MODY diagnosis

[DEBBIESCOTT]

Had gestational diabetes with my son 25 years ago
Told I wasn’t safe to be at home with a toddler & premature baby without insulin which I refused
A1c’s mainly ok since then (told I was diabetic, then I wasn’t, then I was)
Last May a1c was 128 & started 80mg gliclazide, 1st dose dropped my b/g from 18 to 6 in an hour
Saw DSN a week later, she thought she was going to put me straight onto insulin but reduced the dose instead
Offered insulin again last summer, refused again
Saw doctor at local hospital twice last summer , 2nd time told I wasn’t technically diabetic & stopped gliclazide
DSN put me back on 20mg (still hypos with that dose)
Metformin did nothing but raised my resting heart rate by 15-20 beats a minute
Now been diagnosed with MODY & feel like I haven’t a clue what to do anymore
Got a video call with consultant later this month

 

[EllieM]

Got a video call with consultant later this month

This is where the consultant should hopefully be of some use, since I have my doubts that a GP will have even heard of MODY, let alone know how to treat it. And the good news is that you now have a definite diagnosis, and a reason for the somewhat erratic nature of your diabetes.

Do you know which variety of MODY you have? There have been a few posts from MODY folk on here, but I think the genetic type does make a difference?

Good luck. Hopefully you will soon get on top of it all (and I'll know who to tag when a new member comes in with this diagnosis. )

For now, I'm tagging @boggle , who I believe has MODY.

 

[ert]

You are so lucky to have a diagnosis. Hopefully, it may mean you can manage without needing to inject insulin. Keep us posted with how you are getting on.

 

[In Response]

Wow, you have been through the wringer. The great news is that you now have a diagnosis AND a consultation with a consultant who can help you manage.
You obviously have loads of questions. Write them down and ask them in your meeting. Video calls are fantastic for that as you don’t feel so conspicuous with your pen and paper as you do face to face.
If you do need insulin, don’t be afraid. Many of us live very full and active lives. There are sportsmen and women taking insulin, there are actors, comedians and there was even a prime minister. Type 1 women have been successfully taking insulin and having children for decades.
Good luck with your consultation.

 

[boggle]

Thanks 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

 

[DEBBIESCOTT]

Thanks 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

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

 

[Hertfordshiremum]

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

In conversation my DN mentioned she has a number of patients with a fear of needles using retractable needles. Hope your appointment goes well.

 

[DEBBIESCOTT]

Just had letter confirming hnf4a MODY

 

[EllieM]

Just had letter confirming hnf4a MODY

I guess you google and get a list of questions to ask your consultant???