Life with The Leivas: Healthy Lungs

Wednesday, January 19, 2011

Healthy Lungs

I'm very pleased to share that at Olivia's follow-up appointment her lungs sounded (and looked) very healthy! We received good news at our appointment but it did not go smoothly. I hate that I have to advocate for Olivia at every turn. It would be so nice to see a doctor that had some knowledge/understanding/awareness of Sanfilippo syndrome or MPS or even lysosomal storage disorders in general. I respect the doctor when he says that he doesn't know much about my daughter's condition. Really and truly I do, I appreciate their honesty and I realize that it can be difficult to so openly admit to shortcomings. BUT....as a parent who is exhausted and scared it would be so nice to meet with a doctor who knew more than I did about Olivia's health. I think it would be such a special experience to have a doctor make recommendations rather than the other way around. The military health care system has some perks but we see a different doctor every single time that we have an appointment. It is endlessly frustrating! Okay, enough complaining for tonight.

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MPS/Sanfilippo Syndrome

In October, 2008 Olivia was disgnosed with MPS III or Sanfilippo Syndrome, type B. MPS stands for: Mucopolysaccharidoses. It is a genetic lysosomal storage disease (LSD) caused by the body's inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials.

Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.