So today was the first day of Olivia's pre-Transplant work-up. The pre-Transplant work-up process is scheduled to last about 2 weeks. For Olivia it will consist of a series of tests to make sure that she's healthy before they begin the transplant process. The work-up process also includes lots of scheduled meetings for Mike and I to attend so we can learn more about the transplant process, available resources, etc. Today was a short day. They collected bodily fluids (blood, nasal secretions, stool) and we meet with the Nurse Coordinator in charge of the Pediatric Bone Marrow Transplant (PBMT) Program. I don't remember if I've mentioned her before but for the purposes of our blog I'll nickname her "Lady J" and she is absolutely fantastic! She is so patient, understanding and approchable. She's made this entire process much easier!
To celebrate the end of our first day (and also just because it's hot here) we went to the pool here in our apartment complex again. We all had a blast, and Olivia is starting to swim by herself. Just as we were walking out of our apartment to head to the pool Mike decided to grab the camera and I'm so glad he did! We got these great pics and a video of Olivia swimming by herself for the first time!
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.
1 comment:
fun, fun, fun! Gosh, peter looks so different already!
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