Thursday, February 9, 2012

Genetic Testing

James and I met with Dr. Carlos Bacino this morning to discuss the results from the various genetic testing they performed. Essentially, they were not able to determine the cause of the hydrops and could not relate it back to anything genetic. It was good news, but it left a lot of questions still unanswered.

In terms of having another baby, Dr. Bacino said he didn't have a problem with us trying again. We would basically have the same risks as the general population. We are not any more or less likely to have this occur again. James and I still are dealing with a lot of emotions about trying for another baby. We want another child so badly, but the thought of possibly losing another child is so unbearable to us.

One thing that they did find from the tests is that James has a deletion on one of his chromosomes. It's the number 7 chromosome and is related to lung impairments and cystic fibrosis. This may be a correlation to Andrew's asthma.

Another discovery is that I am homozygous for a deletion on chromosome number 2. And as such, Andrew has one deletion on his. Dr. Lalani is a doctor at TCH who is actually working on a study regarding how this deletion might be correlated to speech delay, which makes some sense considering how both Andrew and I had some issues with speech. Dr. Lalani would like for us to be a part of her study, but we will be talking more about it with her in the future.

Here is Andrew riding his bike in the courtyard after I picked him up from school.

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