Worrying about water play for our son with Alagille syndrome
Our kids love the water. When our lovely Pacific Northwest weather finally turns warm enough, they both beg to pull the inflatable pool from storage.
Alagille syndrome
A parent’s dilemma: How to get a child with Alagille to eat enough
Feeding small children is a daunting process for parents. Will they eat what’s been prepared? How much of a mess will they make? Are they…
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…
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…
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