Monday, December 21, 2015

Year in Review: Diabetes Style

Hi kids! It's the most wonderful time of the year,in which you get updates from your great aunt's uncles friends dog and actually,it's kind of fun. No one ever sends updates on their diabetes though because I guess it crosses up comfort levels in the worst way. No one wants to hear about your betes misadventures. Anyway,2015 was the year that challenged me in ways previously not ever imagined so I'm going to break those social norms and give you a review of how my year went.

February: Child had an MRI. Child had a karotype blood test,to check for chromosome abnormalities.

March: Childs blood test comes back positive for chromosome micro deletion. (With a possibility of MODY diabetes)World ends.(or just feels like it does) DUnConference in Vegas proceeds,
an amazing diabetes experience that 
does much good to a hurting heart.

June: Childs blood work and abdominal ultrasound come back normal.

July: Friends for Life conference in Orlando. Find out about beginning  NPDR complications (both eyes). Cry a lot. Crawl back from emotional hit in heart.

August: Childs first appointment with pediatric endocrinologist. Talk about MODY testing. Current a1c at 5.6 and all blood work good so agree on periodic blood testing and yearly a1c check.

September: Own appointment with geneticist. Send off blood for specific karotype testing.
Karotype test comes back positive for same chromosome abnormality, raising extremely strong possibility of having MODY 5 not type 1 diabetes.

October:
Part 1 Artificial Pancreas study admission. Data collection begins.

Have tear in right eye's virtreous fluid. Stressful stat appointment with Retina dude reveals that it is a common thing with age or with cataract surgeries of which I had 16 years ago. Reassured retina is not detaching but the new floater may be permanent,or it could go away over the months. It is not directly diabetes related.(everything else is stable/good.) Recheck in February.

December: All antibodies other then GAD come back negative.(GAD was very positive) Confirmed by geneticist that it is MODY 5, and not type 1 diabetes. Also not Bartters Syndrome.Endocrinologist gives RX for trial of sulfonurea. 
Part 2: Artificial Pancreas study. Real deal . So,so, so incredible.(#ILike)

In conclusion,everything I thought about my body was essentially proved wrong this year,I got three new diagnoses,and my son can get MODY as well. (Which feels bad but anyone can get type 1 too so I'm not sure why it feels so bad. Every parent with D is afraid their child will also get it.(on the plus side,he's had no elevations in blood sugar and all the labs are good.)  I'm waiting to January to try sulfonureas because it's going to be a very interesting can of worms to open,& my Endo gave me explicit instructions on how to do it all.(the drug causes hypos very readily) It's really unknown as to whether MODY 5 people can use sulfonureas,usually MODY 2's have more luck with them. MODY 5 is super rare and MODY 2 is the most common kind. MODY 5 is generally associated with complete insulin dependence just like type 1. But it's worth a shot.(obviously,it's not a good idea to go off insulin entirely,it would be more of an adjunct therapy) The geneticist informed me that I'm the one and only MODY 5 she's ever seen.(she did see a MODY 2) It still feels surreal,after 17 years of thinking that I'm type 1. Few people have ever heard of it,much less know what it is. It's easier just to say you have type 1,at least as this point. HCP have at least heard of that. I don't even know much about it much less how to explain it to someone else.(there's limited info on the Internet) It's so very similar to type 1(islet destruction) yet it's different too. And I'm going to be spending the rest of my life unpacking this, I guess.


5 comments:

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