Fracture or brittle bones often considered normal when experienced by children . The main reason is the future development of the child who is still ongoing and has not been perfect . But is it always the case ?
When the prism of experience Lestiawati Diana ( 33 ) , such an assumption is not true. The wheelchair-bound woman is a person with brittle bone disease or Osteogenesis Imperfecta ( OI ) . Diana who was already married and had a child before the disease does not understand is OI .
" I actually found out later that this is OI . Previously I was often broken bones , but do not consider it a disease , " he told Kompas Health on Monday ( 18.11.13 ) .
Fractures , continued Diana , had endured since the age of 1 year . At that age , he had at least 4 times a broken bone , in all parts of the body .
Despite sounding spooky , nonetheless , Diana deal with the ordinary. That is because the next of kin is a mother, grandmother , and two cousins suffered from the same condition . This situation eventually just regarded as innate and not taken dizziness . Even with the impact , which inhibits the growth and mobility of Diana .
Even so Diana was still seeking recovery from the illness . " I ended up moving to Jakarta and Jepara . Here I underwent surgery to be a stable condition , and knowing what disease that strikes me . Given this knowledge , I can more readily face the conditions themselves , " he said .
Along with the recovery process , Diana aware of the consequences of the disease is genetic . That is , descendants of Diana risk of suffering from the same disease , regardless of gender. This led him to conduct regular birth control .
" From the tests were undertaken caught my child has OI , of which twisted her spine . Condition is known as gestational age 4 months . With knowledge of OI , I was more prepared for my first pregnancy , " said the mother of Devanno Emmanuel , who is now aged 2 years 9 months .
Accompanied by her husband , Rudy Herman ( 28 ) , Diana face the 9 months of pregnancy . Rudi said , no problem faced while his wife was pregnant . Even his wife still had to work as a supervisor at a restaurant , with working hours starting at 8 am until 3 pm .
Diana, says Rudi , not even broken bones during pregnancy . " But my wife is bone supplements . Currently , my wife is not working and focus on nurturing Devanno . My wife even exclusively breast-feeding , " he said . By caesarean section finally on February 8, 2011 , the couple officially get the first child .
Postnatal Devanno , Diana immediately took his son to a specialist endocrinologist who handles child OI . With early treatment , Devanno expected to grow just like other children . Devano currently preparing to undergo therapy with zolendronat that increase bone mass and density .
" Handling is certainly better early on , because we can reconstruct the density and bone structure . Additionally when immature spine so that the body can still recovering greater opportunity , " says endocrinologist RS children . Cipto Mangunkusuno , dr . Safe B.Pulungan Sp.A ( K ) .
genetic disorders
OI is a genetic disorder that results in the production of collagen , which is the basic ingredient of bone . Disruption in the gene encoding type I procollagen ( COL1A1 and COL1A2 ) cause collagen is not produced in sufficient quantities , so that people with thin and fragile bones .
As a result, patients prone to suffer a broken bone . " This condition can not always be avoided and reduced . Therefore if there are family members who have OI , immediately consult a gynecologist and children so they can be caught early , " says bone health expert from the Royal Children's Hospital , Melbourne , Australia , Dr . Margaret Zacharin .
Children with OI , said Margaret , in fact dapata detected 4 days post-partum . Infants with OI are generally difficult breathing , and chest cavity tends . When you inhale, the chest cavity is not enlarged . However, certain conditions by age 1 year , with the growth tends to be slow and the child who can not walk .
When this condition should know quickly taken to the doctor concerned . "In the future , there are a range of treatments to be performed, namely motion therapy and treatment with zolendronat . Patients should receive full support from the family and not ostracized . Although later was short , yet the disease does not affect IQ and EQ them , " said Margaret .
When the prism of experience Lestiawati Diana ( 33 ) , such an assumption is not true. The wheelchair-bound woman is a person with brittle bone disease or Osteogenesis Imperfecta ( OI ) . Diana who was already married and had a child before the disease does not understand is OI .
" I actually found out later that this is OI . Previously I was often broken bones , but do not consider it a disease , " he told Kompas Health on Monday ( 18.11.13 ) .
Fractures , continued Diana , had endured since the age of 1 year . At that age , he had at least 4 times a broken bone , in all parts of the body .
Despite sounding spooky , nonetheless , Diana deal with the ordinary. That is because the next of kin is a mother, grandmother , and two cousins suffered from the same condition . This situation eventually just regarded as innate and not taken dizziness . Even with the impact , which inhibits the growth and mobility of Diana .
Even so Diana was still seeking recovery from the illness . " I ended up moving to Jakarta and Jepara . Here I underwent surgery to be a stable condition , and knowing what disease that strikes me . Given this knowledge , I can more readily face the conditions themselves , " he said .
Along with the recovery process , Diana aware of the consequences of the disease is genetic . That is , descendants of Diana risk of suffering from the same disease , regardless of gender. This led him to conduct regular birth control .
" From the tests were undertaken caught my child has OI , of which twisted her spine . Condition is known as gestational age 4 months . With knowledge of OI , I was more prepared for my first pregnancy , " said the mother of Devanno Emmanuel , who is now aged 2 years 9 months .
Accompanied by her husband , Rudy Herman ( 28 ) , Diana face the 9 months of pregnancy . Rudi said , no problem faced while his wife was pregnant . Even his wife still had to work as a supervisor at a restaurant , with working hours starting at 8 am until 3 pm .
Diana, says Rudi , not even broken bones during pregnancy . " But my wife is bone supplements . Currently , my wife is not working and focus on nurturing Devanno . My wife even exclusively breast-feeding , " he said . By caesarean section finally on February 8, 2011 , the couple officially get the first child .
Postnatal Devanno , Diana immediately took his son to a specialist endocrinologist who handles child OI . With early treatment , Devanno expected to grow just like other children . Devano currently preparing to undergo therapy with zolendronat that increase bone mass and density .
" Handling is certainly better early on , because we can reconstruct the density and bone structure . Additionally when immature spine so that the body can still recovering greater opportunity , " says endocrinologist RS children . Cipto Mangunkusuno , dr . Safe B.Pulungan Sp.A ( K ) .
genetic disorders
OI is a genetic disorder that results in the production of collagen , which is the basic ingredient of bone . Disruption in the gene encoding type I procollagen ( COL1A1 and COL1A2 ) cause collagen is not produced in sufficient quantities , so that people with thin and fragile bones .
As a result, patients prone to suffer a broken bone . " This condition can not always be avoided and reduced . Therefore if there are family members who have OI , immediately consult a gynecologist and children so they can be caught early , " says bone health expert from the Royal Children's Hospital , Melbourne , Australia , Dr . Margaret Zacharin .
Children with OI , said Margaret , in fact dapata detected 4 days post-partum . Infants with OI are generally difficult breathing , and chest cavity tends . When you inhale, the chest cavity is not enlarged . However, certain conditions by age 1 year , with the growth tends to be slow and the child who can not walk .
When this condition should know quickly taken to the doctor concerned . "In the future , there are a range of treatments to be performed, namely motion therapy and treatment with zolendronat . Patients should receive full support from the family and not ostracized . Although later was short , yet the disease does not affect IQ and EQ them , " said Margaret .
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