New NOTCH2 gene mutations identified as likely Alagille cause
Researchers in Italy have identified 10 new mutations in the NOTCH2 gene, which has been linked to Alagille syndrome, in nine children and one…
Alagille syndrome
Fostering a healthy relationship with food for my son with Alagille
I’ve shared that nutrition plays a major role in the life of my 3-year-old son, Finley, who was born with Alagille syndrome. Because…
Creating understanding around my son’s Alagille syndrome
Here’s a question that’s been front and center in my mind while raising a child with Alagille syndrome: How do I prepare him to…
Liver disorder most common Alagille symptom in children
Cholestasis, where the flow of the digestive fluid bile from the liver to the intestines slows or stalls, is the most common feature across…
Struggling with anxiety about a change in routine for my son
Routines are foundational aspects of life with kids. Having a healthy, normal schedule helps the day flow. Kids will always throw a curveball or two,…
My son has Alagille syndrome, but it’s not his defining characteristic
When writing this column, I’ve understandably focused on the various medical complexities, situations, and emotions resulting from my son Finley’s Alagille syndrome diagnosis. I…
Atypical biliary tract abnormalities found in Alagille syndrome baby
A six-month-old baby with Alagille syndrome showed atypical biliary tract abnormalities, including a narrower main bile duct and a gallbladder with a corkscrew-like shape,…
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…
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…
Recent Posts
- How I’m learning to cope with challenges as a rare disease parent
- IBAT inhibitors have potential to boost life quality for patients
- Trial of HBV treatment candidate now enrolling final patient group
- Cour’s CNP-104 granted FDA orphan drug status for treating PBC
- Maralixibat Phase 3 trial for cholestasis-related itch is enrolling