If you want to read the article that was referenced in my previous post
about my disorder and the study that was done please visit the following
link:
http://brain.oxfordjournals.org/content/early/2009/08/31/brain.awp221.full.pdf+html
Also
please send your prayers and thoughts on to my buddy Emerson who just
went through various metabolic tests at Sick Kids in Toronto.
Saturday, 26 November 2011
Monday, 14 November 2011
Ethan's Been Diagnosed
Hi All,
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!
 |
| Getting ready to be diagnosed! |
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!
Saturday, 5 November 2011
Mish-Mash Ethan Style
I would like to take the opportunity to thank everyone that is still
following my progress on this site. For every one that has been with me
ever since my first post, and for all the new people I have met along
the way. It has been an emotional journey, full of medical jargon, weird
tests and unclear results. To know that people would take time out of a
busy day to read up to find out how I am doing fills my heart. Thank
you so much for your continued strength and prayers to get me through
everyday.
My swallow study results came back. The study showed that I am still pooling liquid in my valleculae which then spilled into my periform sinuses. It showed that even with a small amount of liquid I do a complicated set of mathematical equations and push a certain amount back and swallow multiple times to clear the liquid. However during this study there were no laryngeal penetration or tracheal aspiration.
The plan is to give me "thin puree" (rice cereal) on a spoon to get me used to texture, utensils, and practice so my mouth is more organized. It is still deemed "unsafe" for any oral feeding as I am still at risk for aspiration, however I haven't got sick or developed pneumonia from my trials before, so this is my reward. My mommy, grandma and daddy have been very patient with me as I have gotten very good at protecting my mouth and tongue. I don't mind the taste or texture once it's in my mouth however I haven't come to understand the object/food relationship. I just don't want anything near my mouth that I can't control.
My mommy and grandma took me to get my 6 month eye check up at my daddy's optometrist office. Since it may turn out that I have a mitochondrial disorder it is very important for the doctors to keep an 'eye' on me as eye disorders are a common symptom of mitochondrial myopathy. I was checked out by 2 doctors to make sure nothing was abnormal. I have medically and cosmetically perfect eyes... so far.. I will need to be rechecked in 6 months rather than the standard 1 year.
Mommy took me to see the Grand River Hospital outpatient dietician to get me weighed as I have been still increasing quickly in size. I was weighed in at 8.57kg which translates to 18g / day over the past 2 weeks. Before we change anything about my feeding I will be weighed again next Friday as I am starting to slow down a bit. We think that it is due to my pukes every morning as my parents haven't been replacing what I lost every day. If I'm still gaining over the norm we will need to adjust my feeds. This dietician believes that my morning puking episodes are attributed to my reflux, as it's not uncommon for reflux victims to puke up mucus every morning. Ewww yay reflux!
This past Wednesday night my mommy and grandma took me swimming for the very first time! Kidsability has a therapuetic pool at their Waterloo location. It is kept at 92 degrees and can hold a maximum of 20 people. I was very busy observing EVERYTHING, in, around and above the pool to notice that I was actually in a pool. I wiggled my legs and splashed a few times, all in all I would say I did very well for my first time! We stayed in for 35 minutes until my mommy said it was time to get out because her hands were getting wrinkly! I have added a few pictures to my photos!
Lastly, I was assessed by infant development on Friday. They do not do percentiles or percentages for 6 months. There are 6 basic yes or no questions in each category. Scored 10 points for a yes and 0 points for a no, 5 points for sometimes.
Here's how I stacked up at my assessment:
Communication: 50/60
Gross Motor Skills: (control of the large muscles of the body) 25/60
Fine Motor Skills: (control the smaller muscles of the body) 60/60
Problem Solving: 60/60
Personal-Social skills: 50/60
My next assessment will be done when I am 8 months old.
I would also like to thank my grandma who has given my parents the opportunity to go out for dinner sans me twice in 2 weeks! It's only been a few hours but they greatly appreciate the time to themselves.
My mommy wants me to add that she is very proud of my sitting progress. I am considered ahead! Me Ethan! Ahead on something! I have been sitting propped on my arms for a while now and have just started to make the adjustment to sitting by myself with my arms free shaking a toy! A few more days and I'll be there!
My daddy wants to mention that as of right this minute I seem to understand "High Five" and I smack his hand. Or maybe it's just because I have this hand in front of my face!
My swallow study results came back. The study showed that I am still pooling liquid in my valleculae which then spilled into my periform sinuses. It showed that even with a small amount of liquid I do a complicated set of mathematical equations and push a certain amount back and swallow multiple times to clear the liquid. However during this study there were no laryngeal penetration or tracheal aspiration.
The plan is to give me "thin puree" (rice cereal) on a spoon to get me used to texture, utensils, and practice so my mouth is more organized. It is still deemed "unsafe" for any oral feeding as I am still at risk for aspiration, however I haven't got sick or developed pneumonia from my trials before, so this is my reward. My mommy, grandma and daddy have been very patient with me as I have gotten very good at protecting my mouth and tongue. I don't mind the taste or texture once it's in my mouth however I haven't come to understand the object/food relationship. I just don't want anything near my mouth that I can't control.
My mommy and grandma took me to get my 6 month eye check up at my daddy's optometrist office. Since it may turn out that I have a mitochondrial disorder it is very important for the doctors to keep an 'eye' on me as eye disorders are a common symptom of mitochondrial myopathy. I was checked out by 2 doctors to make sure nothing was abnormal. I have medically and cosmetically perfect eyes... so far.. I will need to be rechecked in 6 months rather than the standard 1 year.
Mommy took me to see the Grand River Hospital outpatient dietician to get me weighed as I have been still increasing quickly in size. I was weighed in at 8.57kg which translates to 18g / day over the past 2 weeks. Before we change anything about my feeding I will be weighed again next Friday as I am starting to slow down a bit. We think that it is due to my pukes every morning as my parents haven't been replacing what I lost every day. If I'm still gaining over the norm we will need to adjust my feeds. This dietician believes that my morning puking episodes are attributed to my reflux, as it's not uncommon for reflux victims to puke up mucus every morning. Ewww yay reflux!
This past Wednesday night my mommy and grandma took me swimming for the very first time! Kidsability has a therapuetic pool at their Waterloo location. It is kept at 92 degrees and can hold a maximum of 20 people. I was very busy observing EVERYTHING, in, around and above the pool to notice that I was actually in a pool. I wiggled my legs and splashed a few times, all in all I would say I did very well for my first time! We stayed in for 35 minutes until my mommy said it was time to get out because her hands were getting wrinkly! I have added a few pictures to my photos!
Lastly, I was assessed by infant development on Friday. They do not do percentiles or percentages for 6 months. There are 6 basic yes or no questions in each category. Scored 10 points for a yes and 0 points for a no, 5 points for sometimes.
Here's how I stacked up at my assessment:
Communication: 50/60
Gross Motor Skills: (control of the large muscles of the body) 25/60
Fine Motor Skills: (control the smaller muscles of the body) 60/60
Problem Solving: 60/60
Personal-Social skills: 50/60
My next assessment will be done when I am 8 months old.
I would also like to thank my grandma who has given my parents the opportunity to go out for dinner sans me twice in 2 weeks! It's only been a few hours but they greatly appreciate the time to themselves.
My mommy wants me to add that she is very proud of my sitting progress. I am considered ahead! Me Ethan! Ahead on something! I have been sitting propped on my arms for a while now and have just started to make the adjustment to sitting by myself with my arms free shaking a toy! A few more days and I'll be there!
My daddy wants to mention that as of right this minute I seem to understand "High Five" and I smack his hand. Or maybe it's just because I have this hand in front of my face!
Tuesday, 1 November 2011
Halloween Update
I am still puking every morning at my 6am feeding. Mommy was worried about me as I am being fed less than my required amount of calories AND I am puking up. As you remember my doctor believes that it is due to my increased calorie count that I am stabilizing. So less calories means yucky blood chemistry numbers.
Mommy took me to the GRH outpatient clinic to get my blood work last Monday. The nurses informed us that they can not do scalp veins any more as I am older and they start to disappear. So here comes Mr. Tourniquet! The first lady couldn't find any veins, so they called up a second lady. She has done me before without too much horror, albeit when I was much littler than I am now. She found ONE vein in my arms. ONE, well here goes all or nothing.
Results:
pH: 7.37
Bicarb: 23
Lac: 1.8
Weight: 8.39 kg
Hmmm... what? I don't get it either folks! Mommy thinks that maybe I am getting way too much food in the first place because I've been gaining like a beast! I am supposed to be gaining 10-13 g / day and the last 2 weeks I've gained 27g / day. Phone call to my dietician.
Hmmmm what? She says that I'm actually taking less now than an infant my age is supposed to and I'm still gaining twice the amount. Mommy's taking me in to be weighed again on Wednesday. It's all mathematics and science....
Daddy called Mac and found out that my ECHO results were normal.
We're also still waiting for my Barium Swallow Test results to be sent to us. Hopefully they will arrive in the mail this week. In the meantime as a reward for not getting pneumonia , I have started on a few spoons a day of rice cereal. Apparently the results of the swallow test were still not great, however the consistency of rice cereal has been deemed the lesser of the evils for me.
Infant Development will be assessing me on Friday to see where my development percentile is for 6 months. Cathy my physio did a preliminary assessment of just my gross motor skills last week and scored me at just under the 25th percentile. We'll see how my other skills stack up!
Check out my Halloween costumes!
 |
| I did not like this one! |
 |
| So I wore my pajamas instead! |
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