http www dappercadaver comraybrokenarmradiusandulnap1310 html Osteogenesis Imperfecta Chelsea

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/News 2? page=News. Article&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/14712156/10/16/figure/F 6%3 Fhighres%3 Dy&usg=__tqp 9 j. QGX 4 pax_Sv. Qz. Ml. Pj. Vg. Cx 5 Q=&h=368&w=1200&sz=21&hl=en&start=1&um=1&itbs=1&t bnid=U_j 7 O 1 Cu. Cyry. RM: &tbnh=46&tbnw=150&prev=/images%3 Fq%3 Dpedigree%2 Bof%2 Bosteogenesis%2 Bimperfecta%26 um%3 D 1%26 hl %3 Den%26 tbs%3 Disch: 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? http: //medgen. genetics. utah. edu/photographs/diseases/high/pe ri 021. jpg • Infants – Rolling – Burping – Being picked up • Children – Kicking – Jumping rope – Skipping • Adults http: //medgen. genetics. utah. edu/photographs/diseases/high/peri 022. jpg

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

Adulthood • Normal life? • Children? http: //blogs. monografias. com/sistema-limbiconeurociencias/2010/04/26/osteogenesis-imperfecta-and-a-mother-smaller-than-herinfant-son/

No Cure • Physical therapy • Braces and casts • Medicines being tested – Bisphonates, 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-limbiconeurociencias/2010/04/26/osteogenesis-imperfecta-and-a-mother-smaller-than-herinfant-son/ OI Foundation. 2007. “Facts about Osteogenesis Imperfecta”. Available: http: //www. oif. org/site/Page. Server? pagename=AOI_Facts OI Foundation. 2001. “Types of OI”. Available: http: //www. oif. org/site/Page. Server? pagename=AOI_Types OI Foundation. 2007. “Myths about OI”. Available: http: //www. oif. org/site/Page. Server? pagename=AOI_Myths OI Foundation 2007. “Child Abuse Allegations”. Available: http: //www. oif. org/site/Page. Server? pagename=RES_Child. Abuse Medline. Plus. 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