Friday, September 18, 2015

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...


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 at the very basest of levels. I don't know if this effects lifespan (I'd like to think it doesn't but who knows) and the MODY 5 puts at risk for liver and kidney dysfunction. I guess the good news is that I have above average IQ, it hasn't effected that but can it? Also the chances of passing it on to offspring are 50/50.(hence the reason J has it,& it affects people different ways so that some people cannot live independently.) I'm already being monitored by a kidney doc,but there will be a whole new care plan with aspects of what I might be likely to get.(Different from J's plan,as they don't know what his level of functioning will be as for now he has none of the physical problems.) My Endo will also collaborate with the geneticist as it may be possible for me to take some oral medication with insulin,to lower the amount of insulin I take.

And that's where that's at. I'm still kind of stuck in the disbelief stage. (With all of this) And dealing with the knowledge that this was no random error that caused me to give it to my son.
Diabetes still sucks & these waters are uncharted.(read: mini identity crises if I no longer fit in the type 1 world)


Colleen said...

When you first posted this, I was surprised and shocked for you. Sending hugs, prayers and wishes that you can keep calm while learning all of this.

StephenS said...

Heidi, I can only hope that knowing is better than not knowing. I also hope that things get easier from now on.

Anonymous said...

are you a little bit on the autism spectrum or atypical socially ?
not meaning that in a bad way . just out of curiosity . nothing wrong with being atypical :)

what has the range of your a1c's been .

also one thing good is you have never struggled with your weight which a lot of T1s do :)

Anonymous said...

i know you / know of you from around the DOC .I would say you have similar facial features to people with that genetic condition now that I look . but you look perfectly average . but if you google it and look at the pics there is almost like a familial resemblance.

also certain things about your interests and the intensity of your interest recommend me of females on the autism spectrum . you also seem socially kind of naive - like you latched on to some interesting people - not to name names but specific people from the circa 2001 to 2005 CWD chat. not going to include commentary on the people I have in mind out of respect, bc it might come across as judgy (i know not a real word )

I think on reflection you might conclude that nursing school and the profession can be very xenophobic - in certain ways and for lack of a better term - and certain people tend to be left out in the cold for being different

you may already know this but Asperger's in females goes undiagnosed a lot of times . there are some books on this subject - " Asperger's in pink" comes to mind . although i have not read any books on the subject .

although Asperger's is not a diagnostic category anymore and its all classified as ASD . but some of your interests seem quite intense.

good luck with all of this . you seem like you have been lucky diabetes wise . i think when your only basis of comparison is people in the DOC it might not seem that way , but a lot of people dx'd as adolescents don't fair all that well and have a lot of complications 15 or so years in , and certainly can't boast such an uneventful pregnancy .

at the end of the day you are a pretty cool lady . i don't know the whole story behind your nursing journey , but I wish you luck if your decision is to continue down that path. as you may have realized you really have to go along to get along in nursing . and nursing as a profession and academic discipline is a cruel mistress .

Anonymous said...

the little girl in the first pic reminds me of you in terms of appearance

HVS said...

Anonymous, I don't think that I look "like that" per say..and its one individual out of many who have this. This being the Internet,I may come off as a certain way and its not entirely representative of who I am. I really don't think I have autism or Aspbergers but yes I have always been the introverted,prefers little social interaction type. Maybe in some respects I am socially inept,but that has to do with a sheltered childhood(homeschooled all 12 grades) in a very controlled environment. Not that that was a bad thing,but there were (and are)things that I had to learn. Having been homeschooled,there wasn't so much empathesis on "there might be an issue,let's test" more like "they are just delayed,they'll catch up" plus there was no money for testing/special services anyway. As a homeschool kid the only school interaction was once a year when we took standardized testing. I honestly don't know if I have autism (any things possible),as an introverted adult in an extroverted world I do prefer to have a few good friends vs many. Thank you for your input.
My a1cs have been 6.5- 9.3. Not stellar,but not the kind that breed horrible immeadiete complications. I guess there has been some luck involved (or protective genes) because the complication I got certainly could have showed up before now.

Scott K. Johnson said...

Always a sister to me, H. Sending lots of love and hugs.