Blood Work

I had been puking since last Sunday, but hadn't been showing any other symptoms. So mommy called my pediatrician on Wednesday. The Dr. told her to take me to the hospital outpatient clinic where an on-call pediatrician would see me. So along with grandma we packed up and headed out.

Surprise, surprise! Blood work had been ordered! 3 nurses and 40 minutes later I was screaming my head off, turning red and sweaty, and I was trying to get mommy to save me, but nothing I did could make her. The nurses got nothing. I was finally picked up and given to mommy so I could calm down, I was trying but they kept checking my head for veins. They then tried looking for veins in my arms and foot, I had 3 tourniquets on me and 3 heating pads, all the while I just kept screaming I was so scared! They called an IV nurse who apparently is "really good", however she's the one who stabbed me multiple times before and didn't get anything but me screaming bloody murder.

She used the touniquet on my arms and legs, at this point I was beside myself with fear, my arms and legs were bruised and purple, and my head hurt. Suddenly I heard "Can I just take him home!" My mommy. The IV nurse looked at her and said "So you're refusing then!?" and mommy looked at her and said "I guess I am." The IV nurse got in such a huff and yelled at the other nurse "So I can leave then!" and then had some choice words outside with the nurse about my mommy. I don't care what they said, I just get to get away from this massacre.

The on-call pediatrician came in and said "I hear that you want to leave". Mommy explained that since I've been screaming for 50 minutes and not calming down the results will be elevated anyway, and won't determine if they are high because I am sick or because I am worked up, and that we will try again tomorrow. He said "I guess you're not too concerned about him then." I looked at mommy and could see the rage in her eyes, this man is lucky he was scrunched as far away from us as possible in the room, or he would have been put through the wall. He then tried to crack my undiagnosed case, by asking if my parents were healthy? were they related? Oh yes doctor... I think you got it! Sorry I get my sarcasm from mommy... Of course they are not related and the answer hasn't changed from the first million times they have been asked.


Enter Friday..... (my 5 month birthday)

My head pokes!

2 pokes later, although they both fell out causing my blood to spurt everywhere, they had enough for my lactate, but not enough for the blood gases, but ran them anyway

pH: 7.52                 
bicarb: 19
(These results don't make sense)

Lac: 1.8 (my best since I've been home!)

Mommy used some of her fantastic powers of deduction and came to the conclusion that I am puking due to my omeprozole suspension. Turns out the pharmacy used generic tablets instead of my regular capsules.. Since she got them to make it again on Thursday I haven't puked! Here's hoping that that was the cause!

Mariya informed mommy that the lab is redoing my skin test. Who knows how long this will take. Mariya said that it's been difficult to get the results from them... meaning they will tell her nothing.

I think the results are:
1) something they haven't found before
 or
2) Serious
or
3) both

However I seem to be doing well considering my history. We're hoping they have some sort of explanation soon.

Dr. T and the Baby Ethan Project

Daddy took the day off and joined mommy and me for my appointment with Dr. Tarnopolsky at Mac. We got underway with plenty of time to spare, unfortunately enroute I decided to have my morning poopies. I was thus changed in the trunk of our volkswagen just off of highway 6.

Soon we arrived at Dr. Taropolsky's office where we sat down to talk about my progress. Dr. T took a few moments to assess me, played with my arms, checked my reflexes and my head control. He said my reflexes were good and my head control was better. He'd planned to set up testing for my nuclear DNA however the funding takes 7 months for approval so he had cancelled this and went with the mtDNA test instead. The results are not back as of yet, but should be within the next couple of weeks.

Dr. T. believes that I show symptoms of reversible COX deficiency.  As my preliminary mitochondria test showed that I am only 8% efficient in the 4th stage.  He informed us that any one that is that severe should die and not stabilize like I have. However, this particular phenomenon has only ever been recorded twice in the history of medicine. Dr. T informed us that I will likely undergo another muscle biopsy in a years time to see if the percentage has increased.

Mommy asked about the glycogen that was found in my muscle, he said that it isn't unheard of that when the body starts to shut down it starts to store glycogen so it would make sense that there was an increased amount in me. He also mentioned that my symptoms are not consistent with glycogen storage disease. He increased my medicine volumes to coincide with my weight gain. He has taken me off Vitamin C (however my parents think they will keep me on it as it will be good for my immune system). He has also eliminated riboflavin as it is really only good for complex 1. Many of you that have been following me from the beginning know of my turbulent relationship with this vitamin and I am overjoyed to be rid of it!  However, he has added vitamin E to my mix, and mommy tells me that it tastes worse than the riboflavin, which she didn't think could ever be possible.

Dr. T cautioned my parents about my weight gain, he is concerned that because I am considered low tone it will be harder for me to move my muscles. This is in direct conflict with my metabolics team who want me to pack on the pounds.

We then decided to visit some old friends at the general peds ward. We ran into my old OT Kate, who told us that she will get in touch with my current speech therapist about trying me on 5mls of formula from a bottle.  She thinks its absolutely crazy to keep putting 0.01mls in my mouth... it won't get me too far. We saw our resident from the ICU, Serengy, and my nurses Deb and Janine who were all surprised to see me.

We could not leave until we visited the genetics department so I could see Mariya! She was happy to see me and couldn't wait for a cuddle!  She informed us that my skin biopsy results were not back yet.  However, the lab had found something interesting in the skin cells, they could not release the results to her yet as apparently they do not understand the results as they don't make sense.... They are not sure if it is due to how the skin cells were cultured or if it is in fact my cells.  They are going to hold another meeting and decide what the results mean and possibly ask for another skin biopsy.  We should know either way by the time we go to her clinic. Mariya does not believe that I have a mitochondrial disorder and mommy just thinks that I could be an X-Man.

We decided to proceed on to the Welland Staples store to see my friends Dayna and Nicola.  They were very excited to meet me in the flesh and had a big present full of soft blankets and stuffies for me.  They along with Tish have been working on "The Baby Ethan Project".  The project will invite Staples stores to run dress down days for each weekend in October.  The purpose of the days will be to spread my story throughout the Staples family and to collect some money to help support my medications, syringes, and other hospital costs.  I can't say thank you enough for their efforts, it truly is overwhelming to have their support.

We stayed in the store and played in the copy centre for an hour or so until it was time to eat.  We enjoyed the comforts of the store lunchroom and met some more new friends before hopping back in the car and high-tailing it home. 

this Morning I Cried...

A poem for Ethan.


This morning as I look upon you,
I do not look with sadness but with overwhelming joy.
Despite this I cry.

This morning as I look, you glance back at me,
I see into you, and know that you see back into me.
I see the strength we give each other.
Despite this I cry.

This morning as I look upon you, I marvel,
what a curious boy you are, what an innocent face you have,
what a love our family will share.
Despite this I cry.

This morning as I look upon you, I laugh,
the smiles and giggles we have shared,
I remember them all, and I know this is only the beginning,
Despite this I cry.

This morning as I look, I lay a hand upon you,
you look at me, we don't speak, we simply smile.
Because of this I cry.

I don't cry out of worry, fear, sadness, despair, uncertainty.
I don't cry for the future, or for the hardships in our past.
As I look upon you again, you reach out for a toy,
I do not look with sadness but with overwhelming joy.
Because of this, Ethan, my son, I will not cry.

With all the love a parent can give,
Your Father

Kidsability

My new hat and boots from Grandma,Uncle Brian and Paige

Mommy, Grandma and I packed ourselves in the car for another clinic assessment.  This time it was by the team at Kidsability.  Mommy used to do a lot of printing for Kidsability and was excited to see the new facility that just opened in Kitchener.

We were greeted by Kayla the social worker that has been appointed to my case.  She took us to a small room which had one big gym mat!  I was a little overwhelmed as mommy put me down to "play".  I had new surroundings and toys to look at and there were 3 new people.  The PT, Pam, the OT Lori and Kayla.  I was so disoriented that I started crying until Mommy picked me up and put me on her lap so I could look at each person individually to size them up and try to figure out what they were all doing staring at me.  Mommy and Grandma continued to answer their questions about my lengthy history and what I have been doing with my other therapists.  The therapists continuously made the comment on how alert, observant and perceptive I am.  Pam pointed out that my head is a very nice shape!  I was put down on the mat again were Pam and Lori played with me, rattles were placed in my hands and this strange long tube was making noise, after a bit I started to get a little agitated!  Then I was placed on my tummy and that was it!  I screamed and screamed and screamed.  Mommy was heating up my food so Grandma tried to calm me down, but I was having nothing of it.  I screamed and screamed, my face was turning red and I wouldn't stop.  I was passed to Mommy who quickly excused us and walked down the hall singing Katy Perry, I immediately calmed down... I just wanted to hear California Girls.

After I had calmed down I was placed in a yellow bumbo seat and the therapists continued with their assessment. 
Pam mentioned that my motor skills were consistent with a 2 month  old (which we knew already with Dave's assessment of the 10-25th percentile from Infant Development).  However, she couldn't get over how observant and alert I am.  Lori agreed with mommy and grandma saying my arms are weak but once someone places my arm my hands and fingers are actually quite good.
Pam also said that I would likely be the kid that plans strategically on how I am going to do things, she said that this will be a good thing as it will help me when trying to learn gross motor skills.

I freaked after a while sitting in the Bumbo and mommy grabbed me and rocked me to sleep while feeding me.  The conversation continued.  I will be placed near the top of the waiting list as "high priority" and my mommy will be called with an estimation of the time it will take to get me in to the facility.  Grandma wants to take me to the swimming pool that is in the Waterloo facility, however they were unsure if we can use the facilities there. 

In other news:
- Mommy got a quotation for my syringes $2500 a month!  I will need to get a full time job just to pay for them!  Looks like we will need to continue to wash and reuse them, however we can get it down to $1250 a month by reusing them. Ahhh syringes!!

A mommy's worry

When I was contemplating having a baby, everyone told me babies are a lot of work to look after and that life as I knew it would not be the same.  I joked around that date nights and days that we would chill with friends playing video games would be over.  When I found out I was pregnant, I was terrified. I had figured it would take more time, and the reality hit me like a brick wall. How was I supposed to become someone's mom in just 9 short months? People would talk to me about parenting and what I should do when... That there is no better feeling than to be a new parent.  What they neglected to tell me was, what do I do when my baby is terminally ill? What do I do when the doctors tell me that when I finally leave the hospital, my baby will not be with me? What do I do when the doctors tell me my baby will die within a few days? What to decide when I am asked whether or not I want my baby to have life saving procedures when he deteriorates? These are the things that I should have been told. 
No parent should be in that situation yet I find myself here. Luckily my baby is stronger than I am, and gave the middle finger to me and his doctors and somehow found his way home. The feeling of not knowing what is causing him to be this sick, trying to answer people when they ask me why the doctors haven't figured it out yet, what's wrong with them? His case is not so black and white. When I was in school I learned enough of biochemistry enough to pass the exam and then promptly forgot what I had so madly tried to cram in my brain because I thought I would never use it after that.  Maybe I should have had a biochemistry degree instead of a sociology one. Oddly enough it would have been more useful in my everyday life, funny how that happens.
I worry that he will not get to enjoy the foods that we have taken for granted. I feel guilty when I sneak a drop of Similac Advance on his tongue so he can taste what I am pushing into his belly. I worry that he will never know the feeling of being hungry, and the satisfaction of finally getting to bit into food, feeling it roll down his throat and always entering into his digestive tube on the way to his tummy. I worry that he will never feel how refreshing it is to drink a gallon of water on a hot humid day. I worry that I will be in the hospital with him getting his tummy tube replaced after he's ripped it out. I worry what time of day that will be, before a feed, during a feed, after a feed.. how many calories will he have, will he have enough so that his body doesn't shut down. I worry that he'll never sit, walk, roll, hold his head up, run, or jump. I worry that he won't be able to learn, talk, see or hear. I worry that one day one of his organs may just explode. I worry if he gets a cold, will it cause him to go to the emergency room, or worse. I worry that he will choke just laying on his play mat. I worry that he feels my fears for him. Most of all I worry he won't wake up.
Before I go to bed every night I kiss him tonight and whisper in his ear, "Sweet dreams my little one, please wake up in the morning". I toss and turn until the morning when my husband walks into the room holding our son, I frantically look to my son's eyes, they are open, he is saved for another day.
-Ethan's mommy

Infant Development

Mommy, Grandma and I had our first appointment with Dave from Infant Development.

I was having a late nap when he dropped in to see me. In the meantime he had mommy fill in an assessment that asked questions pertaining to the development of a 4 month old.  My overall assessment was ranked at the 10-25th percentile.

I woke up and I was put on a mat so that Dave could observe my "play" and he ticked off the positions I was doing on a chart.  (Prone, supine and side lying).  This gives him a baseline of what I am doing presently in those positions.  He brought a bag of toys and took out a weird horse ring with a turny string to monitor my tracking skills.  He let me hold onto miniature maracas, I liked these as finally I could hold onto something in my small.. yet manly hands!

Dave will come by once a week, however next week he is fully booked so I will see him in 2 weeks.

My feeds are now up to 140 mls every 4 hours.  I am spitting up on every feed though, so we think my anti-reflux meds need to be increased, however my pediatrician is off until Tuesday!  I am trying to make it up to my recommended feed volum of 150-160e, but it's been hard with my spit ups.

Dr. Tarnopolsky's office informed us that the government has approved the funding for the mtDNA testing, so the results of that testing should be back in about 4 weeks.

In other news, apparently I am learning cause and effect relationships as I will just cry to see if my mommy comes and gets me.  She does, but I think I am driving her a little crazy, I am 4 months old and it's how I learn.

Grandma gave me my first ABC book!  I love the colourful pictures and I try to turn the pages, somewhat fumbly while grandma reads with me.

Mommy and Grandma are going to the psychic fair tomorrow for some fun!  Hopefully these psychics say some nice things about me!  Mommy will have an update on the weekend about this!