I'm grateful that Kenny and I had the appointment at Emory with Dr. Singh, Nissa (the nutritionist) and Erin (the genetic counselor). I've spent the last several days crying constantly (granted the crying jags aren't over but I am beginning to see that the glass is full halfway - as Dr. Singh says it) and they've just helped me accept the situation.
First we met with Erin, who we met at the hospital last week when we took Samuel for his follow up blood draw. She talked to us about why Samuel has pku - Kenny and I are both carriers for the gene and Samuel happened to get the recessive gene from both of us. When both parents are carriers there is a one in four chance that their child will have it. No one knows they are a carrier unless, like us, they have a child with pku - or they go through thousands of dollars worth of genetic testing. Isaiah has a 1 in three chance of being a carrier. Samuel will only have a pku child if he has a baby with another pku carrier.
Then we met with Dr. Singh. She spoke with us about her past with pku. She has been working with pku patients for 15 years. She and her staff are the leading researchers of pku in the country. People from all over the country come to train under her staff. She is currently doing a drug study on a drug that can help pku-ers eat more protein. She is very protective of her patients and has even called child protective services on parents that deliberately didn't follow instructions on diet for their child or reporting labs. -She considers it child abuse because the parents KNOWS the outcome (brain damage) if their child doesn't follow the strict diet.
Then we met with Nyssa. She is the pku dietician. She taught us how to measure his formulas so he gets just the right amount of protein and the right amount of periflex (pku formula). She taught us how to do his weekly blood draws and gave us all the stuff to get started.
They were all so nice and so supportive. We have cell, home and pager numbers for all of them in case we have any questions ANY TIME.
It's still scary not knowing if Samuel will be ok in the end (no one can predict that)...but I know that Kenny and I are a great team and will do everything in our power to make it possible.
We have a lot of work ahead of us.
Tuesday, July 8, 2008
acceptance.
Thoughts left by
Angel
at
8:03 AM
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