EU initiative aims to improve early detection of rare genetic diseases
An initiative in the European Union (EU) aims to speed up the diagnosis of rare genetic disorders such as Alagille syndrome in newborns using…
Alagille syndrome
Clinical genome sequencing aids in rare genetic disease diagnosis: Study
Clinical genome sequencing, or cGS, testing to detect a rare genetic disease such as Alagille syndrome, resulted in a positive diagnosis of varying disorders…
The Alagille syndrome symptoms in my son’s face don’t define him
When we had our two boys, my wife, Dani, and I would debate which of us they’d look like the most. It was a fun,…
Caregivers, don’t skimp on taking care of yourself
Parenting is hard. Add in a rare genetic disease, and the stressors change. Taking time for yourself as a caregiver is vitally important to help…
Livmarli sustains benefit for Alagille patients over 7 years: Trial data
Nearly all children with Alagille syndrome who received Mirum Pharmaceuticals’ Livmarli (maralixibat) for seven years as part of clinical studies continued to experience…
Monitoring my son’s tooth discoloration, an effect of Alagille
When our son Finley received his diagnosis of Alagille syndrome, our family began to address the steep learning curve that is understanding a rare…
My younger son’s third birthday was normal, but definitely memorable
As we advocate for our son Finley, my wife, Dani, and I aim to share our family’s daily life for other parents learning about their…
Livmarli helps Alagille patients stop other anti-itch meds in real world
About one year of treatment with Livmarli (maralixibat) allows about a third of patients with Alagille syndrome to stop at least one other…
How we approached teaching our son about Alagille syndrome
Learning about Alagille syndrome has been a challenging task. My wife and I have done the research, read the studies, and combed through many…
What we wished we’d known after a diagnosis of Alagille syndrome
We received the diagnosis that our son, Finley, had Alagille syndrome when he was 4 months old. All we’d known during his first few…
Recent Posts
- Study: New ABCB4 mutations tied to different ages of PFIC3 onset
- Our son with Alagille syndrome is finding it hard to fall asleep
- New names given nonalcoholic fatty liver diseases fit children: Study
- Vascular health checks, kidney tests urged for Alagille patients: Review
- Linerixibat eases ‘relentless’ PBC itching in Phase 3 trial, meeting goal