Osteogenesis imperfecta
If you have ever binge-watched Grey’s
Anatomy on Netflix or have the patience to watch the season (if not, SPOILER
ALERT), you have more than likely seen the episode where April and Jackson
found out their baby had Osteogenesis Imperfecta. From that episode on, you can
definitely see the fear that the doctors/parents went through because they knew
the multiple possibilities and effects the baby may have once it was born. After
re-watching the devastating episode of the birth of the baby and the death
shortly after indicates the pain that family’s go through when their baby has
this genetic disorder. After watching this episode, I decided to look more into
this disorder.
According to the National Human
Genome Research Institute, osteogenesis imperfecta (OI) is a genetic disorder
that causes a person’s bones to break easily often from little to no apparent
trauma, which gives it an alternative name “brittle bone disease”. The severity
of this disorder varies from person to person, with the severe type resulting
in death before or shortly after birth. Addition to the brittle bones, people
with OI also have problems with their teeth, hearing loss, muscle loss, loose
joints, and skeletal malformations when they are adults. OI is not that common
with it occurring in approximately 1 in 20,000 people, with equal frequency
among males and females. The life expectancy seems to vary from the lethal form
at birth with OI type II to an average life expectancy with health issues.
A majority of OI is caused by a
single dominant mutation in one of two type I collagen genes (COL1A1 or
COL1A2). These collagen genes provide instructions for making proteins that are
used to create a larger molecule called type I collagen, which is the most
common protein in bone, skin and other tissues in the connective tissues. OI
type VII is caused by recessive mutations in the CRTAP gene. There is currently
no cure for OI and there is some treatment for this, such as supportive therapy
to decrease the number of fractures and disabilities. This disorder is an
autosomal dominant pattern that is inherited and is found be difficult to live
with. After reading through the National Human Genome Research Institute
website, I understand why parents who discover that their child has this
disorder are extremely worried about what type (I, II, III, and IV) their child
has because it varies on the severity of the disorder.
If OI is as rare as 1/20k as an autosomal dominant, how often can OItypeIV even occur (recessive)?
ReplyDeleteThis is definitely something that no one would want for their children. I do however find it interesting that a disease that isn't as commonly talked about was discussed and a major plot point for a popular show, and could maybe bring awareness to this disorder.
ReplyDeleteI have never heard of this before but it sounds terrible. It is scary how many diseases aren't talked about because they aren't that common. At least there is Grey's Anatomy to bring at least one of these diseases to light!
ReplyDelete