I would like to introduce Erica Thiel, my patient partner for the Boston Marathon. Itâ€™s been such a privilege to get to know Erica over the past few months, and I really appreciate her willingness to share her story on the team blog. You can also follow her own blog, Rarely Defined, and you can find more info about MPS I on this website.
I am incredibly grateful for what the Running for Rare Diseases team does for those of us with rare diseases. This is my first year partnering as a patient w Genzyme’s team and I am incredibly grateful to Jess Colund for running on my behalf! I am an adult (30 years old, a milestone for individuals with MPS I!) living w an incredibly rare lysosomal disorder called MPS I or mucopolysaccharidoses type I which went un-diagnosed until I was 21. Many of the symptoms I have now are due to being un-diagnosed and thus un-treated until around the time I was diagnosed.Â Some symptoms like compensated hydrocephalus were likely present but un-diagnosed as a child presenting their own issues now as well as heart issues that were followed and more typical issues that were treated as a child.Â Â (enzyme replacement was first approved 2 years before my diagnosis).Â Because MPS is so rare and I don’t have some of the features of MPS even the Neurologists, Rheumatologist, Cardiologist Genetics team and other specialists I first saw missed the diagnosis.
I have had 7 surgeries in the past 2 months for shunt revisions, shunt infection (infection in the cerebral spinal fluid and brain) and shunt replacements. Altogether I have had 20-someÂ shunt revisions or replacements in a 1 Â½ yrs span (secondary partially to the then un-diagnosed and un-treated Hydrocephalus and thus skull compliance issues).Â Â I now have a Ventriculoperitoneal and a Thoracic-to-Pleural shunt, both of which drain cerebrospinal fluid (CSF), in addition to various other implanted hardware.Â Additionally because of the MPS I have had 20-some other surgeries and will be under-going mechanical valve replacements in late summer or fall for aortic and mitral valve stenosis and leaking.Â Most of these surgeries are pretty typical to MPS patients.
In the MPS world there are so few of us adults living w these disorders and so few who especially are diagnosed with the central nervous system aspects like increased intracranial pressure (hydrocephalus) and is not your ‘run of the mill’ diagnosis or treatment to begin with. All of these surgeries take their toll but they all also must be weighed for what benefit they may offer especially to quality of life. A big part of a rare disease is surrounding one-self with others who understand what you are living with or at the very least what the disorder is as life with MPS (or any rare disease I assume!) is very atypical. While you may feel well enough to do something one day, the very next day you may feel too sick or tired or both to keep a commitment.Â People who understand or accept what you have will accept that the disorder is unpredictable.
I think what MPS has most taught me is I wonâ€™t agree with every other person who also is living in the MPS world but I can also learn from many of these same people and we all have something to learn from each other. MPS has taught me too not take to many things if anything for granted and to try and learn to accept what I cannot not change but appreciate what I can. I’ve learned I can take charge of my care and those providers I accept on my team as there are endless amounts of doctors and healthcare personnel in the world but just a few who will truly care and want to help make life a little easier and a little better. These are the same providers who become invested and go out of their way to learn about your disorder, how the treatment may be different but what they can do to make your day-to-day a little better. Iâ€™ve learned to really appreciate my parents as not everyone with a rare disorder has parents like I do. And last MPS has taught me that I am surrounded by a God who knows his plan for me and in him I can trust and know there is an eternal life better than anything I can even imagine!