A New Diagnosis

On Monday, I awoke,took my child to the baby sitter(as schools were closed for the Jewish New Year) and came back to a voicemail on my phone."call us immeadietly." (Signed, Genetics Dept.of University)I called. I knew in my gut they were going to tell ME I was the reason for my child's genetic condition because that is how it is,my husband is the largely healthy one."we got the results back...Breathe.And you also have the 17Q12 deletion."Well, joy. And does this mean I have MODY as well?""yes,but we need to communicate with Dr.S (adult geneticist-it was J's genetic counselor who called me) to formulate a plan of action that will also involve your endocrinologist."I didn't cry this time,because frankly it makes perfect sense that the weird health stuff that has happened all my life beginning at babyhood when no one could figure out why my head was so large and I only wanted to sleep,not eat.(many tests later) was in fact related to a genetic condition. Or why my spine is not straight,or the tinnitus that began when I was 12 years old. Or why I've gotten chicken pox, Shingles,and Lyme disease in my first 20 years of life. Or why the diabetes came on over 6 months and the magnesium issues as well.New Diagnosis: 17q12 micro deletion. Magnesium issues from that. Not Bartters Syndrome. Probably not type 1, because it specifically encodes for MODY 5 diabetes. Like,basically impossible to have type 1.Basically the news feels like I'm a freak of nature,because this happens a...
Source: The D-Log Cabin - Category: Endocrinology Authors: Source Type: blogs