DWQA QuestionsCategory: QuestionsChanges in SCAD diagnosis
Mary Shisler asked 4 years ago
My 35 year old daughter was diagnosed with SCAD in 1996 by Niels Gregersen and Dr Piero Rinaldo. Supposedly my husband and boys both have it as well (DNA: AA) and I am a carrier (GA). We have no symptoms, but my daughter has multiple issues: trach, G-tube w esophageal dysmotility, congenital hip dysplasia, developmental delay and a multitude of other problems. She was premature with low birth weight, failure to thrive and unable to swallow. When I read about SCAD on your site, and it mentions it is benign, I’m wondering if we had a misdiagnosis or if she could have different mutations? Has there been great progress made that my sons shouldn’t have to worry about their own children having this severe a disorder? Is there a treatment beyond carnitine and frequent meals? Obviously, my daughter cannot be changed by medication now, but my concern is for my grandchildren. I appreciate any information you can give me.
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1 Answers
INFORM Physician answered 4 years ago
Ms. Shisler, we’ve learned a lot about SCAD deficiency since it’s original description 35 years ago. In those days, it was only identified in patients who had some sort of medical problem, and it was diagnosed in a lot of patients. However, it turned out that most of these individuals had variants in the the gene that did not affect the function of the enzyme and were so common in the general population that it was very unlikely to be playing a significant role in disease. Some questions remained about individuals who had changes in the SCAD gene that completely inactivated it. However, with the advent of newborn screening, we’ve come to recognizing that the vast majority of babies identified as having SCAD deficiency ended up being well. Babies who had problems were instead shown to have some other condition. Finally, there turns out to be a variant that completely inactivates SCAD that is common in the Ashkenazi Jewish population and Israel. These individuals are also well. So now we don’t think of it as a clinically relevant disease, but a biochemical feature of little or no relevance. Thus anyone who has a genetic or biochemical diagnosis of SCAD deficiency who has other problems should have a thorough work up to look for other causes of those problem. Hope this helps. Dr. Vockley