For as long as she can remember, eighth-grader Ella Bork has held a keen knowledge of rare diseases, especially Alagille syndrome. Her mother, Cher, is actually the Executive Director of the Alagille Syndrome Alliance, a Patient Worthy partner. Driven by her desire to make a positive impact on the world, Ella is following in her mother’s footsteps by raising funds and awareness for this rare genetic disorder.
Reporting from Rose Johnson of Action News 5 shares how Ella has been participating in the annual “Fight for a Better Life” fundraising campaign for four years running. She hosts a yearly bake sale, contributing funds raised to the cause. Her treats are varied, ranging in flavors from ginger and caramel to pumpkin and cinnamon (yum!). Ella even created a special cookbook called “Treats for a Cause.” Her endeavors have helped her to raise more than $5K to support initiatives from the Alagille Syndrome Alliance.
Right now, there are no cures for Alagille syndrome. Both Bylvay and LIVMARLI were FDA-approved to treat chronic pruritus (extremely itchy skin) in people with Alagille syndrome. Other treatments are symptomatic and supportive, including supplemental vitamin treatments, ursodeoxycholic acid, antihistamines, and surgery. Ella explains that some people have to undergo heart or liver transplants. Until a cure is found, she says, she will continue raising money and supporting the community in whatever ways she can.
If you’d like to join the fight to find a cure, and support families affected, you may donate to the Alagille Syndrome Alliance here.
About Alagille Syndrome
As described briefly above, Alagille syndrome is a rare genetic disorder that can affect multiple organ systems such as the heart, liver, skeleton, kidneys, and eyes. The condition results from JAG1 or NOTCH2 gene mutations, typically inherited in an autosomal dominant pattern. However, some cases of Alagille syndrome result from spontaneous mutations. Liver disease is one of the defining features of this disorder. Heart abnormalities are also common.
Typically, symptoms appear within the first few months of life. Symptoms may differ vastly from person-to-person, even within the same family. Potential manifestations of this disorder can include:
- Severe skin itchiness
- Failure to thrive
- Jaundice (yellowing of the skin, eyes, and mucous membranes)
- Blocked bile flow from the liver (cholestasis)
- Reduced number of bile ducts
- Poor weight gain
- Heart murmurs
- Pale, loose stools
- Enlarged spleen and liver
- Malabsorption and vitamin deficiencies
- Vertebral abnormalities
- Impaired blood flow from the heart to the lungs
- Pulmonic stenosis
- Distinctive facial features such as deeply-set and widely spaced eyes, a broad forehead, and a pointed chin