35 Years With MPS 1

You’ve been a part of who I am since birth, a disorder so rare there are only, roughly, several hundred of us here in the U.S. A disorder so rare that few doctors even know what MPS is.

Although I wasnt diagnosed with MPS I until I was 21 (which is fairly unusual and old for people with this disorder) I had experienced symptoms from having MPS virtually since birth. I lived a relatively normal childhood with a few surgeries that are common to MPS I patients, but that can also be chalked up to ‘normal childhood issues.’

I dealt with intermittent severe headaches from early on, in addition to a whole host of other symptoms. I saw and was followed by a Cardiologist very early on and over the years had other symptoms creep up that where unexplained.

Fast forward through grade school and high school which where relatively normal mixed in, in high school with a wide scattering of new specialists one which would send me to one and then another. I’d seen specialists ranging from my cardiologist, numerous neurologists (a syndrome Charcot Marie Tooth was tested and ruled out) and many tests including many EMGs where done. Genetics, rheumatology, several orthopedic doctors and others were seen and other testing done.

Fast forward again another few surgies where done, I moved, saw several more Specialists on my own and eventually switched to a Adult Congenital Cardiologist who was new to the Children’s Hospital in another part of WI.

By the third appointment, three months after I started seeing this Cardiologist, he came in to the exam room, sat down and told me that he and the pulmonologist he had referred me to suspected I had a rare genetic storage disorder and that testing for this had not been done in the slew of tests done by the first genetics team.

He explained a little about what MPS was and admitted he did not know what type I had, but was confident this would explain my (up to this point) unexplained symptoms.

I was referred to the genetics team at his hospital and a month later I saw this new team and blood and urine testing was done. After about six weeks, I had the results which were positive for MPS I. There was a treatment available and my doctors would meet with me a week later to go over everything.

Three months after this appointment I started the weekly Enzyme Replacement Infusions and now ten years later I have a Port-a-Cath for these infusions, have had several shunts placed, replaced and revised. In 32 years with MPS I (ten of those now having been diagnosed) I’ve now had near 60 surgeries for issues related to MPS ranging from two open heart surgeries, near 35 shunt surgeries for hydrocephalus (those headaches!) and many, many other surgeries for spine, hernias, and hand (carpal tunnel) issues.

While MPS has changed my life a lot, it has also placed in my life some really wonderful providers and friends and given me many amazing experiences. It’s taught me  about standing up for how I feel and what I know I am experiencing.  While I have always been pretty stubborn I think having the MPS diagnosis taught me a whole new level of stubborness!
Instead of working as a Nurse I now am blessed to say I am able to help people albeit in a different way by working for a rare disease foundation doing advocacy related to MPS I and research.

I also have been given the opportunity to speak for the pharma company that makes the ERT drug I receive and for the last  three years have been partnered with this same pharmaceutical company for the ‘Running for Rare Diseases’ Team which partners long distance runners with patient partners who have rare disorders.

All funds raised from this partnerships go to NORD and their un-diagnosed diseases’ program. While there are days I struggle I cannot complain and instead I remind myself it is simply best to live with it in the hardest moments as ‘one day at a time’ in order to not let it overwhelm me.