EGL Genetics Blog

MPS 1: The Honest Truth About My Disorder

Posted by Danyella Davis on Dec 1, 2016 11:00:00 AM

Thank you to this month's "My Beautiful CHILD" guest blogger, Erica, for sharing her diagnostic journey as an adult living with mucopolysaccharidosis type 1 (MPS 1).

Anyone living with a genetic, complex diagnosis knows the earlier the diagnosis, the better. At 21-years-old, I was diagnosed with MPS 1, a rare lysosomal storage disorder and a diagnosis most receive at age ten. I know all too well what a late diagnosis often means and how rapidly life changes.

 
Early on, I decided MPS would not change who I was, though nScreen Shot 2016-11-29 at 3.35.03 PM.pngot allowing it to take over my entire life has at times been difficult.

As an adult living with a congenital disorder, I've experienced several issues that require repeated on-going care and management. MPS affects virtually affects every organ and system in your body. Despite this, I strive to incorporate the disorder into my life verses allowing it to rule over every aspect of who I am. According to the National MPS Society, MPS I, along with six other MPS diseases, is a mucopolysaccharide disease that is progressive and potentially fatal. Statistics state 1 in 25,000 births will result in some form of MPS in the U.S.

Difficulty Finding Providers:

Pediatric doctors often don't see adults and adult specialists often have no idea how to manage complex patients with issues that are childhood and genetic based. It's extremely difficult finding providers, but I was determined to find the answers I needed to address my health issues. In the case of my MPS diagnosis, I found and put together a team of roughly 12-15 providers.

Screen Shot 2016-11-29 at 3.28.08 PM.pngAfter a few bumps, I realized I needed to train my team of providers to ensure I received the best care. I later learned that selecting providers in the same hospital system doesn't always ensure a clearer route of communication among your doctors.

Over the years, I've determined it's best having my specialists in multiple health systems. This arrangement provides me with better care. I've found that communication is key when receiving good patient care.

Adult Voices in the MPS Community:

I began advocacy work to be a voice for adults with congenital disorders. I've worked intermittently with the National MPS Society and Sanofi Genzyme. In recent years, I've volunteered for a small rare disease foundation currently working to create better treatment options for MPS. Science and medicine, as most rare disease patients know, does not move fast! I've found the best way to bring awareness to my disorder is by volunteering and balancing that involvement with hobbies entirely unrelated to the disorder such as my Sunday School teachings. 

Advocacy Matters:

After dealing with more than 70 surgeries, mostly within the past 5 years, I am often reminded that my advocacy work is not fruitless. As a patient, this work will one day bring about better treatment and awareness to doctors and providers. I'm hopeful that more healthcare providers will be able to recognize disorders like MPS, especially those diagnoses in patients who do not present as typical, straightforward cases.

 

Help us celebrate you! Join the "My Beautiful CHILD" community by sharing your story here.

Topics: Genetic disorder, MPS 1

 

 

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