Life with The Leivas: Day +321 Clinic Recap

Wednesday, June 9, 2010

Day +321 Clinic Recap

Today we all headed to Durham for Olivia's clinic visit. We haven't been in 4 weeks so I really can't complain.

Basically things are going well. Dr. Paul is on his inpatient rotation so we saw a different doctor, Dr. Prasad. It can sometimes be frustrating to see different doctors but they really practice team medicine at Duke and it is always patient centered so even though we haven't see Dr. Prasad in months he knew exactly what was going on with Olivia. It has been a while since Dr. Prasad has seen Olivia and he was very impressed with how well she's doing. He was happy to see her running around and giggling and laughing at him. We're going to begin weaning Olivia's final steroid. Everything is on track for her 12 month studies next month. Olivia is having some very mild stomach/digestion issues. Her lab work looks great and she isn't showing any signs of the dreaded Graft vs. Host disease yet. The consensus is that Olivia might have some food allergies. Since she has asthma, eczema, and seasonal allergies it is also probable that she has some food allergies. We're going to try going lactose free around here for a bit and see if that changes things. We're also incorporating allergy testing into her 12 month studies. Olivia is also starting to have some sleep issues, when she goes to sleep then she sleeps well throughout the night. Every once in a blue moon (but twice in the last month) she will just not go to bed, she stays up almost all night long giggling and playing in he room. I know that sleep issues are common for kids with Sanfilippo syndrome so I was worried about the direction that we're heading but Andre assured me that it's the result of the changes we've made to her medications as we're weaning them down. Overall it was great clinic visit.

I really wish I could have gotten a cute picture of the kids together because they were excited to sit together in the big chair. Its just hard to keep these too still. Olivia seems to have the sit still and smile thing down, Peter, not so much....

Olivia is used to waiting for the doctors at clinic

Peter, not so much. He thinks he's being tortoured.

What a difference a few months makes....Olivia is now okay with sitting under the tent to get her breathing treatment by herself so I can stay with Peter outside the tent. Peter now understands that he has to wear the mask when Olivia is in the tent.

We all had a nice relaxing trip home!

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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.