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R89C mutation of INS gene

Discussion in 'Parents of Children with Monogenic Diabetes' started by smcnair, May 15, 2011.

  1. smcnair

    smcnair Approved members

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    Just wondering if there are any members of the forum that also have this particular mutation and if so, when was it diagnosed, and was there any developmental problems, etc.
     
  2. Brenda

    Brenda Junior Member

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    I am not familiar with this particular form of neonatal diabetes (just the KCNJ11 type). If you are willling, can you share your story or provide more details? This might be helpful for others. I don't think it's relevant for our daughter.
     
  3. smcnair

    smcnair Approved members

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    Our son was born 5 weeks early and at birth his sugar was about 16. Within a couple of days it had come down to about 6. A week after he was born we were told that he had a hole in his heart. This was quite a shock, as we hadn't been told there was anything wrong prior to this (someone 'forgot' to tell us he was born with an heart murmur).

    He had open heart surgery at almost 5 months (August 2010) to correct this, and we found out when he came out of surgery that he was also a diabetic. He had no prior symptoms. Prior to surgery his surgery was about 28, and then coming out of surgery I think it was about 32. We were told that he would be in ICU for a day, 2 max, and then moved to a ward. He was in ICU for 8 nights, a very stressful time for all of us.

    I was diagnosed with Type 1 when I was 18 months old. The doctors told us that Thomas probably had Type 1 as well but they would do some tests to find out for sure. A couple of days later his endocrine doctor asked me about monogenic diabetes and if I had ever been tested for it. I told her I had never heard of it. All of our son's tests for Type 1 came back negative. I was also tested, and 1 test came back positive (but was told that it would have anyways because I have been taking insulin for so long). They took blood from me and my husband to be sent with our son's to be tested for monogenic. They had to get approval, etc, and it was October before it was sent, and in January of this year we found out that both our son and I have the R89C mutation of the INS gene. We had been hoping for the previous 5 months that it would be a form that could be treated with a pill, but were told that it couldn't be.

    I have read a lot of info on line but havn't found too much about this mutation, but was also told it wasn't so common as the some of the others. I have noticed that some of the forms are associated with developmental problems, etc, and asked his endocrine doctor about it at his appt last week. She said that in her experience it is usually only the forms that are treated with pills that tend to have developmental delays, epilepsy, etc., but she didn't know a whole lot about our particular gene mutation.

    Our son is having problems with eating solids (he will eat purees), and tends to gag on solid food. He is now 14 months old. We have tried different foods, and they all affect him the same. Up til he was about 11 months old, he would gag and puke up anything that was in his stomach (usually whatever food he had just eaten and any milk he may have had an hour or two prior to that). Now it's usually just gagging, and sometimes puking a little bit. I was wondering is it might be related to the diabetes (although I had no problems as such, but I was 18 months old at diagnosis). We are waiting to get an appt with a feeding clinic to observe his eating but were told there is a 3 month waiting time.
     
  4. Judith

    Judith Neonatal Diabetes Registry

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    Insulin gene mutation & feeding difficulties

    My son, now an adult, has the same insulin gene mutation as your son - in fact, was the first in the world to be found with this particular anomaly (June 2007). He was born at term and diagnosed with diabetes at age 8 weeks. There is no family history of diabetes. His growth and development were normal/advanced. (Eg, he walked at age 9 months, weighed 30 lbs at 1 year of age!) I think it more likely that your son's feeding problems are related to his open heart surgery rather than to the diabetes. There are numerous references in the medical literature re: this association. I hope you will be able to get appropriate help soon.

    Judith
     
    Last edited: May 21, 2011
  5. Judith

    Judith Neonatal Diabetes Registry

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  6. smcnair

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    Thanks Judith.

    We think it may be more related to the heart surgery too, and have also questioned whether having a breathing tube in his throat for 8 days (instead of a few hours as per normal) may have affected his throat in some way and they keep saying no it wouldn't. Hopefully we'll find out something when he gets an appt with the feeding clinic.

    He is doing really well in other areas. He's not walking on his own yet but probably could as he will take a few steps. Does your son have children, and if so, do any of them have this gene mutation? We were at a genetics clinic to discuss this a couple of months ago, and were told that there is a 50% chance that it will be passed on to any children we have.
     
  7. Judith

    Judith Neonatal Diabetes Registry

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    Great that your baby is doing so well. My son does not have children yet; we've also been told the risk for any of his offspring is 50%.

    Re: open heart surgery and feeding problems, see

    Feeding difficulty in newborns following congenital heart surgery.


    Feeding difficulties are not uncommon following surgery for the correction of congenital heart defects, especially in the neonate. The most important risk factors appear to be an increased RACHS score and prolonged postoperative intubation. (Emphasis mine.)

    http://www.ncbi.nlm.nih.gov/pubmed/18377449
     
  8. Judith

    Judith Neonatal Diabetes Registry

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