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Neonatal D diagnosis ... 6 years later

Discussion in 'Parents of Children with Monogenic Diabetes' started by Andy'sMom, Jul 27, 2011.

  1. Andy'sMom

    Andy'sMom Approved members

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    Wow - the docs think Andy has a genetic mutation versus typical Type 1. That's interesting info to get over 6 years after diagnosis! Our endo left us a voice message yesterday and I haven't gotten to speak with her yet but the gist is that Dr. Philipson's group in Chicago has identified more mutations (we sent Andy's DNA to him years and years ago but they could not identify a mutation at that time) and Andy has one of the newer mutations that they have been researching. Per endo's message, it doesn't change that he needs insulin but WOW, we may finally know what caused us to go down this crazy crazy path!

    Has anyone worked closely with Dr. Philipson or U of Chicago? My husband and I want to send in our DNA and I'm wondering if they would test our girls (non-d) to confirm they don't have the same mutation. Will keep you updated as we learn more.
     
  2. ChristineJ

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    I am currently in the process of getting my son enrolled in the MODY research at the U of Chicago. As I understand it, they will test any members of the family that are willing.

    Congratulations on your son's results! It must be very exciting, especially after all that time! :)

    Christine
     
  3. Mipsy

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    WOW! How exciting but also not so much considering teh circumstances. My son is en rolled in the research at U of C. I have been speaking with Dr. Naylor. They are testing both my son and I. They would test my husband too but based on his family history we don't think he is the carrier at all. IF my son comes back positive but I am negative, we will then test my husband. But yes, they do test all family members and I bet you could ask for your other children to be tested as well. I know with me they want to test me and know if I have it because it's part of research. Not all forms show up at the same time and I may be one who has a form of MODY but for whatever reason it will/is showing up later in my life wheras my son it started in him at around 2.

    Also, Christine has a thread in here about a facebook group and I just joined and I have to say it has been WONDERFUL talking to others about this! There may be few of us, but I think it is a pretty active group consider there are very few of us. But I also think the more of us who ban together, the more awareness can be made. Plus it helps to talk to others in the same situation.

    Do you mind if I ask what your sons story is? I am interested in hearing others stories about this. It fascinates me that we're not the only ones who have dealt with wacked out symptoms and whatnot only to be told you are NOT crazy! My son doesn't have a diagnosis yet, but they are pretty certain they will find one. There is also another mom in the facebook group who is having her family tested and both her and I were enrolled in the same week with their program. I know for us too, they told us it would take at least 4 months (or possibly less if we were lucky or have a more common form) but it could take longer and they aren't sure how much longer. The waiting time can totally suck, but it is so worth it in my opinion. I at least feel we are getting closer to our sons issues.

    Anyway, sorry to ramble on. Just get excited cuz I am new in this and it feels good to know I am not alone.
     
  4. MrsSM

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    Glad to hear you're getting some answers. It's so amazing that every day there seems to be new discoveries. Keep us posted!!
    :)
     
  5. Andy'sMom

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    I finally talked to Dr. Greeley at U of Chicago and yes, they will be testing my husband and I, both of our girls, plus my mother and my grandfather (who are currently diagnosed with Type 2). I'm pleased with all the testing as the more info the better! I hope it doesn't take 4 months ... the waiting is terrible. Amazing to finally have an answer on what this is, although Dr. Greeley suspects Andy's mutation may be spontaneous and not inherited ... we'll find out! Thanks for your comments!
     

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