In the midst of the Autism diagnosis we have been on the hunt to find out why the boys have Autism in this hunt genetic testing was done to see if there were any added or deleted chromosomes. In the boys case the test came back with a missing chromosome 10, we were told by the doctor that this was normal, but he would refer us to a geneticist if we liked. I insisted that we see one because even a portion of something in the boys genes missing doesn't seem right to me. So after a long awaited call from Dr Hood, we got things set up and running.
At the appointment again the normal weights and heights. I don't remember the boys heights but I do remember there weights. Adriel was 32lbs and Mathias was 29lbs. Then in to talk to the doctor and get questions answered. The doctor explained to us about genes and how they worked, she examed the boys and we talked for a bit. The doctor informed us that the reason why they consider the piece of the choromsome that the boys are missing normal is because they don't really know enough about it to know if it does actually cause health problems that the boys are having. They are still learning, so we proceeded to ask why the boys have Autism. The doctor explained to us some of the possible reasons but said that only about 25% of the population that has Autism know why. Most of the time it's unknown to why someone has it. With knowing those statics she asked if we wanted more tests ran, blood and urine to test for metabolic differences or vitamin deficiencies. She again reminded is this might be a wild goose chase. Josh and I agreed though and requested the testing be done. They asked if we could do it on just one and we agreed this would be acceptable, if something come back on Adriel ( the one we had the tests done on) then they will test the other. In the discussion with the geneticist she did notate that the missing part of the chromosome was the same in both kids and asked if we knew for sure that they were fraternal twins. We just assumed they were, we couldn't remember being told otherwise. So we thought they were. The geneticist is now question that as it is very odd for the exact same piece be missing in 2 different individuals. ( Keep in mind fraternal twins are basically 2 separate eggs/ separate people. Where identical is basically 2 copies of the same people or one egg that split into 2 of the same egg. ) So she believes they might be identical. I'm not sure what I think as Mom. I believe they are fraternal, but only time will tell.
So after a long discussion with the doctor the lab tests were ordered and we started the testing. They took blood from Adriel who was a trooper and then wanted us to get a urine sample. We meant to get it sooner rather then later but frantically ended up getting it a few days later during Ellies appointment, but thats a story for Josh to tell. Anyways we got the urine sample and now we wait. We were told that the tests will trickle in one by one at different intervals. But we will know the results on all of them in three weeks. We are honestly hoping to be that 25% that knows why. With all of our kiddos have developmental delays or motor delays we feel theirs something going on we don't know about and we need to know what. No matter what the results are we are a family and we are in this better or worse. We will take it as we always do, one minute at a time and keep praying.... I mean, God already knows the answers, so why worry.
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