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…
Clinical genome sequencing, or cGS, testing to detect a rare genetic disease such as Alagille syndrome, resulted in a positive diagnosis of varying disorders…
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,…
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…
Nearly all children with Alagille syndrome who received Mirum Pharmaceuticals’ Livmarli (maralixibat) for seven years as part of clinical studies continued to experience…
When our son Finley received his diagnosis of Alagille syndrome, our family began to address the steep learning curve that is understanding a rare…
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…
About one year of treatment with Livmarli (maralixibat) allows about a third of patients with Alagille syndrome to stop at least one other…
Learning about Alagille syndrome has been a challenging task. My wife and I have done the research, read the studies, and combed through many…
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…
A toddler boy with cirrhosis, or permanent liver scarring, due to Alagille syndrome developed a hepatoblastoma, a type of liver cancer that typically occurs…