Tripp Roth, a Pontchatoula, La., toddler who had junctional epidermolysis bullosa, died Saturday, ABC News reported. Here are details for parents dealing with this illness, dubbed "the worst disease you didn't know about."
* Epidermolysis bullosa is one of a family of inherited skin disorders in which the skin blisters in response to minor injury, says the National Library of Medicine. Varieties of the condition can range from mild to severe and deadly. Mild cases may not be caught until adulthood, but most forms are identified at birth or in childhood. Some types are linked to Crohn's Disease (an inflammatory bowel disorder) and autoimmune problems.
* According to Tripp's mother Courtney Roth, who wrote about her son's illness in her blog "EB"ing a Mommy, doctors said her son was diagnosed with epidermolysis bullosa when they noticed a lesion on his face and several blackened fingernails. Roth gives advice for other parents on her blog.
* Roth says children with EB can get blisters anywhere on the body but mostly on the face, eyelids, mucus membranes, esophagus, genital and rectal area. Some children's eyelids fuse shut from lack of skin-repair proteins and repeated scarring. Scarring will also cause skin on fingers and toes to fuse together, making movement difficult, says NLM. As the disease progresses, a feeding tube might be inserted because feeding by mouth is too painful. Throat and mouth lesions make speech challenging.
* Tripp died at two years and eight months. That's almost two years longer than most doctors give children with severe junctional EB. The disease degenerates quickly because the skin becomes so thin. In time, only the slightest pressure is needed for a blister to form.
* There is no known cure for EB, but the Dystrophic Epidermolysis Bullosa Research Association says genetic research is showing some promise for gene transfer, stem cell use and protein therapy. Clinical Trials is exploring Alwextin cream for relief of blister pain. Current treatment involves symptom care and preventative measures to reduce infection.
* Parents with a family history epidermolysis bullosa may want to explore genetic testing and counseling to explore the possibility of transmission to children, says NLM.
* NLM lists several recommendations for parents caring for a child with EB. Bandaging the skin and using topical ointments can prevent infection and further blistering. Good nutrition is essential as blisters prevent children from eating comfortably. Soft foods are recommended and temporary use of oral steroids can help children swallow more comfortably. Physical therapy, particularly aqua therapy, can help soothe lesions and help children with mobility issues from scar-damaged tissue. DEBRA says parents should be mindful of good oral care, as children's teeth are often affected by the disease, too.
Marilisa Kinney Sachteleben writes about parenting from 23 years raising four children and 25 years teaching K-8, special needs, adult education and home-school.
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