According to a story from philly.com, four year old Ethan Lieber of the Roxborough neighborhood in Philadelphia is one of just 500 people in the US with Hunter syndrome. This genetic disease will eventually claim Ethan’s life by the time he is a teenager unless he is able to receive treatment to halt its progress or a cure. His parents realized that something was wrong when he began having trouble learning to speak.
About Hunter Syndrome
Hunter syndrome, which is also known as mucopolysaccharidosis II (MPS II), is a type of lysosomal storage disease. The disorder is caused by a genetic mutation on the IDS gene, which is located on the x chromosome. This means that males are more likely to be affected than females. The mutation results in a deficiency of the enzyme I2S. Without this enzyme, dermatan sulfate and heparan sulfate begin to accumulate in the body. The severity of Hunter syndrome can vary greatly; in severe cases, patients rarely survive beyond their early teens, but some people with the syndrome have only mild symptoms and have lifespans that are almost normal. Symptoms include hernias, enlargement of the liver and spleen, joint stiffness, loss of mobility, intellectual disability, behavioral abnormalities, skin lesions, vision loss, hearing loss, and distinct facial features. To learn more about Hunter syndrome, click here.
Ethan was around 18 months when it was clear that he could not understand his parents and could not form words himself. He as found help attending the Clarke School, which is for deaf children. This has allowed him more ability to communicate nonverbally. Still his parents, Steve and Emily, know that it is only a matter of time before their ability to interact and communicate with their son begins to decline further as his Hunter syndrome advances. Ethan has been getting enzyme replacement therapy, which had helped slow his symptoms, but it cannot prevent his neurological symptoms from worsening.
Ethan’s Best Chance
The Liebers stake their hope in an up-and-coming clinical trial for a gene therapy that could potentially halt the progression of Hunter syndrome, which would be a life-saver for Ethan. Patient families are hard at work raising the $750,000 needed to fund the trial. While it is probably Ethan’s best chance, there is no guarantee that one of the nine kids selected to participate will be him.
To help donate to the clinical trial, click here.
To check out the website, click here.