Sep. 1, 2020
Posted by Valaree DonFrancesco
A Personal Reflection from Stephanie Cozine, Delaware Rare Action Network Ambassador
Did you know that your baby is screened for different diseases depending on which state you live in? That it’s possible your state doesn’t screen for a disease that it is recommended to? Do you know what your newborn is screened for and how?
I knew that my baby was being screened as a newborn, but I had no idea the answers to these questions. I assumed that my first child was being tested for everything that could possibly be tested for.
Sadly, nine months after several misdiagnoses, I would learn that the state I lived in didn’t screen for everything. My son was diagnosed with a rare lysosomal storage disorder, MPS I Hurler syndrome, which was technologically feasible to screen for at the time, but unavailable. To this day, it is still unavailable in his birth state. It wasn’t until we moved across country and saw a third orthopedic specialist to give their opinion on the orthopedic manifestations of the disease that we received a correct diagnosis. So many missed opportunities for early treatment. So many unnecessary tests and wasted time. So many stories just like ours.
MPS I Hurler syndrome is a rare disease with a poor prognosis and NO cure. However, there is a standard of care for which early treatment is critical for better outcomes. IV infusion therapy and a bone marrow transplant are treatment options that can give a child with MPS I a better quality of life. Newborn screening is the fail-safe for early diagnosis and treatment.
The desire to help families get diagnosed and treated sooner fuels my passion for newborn screening advocacy. I advocate on a state and federal level so that we can move forward in helping these children and families across our country have better opportunities in life.
As a result of many who have advocated for MPS I to be added to the newborn screening panel in Delaware, my second child was screened for MPS I in the first year of screening. It was a proud moment to see her blood spots taken, and to know that she would be screened for everything that could possibly be screened for at the time.