Dyspraxic Journey

Tag Archive: whole exome sequencing

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!

January 19, 2016 Tests & Evaluations, , 0 Read more >

Motor Cognition Lab Testing Results & Nutrition/Supplement Updates

The testing at the motor cognition lab went well. CB was easily redirected and tried to a certain degree on all the activities/tasks requested of him. I got the chance to observe the testing and was impressed with CB’s skills on the verbal component of the testing, his tossing skills, and with some of the comparison components of the non-verbal portion. Prior to the moment of testing, we were unaware that administration of an intelligence test was planned. Many times intelligence tests may not accurately reflect your child’s mental capabilities when they have verbal difficulties and/or motor-planning issues.  Since CB is younger than most of the kiddos they test, there were only 2 tests they administer that applied to CB. One was an intelligence test, Kaufman Brief Intelligence Test, 2nd ed. (KBIT-2), and the other was the standard test provided for evaluating motor skills for a child suspected of DCD (Developmental Coordination Disorder), Movement Assessment Battery for Children, 2nd ed. (MABC-2).  We also completed a parent response test related to his sensory needs. Some positive findings were that the intelligence tests prove that CB’s motor skills are not due to a lack of intelligence and that the researcher was impressed with the progress CB has made since we last talked. We knew that CB is an intelligent boy and that his motor-planning issues are not related to a mental deficit. It is nice to see that reflected in the testing, as well. The results of the motor test still conveyed a severe issue with motor skills, but the researcher felt very optimistic about his suspected prognosis. She wants to test him again around his 6th birthday and she thinks the gap between his skills and a typically developing child’s skills will more closely align. She also thinks CB will eventually be mostly indistinguishable from his typically developing peers. This is all fantastic news! It doesn’t mean we are able to lay off any of his therapies or diet restrictions but what it does mean is that the therapies and diet ARE HELPING!

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October 8, 2015 Allergy, Diet, & Supplements, Tests & Evaluations, , , , , , 0 Read more >