Chad and Alicia Bohley’s reality was flipped upside down when their 3-year-old son, Jacob, was diagnosed with Mucopolysaccharidosis 1. Their journey started in November 2020 when a doctor brought up concerns about the shape and size of Jacobs's head. Jacob also showed evidence of delayed speech, as well as constant sickness and a limited range of motion due to his joints. What may have once been believed to be innocent problems or development delays was actually more. He was scheduled for further testing which later led to the official diagnosis.
Jacob was officially diagnosed with MPS1 on March 3rd. MPS1 (also known as Hurler’s Syndrome) is a rare genetic disease that affects many parts of the body and has no cure. The life expectancy of children with Hurler's Syndrome is 10 years old. While the Bohley family is absolutely devastated, they also feel incredibly grateful to have such amazing support. Alicia Bohley writes, “Reading the words terminal and life expectancy aren’t words that we should be reading or using in relation to my perfect baby. At the same time, we are relieved to have an answer as to why our boy has been so sick pretty much his whole life. We are extremely lucky to live where we live, as one of the top geneticists for this rare condition is at UNC and one of the top 3 hospitals to transplant at is Duke. We are within 40 mins of both. We are also lucky in the fact that we received this diagnosis so quickly. “
People with MPS 1 are deficient in the enzyme alpha-L-iduronidase, which results in the accumulation of sugar molecules (GAGs) on their bones, skin, tissues, and organs. Although there is no cure, there are two treatment options to help slow down the progression of the build-up. The treatment options are weekly infusions of a man-made version of the enzyme he is missing or a blood/marrow transplant. Neither will save his life, only possibly extend and help with a better quality of life. Jacob is currently in the pre-transplant stage at Duke and is hoping for a transplant in the coming weeks.
Jacob has been a trooper through it all. He is still the same happy, little boy who loves pizza and french fries! The Bohleys have spent countless hours since diagnosis at many specialist appointments and procedures. Within the last 3 weeks, he has been under anesthesia twice for a total of 9.5 hours and most recently had his tonsils and adenoids, umbilical hernia repair, and g-tube placed. The surgeries do not end there. Within his lifetime he will need to continue to see multiple specialists and likely need other surgeries. Some of those include carpal tunnel surgery, neck/spine surgery, trigger finger surgery, hip and knee surgeries (to name a few).
While their lives are forever changed, Alicia hopes to use Jacob’s story as a way to raise awareness. Many of the symptoms are individually normal in children and so rare that Mucopolysaccharidosis 1 is often misdiagnosed. Unfortunately, while some states do test for MPS1 through newborn screening at birth, North Carolina is not one of them. However, many children with MPS look-alike: coarse facial features, broad nose, large tongue, curling fingers, distended stomach, and corneal clouding to name a few. As Jacob's Journey continues, Alicia asks, “Please keep our family in your prayers and hug your babies a little tighter.”
If you are interested in donating funds to help The Bohley family, you can do so at: https://www.gofundme.com/f/jacobs-journey-with-mps1. You can also follow along at Jacob’s Journey with MPS1 on Facebook, where Alicia will be posting updates as well as documenting their journey.