Thursday, May 1, 2014

Jackson’s Story of Life with MPS

I met a mom, Carrie Dunn, recently at our children’s parent teacher association (PTA) meeting. She stood up to talk about her son Jackson’s health and an event the school was hosting to help to raise awareness for the cause.
Jackson (on the left) was diagnosed with a disease called Mucopolysaccharidoses (MPS). It is a genetic lysosomal storage disease (LSD) that impacts 1 in 25,000 births and is caused by the body’s inability to use specific enzymes to break down and recycle materials in cells.
While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the build-up of cell materials. Jackson was diagnosed at the age of three.
There are numerous types of LSDs and the disease differs from patient to patient and symptoms vary in severity. In most cases a child receives a recessive gene from each parent.
For Jackson, he has MPS II, also known as Hunter Syndrome, and it is so rare that it effects 1 in 100,000 males. This form of the disease is also severe, progressing and life limiting.
Affected individuals will MPS may experience brain disability, cloudy corneas, short stature, stiff joins, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.
While there is no cure for MPS or related diseases, medical advancements are making great strides in helping to manage the disease symptoms. Currently there are enzyme replacements on the market and gene therapy, among other options. Bone marrow transplantation has also been considered successful for many; however few MPS patients qualify for this high-risk procedure.
My heart goes out to Carrie, Jackson and their entire family, and the many families coping with this life-threatening disease.
Carrie has a “Courage Page” on the website of The National MPS Society where she chronicles Jackson’s experience while also fundraising to support medical costs for her son, and towards future research. Jackson is currently on an enzyme replacement therapy to help with symptom management and disease complications.
Please join Mommy's Point of View, and others, as we help to elevate awareness for this disease and to support Jackson and his family. Donations are always welcome. Every little bit of attention and funding goes a long way.

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