Life with The Leivas: The 12 MONTH post-transplant studies, DAY 1

Monday, July 19, 2010

The 12 MONTH post-transplant studies, DAY 1

Today we began the 12 MONTH post transplant studies (those words just scream bold font to me:). We are in Durham for a week of fun filled testing and examinations. It will be a busy week but now that we've gone through all of this before it seems like a breeze. We're even looking at this like this week as an extension of our vacation. Mike is here all week to help and it is making this process so much easier. There's no way I'd be able to get through this week without help.

On tap for today was the EEG and Olivia was an absolute superstar! I kept her occupied with goldfish and Sesame Street while the technician hooked her up. After they got everything set up they dimmed the lights and started the EEG. Olivia cuddled up and ended up taking a short nap. I was even able to close my eyes for a bit and take a quick power nap.

After the EEG we made an unscheduled stop by the PBMT clinic because Olivia has some drainage from her ear. This isn't completely unusual but we wanted to have it checked out just in case. The did start her on an antibiotic and they are took a sample and will do some cultures but it looks like an ear infection. The good news that Olivia seems to be feeling good and it isn't bothering her.

Peter loves playing in the sink in the exam rooms in Clinic.

Olivia occupied herself by pigging out on chips

No comments:

Post a Comment

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.