Baby With Rare Genetic Disease Born Without Skin In "Critical" Condition

Ja'bari (not pictured) has been in intensive care since his Jan. 1 birth. Chaikom/Shutterstock

This article has been updated since its original publication to include Ja’bari’s most recent condition and quotes from his mother.

A baby born without skin due to a rare genetic disease has spent his first four months undergoing intensive medical treatment and pain management in the hopes of saving his life.  

Ja’bari, a Swahili name that means “the brave one”, was born on January 1 weighing just 1.36 kilograms (3 pounds) with most of his skin missing, except on his head and legs. He suffers from an extremely rare genetic connective tissue disorder known as epidermolysis bullosa (EB), which results in fragile skin that easily tears or blisters from even the most gentle friction, rubbing, or scratching. Minor cases may simply cause blistering of the hands, feet, knees, and elbows, while the most severe cases, such as autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS), may result in widespread missing skin – often caused by events that happen during birth – and blistering on the body and inside the mouth and digestive tract.

Physicians at Texas Children’s had to act in order to cut scar tissue that caused the infant’s chin to fuse to his chest. His eyelids have been fused since birth. IFLScience spoke with a representative at Texas Children’s Hospital who confirmed that the child was listed in “critical” condition, but the infant's mother Priscilla Gray adds that her son is now stable and is "doing very well." 

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"Doctors didn't think he was going to be able to handle the surgery since he's so small," Gray told IFLScience, adding that her son is "very tough".

These potentially life-saving procedures nearly didn’t happen when the family’s insurance provider said the child’s transfer and treatment at Texas Children’s was out-of-network. Medicaid later reversed its decision, and the family has set up a GoFundMe page to help offset associated costs.

Gray writes that her pregnancy was “going good” until an ultrasound showed that her baby wasn’t gaining weight. Doctors at a San Antonio, Texas, hospital induced her at 37 weeks and performed an emergency C-section when the baby’s heart began to drop. Last week, the infant was transferred to Texas Children’s Hospital where specialists are better equipped to treat him, reports the San Antonio Express-News. Currently, Ja’bari is taking medication for his pain and is frequently receiving dressing changes, as well as topical ointments to decrease the risk of infection. He has gained 2.26 kilograms (5 pounds) since birth and is fed through a tube in his nose. 

“Each and every day is a blessing that he is still fighting to live on this Earth,” wrote his mother, adding that she and her husband are undergoing genetic testing to determine if they are carriers of the gene. 

Drawing of blister formation in skin diseases such as Epidermolysis bullosa, where the epidermis separates from the basement membrane and dermis. Blamb/Shutterstock

 

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