Life with The Leivas: Life in the real world

Friday, September 4, 2009

Life in the real world - Day +42 and 43

Just time for a quick update tonight. We are slowely adjusting to life in the real world. Discharge day was by far the most hectic and stressful day we've had during the entire process. We had some major insurance glitches that have since been sorted out but it was really tense for most of discharge day. Our first day in clinic was an absolute breeze and I hope that the rest of our days in clinic can go as smoothly. I'll fill in the details later but for now we're "home" in our apartment here and getting settled in. I've taken tons of pictures and will work on posting some of those soon.

1 comment:

Anonymous said...: Bless you all for your endurance to withstand the past 42 + days!!!!! We have watched from afar and walked beside you but did not have to take the same steps that you have! Happy days are ahead and we can't wait to hear your joyfull news of new wonderful adventures and experiences. Many days I have wanted to pick up a phone and just tell you that I'm with you and your family, but did not have a number. Dumbing me could have called Duke (just dawned on me!!). Celebrate today and the many days ahead. Know that many are with you on this journey, spoken and quiet.

Helen; Friday, September 04, 2009 10:45:00 PM

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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.