Monday, November 11, 2013

Owen's Story: Part 2

This is the story of Owen--our angel here on Earth.  If you missed part one, you can find it here.

Misdiagnosis

We noticed that Owen spit up...a lot! Our whole house soon began to smell like acid. The doctor said it was acid reflux, and that we'd keep a close eye on Owen's weight to make sure it wasn't having a severe impact. 

At Owen's six month appointment, he weighed in just over ten pounds.  A few ounces less then he had at four months.  He was also delayed in motor skills.  He couldn't sit up or roll over.  The doctor, believing it was still severe acid reflux, referred us to a GI specialist in Spokane. 

I was told to put Owen on Nutramigen--a highly priced formula and stop nursing to get him to gain weight.  That formula stank.  Even worse than the acid.  But we spent $20 on each can and tried to get Owen to eat it.  When we mixed it with rice cereal and spooned it in he kept it down a little better.  We waited anxiously for our June appointment with the specialist. It was my first experience with a waiting list before being seen...definitely not my last!

In the meantime, we celebrated Owen's first birthday.  He had just learned to sit up, and could roll over most of the time.  We had a grand party for him, and he loved his cake!

At the appointment, Owen was prescribed a medicine for his reflux.  The GI specialist also told us that he believed something other than reflux was at the root of Owen's problems.  He recommended having Owen seen by the Developmental Pediatrician. 

We were able to get in to see that specialist in July.  While waiting, we completed our move back to Grouse Creek Farm.  We were living with my parents while fixing up the old family home across the road. 

The developmental pediatrician recommended genetic testing.  The blood work was drawn, and we began the waiting game.  When her office called and asked us to come in, we knew that they had found something.  Otherwise a simple phone call would have sufficed.  With heavy hearts, we headed into Spokane for that appointment, knowing that our lives would be changing.

Owen was diagnosed with a deletion on the 15th chromosome.  Prader-Willi was the diagnosis that the developmental pediatrician assigned.  I asked if it was possibly Angelman Syndrome, as they are sister syndromes, and were two of the conditions I had been researching while waiting. She assured me that it was Prader-Willi and referred us to the genetic specialist in town.

About this same time, Owen's weight was continuing to decline, and he was also diagnosed with failure to thrive.  We had a swallow study done, and found that he was aspirating liquids. A g-tube and fundoplication were recommended. 

In August, we headed into the geneticist's office ready to learn more about Prader-Willi and our chances of having other children with this disorder. Our path would be redirected once again by the findings of this specialist. 

For the rest of Owen's story, please click here: 1,2,3,4,5

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