Jude McCaleb son of Jake and Lauren McCaleb of Gordonsville, TN was born in 2015 with a rare genetic condition known as MPS1 (Mucopolysaccharidosis Type 1) attenuated. This specific enzyme is necessary in breaking down "waste" materials in the body. Without this specific enzyme, this "waste" accumulates throughout the body causing damage to major the body systems and organs. Jude's diagnosis journ
ey was different yet in some ways very much the same as other MPS diagnosis stories. When Jude was born, MPS was not yet included on the newborn screening in the state of Tennessee. Jude, unlike most with his condition, did not show signs or symptoms until the age of 4. Jude's pediatrician was the first to notice something was not quite right. Since Jude is considered to be attenuated (less severe) he did not present to doctors as the "textbook" picture of MPS1. Jude was tested for everything you could imagine with no answers. Jude's parents felt defeated. They could not stand the thought of seeing him be poked and prodded anymore. They took a break in their diagnosis journey and continued therapies to maintain Jude's quality of life. Six months later Jude seemed to be getting worse. They were noticing a decline in mobility, increased pain, and the bills were piling up with no diagnosis to support need for therapies. Something had to happen. They asked their family pediatrician for a referral to orthopedics which had initially dismissed Jude saying they had not seen anything of significance on his x-rays or MRI. But Jude's mom had a gut feeling that was where they needed to be. At this appointment with the orthopedist, Jude had new x-rays done to use in comparison to his 2020 x-rays. There it was. The build up between the radius and ulna in both forearms that was not there in 2020. Jude's parents were praised for following their instincts and getting him seen again. But that was only the beginning of a whole new journey. From July 2022 to September 2022 Jude saw 8 specialists and had 5 specific tests ran to confirm his formal diagnosis which he received on December 8th, 2022. On February 28th, 2023 Jude began treatment. Jude receives weekly ERT (Enzyme Replacement Therapy) via infusion route. He and his family make the trip to Vanderbilt Children's in Nashville for these treatments every Tuesday. These treatments last 4-6 hours each week. Jude will continue to require these treatments until research provides a more practical treatment or a CURE! Since beginning these treatments, Jude has shown tremendous improvement! His pain has decreased, his follow ups with his specialists have not shown increased damage, his energy levels have sky rocketed, and he just overall seems to feel better. Jude is a ROCKSTAR! Though we praise God for the improvements he has made and will continue to make, there are still issues that need to be addressed due to how long Jude went undiagnosed. Jude has been diagnosed with carpal tunnel in both wrists/hands requiring surgery, sleep apnea requiring tonsillectomy, and most recently foramen magnum stenosis requiring surgery summer of 2024.
