Davie's WES Genetic Test Results

Back in July we had our second round of genetic testing for Davie. The WES. Whole Exome Sequencing. The big one. We had to swab Davie, Brandon and myself for comparison. We were told it could take up to 12 weeks for results, which would have been around Thanksgiving time. Well, we actually got his results one week prior to his fourth birthday. Something told me he would get them by then, and sure enough we got a call Friday morning prior to his birthday party weekend. We waited almost exactly four entire years for what I knew was true. The genetic counselor told me Davie did, in fact, have a rare genetic mutation. Hearing those words did not surprise me. However, what did surprise me is when she paused and said "Wait there's more; Davie has not only one but TWO rare, genetic mutations." This is where my head started spinning. As she started sharing information about these mutations, it all started to make sense. These mutations are so rare that only a handful of people in the world have them. One of the mutations has a few hundred people diagnosed, and the other has around 10 give or take. However, I'm willing to bet that Davie is the only one in the world with both of them together. He's certainly not the first to have two genetic mutations, and he won't be the last; but he is rare in every literal sense of the word. As Sarah was telling me more information (or what little information) she had found on his mutations, I started writing down some of the words she used to describe Davie's results: Extremely Rare.

Ultra Rare.

Exceedingly Rare. You hit the lottery.

One in a million. I simply cannot tell you how many times I looked my husband in the face and said "Brandon, I'm telling you there is not another Davie in this world! There's just not." I strangely felt validated by his results. Before I go into what they are, it is insightful to note that these mutations are de novo. That means they were not genetically inherited by either me or Brandon. It happened extremely early on when Davie's DNA was being written. Odds are if we had another child together, that child would have no rare, genetic mutations like Davie. We waited to share the results because I wanted to process this information and research both mutations as much as I could. Let me tell you, there is not much information on them. I actually reached out to a mother in Iceland whose son has one of the mutations that Davie has. Iceland! We also waited because I wasn't prepared for any questions regarding his genetic test results. We might know the results now, but that doesn't give us answers for his future. There's not thousands of other children like him to compare to, and there are no doctors that can give us much insight to his future. We take one day at a time with Davie. We help him in all the areas he needs help in, and will continue to do what is 100% best for our dude. The great news is Davie is happy and healthy and I foresee no change in that anytime soon. 1st mutation Pathogenic Variant on the KDM6B Gene. This mutation can cause developmental delays, skeletal abnormalities, ASD, hypotonia and hypermobility. This mutation affects a few hundred or more people in the world. It is very rare. This explains Davie's pectus excavatum and other skeletal abnormalities; as well as gross/fine motor skills and probably his congenital hearing loss. 2nd mutation

FBXW7 Mutation. This mutation can cause developmental delays, intellectual disability, GI/feeding issues, palate/throat abnormalities. This mutation is much, much more rare and affects a handful of people across the world.

This definitely explains Davie's respiratory distress, stridor, failure to thrive, choking and gagging, food issues, GI issues, talking, etc.

They BOTH contribute to his moderate hypotonia which affects every aspect of his life inside and out. They both affect cognitive and neurodevelopment.

Genetics suggest that both of these mutations overlap each other and make Davie's symptoms more prominent than if he only had one of these mutations. I find that to be true because after researching and connecting with some of the children that have these separate mutations, they seem to be developmentally delayed like Davie but many are much more advanced in physical and cognitive areas. For years I told every specialist I came across that Davie simply couldn't be put in a box. He never fit the criteria for one box. Well that's because he has two boxes!

While this news was unexpected, it certainly makes sense for Davie. We have no "setbacks" on his future milestones. There is no poor outcome as of now for any of these mutations. That is fantastic news. Davie has never regressed or lost skills up to present day. These mutations will make any and everything harder for him to accomplish, but he will do it. My Davie will do it.