https://padlet.com/ashley_witto/1oqqzj4hsgab Brittle Bone Disease en-us 2017-09-30 00:54:11 UTC 2017-09-30 01:31:49 UTC hello@padlet.com ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631351 *Defect in the genes that produce the precursor of collagen
*Genetically linked, autosomal dominant, heterogenous disease
*Child suffers from fractures & skeletal deformities
*Disorder may be so severe infant may not survive the birthing process]]> 2017-09-30 00:58:43 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631351 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631721 2017-09-30 01:07:01 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631721 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631848 2017-09-30 01:10:55 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631848 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631905 *Prenatal screening typically not performed for this rare disorder, early identification is by death in utero or a newborn suffering many fractures during birth
*If prenatal diagnostics are done and disease is identified in utero, infant must be delivered via c-section for greatest chance of safety and survival
Child may or may not present with:
1.  bluish discoloration of the sclera
2.  hearing loss
3.  joint laxity (looseness, flexability)
4. poor structure of bones that support the teeth]]> 2017-09-30 01:12:35 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192631905 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632197 Cannot be treated medically

Supportive care and genetic counseling offered

Goal is to reduce possibility of further fractures, prevent development of contractures, promote safety, & reduce injury]]> 2017-09-30 01:20:07 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632197 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632409 Newborns, infants, and young children require special handling to prevent injury

Very specific guidelines needed about restricting activities while promoting play, socialization, education, and development

Education is required for family to understand the severity of the disease and how its genetically linked

Encourage families to seek support and further education from national organizations for OI

*National Organization for Rare Diseases & the Osteogenesis Imperfecta Foundation ]]> 2017-09-30 01:24:09 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632409 ashley_witto https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632706 2017-09-30 01:31:34 UTC https://padlet.com/ashley_witto/1oqqzj4hsgab/wish/192632706