Barbara “Barbie” Michelle Ewen

“When you hear hoofbeats, think of horses, not zebras.” This saying is often told to medical school students as they train to become doctors, advising them to focus their attention to common causes of disease rather than rare disease. But what happens when a disease is truly a zebra rather than a horse? This is the path my family and I were set on when my daughter, Barbie, was diagnosed with Multiple Sulfatase Deficiency (MSD) in 1984 at 7 years old. 

Being a zebra amongst horses can be a lonely, confusing, and scary journey, especially with an ultra-rare disease like MSD. Barbie was one of the first cases of MSD ever diagnosed in the United States, and we had to rely on resources from other rare diseases like Tay Sachs to guide Barbie’s care. My wife (Kathy) and I (John) did the best we could with the information and resources we had, but it was devastating to see our daughter lose her personality and skills as the effects of MSD took hold. Our active, smiling, and compassionate little girl lost the ability to walk by 8, which progressed to the loss of communication, sight, ability to sit upright, ability to eat, and most other skills. She needed many surgeries and was bedridden for much of her life. As a father, this was one of the most difficult aspects of the disease to grapple with — that the people who interacted with and helped care for our daughter never saw who she truly was, that MSD had taken that way. People always saw Barbie as a disabled person and never had the opportunity to see her when she blossomed. Our daughter had MSD, but that is not who she was. 

One of my greatest fears as Barbie did not meet developmental milestones was that we would never find the monster that was doing this to her. While genetic testing for MSD did not exist at the time of Barbie’s diagnosis, we later discovered that her condition was caused by a single amino acid change at position 279 in the SUMF1 gene on chromosome 3. It was hard to fathom that such a small change had such large, ravaging effects on our daughter and that this was the reason all our dreams for her future would remain unfulfilled. While facing this monster was heartbreaking, I made it my mission to know as much about MSD as possible and give other families the information and resources we wish we had for Barbie. When she was diagnosed, we were told that there was nothing we could do and there was no research being conducted to help us. It takes people like us to stand up and say, “No, this is not acceptable, and we are going to do something about it,” to make a change. We are thrilled that parent-led organizations like the United MSD Foundation (UMSDF) now exist to help families through their MSD journeys and eventually find a cure for this evil disease. 

Barbie had a life expectancy of 17 years old. When she met and surpassed this age, many people questioned why we wouldn’t put Barbie in a long-term care facility. We were told that we should “move on” with our lives. People assumed that caring for Barbie was a burden to our family. The truth is, Barbie was the light of our family, and we are all better people from her presence. Gentle to her core, she beat the odds and lived to 40 years old, surrounded by people who loved her. There is not a day that passes that we don’t miss her terribly. 

Barbie is an angel now, and the space she left can never be filled, but the fight against MSD continues. It is my hope that with generous funding and advancements in research (early planning for a gene therapy-based clinical trial for MSD has begun), I never have to see another child taken away by this disease. We can all live in a world where the monster that is MSD, thriving in the shadows, is dissipated by the flick of a light switch. Through the work of UMSDF, one day no other family will have to be afraid of that darkness. Children like Barbie can lead full, happy, and healthy lives.