We met with the pulmonologist and all in all it was a good appointment. Owen does not appear to be in respiratory distress, which I knew but its nice to hear from the doctor. In addition, she thinks he looks great. She observed his breathing and did not see any sucking between the ribs or under the ribs until he was upset, which is pretty normal. She wants us to have a sleep study done and to look at the lungs on a dynamic (real-time) MRI but she thinks that he may need no breathing help or if anything, just a face mask (similar to Grandpa Joe's sleep apnea mask- think top gun) and only at night. The tests will monitor his oxygen and CO2 exchange and maybe everything will be just fine. I hope. I pray. It was a very positive appointment though. She does feel that Owen will need the VEPTR surgery, as he does not have much room around his left lung and she said that when babies like Owen are in such good shape, they want to treat him aggressively to give him a chance at a "cognitively" normal life. Neither Nick or I loved the phrasing she used, but we understand and both of us want Owen to have all the tools necessary for as "normal" of a life as possible. (Do any of you hate the term "normal" as much as I do? I hated it when we started talking about my sister with Downs and now I hate it even more. What's normal? Who is normal? Who is the judge of this standard? I digress..) Next stop on this flight....Philly.
As we suspected, we will be meeting Dr. Campbell in Philadelphia. We will have the sleep study done, the MRI and meet to discuss the plan, whatever it may be. I know Owen needs to get bigger and a little meatier, but the good news is that in the last month, Owen has gained almost ONE POUND!!!! I would have to say that the switch to a regular formula and the addition of cereal, fruits and veggies is working! This week, we add meat. I am so excited because hearing that he wasn't gaining was really weighing on me. I am so happy.
The geneticist called this week too. As odd as it is, Nick and I really do have the exact same mutation in the exact same spot. The diagnosis of lethal multiple pterygium syndrome (aka lethal escobar) sticks. I am surprised, but not upset. If we take care of Owens lungs and he continues to do as well as he is, then lethal Escobar is not so lethal for us and we are very lucky. Keep Owen in your thoughts and prayers anyway please.
I really feel so much better now that we met with the pulmonologist. I cannot wait to get the testing over with.
Hey, I also have Multiple Pterygium Syndrome. I'm now 20 years old and I can walk and basically can do anything by myself. I hope your little boy Owen will be fine and live full and happy life. wish you the best! Maya.
ReplyDeleteThanks Maya! I am really happy to hear that you can walk and are independent! I hope that Owen is the same way. Please keep in touch!
ReplyDeleteSara
Hey Sara! Same here... Nick and I have the exact same gene mutation. Our geneticist even went as far to say that through many, many generations, Nick and I could share ancestry. Took a long time for us to swallow that, but we figure we all are related in some way, right? For what it's worth, it sounds like Owen is doing wonderfully. I don't blame you one bit on the g-tube. I went back and looked... Reece was 10lbs 14 oz at 5 1/2 mos, and no one ever mentioned a g-tube. We did Pediasure for a while, but that's it.
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