Wendy and Kaylee are afflicted muccopolysaccharidosis (MPS type 1). When Wendy was born, we knew right away something wasn’t right. I had two children previously who met all their major missing milestones but Wendy was having developmental issues and was a lot sicker than my other two children. After Kaylee was born, we met with a doctor who suspected Wendy might have a lysosomal storage disorder. We had been to so many doctors that despite this terrible diagnosis it was a relief for someone to finally see what I saw in Wendy — a very sick little girl!
We were sent to a geneticist and tested for muccopolysaccharidosis. MPS 1 results from the absence of, or insignificant amount of, the enzyme alpha-L-iduronidase. The rare condition is also known as Hurler syndrome and affects how a person breaks down long chains of sugar molecules inside cells. Without the enzyme alpha-L-iduronidase, these sugar molecules start to build up, damaging vital organs. Symptoms can range from mild to severe.
We decided that Wendy would need to undergo a stem cell transplant. Kaylee was tested and was a perfect match. Unfortunately, we later learned that Kaylee also has MPS1/Hurler syndrome and needed the transplant as well. That was four years ago and both girls are holding strong. Wendy has many developmental delays and battles with graft-versus-host disease. Kaylee has poor vision and thyroid damage from the chemotherapy treatment.
My girls are fighters! I am truly blessed to be their mother.