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#1
12-13-2011, 08:21 PM
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University of Chicago Monogenic Study--Questions
Just contacted Univ. of Chicago/Monogenic Studies and they told me my son might be a good candidate for the study.
I am worried because although he does meet a lot of criteria there is no one else in our family with diabetes. Would this rule out monogenic? or just some types of monogenic? Has anyone else done the study or one like it? What does it entail? Is it a lot of paperwork to get "approved"? 
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#2
12-13-2011, 09:34 PM
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My son and I weren't involved in any particular study, but because he was diagnosed at 4.5 months, his endocrine doctor arranged to have us tested for monogenic diabetes. I was misdiagnosed with Type 1 when I was 18 months old, and there was no family history of diabetes at all in my family, so having no history doesn't rule it out, there are some forms that occur spontaneously. BUT because I have it, there is a 50% chance that it will be passed on.
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------------------------------------------------- Stephanie, misdiagnosed Type 1 December 26/77 Diagnosed monogenic R89C mutation of INS gene January 2011 (Permanent Neonatal Diabetes) MM Paradigm Veo 754 - June 22, 2011 Son, diagnosed monogenic August 10, 2010, R89C mutation of INS gene (Permanent Neonatal Diabetes) MM Paradigm Veo 554 since diagnosis Last edited by smcnair; 12-14-2011 at 07:19 PM. Reason: mistake
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#3
12-14-2011, 12:15 PM
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It's been a while so I'm not entirely positive but I think for us it was just a lot of questions I had to answer on a survey on the computer. Most of the questions were about his initial diagnosis and as much as you can remember about symptoms before diagnosis. I think there were also some questions related to the pregnancy but I think that's more for research purposes than for qualification. There doesn't have to be a familial history to qualify. In the case with Neonatal Diabetes, approximately 90% of the cases are a spontaneous mutation. As he was diagnosed very late, it might possibly be a form that is considered transient. I know of one family where a grandfather was diagnosed @ 21 years old, the father was dx around 2 and the baby was dx at just a few weeks old and is now in remission. The more kids they test, the more they are finding anomolies like this. Keep pressing on. There are still many that they have found that have a monogenic cause, but they haven't found the specific mutation. Just keep in the back of your mind that not all monogenic diabetics respond to the oral drugs, but I personally believe it's worth it to find out.
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Christy, wife of Dan and mom to two sweet babies Andy, DOB 4/18/05 dx'd @ 4 months old 8/24/05, PDD-NOS, ADHD, Absence Seizures, Sensory Integration Dysfunction, Hypotonia, Finally Potty Trained (During the Day)!!!!! Yeah  Katie, DOB 8/18/09 dx'd @ 10 days old 8/28/09 Developmentally Delayed 3-8 months mostly in speech  Both with Neonatal Monogenic Diabetes with the V59M mutation of the KCNJ11 gene. Both on glyburide pills. http://www.babieswithdiabetes.com
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#4
01-04-2012, 12:14 PM
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I highly recommend doing it. The researchers at U of Chicago contacted us about 6 months ago, having identified a new genetic mutation in Andy's DNA, leading to a change in his diagnosis from Type 1 to permanent neonatal diabetes. Our endo had sent Andy' DNA to U of C 4 years ago when they were researching a different gene and he did not have that mutation, but now, years later, they found another one. I would not hesitate to get involved with this group. We have sent in DNA for all immediate family members in case it helps with their research, but we have no family history of diabetes. We are now waiting to learn more about this particular mutation, as the research is very new.
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Mom to Andy - 8 years old, dx at 10 months, Novolog and Lantus Mom to Lauren - 6 years old, non-d Mom to Abigail - 4 years old, non-d Wife to Peter - 14 years and going strong 
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