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What’s Your Diagnosis Story?
My SMA diagnosis came after Mom insisted something wasn’t right. I wasn’t walking like my sister was at that age. At first, doctors brushed it off as being slow to catch on.
Finally, after the third visit, the doctor conceded. I was referred to a specialist who did a muscle biopsy to confirm the diagnosis. When my brother was born shortly thereafter, doctors said he didn’t have it. A few months later he developed a hernia. This made them come to the realization he too had SMA.Diagnosis has come a long way since then. Newborn screening is becoming the norm. Earlier diagnosis typically leads to a better prognosis. Now that treatments are available that’s more important than ever.
What is your diagnosis story? Do you think it would have made a difference to be diagnosed sooner?
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