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How many of us are there...

Discussion in 'MODY' started by kierbabi09, Sep 20, 2008.

  1. kierbabi09

    kierbabi09 Approved members

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    I'm doing pretty good. I'm pumping now actually. How is your son doing?
    Thanks, Merry Christmas to you too:)
     
  2. Alba37

    Alba37 Approved members

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    Gosh, I thought I'd replied here, but can't find it!

    Marc's had a right rough time of it recently. He's been feeling awful, and totally exhasted. He's having too many lows, but if we reduce the dose he's all highs and feels even worse! We are persevering with highs for a while to get his hypo awareness back.

    He had the bloods taken late Dec for the genetic tests. But I don't think they have started doing them yet. The Genetic Doc says it can take 6 months for results, and another doctor said a year plus! The Genetic doc, said she thinks he has MODY but not to be surprised with a negative result, as they can only test certain genes at present.

    It's put a bit of a spanner in the works as they won't consider him for a pump till they get his results back :(

    A x
     
  3. sofaraway

    sofaraway Approved members

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    It takes a while but if it's been sent to Exeter (where most are done) it shouldn't take a year, i think mine took about 5 months and my brother took a few months.

    It's a shame that they won't let him have a pump until the results are in. Hope he starts to feel better soon
    Have they done antibody and c-peptide tests before?
     
  4. Alba37

    Alba37 Approved members

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    Hi Nikki

    He had C-peptide done just after diagnosis in April 06. He then had C-pep and GAD done in Sep 08. I've not had the GAD results, but C-pep were 0.8 at diagnosis and 0.24 in Sep. Which the clinic said confirmed Type 1, but they went ahead with the genetic tests anyway.

    The genetic doctor said the genetic tests can take a while, as they only test one gene at a time, they start with the most likely, and if it's negative, go on to the next til they get a positive result or have tested all the genes.

    If your brother was tested after you, they would know what gene to test for first, I guess, and makes sense to why his took less time.

    How are you doing? Hope you're ok,

    A x
     
  5. Alba37

    Alba37 Approved members

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    Just realised my post didn't make sense! What was the result of your brothers test, was he tested before or after you? They told us if the genes are negitive they will hold DNA and test when they discover more genes and how to test for them in the future. The genetic doctor seemed to think he has a genetic type, the clinic on the other hand sometimes say he 'may' have and other times say he's definitely T1!?

    Are you on a pump Nikki?

    A x
     
  6. sofaraway

    sofaraway Approved members

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    My brother was tested after me. For both of us they knew exactly what gene to look at, and exactly which part of the gentic code to look at. As my mum and grandad's DNA had been analysed previous by that lab. So the test was alot quicker and cheaper actually.
    But it did still take a while to come back even so.

    One thing to consider is it is possible to have both MODY and type 1. Ok it's not very common but there are cases of it. Having MODY genes doesn't protect you from developing autoimmune type 1.

    I don't pump, I would like to but don't qualify on account of being MODY. I don't actually need one so haven't fought it. I do know of 1 person with MODY who has been able to get a pump, but most places just stick with the guidelines.

    Hope you get some answers soon.
     
  7. Alba37

    Alba37 Approved members

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    Hi Nikki

    We got back the first result of "no mutation found in the commonest cause of MODY - HNF1A"

    They are now testing HNF4A which is less common and unlikely I think. They told me birth weight is normally raised with this and low glucose can be seen in the first few months of life. Marc wasn't a big baby, and no one ever mentioned low glucose as far as I remember.

    Of course they knew what they were looking for with you and your brother, that makes sense! In Marc's case it's just a stab in the dark!

    Will let you know as when I hear more.

    Aileen x
     
  8. hopeful mom

    hopeful mom Approved members

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    help

    I have never heard of this form of diabetes before and how it came to light is we were just at Sick Kids for my 6 year olds check up and the doctor suggested we have Bretts DNA tested ! His Blood work is being sent to UK England and it should take about 3 months for us to get Bretts results?This is how we have just found out about this Monogenic diabetes ??? Brett was 6 months old when he was diagnosed with type 1 diabetes so he could of been misdiagnosed ??? This would be a miricle to our family if he could take medication for his pancreas??? A little over whelming I guess to hear all this and a little scared as well ! Any info you could share from your experience would be much appreciated! Sincerely Lorrie Roberts
     

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