Isabella would love to slide down the sliding board, or play in the sand, or have fun with other toddlers her age. But she can’t.
As far as her mother knows, this bright, happy, outgoing 22-month-old may never get the chance to participate in many normal activities.
”Life for her has been different since the day she was born,” Melody Williams said of her daughter.
When Isabella was born three weeks premature, weighing only 4 pounds and 8 ounces, doctors knew something was wrong, but Williams says they had no definitive explanation. Isabella had stopped growing in the womb, forcing an early delivery.
“Other than her weight, she looked like a normal, healthy baby,” Williams said. “It wasn’t until I tried to remove a bandage they had put on her to cover a needle prick that I knew we needed to take her back to the hospital.”
Williams said all the skin underneath the bandage peeled off with the bandage. Soon after Isabella was returned to the hospital, she was diagnosed with a skin disease called Epidermolysis Bullosa (EB).
“I had never heard of it, and the doctor didn’t know much about it, either.” Williams said.
EB, according to the Dystrophic Epidermolysis Bullosa Research Association of America — DebRA — is a genetic tissue disorder that causes the skin to be so fragile that the slightest touch can result in blistering inside or outside the body, can affect internal organs and bodily system, and is always painful.
DebRA reports that EB, which the group has coined, “the worst disease you have never heard of,” affects only 1 out of every 20,000 live births in the United States.
“She is in constant pain,” Williams said. “Her blisters have to be popped, so there is always a threat of infection. She can’t use normal things like shampoo or soap. And when the blisters get in her stomach, she can’t eat.”
Williams continued, “Her nails look rotten; sometimes they just fall off. Her skin looks like she’s a burn victim.”
Because of her fragile state, Isabella has spent 12 months of her young life with her hands and feet bandaged. Her grandmother Bea Eaker lives in constant fear of what might happen.
“I’m scared beyond words,” she said.
Isabella has therapy twice a week. Neither her physical therapist nor her occupational therapist, both of whom have practiced for more than 30 years, had ever heard of EB.
Isabella “is delayed in both gross and fine motor skills and is missing the third protective layer of skin,” occupational therapist Gretchen Zell said.”She is more sensitive to touch.”
Zell said Isabella initially did not want to hold items in her hands but can now pick up toys.
Williams, a single parent, had worked as a medical transcriptionist and assistant but is now Isabella’s primary caregiver. Eaker, grandmother of five other children including Isabella’s 13-year-old brother, visits daily.
“Since I can no longer work, my mother helps me out so much,” Williams said. “She’s the best mother in the world.”
There is no cure yet for this debilitating, sometimes fatal disease. The family hopes that as awareness of the disease grows, more research can be done.
“Maybe people will make donations to the (DebRA) fund,” Eaker said.
Williams also said she hopes that awareness will diminish some of the rude remarks and stares she gets when she takes Isabella out.
“They make me feel like I’ve done something wrong,” Williams said.
Friday was National Rare Disease Day. For more info see: http://www.rarediseaseday.org
To learn more about EB see: http://www.debra.org