They all have “Unbreakable Spirits”

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Presentation transcript:

They all have “Unbreakable Spirits” http://www.dappercadaver.com/ray-broken-arm-radius-and-ulna-p-1310.html Osteogenesis Imperfecta Chelsea Christensen They all have “Unbreakable Spirits”

The Basics “Brittle Bone Disease” Mainly caused by a collagen deficiency Dominant, Recessive and Spontaneuous Mutations

Traits Shown By Most All Types have their own characteristics General characteristics that stay the same Short stature Fragile skin and joints Easy bleeding Curve of spine http://www.oif.org/site/News2?page=NewsArticle&id=7395

A Pedigree From an Amish Family http://www.google.com/imgres?imgurl=http://www.biomedcentral.com/content/figures/1471-2156-10-16-6-l.jpg&imgrefurl=http://www.biomedcentral.com/1471-2156/10/16/figure/F6%3Fhighres%3Dy&usg=__tqp9jQGX4pax_SvQzMlPjVgCx5Q=&h=368&w=1200&sz=21&hl=en&start=1&um=1&itbs=1&tbnid=U_j7O1CuCyryRM:&tbnh=46&tbnw=150&prev=/images%3Fq%3Dpedigree%2Bof%2Bosteogenesis%2Bimperfecta%26um%3D1%26hl%3Den%26tbs%3Disch:1

The Dominant Side of Things Types I through V Type I- most common Type II- most severe Type III- most severe past infant stage Type IV- moderate Type V- moderate

Rare Recessives Type VII- with total loss of cartilage it is lethal Type VIII- severe growth deficiency Type VI- is undetermined

Diagnosis of OI Usually a clinical diagnosis based on the physician’s observations. Collagen analysis using skin sample or DNA sequencing with a blood sample Ultrasound may detect abnormalities at 14-18 weeks, or through amniocentesis.

What Can Cause Breaks? Infants Rolling Burping Being picked up http://medgen.genetics.utah.edu/photographs/diseases/high/peri021.jpg Infants Rolling Burping Being picked up Children Kicking Jumping rope Skipping Adults http://medgen.genetics.utah.edu/photographs/diseases/high/peri022.jpg

How Some Manage Life Limitations Aids No sports Parents taught how to hold babies Aids Wheelchair Crutches

Adulthood Normal life? Children? http://blogs.monografias.com/sistema-limbico-neurociencias/2010/04/26/osteogenesis-imperfecta-and-a-mother-smaller-than-her-infant-son/

No Cure Physical therapy Braces and casts Medicines being tested Bisphosphonates, they include medications titled Aredia©, Fosamax©, and Reclast©

Child Abuse Allegations very common with OI cases Work with your doctor to avoid allegations Protect yourself from being listed as an abusive parent

Common Myths A baby should be carried on a pillow and discouraged from moving OI is a childhood disorder that one grows out of by their teens All children born to parents with OI will have OI

Meet Leah 16-months old 70 breaks http://www.mlive.com/news/muskegon/index.ssf/2009/12/family_demonstrates_it_has_an.html

Works Cited Larocca, Felix. 2010. “Ostegenesis Imperfecta and a Mother Smaller than her Infant Son”. Available: http://blogs.monografias.com/sistema-limbico-neurociencias/2010/04/26/osteogenesis-imperfecta-and-a-mother-smaller-than-her-infant-son/ OI Foundation. 2007. “Facts about Osteogenesis Imperfecta”. Available: http://www.oif.org/site/PageServer?pagename=AOI_Facts OI Foundation. 2001. “Types of OI”. Available: http://www.oif.org/site/PageServer?pagename=AOI_Types OI Foundation. 2007. “Myths about OI”. Available: http://www.oif.org/site/PageServer?pagename=AOI_Myths OI Foundation 2007. “Child Abuse Allegations”. Available: http://www.oif.org/site/PageServer?pagename=RES_ChildAbuse MedlinePlus. 2010. “Osteogenesis Imperfecta”. Avaible: http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html Robinson, Loretta. 2009. “Family Demonstrates Unbreakable Spirit Dealing with Child’s Brittle Bone Disease”. The Muskegon Chronicle. Available: http://www.mlive.com/news/muskegon/index.ssf/2009/12/family_demonstrates_it_has_an.html