Our meeting with the geneticist...

Nick and I both thought it was a little odd that they wanted to meet with us. We have been over Escobar and everyone previously agreed thats what he most likely had given the symptomology. We did not think we needed to go back over it, but they asked that we come in and have a meeting and they asked that we both be available for bloodwork. So we went.

We sat down with the doc and he basically explained that they found two mutations in Owens genes. One from each of us. However, something odd happened. The mutation is exactly the same in the gene from Nick and the gene from me. He explained it in laymans terms for us and basically each gene is a book. They read the book to find where the spelling errors are, i.e. mutations. Most people have spelling errors in their genes. Almost all do. However, its unlikely that two different people, with two different ethnic backgrounds have the same spelling error. Our results are saying that Nick and I both have the same exact spelling error.

This has a few implications and so we need to be tested to see if there has been a mistake. They think there has been a mistake. This result has told us that Owen has the fatal or lethal version of Escobar otherwise known as Multiple Pterygium Syndrome. Now, usually the lethal version causes late term miscarriages or stillborn death or presents you with a very sick baby, usually having respiratory issues and underdeveloped organs.

We have had ultrasounds and a full body MRI on Owen and one fetal echocardiogram and one after he was born. Owens organs are great. He is in no respiratory distress. He is thriving. He gains weight. He eats from a bottle.

So what could have happened? There are two scenarios that they are throwing out there now. Either one of us could have had an absent gene, meaning if either my egg or his sperm was missing a gene, which could happen, then the test would show the same book for each of us and of course the same spelling error. Or, Owen is one lucky boy that has lethal multiple pterygium syndrome and its not presenting that way, its presenting as just regular Escobar.

I am not thrilled with the results and when she handed me the genetics report I felt like I did not want to take it. If this is a mistake then I don't want a piece of paper that says the word lethal on it. I would prefer no one puts this in writing.

I spent a lot of time trying to make them convince me that things will not suddenly take a turn for the worst and the geneticist feels quite positive that Owen would be sick now and that its not the type of situation where things are going to go downhill. He feels confident that there was a mistake. He explained that there are two sides to people, the molecular and the clinical. Just because Owens genes say one thing, doesn't mean it is, especially since clinically, he is doing great. He is healthy. The doc seems to feel that the clinically is more important in this instance. For me it feels like a leap of faith. I was under the impression that once they read those genes, they pinpoint factually and exactly what is going on in your body. Now they are asking me to believe its different because it looks different.

It is different though. I am looking at him right now and he is big and cute and has spent the morning smiling at me. He ate his 4 ounces. He tried to shove his whole hand in his mouth for a half hour. He kicked his legs. He watched his mobile with big wide eyes.

I am trying not to feel bad about this result because as I have said repeatedly in this post, Owen is healthy. I am trying to put my stock in the idea that there was probably a missing gene and they will tell us and tell us all is fine. I am trying to be confident that Owen has no signs of any of the problems of lethal multiple pterygium syndrome. His symptoms are those of the other Escobar. I am trying to be calm, not freak out and operate as if yesterday meant nothing.

But just in case, say a prayer, think a good thought, do a spiritual dance or whatever it is you do that Owen remains healthy and thriving, no matter what the tests say. Thank you.