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Might get test for tnd and pnd

Discussion in 'Parents of Children with Monogenic Diabetes' started by doratheexplora, Jun 20, 2010.

  1. doratheexplora

    doratheexplora Approved members

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    Going to have my son tested. Is the test ok or painful? What is involved?
    Think my son might have it because he had several symptoms: intrauterine growth retardation, feeding issues, failure to thrive, and developmental delays (autism---which improved remarkably after diabetes diagnosis). Also, had ketones in his urine months before dx but normal a1c. Also, didn't eat any solid foods until after dx at 2 1/2 (only breastmilk)...then starting eating afterward!

    What would it mean if we got a dx anyway? No more insulin?
     
  2. redcurls3

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    Hi, I was looking through some of your other posts and it looks like your son was dx at the age of 3. Is that right? If so, it is highly unlikely that he has the gene for TND or PND as they have only found this gene to be in children dx under the age of 12 months. It may be a possibility that he has MODY, but I am not as familiar with symptoms of that. If you go to the site for the University of Chicago study, you will see that they have several studies for children in all age groups. It wouldn't hurt to get him checked but I would probably call and talk to one of the doctors there to find out more about if he would qualify for the study. As for your question about the test hurting, if it's just a dna test, usually they just do a spit sample or cheek swab. However, if you do the testing through a lab, it will usually be a blood draw (what my son did). It does take a little longer to get results through a lab, but you will get results whether it is positive or negative. If you participate in a research study, you may not hear anything if he is negative (just what I've been told by other parents who have participated. I think it has something to do with legalities of sharing study information.)

    As for your other question about going off of insulin, that will be based on the particular gene and mutation if he does turn out positive for monogenic diabetes (either neonatal or MODY). Some forms of neonatal and MODY can go off of insulin and take a sulfonylurea pill (usually glyburide in the US) like my kids. The plus side to this is that we get much tighter blood sugar control because the pill simply allows their body to do what it is supposed to.

    Anyway, I hope that helps. And I hope that your son continues to do better. Feel free to PM me if you want to ask me more specific questions or want my number to give me a call.

    Here is the site for the U of Chicago study if you need it :

    http://www.neonataldiabetes.org
     
  3. doratheexplora

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    Thanks for the info.
    He was diagnosed at 2 1/2 but way before then, tested with ketones in his urine but normal a1c. I'm wondering if because he only breastfed (which is mostly fat and protein), this would have maintained lower bloodsugars so his a1c would not have been too high?

    Filling out the forms now to request test from insurance company. Was blood test out of the ordinary? or just like a typical bloodtest? Did it require tons of blood or is it ok for a child to have to undergo? Just don't want to put my poor little guy through too much more than he's gone through already.
     
  4. redcurls3

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    From what I remember, the blood test was just like something normal he would get anyway at an endo's office. Not sure about the breastfeeding thing. I wouldn't think that would make a difference. Andy was supplemented with formula since birth and he was in severe DKA at 18 weeks old. However, Katie was exclusively bf since birth and she started spiking bs above 200 at 10 days old when we started her on the glyburide. But she also kept going back down to normal numbers every day even before the medicine so not sure how long her body would have kept doing that without having the medicine and only breastfeeding. I know many other mothers in our group did exclusively breastfeed, but the age of presentation can vary widely, from 1 weeek to 6 months. I think the oldest one they've found as of right now is around 11 months old. However, I know that there are several different genes and many varieties of mutations and each one can present differently. Like I said, it doesn't hurt to get it checked out. At least you'll know one way or another. Good luck to you. Keep me updated.
     
  5. doratheexplora

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    Thanks!
    Just curious, how are symptoms noticed in children so young?
     
  6. redcurls3

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    Same symptoms as most others dx with Type 1. For my son, he actually had failure to thrive at birth. His symptoms were: 1) couldn't regulate his temp, 2) lost more than 10% of his body weight, 3) had trouble latching on to breast or even drinking from a bottle, 4) mottled skin (very thin, you could see all his veins and arteries like it was almost transparent). After 6 days and lots of tests, they sent him home and he "seemed" to do well for a few months. At 16 weeks old, he got a cold that just never got better. He ended up losing muscle control and couldn't hold his head up anymore. He had dropped from almost 13 pounds at 3 months to barely 10 pounds at his 4 month check up. This was, however, never acknowledged by the doctors since the 13 pound was only done by me at home and not documented on his records since it is not normal for peds to do a 3 month check up. The doctor told me at his 4 month check up that he had simply "not gained" since 2 months and I needed to feed him more. He was nursing every 2 hours and sometimes for 45 minutes at a time and had huge diapers (looked like he had just gotten out of the pool!). The day he went to the ER at 18 weeks, he was having trouble breathing and was in severe DKA with bs over 1000. The ER doc told me he probably would have died that night if we had not brought him in. It's a shame that all they had to do was a simple heel stick to find out he was diabetic, but the doctors just chalked it up to an overly-worried first-time mother and told me we would have to just let the virus run it's course. Thing is, they did check his bs at 4 days old and he was at 120 which is normal for an adult, but not a newborn who has barely eaten since birth. Normal for a newborn is in the 50's-80's. I only found that out when I saw some paperwork when he was first evaluated for his developmental delays at 2 years old.

    Katie was much easier. She showed all the same symptoms after birth, but after we were home. Her lowest bs in the first few days was 76. First bs at 1 hour old was 96 and second at 2 hours was 117. We knew right then that she was, but doctors kept hemming and hawing, maybe not, let's just wait it out. Finally after 8 days she started spiking over 200 and I made a call to the doctors at U of Chicago. Even though we didn't have the DNA test back, one of the doctors told us to get her started on glyburide. She was on glyburide at 10 days old and we got the DNA result back 2 weeks later that confirmed it. So far, she is developing on track and we hope that will continue since she never had to go through months of high blood sugars and DKA, insulin, etc, etc. Time will tell.
     
  7. doratheexplora

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    Very interesting. Thanks for the info. Alot of similarities between my son and yours, but I don't know how mine could have survived until 2 1/2 if he was, besides the fact that he barely ate anything! So, how different is it with the glyburide? Still have problems with bs? or they make their own?

    Why aren't infants with type I dx routinely screened for this? I know so many parents who's kids were dx very early but never have been told to have their kids tested. Makes no sense.
     
  8. redcurls3

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    It is very different on glyburide. In fact, we just had our endo visit on Wednesday. Andy's A1c was 5.5% and Katie's was 5.6%. While we do still have highs and lows, it's nothing compared to insulin. Since their bodies still produce insulin, the pill just allows the body to do what it is supposed to do. We have to increase their doses every once in a while when we start spotting trends in blood sugars increase, but I haven't seen anything under 60 in Andy in over a year and anything over 160 is practically unheard of now. Katie's numbers tend to run in the lower 100's so I don't freak out as much if she's over 130, but I try to keep her in a pretty tight range.
     
  9. doratheexplora

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    The insurance company just denied us for the test because he didn't get a dx by 6 months of age. I'm so mad!

    Just looked at his records from the hospital. Lowest bs was 74. More than once had readings of 134. Are you sure that normal is 50s-80s?
     
  10. redcurls3

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    No, I'm not sure. The problem with the question of "normal" for a baby is that there are not any studies (or at least none that I can find). Newborns are generally checked when they show signs of low bs or if the mother had gestational diabetes. The few articles I've found that even mention it say normal for newborn is actually between 50-70 but this is generally a guideline for fresh out of the womb. After they've nursed, I'm sure it would be higher. With Katie, at first they said (before she was born) we might be concerned if she's over 100 at all. But then, they changed it to "Don't be concerned unless it's over 200. Then when she was over 200 at 8 days old, they said well, don't be concerned unless she continues to be over 200 and doesn't come down at all. The problem was she kept coming down into the 100's. If I hadn't called Dr. Greeley at the U of Chicago, I wonder how sick the doctors would have let her get before they finally agreed with me that she had it. If I were you, I would call either Dr. Phillipson or Dr. Greeley at U of C and just tell them the situation. They are doing research on all ages. You may qualify for one of their other studies. It couldn't hurt.
     
  11. jjules

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    wow i couldve written that part myself. its exactly my sentiments. i worried all the way to emergency that i would be sent away as a neurotic parent. when they got my son off to ICU the registrar told me good thing i had taken him in as he was steps away from coma :(
     
  12. smcnair

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    PND at 18 months

    Although usually diagnosed before 6 months, I was diagnosed at 18 months with Type 1, but found out in January 2011 that I actually have PND. The results we received from the UK actually included an article of some study that had been done on a couple of families, and some of the children had been diagnosed up to 4 years old. If it wasn't for my son being diagnosed (at 5 months) last year, then I probably would have never known.
     
  13. redcurls3

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    I've never met anybody dx over 12 months but I remember at the conference last summer that one of the doctors mentioned that many of the INS genetic mutations do tend to be dx later, many older than 6 months of age, but I didn't know that it could go as long as 4 years old. It's good to know though. Even though you still need insulin, at least you know exactly what type you have because a lot of the diabetes research seems to be leaning more toward autoimmune types. I wonder though, would a PND with INS gene still qualify for some type of cell transplant? Something to ponder I guess. Very interesting. We learn something every day. Thanks for the information.
     
  14. Cookie Monster

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    It's amazing the complexity of monogenic diabetes. For the INS gene there have been quite a number of different mutations found and some of these result in very different ages at diagnosis. The R89C one mentioned by smcnair can be up to 4 years old, while a different INS mutation sent a child into DKA at 3 weeks old!:eek: A mother and daughter with yet another INS mutation were diagnosed at 13 and 10 years respectively!

    This page has info about 16 different mutations (about half way down the page). Sorry it's a bit technical but gives an idea of the complexity. And that's just one gene. So far there have been at least 13 different genes shown to cause forms of monogenic diabetes, there's a list of the 11 current MODY genes here (INS is MODY10), then there's the neonatal ones, KCNJ11 and ABCC8.

    You'll see from the dates of the references that a lot of this research is very recent, so while Christy is right that a lot of the research is focused on autoimmune diabetes, there is quite a bit of research on the rarer types, particularly from the group in Exeter, England.

    I think the emphasis on the early diagnosis is to catch the KCNJ11 and ABCC8 mutations because they can be treated with oral drugs, like Christy's children. So it's really important to catch them, and I think so far the eldest diagnosis for KCNJ11 has been 11 months.

    I think the thing to remember here is that it's a very new field. The scientists are only beginning to come to grips with it. Exciting stuff though.
     
  15. smcnair

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    Well we were told that the form we have is PND. . .and it was the INS gene. We were also told that the form we have can only be treated with insulin. I just read the page you linked to (MODY10) and there are cases noted there that were treated with diet.

    In the reference section of that page it states 'Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.'
     
  16. Cookie Monster

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    Yeah, that looks confusing doesn't it. What they mean is that INS mutations are a common cause of PND but not other 'normal' diabetes. As PND is very rare then INS mutations are a rare cause of diabetes. By childhood they mean children older than 1 year.

    In the paper they found 35 patients with INS mutations, 33 diagnosed at less than 6 months, 2 between 6 months and 1 year. Of those 6 had the R89C mutation so the answer to the other thread you started is that there probably are a number of diabetics with the same mutation but, like you until your son was born, are probably unaware. I hope you find some.
     
  17. MrsSM

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    I was just reading over this thread and wanted to let you know that the UK is currently testing my 64 year old father in laws DNA for TND KIR 6.2 mutation. He was not diagnosed with Type 1 until he was in his early 20's but both his son (my husband) and our daughter have TND so they think he also has it and just did not require insulin until he was diagnosed. I'll keep you all posted on the diagnosis.
     

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