The past two weeks have been pretty rocky in our house. There have been some highs (the Duncans came for a 10 day visit!) and some lows (read on...they will be listed in detail). The first low arrived on July 3rd. Owen does not have Smith Lemli Opitz (the cholesterol disease). I took this news pretty hard even though I never truly thought he had it. This disease represented the final hope for Owen in my mind. It is not a life limiting disease and while there isn't a cure for it, there is treatment. We would have been able to modify Owen's cholesterol levels to bring him to the appropriate balance. Who knows what this would allow my boy to achieve.
It also pretty firmly closes the door on my hope of having another child some day. As I have mentioned in previous blogs, there is a 1 in 4 chance with every child Pete and I conceive they could end up like Owen. That is a risk Pete and I would never take. It comes down to: if we know what is wrong with Owen= more kids. If we never get a diagnosis= no more kids. We are pretty firmly entrenched in the no diagnosis category at this point. If we do another sedating procedure in the future (an MRI), we will allow the doctors to draw Owen's blood for more cholesterol testing. There are a few tremendously rare cholesterol diseases that Owen's geneticist feels would be worth eliminating, but it requires a blood draw from Owen. Owen does not part with his blood easily, and since none of these diseases have any kind of treatment, we are opting to wait. Owen has enough discomfort in his life.
Before this post gets to be too much of a bummer, I will mention the high of the past few weeks. Kevin and Carrie (my cousin and her husband, aka Ellie's Godparents) arrived at the end of June for a visit. They provided us with support, love, comic relief, distraction, and happiness. We went to the beach, into Boston, a beer fest, the park, and had a lovely dinner out- as just adults -thanks to the wonderful babysitting skills of Pete's aunts and another fabulous cousin. Here are a couple pictures of the fun we had:
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| Happy 4th of July |
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| Ellie and I playing in the fountain on the Greenway in Boston |
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Ellie driving a Duck Boat
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As the Duncan's prepared to head back to Minnesota, Owen decided to start another one of his hunger strikes. This one lasted a week and was pretty frightening. He hasn't done this since March, so it came a bit out of the blue. He had no interest in eating, slept a lot, and moved rapidly down the
Quality of Life scale I am always measuring him against. As quickly as the strike arrived, it departed. For the past two days, Owen has been slamming back bottles like a champ and is back up to his regular intake.
We are not sure what is going on with our little guy at the moment. His appetite has returned, but his irritability is also at an all time high. We are still seeing seizures and they are lasting longer and longer. Pete thinks we are witnessing signs of progression of Owen's disease. I am not as convinced. I anticipated progression to mean something more tangible- like Owen losing his ability to swallow or to start aspirating his formula. Pete says the doctors mentioned this to us back in November when he was first diagnosed. Those days are a bit of a blur to me so who knows what selective memories I chose to store and what ones I chose to disregard. Either way, we will be bringing Owen into Boston sometime this week to see his team of doctors. Progression or no progression -it doesn't really matter to me- quality of life is what is important and at the moment it is pretty low for Owen.
With that said, he had a great night last night. He truly is a mystery. What a turkey!
