MPS Patients and their families celebrate International MPS Awareness Day

May 15, 9:08 AMChicago Special Education ExaminerKindall Nelson

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Lauren is a bright and happy three-year-old. She has three older siblings who love her very, very much.  She attends preschool and delights in bringing a smile to the face of everyone she meets. She has already mastered using a computer mouse and playing games on the internet. She loves to sing. Her favorite songs include “Your Grace is Enough” by Chris Tomlin and “Lose My Soul” by Toby Mac (She just sings the chorus over and over). She also has some traditional favorites like Itsy-Bitsy Spider and B-I-N-G-O!

So, what about Lauren makes her different from other three-year-olds? She suffers from a rare disease called Hurler’s Syndrome. It is a form of MPS (mucopolysaccharidosis) that results from a genetic defect in her DNA. MPS and related diseases are a family of rare, usually fatal, genetic diseases that occur when the body is unable to produce a specific enzyme. The enzyme that is missing determines which type of MPS a child has.

The hardest part of this disease, is that there is no cure.

Some forms of MPS have treatments. Enzyme replacement therapy can slow down the progression of the disease. However, one of the major symptoms of MPS is the fact that it doesn’t cross the blood/brain barrier. So, even children on ERT will likely die due to the disease.

Lauren received a bone marrow transplant in May of 2007. Her body, thanks to her donor, now makes the enzyme that her own blood couldn’t make. However, there is no way to know what the future holds for her. Doctors have been transplanting Hurler’s children for over 20 years, which puts a few who are still surviving in their mid and late 20’s. While the transplant halted the progression of the disease, it cannot correct the problems already caused in her body. She will continue to have orthopedic issues as well holding the potential for other issues to arise in the future. Her family says they are glad to have a great support in the MPS Society.

“The MPS Society advocates for our children and their families. We do this by funding research programs to help find cures for MPS and related diseases, give families a better quality of life and increase awareness about MPS diseases within the medical community with programs such as ‘Join The Search’,” said Barbara Wedehase, executive director of the National MPS Society. “As we’re scattered throughout the country, we’ve created International MPS Awareness Day as our very own day to help establish a sense of community for us to celebrate together.” 

Mucopolysaccharidoses (mew-ko-poly-sak-a-ride-dos-es) and related diseases are genetic lysosomal diseases (LD) caused by the body's inability to produce specific enzymes.  

Symptoms of the diseases may vary from one syndrome to another although there are many similarities. Affected individuals often have chronic runny nose, mental retardation, cloudy corneas, short stature, stiff joints, speech and hearing impairment, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span. Diagnoses are often missed for years, as the diseases are so rare and early symptoms can be mistaken for common childhood ailments, such as a cold.  

More information on MPS diseases can be found at http://www.mpssociety.org. 

About the National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases. Since 1974 the Society has supported individuals and families affected with MPS and related diseases. We are governed by a member-elected volunteer Board of Directors, many of whom are parents of children with MPS. We benefit from the expertise of a Scientific Advisory Board, comprised of world-class physicians, researchers and medical professionals throughout the world.

Click here to see Allison talk about MPS Awareness Day. She has the same disease as Lauren, but is receiving Enzyme Replacement Therapy as her treatment.