We are married doctors from India – a country of great diversity! Our happiness knew no bounds when we were blessed with a twin girl and boy about three and half years into our marriage.
It was the ‘doctor’s instinct’ in me that caught a minute enlargement of both breasts of my baby girl. We lingered on this for a few days, hoping that it would resolve itself, but then it didn’t. So l thought we would get an ultrasound of the abdomen done. That was the day life changed forever.
The scans revealed my baby girl had a damaged liver. A bolt from the blue! Then came a flurry of tests, hospital visits and biopsies and my girl was finally diagnosed with HT-1.
As a father, I searched for options for my kid. Nothing was available in my country. I thought that I could get a liver transplant done for her. In the meantime, our doctor asked to get our son screened. They say ‘lightning never strikes twice at the same place’, but for us, it did.
Desperate attempts on our part brought us to some people who helped us. Although the diet was not available in India, a company volunteered to start manufacturing it.
Then, there was an angel in the form of ‘Orphadin’* that God sent. They gave us the NTBC/nitisinone on compassionate grounds free of cost. In our country, almost no one can afford the medicine.
Both my kids since then have been fine on nitisinone and through managing their diets. It means a battery of tests at regular intervals and periods of anxiety and prayer, but they are doing okay and going to school.
My son likes to wrestle with me and my daughter likes to be on her phone. What she also likes is food, and it is often difficult and heartbreaking when she asks for an ice cream that her friend is eating. The ‘low protein’ stuff is not available here, but we are trying to get it made through some companies.
Our wish is that our kids live a normal healthy life, even if that means shortening mine. But I have learnt to take a day at a time and also not to take time for granted…..
Dr Aditya Kumar Gupta
(*) Swedish Orphan Biovitrum AB is an international specialty biopharmaceutical company dedicated to rare diseases, based in Stockholm, Sweden.