Can science offer answers?

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On our last (retrospective) post we discussed the whole exome genetic testing that Dr. Innis had sent our bloodwork in for.  At this time Camden was just shy of two and we had several months of waiting to get the results back.  That time actually flew by quite quickly due to a lot of exciting changes in our family.  First and foremost we welcomed the addition of Crew Gregory MacMillan to our family on April 14, 2016.

He came a bit earlier than we had anticipated. Craig was out of town for work the night I went into labor but he was able to make it back in time to be my support system through delivery.  Needless to say I had a lot of anxiety about welcoming our second child due to our previous birthing experience with Camden.  In the end everything went very well and we had a very HEALTHLY baby boy.

Around the time Crew was born Camden started WALKING independently!  He still had a long way to go, his balance was really off and he was unable to walk on uneven ground. We were so proud of him for working so hard to gain his independence, just like he has done many times before, and after this crucial milestone.  Nothing has come instinctual or easy to Camden, he has had to work so hard to achieve what a typical child achieves so easily (now we know from experience with Crew).  This took years of therapy and his determination to get him to this day.  I don’t think I stopped crying for days, I truthfully was doubting that this day would ever come and it did!  This was just another example where Camden has taught us that everything is possible.

As you can see we had a lot to keep our mind preoccupied on during the waiting period for Camden’s results.  On August 3rd, 2016 we received the phone call from genetics.  I was starting to get really good at deciphering what was an appointment reminder call and what was an important call that I needed to stop everything I was doing to answer; they all come from the same number.  This call came from the genetic counselor that we sat with several months prior.  She had the results of Camden’s test.  I pulled into a parking lot and pulled out a pen and piece of paper from my work bag that was sitting on my passenger seat.  I began listening to her talk through the results.  Camden had expressed two genes; one was a WNK3 gene that I had passed onto him and the other was a HIST1H1E gene that neither Craig nor I had passed on.  She went on to explain that they don’t know much if anything about either of these genes.  There were two other people that had expressed the WNK3 but both had significant heart defects and intellectual disabilities amongst other concerns.  They did not think that this gene was an explanation for Camden’s delays due to the fact that I passed this on to him and I do not have any of the same characteristics that are expressing in Camden and he did not have a major heart defects like the other two patients.  She moved onto the HIST1H1E gene; this gene had not expressed in any other patient at the time of testing.  So in the end it seemed we were no further ahead than we were prior to the whole exome testing and we were at the end of the road as far as genetic testing is concerned.  As for the secondary findings, those came back as well and luckily he did not have any of the genes associated with known genetic diseases/conditions.

So from here we were back to Neurology….

Until Next Time,

3 C’s and a K

P.S. I am trying to catch up to where we are today. So much has happened and continues to happen everyday. Life is busy but I am committed to catching you all up soon. My goal is at least one post a week.

1 comments on “Can science offer answers?”

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