So frustrating and disappointing to say the least.
To explain things I'm going to start with a basic genetics analogy given to me by the genetic counselor:
Each individual chromosome we have is like a book. So if we have 46 chromosomes, it's like having 46 books. Lily and Dasha have a whole other book (47) because they have an extra chromosome from Down syndrome.
Each individual gene are like the sentences in the book and our DNA are the letters in the sentences.
Are you following all this? :)
So, Whole Exome Sequencing testing looks for "misspellings" (aka -genetic mutations). Everyone has misspellings, but not every misspelling will affect the way the gene functions.
For example, take the sentence "The color of the car is red."
A minor misspelling would be "The colour of the car is red." -Adding a u to the word color did nothing to change the way the sentence was interpreted and it is very unlikely this minor misspelling changed the way the gene works.
A moderate misspelling would be "The car is red" -You still understand the meaning, but obviously it's a bit different from the original sentence. This change may or may not affect how the gene functions.
A major misspelling would be "The wagon is car." -The gene is definitely affected in some way which then could cause issues, disabilities or diseases to show up immediately or perhaps develop later on in life.
One other tidbit she shared was how some misspellings are dominant and some our recessive. Meaning if you have a dominant misspelling it only takes one copy from one parent to cause or possibly cause something to occur depending on the severity of the misspelling. Where if a misspelling is recessive then the child would just be a carrier, unless both parents have the same recessive misspelling and pass it down to the child. Then the child would be affected by the misspelling. Something to keep in mind for when the boys grow up and decide to have their own families.
Okay, with all that being said, here's what we know about our family. We had blood taken on Reagan, Kaelan, Leo, Matt and myself. They did the complete Whole Exome Sequencing testing on Reagan and Leo. Insurance refused to pay for the entire test on Kaelan because he and Reagan are twins. Um, they are fraternal twins and no more alike genetically than Leo is to either of them. I guess the people that make decisions with what testing gets approved are either idiots or just don't care. The genetic counselor gave up the argument after going round and round because it was delaying everything. So, there are certain misspellings of genes that have shown a higher incidence or likelihood of being connected with the occurrence of autism and that is what they tested on all of us. I vaguely remember the number to be 5 or 6 particular misspellings. Some were recessive and some were dominant. I won't get into the major details because I don't have the official report back from the genetic counselor yet and doubt I'd be that accurate with all the terminology anyway.
Things I remember about the test results:
Matt and the 3 boys had the same recessive type misspelling, but because I tested negative they are probably only carriers for this particular misspelling.
Reagan, Leo and I had a misspelling for a very common gene for autism that is dominant, but Kaelan and Matt did not. If Kaelan would have had the same misspelling then that would have been a huge finding or connection, but alas he didn't so ???
Since Reagan and Leo had the full genetic testing we learned about a few additional misspellings that have shown possible future increased risks for Reagan and Leo like developing arrhythmia (irregular heartbeat) as adults. Overall, nothing too concerning, but good to know.
Leo loves spinning in our office chairs
Both the genetics doctor and counselor apologized for the lack of answers. Of course, who knows where we will be in 5 or 10 years. Maybe by then they will know so much more and be able to pull out our results and say "AHA! Here is where the autism came from!", but for now they just don't know enough. To put it all in perspective, they told us Leo has 22 genes with misspellings, BUT they don't even know what those 22 genes do yet. They still have a lot of research to do before we get some definitive answers. I'm glad we had the testing done and I think my "Autism and Genetics" post still applies with environment playing a part in all of this as well. The numbers are quite staggering with 1 and 50 being diagnosed and affected by autism according to the latest CDC's report so answers are desperately needed in this ever increasing population because once they have genetic answers then they may be able to determine better treatment plans to lesson or alleviate some of the more challenging areas of autism.
Genetics aside, I have 3 boys who have autism albeit unexplained. Lily most likely has it as well especially with her significant communication delays, social issues compounded by her extreme anxiety (which seems to go part and parcel with autism). Would it be nice to know the reason or the cause of their autism? Yes of course, but my fear is that the genetics of autism are taking away from a more real and glaring matter regarding aging and autism. My boys are 16 years old and we are grappling with what their future holds for them. What are their options? Are there adequate supports in place for this fairly large population as they enter into adulthood. We are talking about a spectrum here so level of abilities are vast. I've noticed because Lily has Down syndrome, has higher needs and deemed lower functioning there seems to be a fairly planned out world for her even at the elementary level. Job skills, life skills and social skills are already incorporated in her and Dasha's school day. With the boys, we are discussing "super senior" (extra year in high school), college options, continued drivers ed training, starter jobs and many other adult activities with much trepidation. Sure, my boys are fully mainstreamed and considered very high functioning by the autism experts, but I struggle with believing they will be ready for the "real world" anytime soon. Their school is having to tweak their schedules with them on the Core-40 diploma track by fitting in two guided study halls and a weekly social group among other things, but the uncertainty is huge. Two big changes this year with the twins are: Kaelan is starting in a Vet Tech program at a career center held at a nearby school district this fall in the mornings (he will be bused to and from), but we are very skeptical that appropriate assistance will be in place and always worry about the risk of bullying against him. While Reagan is possibly going to receive life skills training during one of his guided study halls (cooking, cleaning, budgeting etc). They are definitely having to think outside of the box with Reagan. The bottom line is this crucial area needs to be addressed more in depth and posthaste particularly because of the diverse needs and increasing size of our teenage autism population.