At seven years old, Nina has never met a stranger – each person she meets is immediately her friend. Nina loves to paint, to create and would do arts and crafts all day if her parents would let her. “Nina simply has a way of making others feel good,” her mom Casey said.
After a perfect pregnancy, Nina became the perfect baby. Prenatal and postnatal screening – limited in their home state – came back as normal. Nina ate and slept well and met her developmental milestones on time. Around her first birthday, Nina began experiencing nosebleeds and bruising. Her pediatrician told her first-time parents that it was all normal – babies were clumsy and bruised easily. “As a new mom, maybe I was over worried,” Casey said. “But there was a lot of bruising, and other relatives started to notice too. We took Nina back for another look.” To help appease the worried parents, a second pediatrician ordered some lab testing. That evening, Casey received a call from the doctor’s office. “It was late on a Thursday evening, and it’s a moment I’ll never forget. I know it had to be serious if they were calling me after hours,” Casey recalled. The pediatrician suspected that Nina had a life-threatening blood clotting disorder and needed to go to a children’s hospital immediately. The parents put her in the car and drove to the nearest children’s hospital to find out more about this mysterious clotting disorder. It was a three-hour drive and felt like forever to Nina’s parents, but it would take more than a year before they received the accurate diagnosis of Arginase 1 Deficiency (ARG1-D).
Because of Nina’s bruising and nosebleeds, she was referred to a hemophilia specialist. Testing revealed that she was Vitamin K deficient, though no one was sure the reason why. She began taking Vitamin K supplements and began having drinks and snacks with added protein and vitamins. When further testing showed elevated Arginine levels, Nina was finally sent for genetic testing. “We had no idea why her Vitamin K was so low, and Arginine was so high,” said Casey. “We had tried to help by giving her these additional vitamins and protein, and now I worry that I made things worse for her. No one knew what the right thing to do was.”
The first geneticist the family saw began to suspect ARG1-D but was not prepared to diagnose it officially until there was conclusive evidence. He explained that ARG1-D was a rare and progressive disease with no approved treatments or cure. Serious mobility issues usually show up around three years of age. “Nina was two and a half at the time and we didn’t believe the doctor,” Casey said. “She was walking in front of us, and just looked so healthy.” However, as months passed, Nina began walking on her toes – a classic symptom of ARG1-D.
Just before her third birthday, Nina’s diagnosis of ARG1-D was genetically confirmed. Casey said, “It was overwhelming. I didn’t know what is going to happen to my child. We began her ‘new normal’ immediately which included several changes to her diet, doctor appointments and regular lab testing.” Casey continued, “It was a terrible time for us as a family. No one could tell us definitively what to expect or what Nina’s future looked like. I left my full-time job and planned my life around managing this disease.”
During these early years for Nina’s family there was a lot to learn about living with ARG1-D. The National Organization of Rare Disorders (NORD) and the Urea Cycle Disorder Foundation provided details about ARG1-D which were informative, but neither group had a lot of specifics. Since then, the Arginase 1 Deficiency Foundation was established for families looking for information on managing the disease and to connect with other families with similar journeys.
Today, Casey reports that despite some scary setbacks along that way, today Nina is thriving. “There was a point when she lost strength in the legs and could only crawl,” said Casey. “But today she’s riding her bike and we cherish this moment. We know there are challenges ahead for us. Her muscles are so tight and she may need surgery to correct her dropped foot.” Casey and her family have learned a lot through their journey, and though it is not the life they imagined when Nina was born, they have adapted. Nina drinks her “special juice” daily and has a few favorite foods such as gluten-free pizza with olives. She is also delighted to be back in school, after being isolated at home because of Covid.
While Nina faces challenges ahead related to ARG1-D, her mom Casey remains hopeful for her future. “I want the same things that any mom wants for her child,” said Casey. “I want to her to grow up with no worries, no more shots and no more missing out on activities because of doctor appointments, physical therapy and occupational therapy. I want her to walk, to drive and live an independent adult life.”
For newly diagnosed families, Casey shares some advice, “For me there were days I wanted to give up, it is so hard knowing that my child has a progressive disease. But I found my way, and I have hope for the future. To families new to the ARG1-D community you too will find a way back to joy. There is light at the end of the tunnel – the light of the children and families like ours that will be here for you.”