Ethan's Been Diagnosed

Hi All,

Getting ready to be diagnosed!

Shawn and Leeanne here, after a long 6 and a half months without answers, we received a long awaited call on Friday from Dr. Mark Tarnopolsky.  Mark told us that Ethan's mtDNA results were in and there was a diagnosis. He suggested we meet at his clinic Monday morning to discuss the results.

The weekend was filled with anticipation and wonder.  As the calendar pages turned and Monday arrived, we piled into the car and made the all too familiar drive to Hamilton.  As we entered the hospital, the corridors were quiet, as it happens today is a hospital holiday.  Despite much of the hospital being shut down, Mark had agreed to open his office up for a select group of patients to come in.  We were among them.

-- Hey Dad, you know that people would rather here from me, what are you trying to pull here?

Okay Ethan, the keyboard is yours.

Hi All, Ethan here!  Where were we.  Mark was happy to see me and welcomed us into one of his exam rooms.  We were joined by the same medical assistant that had first seen me in the ER and made that daring run across the hospital so many months ago.  She was smiling from ear to ear and couldn't believe that I was the same little child.

Mark started by reminding us that I was in a very severe state upon arrival at MacMaster and that at a critical point in the early weeks, a muscle biopsy was taken in order to run a number of genetic tests.  The original findings showed I had a severe mitochondrial complex IV deficiency.  After a series of follow up muscle studies, one of which has never been performed in Ontario before me,  a new diagnosis was made.

The results confirmed that I have a mitochondrial mutation known as "Benign Cytochrome C Oxidase Deficiency Myopathy" or "Reversible Cox Deficiency". The DNA marker that contains the mutation is m.14674 in which a letter T should reside however my DNA has the letter C in it's place.  Yes folks I have a 'C' where a 'T' is supposed to be located, and that's what has sent us all on this whirlwind journey. 

Wait... did I hear "reversible"?  Mark continued by explaining that a study was performed that looked at 17 individuals who were diagnosed around the world with the same disorder.  In all cases, the symptoms associated with the disorder included hypotonia (weak muscles), difficulty feeding and breathing in early infancy, and severe lactic acidosis.  Of the 17 cases, only one was fatal due to the onset of Pneumonia at 39 days old, the other 16, showed a spontaneous and miraculous change in symptoms beginning between 4 and 20 months of age.  In each of the 16 cases, by age 2 the children had made a complete recovery with only mild weakness in the shoulder muscles.

Whoa! That's quite the report! Mark assured my mom and dad that the results in my case were the same.  As such, the outcome would also be the same.  As many of you know, I have already shown great improvements in the areas of development, blood-work and muscle tone.  With this new diagnosis, we know now that we are on a road toward a full recovery. 

The plan is now to wean me off my mito-cocktail over the next two months.  The first to go is my Alpha-Lapoic Acid!  And the rest in the weeks to follow. Mom and Dad are thrilled to see this one go as it only comes in pill form and needs to be finely ground into a powder which usually causes fits of uncontrollable sneezing and sinus congestion.

As the medications are removed, we will monitor my behaviour to make sure there are no adverse reactions.  For the time being, we will continue to work at my oral feeding as the expectation is, I will be able to pull out this blasted feeding tube once and for all at some point down the road.  As for my development, I will still be behind for awhile but I am expected to catch up with my fellow youngsters between age 2 and 3. 

To determine the origin of the genetic mutation, my Mom had to have blood drawn today.  Mitochondrial disorders are normally passed on maternally.  As many of you are aware, my mom doesn't do well with blood being taken.  This time, to her horror, Mark was going to be taking the blood himself as the hospital was closed.  Mark commented on her scarce and difficult veins but in the end was able to find one and draw up two samples without incident.  Who knew he was better at taking blood than so many of the nurses we've seen before.  The results will take time and will let us know if Mom has the same disorder and whether it is active or recessive.  Otherwise, rumours of my being a true Xmen may be confirmed. 

The news is incredible.  It hasn't really even sunk in that this journey will have a happy ending.  Thank you all so much more being supportive and uplifting through my troubled start.  We'll keep you posted as I continue to progress!