Stories

It’s hard to pinpoint when Adam’s challenges first began. He was a fussy, colicky baby, but the first clear sign that something was wrong came at 5 months. What followed was a long journey of searching for answers.

After a year of uncertainty, shortly after we began working with Mayo Clinic, we finally received the diagnosis: XLP2. It was an answer, which brought even more uncertainty and worries. For Adam, the disease shows up mainly as moderate to severe GI issues, bringing pain, discomfort, and many sleepless nights during flare-ups.

Yet through all the symptoms, pokes, tests, and procedures, Adam has kept his spark. He’s silly, curious, excited about the world around him - especially anything with wheels - and brave enough to explore new things every day.

We’ve learned so much from Adam, how to be brave when he needs us and how to appreciate the simplest moments and each new day we have been given.

Adam (United States)

Charlie was perfectly healthy besides the occasional ear infection up until 18 months old, when he developed a fever that lasted 13 days. He was diagnosed with HLH triggered by CMV, and genetic testing confirmed it was caused by XLP2.

Because of his HLH flare, he moved forward with a stem cell transplant, which was initially a complete success with >98% donor engraftment.

Sadly, CMV reactivated and spiraled out of control, destroying his graft, spreading into his lungs, and causing another HLH flare. Charlie passed one month after his second birthday, on 10/22/25, just 99 days post-transplant.

He was the sweetest, silliest, most perfect little boy. He loved Bluey, pretzels, Itsy Bitsy Spider, and wagon rides. He will forever be missed.

Charlie (United States)

Noah was diagnosed with XLP2 in March 2025 at five years old, under the care of the Royal Manchester Children’s Hospital in the United Kingdom.

Noah is a beautiful, imaginative, and adventurous six-year-old boy. He loves dinosaurs, Lego, and Minecraft. As a family, we enjoy going on walks in forests and national parks around the UK and Ireland, and visiting beaches - especially the rocky ones - where Noah always says, “Maybe we’ll find dinosaur fossils this time!” He is a cheeky, kind, clever, and deeply thoughtful little boy.

Noah (United Kingdom)

Wyatt (United States)

Wyatt is 8 years old and was diagnosed with XLP2 in June 2025 after a series of high fevers led us to the emergency room. Since preschool, he would have sudden, unexplained fevers that were often dismissed as viruses. This summer, after his temperature spiked to 105°, we insisted on bloodwork, which showed extremely elevated levels and quickly put us in front of multiple specialists—ultimately leading to his diagnosis.

XLP2 affects him with recurring fevers and HLH-like episodes. Despite this, Wyatt is an energetic, active 8-year-old who loves baseball, basketball, and boxing, and is full of life. For now, his only treatment plan is steroids, which help bring the fevers down.

Emmett was only a month old when he got sick with an unknown respiratory virus that kept him in the hospital for 2 weeks. 3 days later he got a fever that lasted a month. During that month we were transferred to the Mayo Clinic for further testing. Emmett was the first baby not born at Mayo to receive rapid genome testing. That’s when his diagnosis came. We were told they would do a bone marrow transplant at 10 months old and until then he would have infusions 2 times a week. Because of the severity of his case a BMT was his only option. He cruised through it with ease and the 100 days after were some of the best of his life. But on day 296 he passed away at 18 months old after a 4 month long fight with graft vs host of the lungs.

Emmett did not have an easy life but you would never have known it by his personality. He was always so happy and joyful and he only knew love. He never was alone and could make any doctor or nurses day. He loves Finding Dory, Bluey, snapping our masks when we held him, stealing his dad’s glasses and watching his sister sing and dance.

He is our sunshine and we miss him everyday.

Emmett (United States)

Logan and Kellan are brothers who both live with XLP2. Kellan received his diagnosis in May 2024 at age 8 after being misdiagnosed for 7.5 years. A few months later, in September 2024, 13-year-old Logan was tested because of Kellan’s results and learned he also had XLP2. He remained unaffected until September 2025, when he experienced his first known mild flare.

Kellan is currently treated with MAS 825 and loves Fortnite, swimming, and spending time with friends. Logan is not receiving treatment at this time. He is the quarterback for his high school team and enjoys working out and playing video games.

Kellan and Logan (United States)

At 5 years old, Jordy suddenly began experiencing stomach pain, nausea, weight loss, and slowed growth. His pediatrician sent him to UPMC Children’s Hospital of Pittsburgh, where he was first diagnosed with Crohn’s disease. But more testing revealed something even rarer — XLP2.

With the right diagnosis, Jordy bravely faced medications, infusions, and a clinical trial, but nothing worked. His final option was a bone marrow transplant, which can be risky for XLP2 patients.

In July 2024, Jordy received his transplant from an umbilical cord donor and spent 60 days in the hospital. It worked and Jordy is 100% donor cells and is thriving.

Today, at age 10, Jordy is cured of XLP2 and excited to get back to flag football, Fortnite, and living the healthy, joyful life he’s meant to have.

Jordy (United States)

David (Spain)

We are the parents of David, 12 years old, a very funny boy who loves sports and animals.

Since he was a baby, David never slept well. He always seemed uncomfortable and would wake up often with an expression of pain on his little face. Although we took him to different pediatricians, it wasn’t until he was 6 years old that we finally received his diagnosis: primary immunodeficiency caused by a mutation in the XLP2 gene. It took us over a year to accept and come to terms with the idea that inside him there was a “time bomb” that could go off without warning and put his life at risk.

Since his diagnosis, we have fought against his symptoms. In David’s case, the disease has mainly affected his spleen, liver, lungs, and appendix, which has meant several surgeries and multiple treatments.

Our son has shown us what a true hero he is, facing so much pain, fear, anxiety, early mornings, and long days filled with appointments and tests.

As David wrote on a Christmas card he gave to his doctors, we share this wish: THE BEST GIFT IS A CURE (El Millor Regal És Curar).

In 2007, ten-week-old Andrew nearly died from liver failure and was soon diagnosed with the rare immune disorder HLH. Over the next several years, he underwent three bone marrow transplants. Further testing revealed that Andrew’s HLH was caused by XLP2, a rare immunodeficiency.

When doctors recommended testing his younger brother, Matthew, they discovered that although he appeared completely healthy, he also had XLP2 and faced the same life-threatening condition.To protect him before HLH could be triggered by an infection, Matthew underwent a bone marrow transplant while still outwardly well.

Just two weeks later, Andrew developed severe pulmonary complications and passed away in September 2009. Matthew’s journey proved even more difficult. Despite months of treatment, he also passed away in May 2010. In their honor, their parents created a foundation dedicated to supporting families affected by HLH and advancing research into XLP2.

Andrew and Matthew (United States)

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