Happy 4th of July and day 1 of the 6 week wait

Happy 4th of July everyone. Today is coming to an end, so I hope everyone is safe and had a good day. We did some grocery shopping, played outside, kids played in the rain, we got more of the shed cleaned out (more on that later), and we watched some fireworks. Overall it was a pretty good day. How many of you seen some fireworks? We would love to see pictures of your 4th of July celebrations.

Yesterday we had our big genetics appointment for the boys. They definitely think they have a genetic disorder and went ahead with more genetic testing. They did the Autism/ID Xpanded panel. This will take approximately 6 weeks to come back. I am going to try to keep myself busy and try to blog each day of our 6 week wait on our thoughts and feelings as we go through this process. I am also going to try to include information about testing and special needs and some of the diagnoses that the children have.

As today is day 1 we have a long 6 weeks ahead of us. Right now I am optimistic and hopeful that this time we will get results that will help us. The last testing we did was 4 years ago and it didn't really lead us anywhere. The results we got didn't really answer anything at all. We were told that the same thing could happen again, we could get no results at all, we could get mutations and a reason for everything, or we could end up getting results that can tell us information that has nothing to do with what we are looking for.

Today I am going to explain the test that they did. The test is called the Autism/ID Xpanded Panel. This is a genetic blood test that checks for Autism and other Intellectual/Developmental Disabilities. 2300 genes are checked for variants/mutations. Certain mutations may be normal variations that don't really mean anything and can just be a family variant. Other mutations/variations are known to be the cause of certain diseases/disabilities. When these are found you can get a diagnosis. Sometimes, like we did last time they may find variations that they are not very familiar with. They could be a new variation they know nothing about or a rare variation that it's not really known if its a disease causing variant or one thats just there. Variants found through genetic testing are currently classified and reported as follows: Pathogenic Mutation: variants with enough evidence to classify as capable of causing disease. Testing of at-risk family members and appropriate changes in medical management for pathogenic mutation carriers is highly recommended. A pathogenic mutation is always included in results reports. Variant, Likely Pathogenic (VLP): variants with strong evidence in favor of being disease causing.Testing of at-risk family members and appropriate changes in medical management for VLP carriers recommended. A VLP is always included in results reports. Variant, Unknown Significance (VUS): Variations with limited and/or conflicting evidence regarding pathogenicity. Targeted testing of informative family members to collect data recommended. Medical management based on personal and family histories, not VUS carrier status. A VUS is always included in results reports. Variant, Likely Benign (VLB): variants with strong evidence against pathogenicity. Testing of at-risk family members not recommended. Medical management based on personal and family histories. A VLB is not routinely included in results reports. Benign: variations with very strong evidence against pathogenicity. Testing of at-risk family members not recommended. Medical management based on personal and family histories. Benign alterations are not routinely included in results reports.

Hope this shines some light on things and stay tuned for Day 2.