Some Facts About Sacral Agenesis
It has been found to be associated with diabetes mellitus in the mother, although not every case of maternal diabetes results in the condition. Another theory is that it may be linked to insufficient amounts of folic acid. A mutation in gene Hb9 often correlates with the condition.
The exact cause is not understood, but it is known that the condition occurs between weeks 3 through 7 of fetal development when a disturbance of the nervous system can result in any number of deformations from lesions of the vertebrae to complete fusion of the lower limbs.
The medical issues associated with Sacral Agenesis can be severe including neurological impairment related to movement, incontinence, imperforate anus, and often major birth defects, particularly malformations of the lower vertebrae, pelvis and spine. In the case of bladder deficiency, self-catherization may need to be used. A colostomy can be placed for imperforate anus.
In the past, full amputation of the legs at the hip was the treatment most often performed. Currently, to increase comfort during mobility and sitting, bones are separated at the knees and prosthetics may be fitted. Another choice is to teach the use of a wheelchair from an early age if trunk control is limited.
Assistive devices are not needed if the effects of the disease are mild. Many people with this disorder learn to ambulate using their hands and teach themselves the skills they need. Others employ crutches or braces.
The prognosis for people with Sacral Agenesis is excellent. There is not normally any cognitive impairment with this disability. Adults have the ability to live independently, attend school, and have the careers of their choice.
In fact, Spencer West climbed Mount Kilimanjaro in June 2012, on his hands; both of his legs were amputated by age 5. Mr. West is a motivational speaker, activist and volunteer. The climb was a personal achievement, but he also used it to raise funds for a water initiative in Kenya. In spite of the extreme difficulty of this feat, Mr. West stated that determination and reaching a goal was worth it.
For more inspiration and support for Sacral Agenesis, iSACRA is a new organization with resources and mentorship for those with this disorder and their families.
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