Here's the important bit. Scroll down to the bit at the bottom where it says instead of insulin they take pills twice a day. It's why it needs to be ruled out as its so much easier to manage:
In the last two years, however, a team led by researcher Andrew Hattersley, of Peninsula University, Exeter, UK, has begun to study specific genes in patients diagnosed with diabetes before the age of six monthsâ??about one-tenth of a percent (1 in 1,000) of all type 1 diabetics. Nearly half of these patients, about one out of 200,000 newborns, turn out to have a mutation in one of two critical genes that work together to form a channel that regulates the flow of potassium ions in and out of the insulin-producing beta cell.
In the normal beta call, glucose metabolism results in increased levels of ATP, a molecule that cells use to store energy. The increase in ATP causes the potassium channel to close. After it closes, potassium ions accumulate within the cell. When they reach a certain level, they trigger the opening of calcium channels. Calcium ions flow in and the cell responds by secreting insulin.
Mutations, such as Lilly's, that affect the potassium channel, make it less sensitive to the build-up of ATP. The channel remains open, allowing potassium ions to flow in and out rather than accumulate. As a result, insulin secretion is drastically reducedâ??in Lillyâ??s case, to undetectable levels, even though she still had the normal number of insulin-producing cells
Drugs of the sulfonylurea class, developed decades ago to enhance insulin secretion in patients with type 2 diabetesâ??usually seen in adultsâ??can close this ATP-dependent potassium channel.
A study by Hattersley and colleagues, published August 3, 2006, in the New England Journal of Medicine, showed that in 90 percent of patients with neonatal diabetes caused by mutations in one part of the potassium channel, high doses of sulfonylurea could restore normal insulin secretion. The only side effect was mild, short-term diarrhea in about ten percent of patients.
A second study, published in the same journal by a group from France and Houston, found that five out of nine patients with a mutation in a second gene that affects the same potassium channel could also be successfully treated with a sulfonylurea drug, allowing those patients to stop their insulin injections.
In short: Lilly's mutation prevents the cells that make it from secreting insulin. The sulfonylurea drugs correct that defect, and in Lilly's case empower her own cells to do what they are supposed to do.
Precise genetic diagnosis and targeted medication doesn't cure the disease but it vastly simplifies disease management and improves long-term prognosis. Patients still need to monitor blood glucose, although much less often. Instead of frequent insulin injections, they take pills twice a day.
"As long as they take their pills, it's like trading a severe case of Type 1 diabetes for mild case of Type 2," said Philipson, "a trade anyone would make. It's comparable to swapping influenza for the sniffles."