As a parent, the worst thing you can ever imagine is something bad happening to your child. I honestly don’t know how to adequately type this out to convey the way that I feel.
In November 2019 Jacob was seen for a sick visit on a Sunday morning with an unfamiliar Dr. at the practice. She brought up concerns about the shape and size of Jacobs head and after talking with the other Dr’s in the practice suggested we get his genetics tested. In addition to his head concerns was the concern for his delayed speech and constant sickness. We scheduled genetic testing for May 2020 (their 1st available appointment) at UNC.
On February 4th Jacob was evaluated by our county’s public school system special ed, early intervention specialists due to a concern of a speech delay. He was evaluated by a Physical, Speech and Occupational Therapist as well as a psychologist. A few days later his pediatrician said that based on the findings in that evaluation we should have his genetics tested ASAP. They noticed that among delays, Jacob also has a limited range of motion due to his joints. She explained that joint problems come with a medical diagnosis, not a developmental delay.
Fast forward to now, March 2020. Jacob has been diagnosed with a rare genetic disease known as MPS 1. Mucopolysaccharidosis 1 is progressive disease that affects many parts of the body. There is no cure. People with MPS 1 are deficient in the enzyme alpha-L-iduronidase, which results in the accumulation of sugar molecules (GAGs) on his bones, skin, tissues and organs. The current treatment for this is weekly infusions through a central line port that will be placed in his chest. These infusions are hoped to slow down the progression of this build up.
I thought my sweet baby boy just had a pudgy tummy, not an enlarged liver and spleen. I thought his bushy eyebrows and big head were just hereditary, not known as coarse facial features related to MPS. I thought that he just squinted in the sun because let’s face it, the sun is bright – not because he has clouding in his corneas. Every issue he has had is related to this disease, and while we were treating what we knew of individually, there was always a bigger issue.
We are devastated. 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 baby boy has been so sick pretty much his whole life. We are extremely lucky to live where we live. One of the top, if not the top MPS specialist is located at UNC and is 30 mins from our house. We are also lucky in the fact that we received this diagnosis so quickly. We are confident in our team of doctors and can’t help but think God placed us here in NC for this reason.
Our lives are now forever changed with this diagnosis as the future is so uncertain. Please keep our family in your prayers and hug your babies a little tighter. I will be documenting our journey with MPS as well as posting updates through our Facebook page titled “Jacob’s Journey with MPS 1”