A little update about my Mito disorder

Yum Yum!

 Today is the one year anniversary of being discharged from McMaster Children's Hospital. I left with a prescription for 12 meds, tube feedings for an hour every 3 hours, head pokes for blood work once a week, I could barely lift my arms and I had a prognosis of only living for a year. I feel the strongest and healthiest I've ever been! Mommy took me to my favourite place to celebrate. McDonalds! We went to the Kitchener market food court on King Street.









A little update about my Mito disorder

Dr. T had informed us that there was research being done at the Limeridge Mall (in Hamilton). A few months ago researchers collected 2700 random samples of blood donated by shoppers to test for my particular Mito mutation. (My mutation of a T being a C). They found that out of 2700 samples, that 3 people had this particular mutation, however these people had no symptoms. This research suggests that this mutation isn't as rare as they had once believed it to be. So then what makes the severe symptoms of this mutation so rare?

The research is starting to point to other DNA mutations passed down paternally. Mommies pass down the C mutation, and daddies pass down some other DNA glitch and voila you get an offspring like me! However, how does one start looking for whatever that DNA catalyst is, when those daddies have no symptoms and there's only been a handful of mes in the world! Good luck researchers :)

An update of my new tricks

My $2.99 shoes

Since my last physio session with Pam I have been on a steady learning streak. In addition to crawling up a ramp, I have learned:

- To pull myself up to a stand in my crib
- To turn and reach from the couch to the table (still only a minimal distance, if it's a big gap where I can hardly touch I fall over, my balance is still pretty wonky)
- I can maneuver the corners while cruising at the ottoman, although I have to be pretty distracted
- I have been pulling myself up to my knees on furniture
- I can clap
-I can say maaaaa (although it's not directed at my mom, I just make the sound)
-I can go on my tippy toes when I'm holding on to the couch

Yup folks all these are new within 2 weeks!

An update on Feeding

I've been doing pretty good with my formula. I am down to mostly 4 sippys a day. I take them without too much effort, which is a win for me! However, I still hate solid food, I don't touch it and occasionally will freak out when food is on my tray.  I foresee this being a long process, but like everything else I just do things the Ethan way. No one knows what order I'll do things in or at what time, it's just me.

Spider Man and Mount Everest

Today was my second last appointment with Pam. She was extra sad today as time spent with me is quickly coming to an end. I made a deal with mommy that I should show Pam my most awesome stuff. And I delivered.

I crawled up the ramp 4 times all by myself! Pam was holding the creases of my knees to make sure I didn't fall backward, but I did all the forward propelling motion all by myself. Pam told me last time that I should be practicing crawling up a ramp because there's less gravity weight coming down on me. She was right it's much easier to figure this out on a ramp than on a flat surface! Put me on a flat surface and I get all angry.

Mommy took a video of the second time I crawled up. By the 4th time I was just like Alain Robert! Mommy tells me he's the French Spider Man (A fast climber!)

 

My session ended off with some standing holding on to some dryer pipe and putting some felt balls in a hole. I was distracted by the large pipe and my need to make sure I put all the balls away that I didn't notice that no one was hanging on to me and I was doing it all by myself. I am not used to holding onto something that is not stable (like a person or couch!).

The only comment Pam made was that my ankles are weak, so mommy has to go and get big boy shoes for me so I can practice standing with shoes on to try to gain more confidence in cruising.
All in all Pam was extremely proud of me today!

Weigh In and Wedding

Friday, the day arrived for my weigh in. Grandma told Mommy that she was going to come with us to make sure Mommy didn't "lose it" if I got a bad result. Ha, so much faith in me!

We checked in to the Children's Outpatient Clinic at Grand River Hospital, and waited for Lynn, my dietician to arrive. As we were waiting, Patty, one of the nurses came over to talk to me. I haven't seen her in a few months, and it was nice to "talk" to her again without her having a giant needle in hand to stab my head!

Lynn arrived and showed us to a room where this was going to happen! Mommy undressed me while Lynn retrieved the scale. I was placed on the scale for scrutiny! I absolutely hate this part, and began screaming at the top of my lungs as soon as I sat down. My result rang in and I had gained 3 oz. SOMEHOW. Mommy and Grandma were extremely surprised because I have been eating LESS than before my last weigh in. How could this be? I guess stranger things have happened. It was agreed that my formula concentration should change a bit, so now it's 3.5 scoops of formula to make 6 oz instead of just 3 scoops. So over the day I will get 72 more calories. Lynn said just a little could make all the difference. So we'll try this and my next weigh in has been scheduled for the end of June. Upon leaving, Patty made a joke about how I likely knew I was being judged today and saved up all my poo just for today! Hmmm...


As a reward Mommy decided to take me to McDonalds, you see because I love FRIES! Yum Yum! I even tried a few little pieces of Grandma's chicken nuggets. I didn't seem to mind as long as I was given the side to touch with the crunchy batter!

McDonalds

After McDonalds my Mommy had to get everything ready for us to go to a wedding this weekend. My Aunt Heather (Mommy has been friends with her since Grade 7) was getting married on Saturday to Sean and Mommy was the Maid of Honour. Or I guess in this case MATRON.. Mommy doesn't like this word as it makes her sound old. So MAID it is! Daddy was going to be my keeper at the wedding. HELP ME!

We got to Newmarket Friday evening and we were lucky enough to stay with friends that flew in from Vancouver! Thank you Mr. and Mrs. Rudkin x2! ;)

I was put to bed, although I had plans of my own and did not fall alseep until 3:30am. I was playing on the bed learning new tricks! The morning came early has Mommy had to be at Heather's hotel room at 7:30am for hair and makeup application. I was lucky she was nice enough not to yell at me in the morning.

Wedding day came and I got to see my Auntie get married FINALLY! I would've been a lot happier but it was hot outside and I desperately needed a nap. I was happy to hear that the Bride's sister, Louise had come by in the morning and turned on the air conditioning in the hall to something resembling freezer cool! I guess it takes a Mommy to know these things!

While pictures were being taken Mommy informed Daddy that he should take me for a drive in the air conditioned car where I'd likely fall asleep, then he could bring my car seat into the hall if I was still sleeping.

This next part angers Mommy, so I am going to say this as a whisper.....
Mommy came out of the hall at one point and saw Daddy talking to a group of people while my car seat was beside him. Remember Saturday, it was 35 with the humid x... Why was I sitting there in the hot hot sun? Mommy took a peak at me and saw that I was sleeping, covered in a heat rash and my cheeks were red red. Mommy calmly yelled at Daddy and said she was taking me into the hall. She put me beside the head table where I finished the rest of my nap in the air conditioned hall. *sigh*

Dinner began and I was so irritable. I did not want to sit down or be held. Remember, I was being held all day and hadn't had the chance to scoot anywhere. I was lucky I had Tabitha (1 of the bridesmaids), she had an iphone and downloaded Katy Perry. I sat content on mommy's lap with Tabitha's iphone in front of my watching Katy Perry sing and dance oblivious to what was actually going on around me! I was soooo happy in Katy Perryland!

Daddy delivered his speech on Mommy's behalf and people thought he was funny. This is why she didn't make Daddy feel worse about leaving me to char like a piece of bacon outside in the heat! He would have made her speak in front of 90 people and she would have died.

Unfortunately as the evening rolled on, my Katy Perry left me and I was unhappy again and needed to go to bed, so we had to make it an earlier night than we had anticipated. But all in all I enjoyed my time at my first wedding!

Sunday we got back into town and my rash covered my legs, feet, arms, ears and bum. I am not bothered by it but it looks really bumpy! On top of my heat rash, I am sooooooooooooo CONSTIPATED! I haven't pooped in 5 days! I keep trying and I grunt and hunch over.. I even tried side sitting but nothing was working. Daddy gave me a warm bath to ease my pimples in my bum (TMI I know but hey!) while mommy pumped my tummy full of water... The only blessing for this stupid PEGasaurous! At 8pm I finally had a poo. It hurt so bad but it was finally out. It was glorious! It was the size of my foot. Yuck!

Last night I finally had a nice uninterrupted sleep. My first in a week.

The day before Dooms Day

I had my physio appointment with Cathy today. I am not sure if I had mentioned that at my previous Cathy appointment I went into a temper tantrum and didn't come out.

So mommy was a bit worried about me. Cathy had to change our usual appointment slot as she is now at a nursing home during my usual slot, so we've been trying a few different times to see which works well. I really miss my noon time! Ah well. Last time we tried later, which did NOT work. This time we tried earlier. Mommy had to wake me half way through my slumber, but at least I got a little sleep, so she was hoping I would be okay.

My session started off okay, however as soon as my hands and knees portion of the session came I freaked, and fell into one of my toys. Can't these people tell that I want to do what I want to do, when I want to do it. At that time I did not want to hands and knees, I just wanted to sit and play by myself not bothering anyone. I screamed through about half the session, but I did the exercises this time.

We did a few more exercises and mommy took a couple pictures of me in various positions. She's mean.

practicing side sitting

Wheelbarrow weight baring

Is it over!?

As a reward mommy let me go to a restaurant in uptown Waterloo, The Bauer Kitchen. We met my buddy Theo, his mommy and his grandma there. It was Theo's third time at a restaurant. His mommy usually doesn't take him places where he'd have to eat, as it's a chore just trying to get him to eat too and gets pretty stressful.  However, he's been doing decently with the solid foods as of late, so why not try eating out! 


 We were pretty good kids at the restaurant and lunch went over well. I ate a few of Theo's Grandma's fries, and I think I put too much in my mouth... gagged... and puked. All my hard work gone in a split second! *sigh*  Mommy is excited that she has some left overs... which she just realized she left in the car...

My weigh-in is tomorrow morning at Grand River Hospital (GRH). Wish me luck!

Dr. T and Mr. E

Today was my follow up with Dr. Tarnopolski. If you remember at my last appointment he had taken me off of my last mito meds and wanted to see me today to see if I was adjusting okay. Apparently some of the meds take a month to get out of the brain. Now the plan was to give me a full workup of blood level testing. 

We got to the Neuromuscular clinic and there must have been about 15 people in the waiting room. Only standing room was left.. and that's not a good thing for a muscle disorder clinic! Obviously they were running behind. Our appointment was for 11:15am, which runs over my lunch time... great!

We finally get called into one of the rooms at 12:30pm, Dr. Tarnopolski's  assistant Heather informed my parents that there were toys on the bookself that they could get for me to play with. My mom thought "Strange they had never pointed out this fact before". Well, we found out why! It was another hour before we got to see Dr. T.  

Mommy, Me, Pengy, Daddy

I was getting pretty cranky waiting for all this time! I did not want to take my formula as it was cold! My parents tried to play an episode of Special Agent Oso on their blackberries, however being in a concrete cell did not help and the episode was constantly doing this thing called "Buffering" So I just got more irritated. Mommy tried distracting me by taking pictures.

Finally Dr. T came into our room and apologized for the wait, apparently everyone he saw today was complicated. Don't worry Dr. T, I've been there! 

He tested my reflexes and said they were normal, picked me up testing my tone, and said I had TRIVIAL hypotonia! Sweet, I hear that's good!

He asked my parents if I was walking yet, NOPE but I am doing some slow shuffling down the giant ottoman in the loft. Mommy said I can now sit up from laying down on my own, he said that this was excellent. He asked if I was saying any words yet, NOPE, but I am making a lot of sound. He said that's okay because I am only 13 months and am a boy. He was informed that I have been off my tube since April 24th, however I had lost 13oz. He said if I lose more, maybe try putting me back on the creatine, since it won't hurt anything. He was impressed that I haven't had any regression! And is excited to talk to his buddies at the Mito conference next week about me. Since I did not experience any regression off my meds, no blood work is necessary! He had seemed to forget about blood work for mommy and daddy, however neither one of them piped up to remind him!

My next followup appointment with Dr. T is in 6 MONTHS! I must be doing well!

Dr. T and Mr. E

Daycare Decision #1

Mommy got a call from one of the daycares on Tuesday (J.W Gerth YMCA) informing her that there was a spot for me starting in September. Mommy asked if they knew that I had a Gtube. Nope! and they've never heard of it before, What's that! Mommy was glad she didn't call it my PEGasaurous, they would have been even more confused.

The lady said that they had a girl that needs insulin shots and the parents just came in to show the staff how to do it. So it would be the same.... Yeah kinda not the same. *sigh* My stupid PEGasaurous!

It has just occurred to me that I haven't shown my fellow viewers what my tube looks like...12 months late but at least I remembered. So here it is in all it's glory!

PEGasaurous

Now, there's usually an attachment that goes on the end to attach the tube to a feeding pump and/syringes, the additional tube is added because it can easily be changed if and when the ports or tube snaps. We can't do it with the one you see because this part is always attached to me, inside my belly. If this one breaks, it's to the ER with me to get a new one put in and hopefully my stomach doesn't heal up.. which we are told happens in 2 hours! Which ER do you know moves quicker than 2 hours?

My parents took off the extra tube attachment, because they've been instructed to not use my tube for at least 1 more week, to see how I'm doing.They took it off because the extra tube makes my PEGasaurous basically the size of me and it just gets in the way.

Anyway back to daycare. She told mommy that they will hold my spot until Friday morning. Mommy told Daddy, and Daddy said, whatever you think. Hmmmm Mommy didn't like that too much, a big decision like this. So it came to this morning and Mommy had to make the call back, the decision she made was that I am not ready right now and to place me back on the wait list.

I heard Mommy crying, so I pretended to be asleep.