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we've just got to ride with it," he said. "And having Aviana for longer, we wouldn't change it for the world." But the McElwees are adamant: no parent should be blindsided by the diagnosis as they were. Roughly one in 40 people carry the SMA mutation. If both would-be parents are carriers, they have a one in four chance of having a baby with SMA. The American College of Obstetricians and Gynaecologists recently recommended obstetricians, gynaecologists and other related healthcare providers offer pre-pregnancy carrier screening for genetic diseases to all patients. "Amongst the heartbreak and devastation of SMA, I am saddest when parents tell me about how they prepared for a healthy child, had all the tests, didn't drink, didn't smoke and didn't know about preconception carrier screening," Farrar says. It is important to at least give parents the option to get tested, so they can make informed reproductive choices, she says. Parents may opt to undergo IVF to select an unaffected embryo. Carrier testing for SMA and other rare genetic conditions costs between $350 and $1000. The tests are not routinely offered and few parents are aware of the conditions, let alone the tests.
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