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Mommy of newly diagnosed baby @ 7.5 wks

Discussion in 'Parents of Children with Monogenic Diabetes' started by MrsSM, Mar 27, 2011.

  1. MrsSM

    MrsSM Approved members

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    Hi!!
    I'm so happy to have found this website. My DD was just diagnosed at 7.5 wks old. Probably started showing symptoms at 5-6 wks but sadly we missed them until severe DKA occurred. She was gaining weight perfectly fine so we thought nothing of the really wet diapers and frequent nursing. First baby so we thought that was normal. All is well now, just waiting on DNA results to find out if she has the KIR 6.2 mutation. Crossing our fingers for no more insulin!! My husband has also been insulin dependent for 34 yrs. He was diagnosed at 6 months and his dad was diagnosed at 21 yrs with Type 1. Hubby's DNA has gone for testing also. How do you all cope with the constant pricking and needles you have to give your babies? My DD has been so brave and she barely even cries anymore when she gets them. She is 10.2 wks old now!!

    Thx
    Steph
     
  2. Flutterby

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    So sorry you are having to deal with diabetes in such a little one.

    There are several people here who have children, diagnosed very young, who do have neonatal monogenic diabetes. I hope that this is what your little one has as it'll be much easier for all of you.

    Do they know how long it'll take to get the testing back?

    Oh, and Welcome, glad you found this board, it definitely is a wealth of information.
     
  3. Judith

    Judith Neonatal Diabetes Registry

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    Infant with diabetes

    Hi Steph

    Sorry you've "joined the club" but glad you found this site. My son, now 25 years of age, was diagnosed at age 8 weeks. Our stories sound very similar, though there was no family history of diabetes here. My son has monogenic, but not Kir6.2. His is a very unusual mutation of the insulin gene. Unfortunately, it does not respond to the type 2 pills, so he must still take shots. I hope your daughter and your husband can both go to pills rather than injections. Our endo has had 2 parent/child pairs in his practice who've been able to do so. You may want to read about one of them here: http://tinyurl.com/46zavad

    Your daughter will very quickly get used to all the pokes. If she's able to transition to pills, she won't need all those painful things very often. Please feel free to email me at JudithCWD@gmail.com I do have some tips to offer re: dealing with an infant with diabetes.

    Judith
     
  4. Cookie Monster

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    Hi Steph,

    I'm sure you've ploughed through the internet looking for information but here are a couple of links just in case you haven't found them:

    This blog is by a mother of two children with Kir6.2 mutations.

    This site is from the group in England that discovered the Kir6.2 mutations that can cause neonatal diabetes and worked out that affected children could respond to oral sulphonylurea drugs.

    There are a number of genes that, when mutated, can cause neonatal diabetes. Not all types of neonatal diabetes will respond to the oral drugs. But even if that is the case and your daughter remains on insulin there is every reason to be positive about her future.

    My son has been diabetic since birth. He will turn 3 in a couple of weeks and is a bright, happy child who, other than the pump hanging from his belt, seems like any other young child.

    Please just ask any questions you may have, no matter how silly. There will be someone on here who has been through it.
     
  5. mrcool

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    Hi,

    I'm hoping that it turns out that your baby does have that gene. My son was dx'd at 7 months old, but they still did the testing. I remember waiting so anxiously for the results. For us they were negative, but I was glad the testing was done anyway.

    For me the hardest was poking the tiny fingers and toes so many times a day, especially at nighttime. But the kids get used to it so quickly, my son wasn't waking up for the pokes after the first week. At this young age, it's harder for us, the parents. :)
     
  6. MrsSM

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    still waiting :(

    we were at sick kids today for clinic, hoping to have results back but nothing until april 18th. fingers crossed. had a really up and down day yesterday and our first low today...yikes. thanks for all the links. very much appreciated :)
     
  7. MrsSM

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    The results are in!!!!

    DNA results are in and she has the genetic mutation. Going off insulin next week and Daddy too!!! This is the best day for our family. Daddy has been on insulin his ENTIRE life...34 years and now he gets to stop. What an amazing day it will be when Daddy and Daughter get to take their last shot together :)
    :):):):)
     
  8. emm142

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    I can't imagine how relieved and happy you must be about this! (And I definitely can't imagine going off insulin after 34 years! Amazing!) I hope the transition to pills goes really well for your family.
     
  9. Nancy in VA

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    Congrats on the diagnosis - I am not surprised with how young she was.

    Don't be surprised if your husband has some mourning to go through. Our Endo works with a few patients who have the monogenic neonatal diabetes in partnership with U of Chicago. She said her 18 year old patient who had been dependent on insulin his whole life was very angry with the transition away from shots. It has become part of who they are and they are losing that part of themselves, even though its for the better.

    We have friends with a son with it - he had been on shots for his 6 years of life and right before he went on a pump, they found out he didn't need insulin and he takes the pills now. They still need to monitor for some lows during activity and adjust his dosage from time to time as he grows, but its so much better than the insulin injections.
     
  10. Amy C.

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    Wow, this is incredible news and life changing -- especially for your husband!!
     
  11. NomadIvy

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    What awesome news!!!
     
  12. Cookie Monster

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    Great News

    That's good to hear. Quite a journey for you recently!

    Have a read of Christy's blog that I linked in my previous reply. I contacted her quite a while back and she was really good about answering questions. I don't want to speak for her but I'm sure she'd be able to answer any questions.
     
  13. MrsSM

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    I did read Christy's blog but I can't find any way to contact her through that page??
     
  14. Flutterby

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    Wow, thats great!

    Keep us updated on how both dad and daughter are doing.. and the results for grandpa too!
     
  15. Lynnieg123

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    That is amazing. Your husband won't know what to do with his freedom from insulin. It's a whole new world!!!!
     
  16. Mary Cook

    Mary Cook New Member

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    Kir6.2 mutation diagnosed

    Great news, so happy for you all. My grandson has Kir6.2 mutation K170R. He was diagnosed as type 1 at 8 months old. After testing a year later, he was successfully switched from his pump to glibenclamide. The team in England who discovered this mutation want all new-borns tested as standard. If it's caught really early then it prevents developmental problems for those children with specific Kir6.2 mutations.
    I have contact with a lady who was switched at 54 years old, so fingers crossed for grandad.
     
  17. MrsSM

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    I think it should definitely be standard to test all newborns especially those from a strong family history...I wish someone would have tested McKaela when she was born :)
     
  18. kgerrick

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    I just read your post from a few months back. That is just so amazing that your daughter and your husband are able to be off insulin!! Especially your husband, how are they doing now? Hope all is very well!:)
     
  19. MrsSM

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    So far so good. My husband is having some trouble with his digestive system but other than that he's feeling great. Thanks for asking :)
     

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