Fast vs Slow Progressing
MPS VI affects different people at different rates.2
Some people with MPS VI show signs early and clearly. Babies with this “fast progressing” MPS VI may not grow well. They may develop unusual facial features, a tongue too large for their mouth, vision problems, breathing problems, disease of the heart valves, stiff joints, and other problems. With these obvious symptoms, fast progressing patients are often diagnosed early.2
Other people with MPS VI may have symptoms that are slower to develop. At first, some of their symptoms, like constant ear infections, may just seem like common childhood problems. On the other hand, a problem that is unusual in children, like stiff joints, may be seen as something that affects only the bones. For these “slow progressing” patients, it can take the doctor a while to see that different symptoms, affecting many parts of the body, are all really due to MPS VI.2
There is no hard line between fast and slow progressing patients. There are degrees in between. Symptoms can be very different from patient to patient.2
Even though the symptoms are not initially clear in people with slower progressing MPS VI, GAG is still building up in their cells. It is still causing problems in their organs. Over time, people with slow progressing MPS VI will notice more and more symptoms and the condition will progress.2 That is why it is important to get on therapy.
All MPS VI patients are candidates for treatment with NAGLAZYME® (galsulfase). NAGLAZYME provides the enzyme the body needs to break down and get rid of GAG.1
MPS VI SYMPTOMS VARY WIDELY FROM PERSON TO PERSON.
Jodi’s Story
Jodi is a 29-year-old woman with slowly progressive MPS VI. Her diagnostic history illustrates some of the challenges in identifying people with MPS VI and some of the potential benefits of therapy. On these pages, she tells her story…
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The Beginning
When I was a child, I had ear and sinus infections all the time. When I was five, my parents began to suspect something was wrong. The strap on my summer dress wouldn’t stay up on my shoulder. My mom noticed that the shoulder blade on the right stuck out more than my left, and she took me to see a back specialist. He diagnosed me with scoliosis.
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Disease progressing, symptoms spreading
At age 7, I had my first set of tubes put in my ears. At age 8, I had numbness in my right arm. I couldn’t hold pencils to do school work. My hand would go numb, and I couldn’t feel anything. A second set of tubes were put in and my adenoids were taken out. Still, we didn’t know what was wrong.
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Finally, A diagnosis
At age 9, when I was in third grade, I was taken out of PE because I had trouble breathing and had so much pain I couldn’t sit in the classroom afterward. After 4 years, I finally found out what I had. A geneticist diagnosed me with MPS VI, and told me I could expect to be in a wheelchair by high school, eventually losing the ability to use my hands.
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Too many doctors
In ninth grade, I stopped going to doctors. I got tired of hearing what was going to happen to me. I wasn’t having any problems, and nothing seemed to be changing. At the end of my senior year, I started having heart problems. I ended up in the Emergency Room twice with high blood pressure and rapid pulse. I’d had dizziness and almost blacked out. The ER doctors said I was on a caffeine high. The heart specialist couldn’t find anything wrong. He said my heart must just be small and prescribed medicine to slow down my heart rate. I’ve been taking it for ten years now.
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Getting treatment
In 2000-2001, I had been hearing about a new drug for MPS VI. When Naglazyme was cleared by the FDA in 2005, I didn’t have any insurance, but BioMarin helped me find a program that would cover me. I went on treatment in 2006, and it’s really helping me out. I have more energy. I can do more. BioMarin and Naglazyme have given me hope for the future.
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Next: How MPS VI is diagnosed