Dec. 23, 2014
Posted by Barbara Hollister
Alena Galan is a happy 16-year old girl full of life and wise beyond her years. She can light up a room with her quick-witted charm and energetic personality. She loves to sing, dance, play guitar and violin, and like most teenagers, enjoys spending time with friends. Alena has a deep-rooted appreciation of life and cherishes every moment – all with good reason.
On January 24, 2002, Dr. Robert Marion, director of Children’s Evaluation & Research Center, Albert Einstein College of Medicine diagnosed Alena with mucopolysaccharidoses VI (MPS VI) or Maroteaux-Lamy syndrome, a rare inherited lysosomal storage disorder. Individuals with MPS VI do not produce the enzyme that carries all the impurities out of their body. This causes thickening of the bones, breathing difficulties, and ceases normal human growth and development. Symptoms gradually worsen over time, and individuals with MPS VI usually do not survive past 25-years old.
The news devastated Marcia Galan, who adopted three-year old Alena from a Russian orphanage just seven weeks earlier. At the time, Alena – who remarkably resembled Marcia – seemed to be healthy and happy. They immediately bonded as mother and daughter. Shortly after bringing Alena home to the U.S., a pediatrician who specializes in Russian adoptees observed several abnormalities, including a heart murmur, which led to further evaluations and the MPS VI diagnosis.
Marcia, who spared Alena from an uncertain future at the orphanage and gave her the promise of a loving home with a bright future, would now watch her little girl slowly deteriorate until her untimely death. Her world completely stopped – she felt alone and helpless with this long and emotionally-crippling death sentence given to her daughter.
Only about 1,100 people in the world are known to live with MPS VI. Although there is no cure for MPS diseases, the FDA did approve enzyme replacement therapy to manage problems caused by MPS. Alena is the first child to be treated with enzyme replacement therapy in the northeast and at seven-years old, she was given her first infusion.
Despite her own fear, Marcia cleverly transformed a terrifying event into a “fun” occasion with gifts to ease Alena’s anxiety over having the treatments. Within the first year, Alena grew an astounding five inches as a result of her infusions. She now must continue her treatments once a week, a minor hindrance compared to receiving the gift of life. Alena cherishes every day that she has and acknowledges she would not be here today without the enzyme treatments. “I know that I only have one life,” she says.
Through NORD, Alena has connected with other patients sharing the same diagnosis through NORD’s patient meeting program. For many patients, these meetings provide the first and sometimes only opportunity to meet each other and connect with experts.
For mother and daughter, each package of treatments received is a celebration of life. “Life is a special occasion,” says Alena. “Everyone thinks it’s fascinating how a little person like me doesn’t take life for granted and understands that every day is something you have to worship.”
Alena is passionate about singing, and attended the Institute for Music Arts (IMA) where she focused on her vocals and even co-wrote a song, “The Face of God.” She also auditioned for The X Factor and plans to continue singing and acting.
She hopes to be an inspiration to others who live with MPS and other rare disorders so they can have a brighter future. Alena explains, “A lot of people don’t have a medicine like I do. I want to be a doctor so that I can help them to lead a better life. I want to make a change in people’s lives; when I assist them, it makes them happy and that makes me feel better.”
Copyright © 2014 Levi Gershkowitz,
Living in the Light