Jennys Photo

Klein Family Story - Mucolipidosis

Jennifer is 27 years old and was diagnosed in 1999 with Mucolipidosis, (ML) Type III.  The road to diagnosis was difficult as Jennifer didn’t present symptoms early on in childhood.  Doctors had misdiagnosed Jennifer for 1-1/2 years with another disorder.

Today, Jennifer has had multiple surgeries for her back, lungs, ears and most recently her second hip replacement that was successful and has allowed Jennifer to continue walking. She suffers from osteoporosis and benefits from a quarterly infusion that helps strengthen her bones and provides some pain relief. Mucolipidosis is a progressive disease that has no treatment and has no cure.

Our family has made many friends around the world as we travel on this path of rare diseases.  She is among approximately 100 patients in the United States with this disease. 

Together, our family’s goal is to raise awareness and money for Mucolipidosis II, II/III and III.  It is critical we raise funds to develop a treatment for those suffering from ML.  There are treatments for some of the sister MPS diseases that are similar to Jennifer, but not ML. 

Jennifer is fortunate that she graduated with her masters in physiology last year, and has been hired as a Junior Scientist.  Jennifer has a passion for learning more about lysosomal diseases and will be highlighting her poster presentation again this year at WORLD. Still, she struggles each day with pain, but has such courage!  Her motto, “No, isn’t an option”, resigns with us each day. 

Thanks for stopping in and taking a look around the Web site.  This page is built in honor of Jennifer and those suffering from MPS or ML. 

Before you leave the site, make a donation - help save a life, through research.

The Klein and Schleter Families


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