Within 48 hours following her son Kylan’s birth, Emily Bussenschutt had already visited three separate hospitals searching for a diagnosis. 9Honey explains that Kylan was born with epidermolysis bullosa (EB) — though Emily didn’t know it at the time. What she did know was that her son was born with blisters under his fingernails, missing facial skin, and a fully degloved foot. 

However, upon reaching Sydney Children’s Hospital — and spending over three weeks there — Kylan was diagnosed with EB. At the hospital, Emily learned how to handle her son with care, to change his diapers, and to ensure that she was taking care of his extremely sensitive skin.

Now, Kylan is three years old (and potentially about to participate in a clinical trial), and Emily is more determined than ever to raise awareness around this condition.

Emily and Kylan’s Story

When Kylan was an infant, he was unable to breastfeed; trying would cause blistering and pain in his mouth. This year, shares Emily, Kylan most often develops blisters on his feet — though they can develop across his body. Emily begins each day by treating Kylan’s blisters, changing any dressing on wounds, and bathing him, a process that can take 3 hours to complete. Kylan is now able to tell her what parts of his body hurts so that she can care for them more. Of course, the last few years have not always been easy. At one point, after accidentally stepping on his foot, Emily had to take Kylan to the hospital because his foot became degloved.

However, says Emily, Kylan is still a happy child who remains in good spirits and loves to play. Emily says that she is particularly thankful for Debra Australia, a non-profit that has provided her with support and other resources. Beyond that, she hopes that an upcoming clinical trial to evaluate topical cream for EB will help bring some comfort to Kylan.

About Epidermolysis Bullosa (EB) 

Epidermolysis bullosa (EB) refers to a group of inherited connective tissue diseases. These conditions, caused by defective genes, result in fragile and delicate skin which blisters upon even light friction. Those with EB may experience moderate-to-severe skin blistering and, in severe cases, blisters may also manifest inside various organs. 

Altogether, there are three main forms of EB. First is epidermolysis bullosa simplex (EBS), which is characterized by widespread skin blistering, as well as thickened skin on the soles and palms. Next, dystrophic epidermolysis bullosa (DEB) typically presents on the hands and feet; this form also increases the risk of skin cancer. Finally, junctional epidermolysis bullosa (JEB) often manifests as thin-appearing skin and large, ulcerative blisters. Complications and other characteristics associated with EB include:

• Bacterial infections of the skin
• Fused fingers or toes
• Abnormal joint contractures
• Malnutrition
• Anemia (low red blood cell count)
• Slowed growth
• Constipation
• Tooth decay
• Sepsis