It was not until the age of 21 years old that I was officially diagnosed with MPS I. As a child and one of two twins, my twin brother was unaffected. By the age of three, I had ear tubes placed and my tonsils and adenoids removed. I was diagnosed with cardiac disease between the ages of three and five years old.
In first grade gym class, I remember wondering why I was unable to do jumping jacks like all of the other kids because my shoulders and elbows where stiff and unable to straighten. Fast forward to teenage years and I was diagnosed with additional cardiac issues as well as unexplained severe carpal tunnel with muscle loss. I was sent to a Neurologist and local Orthopedic physician who completed an assortment of tests. As a result of those tests, I was sent to a variety of specialists at the hospital including a pediatric Cardiologist.
During those specialist visits, each physician would find an additional ‘odd’ symptom or characteristic and would then send me to another physician for additional various possible diagnoses. I was eventually sent to a Genetics team at another academic hospital close to where these specialists were located and at that time was being considered for two separate diagnoses. Unfortunately, there was no follow-up and thus no confirmed diagnosis.
Another year went by, with still no diagnosis and I moved for college. After seeing a different cardiologist and an Electrophysiologist, it was a few months later when I made contact with an adult congenital heart disease Cardiologist. I was finally on my way to finding the answers to my years of unanswered questions. Within three visits, he sent me to a Pulmonologist who had insight to what he was pretty sure was causing my symptoms. My laboratory results (after numerous lab errors) came back positive for Mucopolysaccharidoses Type I (MPS I).
I was 21 at the time of my diagnosis, which was much older than most individuals to be diagnosed with MPS I. Three months later, I started ERT infusions every week which helped gastrointestinal (GI) and physical appearances. Severn years later, I have been through almost two (2) dozen surgeries for carpal tunnel (twice for each hand), tendon transfer, hydrocephalus-shunt placement and revision, spinal decompression at c-spine and lumbar spine and other surgeries such as hernia repair.
I still see the same cardiologist and am forever grateful for the diagnosis. Doctors place me in the moderate range but on the milder end of moderate and not quite plain mild MPS I due to my symptoms in that I do not quite fit the MPS I spectrum due to the mutations I was found to have.
It has not always been easy, and the toughest part of my diagnosis has been because I do not ‘look’ exactly ‘like’ an MPS I patient. I have had many people say “you can’t possibly have this disorder you look so normal”. Many physicians do not take me seriously and when they are unable to determine an answer for one of my symptoms, they are still quick to blame it on me, the patient which is very frustrating. Yet, in all of my reality, I take life one day at a time and do the best we can with the information I am given.