Whole Exome Sequencing Test – Upcoming Appt
Back in October, our family visited the geneticist again to discuss the whole exome sequencing test and to perform blood draws from the entire family. We had made the decision to move forward with this testing for CB. I mentioned this in a previous post at http://www.dyspraxicjourney.com/genetics-testing/. We set the appt to get the results for March 7th. Well, we got a call last week that the results are back and that we can move the appt up to this coming Friday. Of course, Olem is out of town for work on Friday. So, we had the dilemma regarding whether I go by myself or wait for another appt. The geneticist counselor stated that at this point they don’t have any other openings till March 7th. If I go by myself and get the results now, then we will have them for our next visit with our holistic practitioner and for CB’s 5 year pediatrician appt. We opted for me to go on Friday and for Olem to be on speaker phone from his conference.
I am honestly scared and a bit stressed. I know I shouldn’t be and I try to calm myself down, but I know I have been mentally impacted since the call from the genetics counselor. So many questions circulating through my mind, and I keep repeating the mantra “Stay Calm. He is the same son you fell in love with. This doesn’t change who he is. This just helps us potentially understand him better and discover other ways to help him reach his full potential.” I hope I don’t break down crying during the office visit, but we can’t necessarily control these things. A girlfriend of mine who has children with an extremely rare disorder recommended that I get the results before the meeting so I can formulate some questions beforehand. I plan to request them tomorrow. Maybe this will help? I don’t know. My guess is that it will take weeks, months, and maybe longer to fully process the information the geneticist will share with us. I understand that certain markers will be shared that are irrelevant, potentially some with unknown relevance, and most likely some with scary current & future potential.
I used to consider myself strong and fully capable. Lately, I feel definitely lacking, less than, and at times unstable lately. I don’t know if it hormone-related, lichen planus-related (an autoimmune condition that is currently impacting my gums), stress-related or most likely a combination. I am hoping I can remain strong and be properly prepared to accept what I hear and to be as open and actively present as I can possibly be during the office visit. Wish us luck!