Today we were given the results of our son’s and my genetic testing that was started over a year ago. I’m trying to think of a good joke here, but frankly, this whole situation blows.
We were advised the results were waiting for us in August and took the first available appointment with the geneticist and dermatologist, ie October. I have been feeling a lot of stress this week and attributed that to any number of crappy things that are happening at work, but I didn’t for a second think I was feeling stress about these results. After all, I knew beforehand that nothing would change based on this, we know what is up with Crazy, and having some piece of paper that tells us specifically what is messed up wasn’t going to make it worse or better.
Now, one hour post results, I can feel my heart beating a little more slowly and my head clearing up. When I am stressed, I swear I can feel my blood in my veins and I get very overwhelmed very easily. For example, this morning, when taking the kids to the car, Squishy dropped her Buzz Lightyear doll and I nearly started crying – the bending down and picking it up thing was just too much for my standing up self. Luckily, that craziness has left me, and while I feel no relief over the results because all they did was confirm that both my son and I are carrying a mutated gene, I am glad the finding out about the results is over.
I love my sons doctors, and am grateful for the time they spend with us to answer all of our very unexpected questions such as:
- Will Crazy ever be able to shave?
- Can we get our 2 year old baby girl tested as well so that she can make an informed decision about procreation?
- Will Crazy lose his hair at age 5?
- Does the fact that he is short come into play here, or is it just because one of his parents is elf-like in stature?
As expected, most of the answers were “I don’t know”, although one was “slow down” (after all we have “15 years” before our daughter needs to worry about having children…yeah, I freaking hope it is a lot more than 15)
They explained lots of things to us about how to deal with our son, how we can get the proper care and resources in his school, how we can fight against the establishment who seems to think children don’t need teeth before they are 6 and to be extra aware of the psychological impacts of being “different” that will be accentuated through puberty.
They told us that our son and I are unique in the world because we are the only documented cases of this particular mutation and although we have always considered our son “normal” (a word I hate by the way, but I’m at a loss for a better one right now), it would seem his case is “severe” by genetic definitions.
We are to be on the look-out for everything (a cough, a sneeze, itchy eyes and eating disorders), and have referrals to new specialists because unfortunately, my son can not be treated as a whole, but symptom by symptom.
I continue to believe that we are lucky as parents and that his condition is not THAT serious, but still. He will be different, he will need lifelong care, and eventually he will be confronted with mockery from other children. I’m not looking forward to that in any way. I hated it when I was a kid and I cringe at thinking of him having to go through it too. Luckily, he is so incredibly lovable, he makes friends relatively easily, and he has such a strong personality that I hope it will help him deal with his challenges.
In summary….it sucks, and the results confirm it.