Got a video call with consultant later this month
Thanks for replyingThanks for the tag EllieM. I was lucky in many ways in getting my diagnosis. I was initially thought to have t1 early May 2021. My partner had gestational diabetes and I started monitoring my own blood glucose with her kit out of curiosity - 26mmol was my first reading. I probably would not have found out about my diabetes till much later on if my partner did not have GD. My first hba1c was 104. My daughter was born shortly afterwards at the end of may. As a precaution the doctors/nurses checked babies bg because of my partners gd and it was found to be so low as to not produce a reading. She has Congenital Hyperinsulinism, which we were lucky to find straight away. After around 3 weeks in neonatal unit blood was taken from all 3 of us. From these samples it was determined that me and my daughter have a pathogenic variant in the potassium channel gene ABCC8. I believe this means I have MODY 12.
What I have gathered is I have diabetes caused by a single gene. T2 diabetes can be influenced by something like 70 different genes, but in the case of Monogenic diabetes a single gene is responsible. There are (I think) 14 different MODY types currently recognized and they are all different. I believe it's possible to have different variations within the same MODY type so experience diabetes differently, my daughter having hyperinsulinism as an example. Some MODY types are more common than others and a lot of people with MODY can avoid medication. I think most types benefit from sulfonylureas rather than metformin because the mechanism is to stimulate the pancreas to release insulin. Most of us (maybe) can produce insulin, we just don't release it appropriately into our system. So it is a seperate thing from T1/LADA and T2, although certainly possible to get multiple types of diabetes.
I am able to manage currently without medication.
"patients with dominantly acting loss‐of‐function (inactivating) variants" (me) "are not predicted to be highly sensitive to the glucose
lowering effects of sulphonylurea drugs". It seems possible I might need insulin in the future. My last 2 hba1c were 29 and 31 thanks to mostly keto and IF. This week I had a bad cold and was covered in hives last yesterday. Also I had a lot of chocolate over easter period, so my libre2 has been reminding me that I'm definitely still a diabetic.
I am just curious as to why you don't want insulin Debbie?
Some details for any web searchers as I'm always trying to find out more:
Gene: ABCC8
Zygosity: Heterozygous
Inheritance: Not Known
HGVS description :
NM_001287174.1: c.4610C>T p.(Ala1537Val)
Location: GRCh37 (hg19) : Chr11:g.17415245G>A
Classification : Pathogenic
In conversation my DN mentioned she has a number of patients with a fear of needles using retractable needles. Hope your appointment goes well.Thanks for replying
I can hypo on 20mg of gliclazide & often do if I don’t eat enough, luckily I have a bmi of 18.1 & don’t put weight on
Insulin terrifies me, live in the countryside, 5 miles to any public transport so need to be able to drive, also have an inane fear of needles, I’ve got libre so only usually prick my finger once a day or when libre is giving me a reading I don’t like, consultant appointment on 19 May so hopefully he’ll have some answers
Just had letter confirming hnf4a MODY
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