By Marilyn Blau as told to Karen Dolins
Cindy was born on June 16, 1959 to Marilyn and Seymour Blau of Petaluma, California. The Blau's had already experienced MSUD with their son Gary who was born in 1955. When he became ill he was misdiagnosed with everything from a pituitary disease to childhood retardation. During his last hospitalization, an intern, Dr. Sheldon Miller, noticed a maple syrup odor on him. Remembering a medical school lecture, he contacted New York Hospital (NYU) and it was determined that Gary had MSUD. Sadly, nothing could be done for him at that time and he died at 21 months of age. An autopsy confirmed MSUD as the cause.
When Cindy was born, her doctor sent a blood sample to NYU. It tested positive for MSUD, and Cindy was flown to New York where researchers were making progress in understanding the disease. She lived at Bellevue Hospital, associated with NYU, for 4 1/2 years under a federal grant. Her doctors, Emmet Holt, Selma Snyderman and Joseph Dancis, developed the diet which kept her alive.
At that time, little was known about managing infections and every illness was life-threatening. The Blau's recall being called time after time to be told that they weren't sure Cindy would make it. But she did. The family moved from California to New York to be with her, living first in Brooklyn and then in Long Island. Still, they were told that she wouldn't live past 10 years of age.
When I was born, my mother and father were told that I had Maple Syrup Urine Disease and I spent most of my childhood in New York Bellevue Hospital. When I grew up, I was on a special diet. Right now I have a very good job. I work at night Monday through Thursday 5:00PM – 10:45PM. I enjoy my night job. I have Fridays and the weekend off and I also have a very good boyfriend. I am going to close for now.
Cindy now lives independently, with help from Creative Living, a non-profit organization which provides housing and assistance for physically disabled adults. Nurses come twice a day to monitor her diet and her health, and take her to doctor's appointments. She has a job which she obtained through the Association for Retarded Citizens. She is covered for her medical care and formula through Medicaid and Social Security. She has a long time boyfriend.
"I'm just glad that things turned out so well for Cindy" Marilyn says. She remembers the early years, trying to care for Cindy along with her brother and sister at a time when there was little information about the disease and certainly no support group.
Cindy's diet remains limited. For a long time, she lived on French fries and applesauce. She loves her low protein foods, though, and her weight has significantly outgrown her short stature. Now she struggles with issues familiar to many her age. Fifty years ago the Blau's couldn't imagine that they would see their daughter live to this age and enjoy a life with companionship, independence, and productive work. "I couldn't ask for anything more," says Marilyn.