Unborn baby at risk of Rare Diabetes - 6q24 duplication

[RDD10]

Hi

I'm looking to see if anyone has experienced anything similar but I'm 32 weeks pregnant and my baby is at risk of a rare form of neonatal diabetes as a result of a 6q24 duplication from the paternal side. We knew the baby would have a 50/50 risk of inheriting the gene and will be tested immediately at birth. Reality is starting to hit home now as my scans with the consultant have increased from monthly to fortnightly as one of the signs the baby my have the gene is that from 7 months the baby stops growing in the womb and will be born with an extremely low birth weight. As there is so little known about the type of Diabetes its hard to wrap our heads around what we need to mentally prepare ourselves for. My partners parents were unaware of the type of Diabetes when he was born and he almost died so we're one step ahead in that sense but I still feel lost.

If anyone can offer any words of advice I'd be extremely grateful.

Thank you

 

[everydayupsanddowns]

Welcome to the forum @RDD10

I’m afraid I know next to nothing about neonatal diabetes.

I’m not sure if there is anything of any use here:

Neonatal diabetes

Neonatal diabetes is a form of diabetes that is diagnosed under the age of six months. What is neonatal diabetes? Neonatal diabetes is a different type of diabetes than the more common type 1 diabetes as it’s not an autoimmune condition (where the body has destroyed its insulin producing cells).

www.diabetes.org.uk

and

Neonatal diabetes

Neonatal diabetes is a form of diabetes that is diagnosed under the age of six months. What is neonatal diabetes? Neonatal diabetes is a different type of diabetes than the more common type 1 diabetes as it’s not an autoimmune condition (where the body has destroyed its insulin producing cells).

www.diabetes.org.uk

I don’t know if the different genes significantly alter the management and treatment options?

 

[everydayupsanddowns]

It looks like the Royal Devon and Exeter is something of a soecialist centre for study and research

Unfortunately the links on their website for 6q24 aren’t working, but you may be able to find an email and contact them?

Diabetes Genes > Information for patients and professionals on genetic types of diabetes > Home page

Diabetes Genes - Researchers working in molecular genetics, human physiology, biochemistry, clinical investigation, and patient care.

www.diabetesgenes.org

 

[RDD10]

It looks like the Royal Devon and Exeter is something of a soecialist centre for study and research

Unfortunately the links on their website for 6q24 aren’t working, but you may be able to find an email and contact them?

Diabetes Genes > Information for patients and professionals on genetic types of diabetes > Home page

Diabetes Genes - Researchers working in molecular genetics, human physiology, biochemistry, clinical investigation, and patient care.

www.diabetesgenes.org

Thank you. I'm hoping I'll have more contact with them as the babies genetics testing will go via them, they also diagnosed my partner 6 years ago. There just seems to be a period of time at the moment where there's little information to help us deal with what's to come and no support emotionally.

 

[PhoebeC]

Sorry you are going through this. Keep strong.

 

[Pumper_Sue]

Hello and welcome to the forum.
I believe the person you need to email is Andrew Hattersley. He is very approachable so don't worry about contacting him. His email is on the web page https://www.diabetesgenes.org/meet-the-team/

 

[everydayupsanddowns]

Thank you. I'm hoping I'll have more contact with them as the babies genetics testing will go via them, they also diagnosed my partner 6 years ago. There just seems to be a period of time at the moment where there's little information to help us deal with what's to come and no support emotionally.

Sorry you aren’t getting the emotional support you should. it must be very tough dealing with the uncertainty.

 

[RDD10]

Hello and welcome to the forum.
I believe the person you need to email is Andrew Hattersley. He is very approachable so don't worry about contacting him. His email is on the web page https://www.diabetesgenes.org/meet-the-team/

Thank you!