Real Families. Real Diagnoses. Real Peace of Mind.
Explore how early genetic screening can save lives.
X-Linked Agammaglobulinemia (XLA) — Preventing Infections Before They Start
Note: Real cases, names and ages have been changed for privacy.
The Family
Sarah and Daniel were first-time parents to baby Noah. He seemed healthy at birth, but by four months old, he had already had two serious infections requiring hospitalization. They asked their pediatrician about genetic screening through Fore Genomics and the pediatrician agreed it was a good idea.
The Genetic Finding
Noah’s screening identified a mutation in the BTK gene, associated with X-linked agammaglobulinemia (XLA)—a rare immune disorder where the body can't produce antibodies. Children with XLA are highly vulnerable to infections, especially in their early years.
The Impact
Noah was referred to a pediatric immunologist right away.
He began monthly immunoglobulin infusions to boost his immune system.
His family was educated on how to minimize exposure to infections.
His care team delayed and modified his vaccine schedule, particularly the MMR vaccine, which contains live virus components and is typically given at 12 months.This vaccine can pose serious risks for children with XLA. Because his condition was known, he was protected from this potential risk.
For the first time since Noah’s birth, Sarah and Daniel felt like they were finally one step ahead of his health challenges.
Today, Noah is a thriving 4-year-old with far fewer infections, living a full life thanks to proactive care from a timely genetic diagnosis.
Why It Matters
Without screening, Noah might have faced years of unexplained infections and even severe complications from routine childhood vaccinations. With Fore Genomics’ test, his parents were empowered to act early and safely.
Final Takeaway
Genetic screening is not about fear — it’s about preparation. These case studies show how insights from DNA can:
Prevent emergencies
Enable early treatment
Guide lifelong health decisions
For children like Noah, early answers can be the difference between recurring hospital stays and a healthy childhood