unknown risks, unknown side effects, and no guarantees. We had to decide if we were going to let our child become a guinea pig. But there was also hope — hope that maybe this medication could slow down the disease that was stealing our little boy piece by piece.

While other children worried about school and cartoons, our little boy was undergoing spinal taps, MRIs, hearing tests, blood draws, anesthesia, skin biopsies, swallowing studies, IVs, and endless hospital visits. As parents, it was the hardest decision we had ever made. We were terrified. But we also knew this was our chance to fight for his life.

When the trial started, I had just given birth to my son, James.Suddenly, our lives became complete chaos. I was now preparing to travel across the United States with a newborn baby and a 7-year-old little boy receiving an experimental drug that no one could promise would work. Every trip carried fear and hope. I remember looking at all of my children and wondering how our lives had changed so quickly.  One minute I was soaking in those precious newborn moments with James, and the next I was sitting in hospitals, signing consent forms, watching Johnathan undergo spinal taps and procedures no child should ever have to endure.

After two years of traveling back and forth across the country, we were finally able to transfer treatment closer to home — first to Los Angeles and later to San Francisco. Having treatment closer to home lifted such a huge burden off our family and allowed us to breathe a little easier while continuing this fight for Johnathan’s life. Through it all were Anastasia, Kyleigh, and Haylee — the most incredible young ladies.

Anastasia traveled across the country with me to help care for James so I could focus on Johnathan during treatments. Once we started treatment in Los Angeles and Anastasia went off to college, Kyleigh stepped up. At the time, she was only 11 years old. She flew with us and helped keep the boys occupied whenever I had to focus on one of them during appointments and procedures. Then Haylee traveled with us all over the country and even to Canada as we continued learning more about NPC and fighting for a cure. Along the way, we were blessed to meet so many incredible families who became part of our lives forever. I truly could not have made it through those years without them.Thank God for Keith and his incredible job that stood by us through all of it. Without that support, I truly do not know how we would have survived those years. As hard as it was, we would have traveled anywhere in the world for even the smallest chance to save Johnathan’s life.

At the time Johnathan started treatment, NPC had already begun progressing. His liver and spleen continued enlarging, but by then he was also struggling with learning issues, swallowing problems, gait instability, and balance difficulties. We were beginning to watch the disease slowly steal pieces of our little boy exactly as doctors warned it would. Once starting the medication, something incredible happened.

Within a short time, many of those symptoms stabilized and some even disappeared. His swallowing improved. His balance improved. He regained abilities we feared were slipping away forever. For the first time since his diagnosis, we felt hope. Johnathan remained stable for many years with some regression in his abilities. While he still experienced progression, it happened far slower than we could have ever dreamed possible. We truly believe the medication gave us more time with our son.

Most children with NPC do not live into their teenage years or retain the level of independence and abilities Johnathan has had. Yet somehow, Johnathan exceeded every expectation doctors gave us. He celebrated birthdays we once feared he would never reach. He got to experience life as a teenager — making memories, laughing with friends, and even crashing his go-cart like a typical teenage boy. What made it even more incredible was Johnathan’s strength through it all.

Treatment became part of his life, but it never became something he feared. Quite the opposite. Our family and his medical team worked hard to make every treatment day feel safe, fun, and full of love. Johnathan never wanted to skip treatment. He learned to face spinal taps awake with a bravery most adults could never imagine.

For years, he handled treatment after treatment with courage and a smile. Thankfully, he experienced very few side effects from the medication. He does wear hearing aids due to neurological high-frequency hearing loss, which may have been caused by either the medication or NPC itself. But honestly, like many teenagers, he doesn’t always want to wear them — and most days he functions just fine without them. Considering the many years he has been on this medication, the hearing loss has been minimal compared to what we could have lost. The alternative was unbearable

Unfortunately, treatments and research have not come fast enough for many families in the Niemann-Pick community. We have watched children we love lose their battles. We have watched parents bury their babies. Those losses never leave you. The NPC community became our family through unimaginable heartbreak, and together we continue fighting for every child still waiting for a cure.

Then our worst fears became reality when treatment was stopped. UCSF decided to stop. We were crushed.  Within months, Johnathan’s swallowing issues returned. His walking regressed significantly, and he now needed aggressive braces just to help him walk safely. His learning disabilities worsened, and his speech began suffering, especially with stuttering. For the first time in years, we watched NPC begin progressing aggressively. The worst part was Johnathan understood what was happening.

He became afraid.

As parents, there are no words for the helplessness of watching your child decline while knowing the one thing helping him had been taken away. We truly felt the possible risks and side effects of the medication were worth it compared to losing him piece by piece.    After seven devastating months off treatment, we were blessed with the news we had prayed endlessly for: Johnathan was allowed to restart the medication because of Dr. Kravis and Gailkoujaian  fought for us to fly to Chicago and get the treatment there. After about 3 months of going to Chicago, Hope For Marian helped us find a new sight in LA.  

By that point, he had declined significantly. While he did not regain every ability he lost, after restarting treatment he stabilized again and regained most of them. That experience changed us forever. It reminded us just how critical this medication has been for Johnathan’s life, his abilities, his independence, and the precious time we have been given with him.

Today, Johnathan continues receiving Cyclodextrin injections into his spine twice a month. His grandpa and dad now take him to Los Angeles for treatments. The treatments are exhausting and overwhelming at times, but we are grateful beyond words for every extra moment we have with him. Every treatment means more time. Every fundraiser means more hope. Every prayer means someone remembers children like Johnathan matter.

Through it all, our small Gilroy community has wrapped us in love from the very beginning. Together, they have raised tens of thousands of dollars for research. Children have donated blood for studies. Friends, family, and strangers became part of this fight beside us. Their support has carried us through our darkest days.

When we first heard the words, “Your son has NPC,” we felt completely helpless. That heartbreak eventually became Johnathan’s Dreams. Adam Jones and Mark Wells came up with the idea to throw a party and fight for a cure, and that idea grew into Johnathan’s Dreams. What started as fear and devastation turned into hope, awareness, advocacy, research, and a community fighting together for a cure.And we will never stop fighting — for Johnathan, for the children we’ve lost, and for every family still waiting for a miracle.