Gabriel Genetics Part 1

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Over the course of the next 6-8 weeks we will have 4 major appointments at the Genetics clinic. 2 for each of the girls.

Today was the first visit for Gabriel. She had her evaluation and her blood drawn for microarray genetic testing.

We already have some unexpected answers from today’s visit. Gabriel is somewhere on the Fetal Alcohol Syndrome spectrum. She also, technically, has microcephaly. The doctor we saw today was nearly certain based upon her evaluation and previous testing done in Bulgaria that the microarray labwork will come back positive. We will have another appointment to meet with the doctor when (not if, but when) it does.

The doctor was not all doom and gloom. She was optimistic that she can make great strides with the right services (as we all are) and is impressed with the progress she has made over the past 2.5 months.

Today was also another milestone. The longest that the two girls have been apart since the day after I picked up Gabriel and had to take her (by herself) to the US Embassy in Sofia. Gabriel was quite nervous on the long car ride to the doctor’s but was fine once we were there with her backpack of belongings. It was a good stepping stone as next week they will be separated all day for Gabriel’s full day comprehensive developmental evaluation.

We expect Gabriel’s results towards the end of February/early March. Jude’s inital appointment with Genetics is set for March 1. We already know that Jude will probably be referred for microarray testing as well based upon limited birthfamily medical information. We also know that Jude’s would come back positive as she has Neurofibromatosis type 1 (we are also looking to rule out/in other specific genetic conditions). Thus each child will have 2 visits. One for testing, and one visit to discuss positive results (not usually scheduled in advance as positive results are usually not so highly anticipated).

Perhaps one of the saddest part of the adoption journey for the girls has been the inability to know their own genetic histories. While this in no way makes up for the social aspects of knowing one’s birthfamily I am hoping that this can fill in some important holes that, at least for the apparant future, we do not have access to. In Bulgaria, there is some early discussion about allowing the unsealing of adoption records at the adoptee’s or adoptive parents direction and allowing access to now private medical records. This would be a wonderful thing for families, in my opinion. At present, there is no official means for adoptees to track down birthfamilies. Most who have made this choice utilize the services of a private investigator.

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3 responses »

    • Her philtrum measurment was 4. Lip (I recall) was a 3-4. Changes in the nasal bridge and eyes. This was taken in conjunction with an unknown prenatal history, behaviors (we naturally don’t publish her entire life on the blog), and a “Hockey-stick” palmar crease. I was the told the microcephaly play a role as well.

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