Finding our way to advocacy, and through it, therapy
As someone who tends to be introverted, I saw advocacy as daunting. I had a narrow understanding of how it could look. But after my…
Alagille syndrome
Medical supply ordering can be stressful for an Alagille parent
There are many hurdles that come with rare genetic conditions. One obstacle my family has struggled with recently is that the supplies we need are…
Researchers develop new way to recognize Alagille-causing mutations
A team of researchers has developed a new screening system to identify previously unrecognized mutations as the likely cause of Alagille syndrome. In a…
Why I sometimes feel fear of the future for my youngest son
Parenting brings many challenges, but there’s one that’s always front and center for me: keeping my sons safe and secure. As they’re 6 and 3…
EMA committee recommends Iqirvo approval for PBC in Europe
A European Medicines Agency (EMA) committee has recommended the approval of Ipsen‘s Iqirvo (elafibranor) as a second-line therapy for adults with primary biliary…
The latest obstacles we faced in getting my son’s blood drawn
After my wife, Dani, and I entered the world of Alagille syndrome and became advocates, we aimed to provide a view of everyday life…
Dupilumab works as itching treatment in Alagille case: Report
The use of dupilumab, an approved anti-inflammatory antibody-based treatment, worked to ease itching, known medically as pruritus, in a young woman with Alagille syndrome…
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.
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…
