When Shamita and Raj Sinha (names changed) were expecting their first child, they were full of enthusiasm. But only 30 weeks in pregnancy, things took an unexpected turn.

Shamita, who had gestational diabetes (diabetes during pregnancy), had to undergo emergency distribution due to a complexity. His child was born in 30 weeks ago and weighs only 1.1 kg.

The child struggled to breathe and was admitted to Medicover Hospital, Navi Mumbai at the newborn intensive care unit (NICU). However, during surveillance, doctors found that the newborn had high blood sugar levels of 300 mg per decillitra consecutively, which was usually contrary to the level of low blood sugar seen in infants of diabetic mothers.

Unfortunately, despite being given insulin shots, the sugar level in the child remained uncontrolled.

After doubting genetic diabetes, doctors sent blood samples of a newborn to the Exeter Medical School in the UK, only to find out that the child had a mutation in genes called KCNJ11 and ABCC8, which controls how insulin is released in the body.

“Permission to know the exact cause allows us to switch to an oral drug from insulin injections called glibenclamide. This drug works well in infants with some gene mutations, which helps their body to produce insulin naturally,” a advisor to the Medicovar said by the Rachna.

The drug changed painful insulin injections with a simple blood test. Even parents were trained in managing the child’s genetic diabetes. After 25 days, the child was quite healthy to go home.

What is newborn diabetes?

Newborn diabetes is a rare type of diabetes that appears in newborns, usually before the age of six months. This is not due to diet or lifestyle. Instead, it is mostly caused by a mistake in single genes – doctors call it monoogenic diabetes.

There are two main types:

Transient newborn diabetes: This type goes away automatically after a few months. But it can return to life later, often during adolescence or during early adulthood.

Permanent newborn diabetes: This type remains for life and requires long -term treatment.

Genetic testing helps doctors to know what type of child has and how to treat it effectively.

Why does it matter to pregnant mothers with diabetes

If a pregnant mother has diabetes, whether it is pregnant during pregnancy, or pre -existing diabetes, the child is more likely to develop complications.

A rare but severe complexity is newborn diabetes. If diagnosed quickly and correctly through genetic testing, many children can avoid daily insulin shots and get better treatment options like oral medicine.

“Genetic test is not only helpful, it can be life -changing,” Dr. Keshwani said. “It allows us to treat the child properly and also helps the parents to prepare for the future.”

In most cases of newborn diabetes, the problem lies in how insulin is made or released. Jeans like KCNJ11 and ABCC8 play a major role in this process. If these genes are defective, the child’s pancreas cannot release insulin in the way that can cause high blood sugar.

But here is a twist – if doctors know which genes are affected, they can choose the right treatment. In many cases, children with these mutations do not require insulin. A simple tablet can help their body to make insulin in itself.

“By behaving properly, there is a big difference in the child’s long -term health,” Dr. Tanmesh Kumar Sahu, Advisor Neonateologist and NICU in -charge, Medicover Hospital said. “It also improves brain development and makes life easier for parents,” he said.

Why genetic testing is not always done

Despite its importance, genetic testing is not always done in India. One reason is the cost. While some international laboratories offer free testing (like one in this case), the cost of shipping and sample collection may be a barrier.

Another reason is that all doctors are immediately considered to be temporary in newborns, especially since all doctors do not doubt newborn diabetes.

Dr. Sahu said, “Many cases are remembered because hyperglycemia (high sugar) does not look as dangerous as low sugar in infants.”

In addition, there is not enough awareness to send samples or when testing is required.

Not all infants require genetic testing. But if a newborn has high blood sugar that does not improve within the first week, even after treatment, doctors should consider testing.

Dr. Keshwani said, “Genetic tests should be done when regular care does not work and there is a strong doubt. It is not about testing everyone, but is about to test the right babies at the right time.”

Why genetic test matters

Early diagnosis, especially through genetic testing, may have a difference between life and death. For parents with diabetes or complications during pregnancy, understanding these risks and acting early can lead to healthy results.

If a child has very high blood sugar after birth and does not improve with regular care, it can be caused by a genetic condition.

Genetic testing may identify the exact cause to help with a tailor treatment.

As – such as genetic testing becomes more available, it can help many more infants – especially people born for diabetics – live in healthy, happy life.