According to a story from abc13.com, Makenna Brown, a four-year-old girl from Texas, has been plagued by relentless itching thanks to her Alagille syndrome, a rare genetic disorder. Her distressed parents recall in horror how their daughter would scratch herself to the point of drawing blood. Unfortunately, no amount of scratching can relieve that itching caused by this disease. However, Makenna and parents Jason and Jessica have found new hope in a clinical trial that is aiming to find relief from this aggravating symptom.
About Alagille Syndrome
Alagille syndrome is a rare genetic disorder that has impacts on a variety of organs, including the kidneys, liver, and heart. Signs and symptoms become noticeable early in life. It can vary widely in severity, and may hardly produce symptoms in some cases. The syndrome is caused by mutations of the JAG1 or NOTCH2 genes. Symptoms include jaundice, cholesterol deposits on the skin, itching, pale stools, numerous heart defects, butterfly shaped bones on the spine, eye defects, and narrowed pulmonary arteries. Treatment includes several medications to improve bile flow and surgery to repair heart defects. In the most severe cases, a liver transplant may be necessary. Prompt treatment is paramount upon diagnosis of Alagille syndrome. In some cases, if left untreated, the complications of the syndrome can be fatal. There is serious need for more treatment options for this disease. To learn more about Alagille syndrome, click here.
The clinical trial took place at the Texas Children’s Hospital. So far it looks like the trial is going to be a success. Currently Makenna has seen much of her itching disappear thanks to the drug that she was given in the study.
With the positive results for the young patient, Makenna’s parents and the doctor’s running the trial are hoping that the drug in question will be useful for other kids with Alagille syndrome or other diseases that affect that liver and cause severe itching.
“For people who have children with liver disease in the future who may need it, it is literally a life saver.” – Jessica Brown, Makenna’s mother