Has anyone undergone genetic testing for monogenic causes of diabetes? We are in the waiting period as R was dx at 8months. Generally they recommend 6months and under but we know a 9month old at dx that switched from insulin because she tested pos to mutation on the KCNJ11. (forgive me if i got that wrong). We wont know anyresults until Mar/April at our next endo appt.
Can anyone relate this this waiting period. argh…
for more info see here
Diabetes Genes > Information for patients and professionals on genetic types of diabetes > Home page · DOC file
I have suspected that I have MODY/monogenic diabetes, but have reached an impasse finding help or information. The US appears to be terrible for MODY, the JDRF has assumed a front line running the monogenicdiabetes.org site and the hotline. But they are incompetent, the people answering the phone knew nothing about MODY and seemed to only want my money. I asked about referrals to MODY experts in my area or testing centers and they knew nothing. I would expect more.
There is one center in the US that does work on MODY Kovler Diabetes in Chicago, they focus on forms that present in infant, so they may help. In my case, repeated inquiries went unanswered.
There are several centers in the US that will do the testing, but they are very expensive, costing at least several thousand dollars for sequencing. AthenaDiagnostics is the biggest one.
What I did find is that the worlds leading reseach and clinical center that deals with MODY is Exeter. Led by A T Hattersley, this is the center with the biggest track record, experience and team focused on MODY. You can get testing through Exeter at relatively reasonable prices, it is done for people across the world. Your doctors can consult with the experts at Exeter.
Each form of MODY is different and has different treatments and prognosis. A summary of the different types can be found at the NDIC. I am sure waiting is just terrible. But do keep your hopes up, many of the forms are really quite managable.
I emailed Exeter and they were prepared to test Reubens DNA as part of their research free, but my hospital checked for autoantibodies and decided to send his DNA away for testing here instead.
Would your treatment change if you were to get a diagnosis of MODY?
Treatment of MODY is typically different than the treatment for T1. I hope you insurance is covering the testing, $4000 seems pretty expensive compared to free.
holy cow. Ours is presumably on medicare (in Australia) because the hospital is taking care of testing the 4 most common mutations. All this talk abt insurance for test strips and stuff required to take care of diabetes. Seems insane