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CanadianMom
04-26-2007, 12:54 PM
Today is my first post and I hope my son's story will help some of you. My son was diagnosed with neonatal diabetes at 10 weeks of age. We brought him to the hospital after two weeks of constant crying when he suddenly presented with what looked like muscle spasms in his arms and legs. We were told these twitches were clonic seizures and he had an MRI and a CT scan done - both of which came back with puzzling results. In fact, no one seems to know, (to this day!) what his imaging means because no one in Toronto or anywhere else in the world (his results were sent to experts as far away as The Netherlands) has ever seen anything like it. Regardless, his blood glucose measured at 29 mmol/L so he was treated with insulin and his seizures abated with medication. The endocrinology team sent my son's DNA to a specialized lab in England to check for a genetic mutation that could explain his symptoms and it came back positive. Now, my son IS COMPLETELY OFF INSULIN and takes a tablet of sulphonylurea once in the morning and once at night and his blood sugar is controlled better than ever. He is seven months old and he has not had a seizure since he left the hospital at two and a half months, (he is still on a low dose of medication for the seizure activity that is still showing up on his EEG). The following website provides information for ANY PARENT WHOSE CHILD WAS DIAGNOSED WITH DIABETES WITHIN THE FIRST SIX MONTHS OF LIFE. The DNA test is covered by research grants and it could change your lives. My husband has the identical genetic mutation and since my son was diagnosed my husband will now, after 25 years of insulin use, have the chance to treat his diabetes with oral medication, too. We are keeping our fingers crossed...he starts the transition on Monday. Here is the website with information on: http://www.projects.ex.ac.uk/diabetesgenes/.

rmccully2000
04-26-2007, 01:47 PM
WOW!! That is so uplifting to hear. We all dream of the day that we can trash the insulin vials :) and it's great when that dream becomes a reality for someone!! My son was diagnosed at 5 but I was wondering, what age was your husband diagnosed? Was he an infant also or did he present with symptoms later but still had the kir 6 mutation?

Thanks,
Becky, Mom to Mason, 7 Dexcom

Hollyb
04-26-2007, 02:00 PM
Thanks for posting - that's an amazing story. Thank goodness they have discovered this!

CanadianMom
04-26-2007, 02:15 PM
Becky,

My husband was also diagnosed at 10 weeks of age...36 years ago! It was a landmark case in Montreal back then and it certainly answers a lot of questions for us now. His diabetes was transient and it returned at age 11, (certain genotypes of the Kir6.2 mutation are transient). There is a lot of exciting research going into Type 1 at the moment, too, which you may already be aware of. In particular, Dr. Hans Michael Dosch is making headlines here in Canada, at Sick Kids in Toronto. Best of luck to you and your family, I have great faith that something is going to happen soon.

Jeff
04-26-2007, 02:36 PM
Any child who was diagnosed in their first year of life should be screened for Kir6.2 Mutations. This mutation causes an extremely rare form of diabetes that can be treated with oral medication.

See:
Switching from Insulin to Oral Sulfonylureas in Patients with Diabetes Due to Kir6.2 Mutations
http://content.nejm.org/cgi/content/abstract/355/5/467