City doc managing first case of neonatal diabetes in region

Nagpur: When he was just nine days old, Lakshya Soni from Chhindwara developed fever and a severe eye infection. For the first few months of his life, his mother remembers him always being unwell. After some complications took the little boy to an intensive care unit, it was discovered his blood sugar levels had shot up to 577 mg/dL. It was later discovered the kid is having extremely rare condition called neonatal diabetes, which means he was born with it.
His was the first detected case of neonatal diabetes from Central India. He was six weeks old when the disease was detected. Initially, doctors treated him using insulin shots, despite them being confused about dosage. After he started coming to city-based endocrinologist Dr Sharad Pendsey, he has been shifted on to tablets. His case was recently presented at the annual conference of Diabetic Association of India, Nagpur chapter. It will also be chronicled in some renowned medical journals.
“He was five months old when he started coming to us. The first step was to ascertain the condition for which we sent his blood samples to Chennai and London for genetic testing. This test can only be performed in special genetic laboratories. Reports from both laboratories said that Lakshya had a mutation in a gene called ABCC8,” informed Dr Pendsey.
It was very tricky to shift the kid on to medicines, as the tablet available in the smallest dose that they knew was 5mg which would be too high for such a young kid. After much searching, they found one as small as 1.5mg. The tablet is broken into very small parts to be given to him.
Three months of treatment later, Lakshya’s parents Anil and Asha are happy their child doesn’t fall ill too often. They travel to Nagpur from their native village of Karasiya in Chhindwara every few days. Every day, they are required to conduct blood and urine tests and monitor the Lakshya’s sugar levels multiple times. Anil, who used to work as a landscapist in Nashik, has now left his job and shifted back to the village too. Diabetes Research Education and Management (DREAM) Trust, an NGO run by Dr Pendsey, is also supporting the couple financially and by providing the much-needed diabetes education.
“In the beginning, I was very scared as I could not even use the insulin injections or machines. I have learnt it with the help of some doctors at our local PHC and some counsellors from the trust. We also report Lakshya’s test results to the team everyday,” said a grateful Asha.
NOT VERY SUGARY
NEONATAL DIABETES
* Caused by gene mutation that affects the production of insulin
* So rare that it happens in only one in 100,000 to 500,000 live births
* Diagnosed within six months of birth, can be mistaken for type 1 diabetes
* Can either be permanent or transient
* Most kids with neonatal diabetes are stillborns, others have low birth weight
SYMPTOMS
* Frequent urination
* Dehydration
* Sticky consistency of urine
* In Lakshya’s case, it was not just these symptoms but also falling ill frequently including a severe eye infection that went on for months
* Diagnosis calls for a special molecular genetic testing to check the KCNJ11 and ABCC8 genes for mutations
TREATMENT
* Most neaonatal diabetics can be treated with a tablet called Glibenclamide instead of insulin
* Confirming the diagnosis by genetic testing is important before the treatment can be started
POSSIBLE LONG-TERM DAMAGE
* Inability to gain weight, weak muscles and delayed growth
* Possibility of having developmental disorders like learning disability