When what you prepared for isn’t what’s happened

I know it seems like forever since I’ve posted. Life has been busy with Patrick quite ill. He is on his 2nd admission since January and we are now heading into week 7 of this one. He is not looking at being able to go home till some time after the end of May.

Last year, after Patrick’s Wish Trip and before Christmas, I finally did something I should have done years ago. I created a ‘fan page’ for Patrick on Facebook. It was an easier solution for people who follow him and see what he’s up to and how he’s doing.

I just wanted to post this quick update that we are still here and hanging in. Patrick has been quite seriously ill. All the updates have been posted on his page if anyone would like to follow along.

https://www.facebook.com/notbythebooks

Watch for more…thanks everyone for your support!

Have an awesome weekend!!

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Easter Seals Helps Children with Disabilities – You can too!

With 3 days to go till we do our rappel down One London Place to raise money for Easter Seals, we are falling a little behind on our required goal to participate.

Take a look at the Drop Zone website for more information about all the different drops that have happened and yet to happen!

You can take a look at some photos of previous Drop Zones!  Some amazing photos!

DSCN1162

That’s ME on the right last year coming down the building 🙂

Please support Easter Seals and help kids with physical disabilities succeed!

Everyday people are getting out of their comfort zones for Easter Seals kids!

The 3rd Annual Easter Seals Drop Zone London will take place Thursday, September 12, 2013 challenging participants to raise a minimum of $1,500 in pledges in order to rappel down the 26-storey building at One London Place, 255 Queens Ave. Everyday people will become “Superheroes” for a day by raising much needed funds for kids with physical disabilities, and challenging themselves in an exciting event that is both safe and fun!

Please support Easter Seals and help kids with physical disabilities succeed!

Having always appreciated and been grateful for Easter Seals and their support for the many things my son Patrick has and uses.

We have built a team this year and want to return the favour so to speak and do our best to raise the minimum $1500/pp (and more if possible) and do our part in raising money for this amazing organization!

This will be my 2nd time doing this, and a first for Mark & Dave on our team, but being able to support something that does so much for so many other children/families, it will be our honour to participate!

Please help us reach the minimum donation goal of $1500/pp to be able to participate in this wonderful event and opportunity to give back!

Thank you so much for helping us be able to participate and give back to something so great!

Here is the link to pledge online.  Ask/Share with your friends, family, bosses & co-workers!  We need your help!!

Thank you so much!!

One week to Drop!

Training is tomorrow!! We become super heroes NEXT Thursday and rappel down 26 stories to raise money for Easter Seals!

They have been such a great help for Patrick over the years and we need this program to be able to stay around to help ALL families with children with disabilities!!

This means a lot to me!

Please don’t hesitate!! You can donate up till next Thurs!  PLEASE help me reach my goal so I can participate next week!  Any amount will help!  Donate online by clicking the link below or writing a cheque made out to Easter Seals Ontario.  Cash and email money transfer is acceptable as well.  Email me for details.

CLICK HERE TO DONATE!

Thank you so much!

Come on out to One London Place next Thursday and watch all the Super Heroes do their part for Easter Seals!!

Hugs my friends!

How did you start your day? (updated)

First video blog! 🙂 They will get better I promise! 🙂

London Drop Zone 2012Click the ^above^ picture to watch this blog post!

Have you ever thought about what exactly you do in a day?

Have you ever thought about how easy your life is?   Easy you say? My life easy?

Take a moment and think about what you did this morning when you got up and started your day.

You got yourself out of bed – you went to the washroom – you brushed your teeth – you had a shower – you got dressed – you made coffee/tea – maybe you had time to read the paper or check emails before jumping into your car and heading to work, the gym, shopping or where ever.

Does any of this sound familiar at all? I’m positive some of it applies to many.

Now…imagine this…

You’re lying in bed awake, ready to get up.  But wait…you can’t!  You have to wait for someone to come help you get out of bed.

Perhaps you’d call out to someone to come help you…but wait…you’re not able to speak.  Maybe you use an augmentative communication device to speak for you, you might be able to use it to help you get someone.

Now…someone has arrived to help you get up.  Maybe they even need to help you get dressed.  Perhaps you need help using the washroom.  If you need help for these things, you’re going to need help in the shower as well, right?

What if you couldn’t eat anymore?  What if you could, but it wasn’t recommended you do, due to health risks it would cause if you did.  Imagine being fed through a tube in your nose or your stomach.  Not being able to taste food anymore!

Those a just a few thoughts for you to think about at the moment.  Stop and really think about it.  What if that was you?  How would you feel?

Now let’s see, based on the above questions, let’s surmise that you aren’t able to walk, so you would likely be in a wheelchair.  (Let’s make a little side note here that there are many types of disabilities and not all of them require use of a wheelchair or other assistive devices).  Let’s also assume that because you can’t eat orally, you have a g-tube with which you get your nutrition.

Did you walk to your car or to work or the gym today?   There are literally thousands of people who weren’t able to.  Have you ever thought about getting around in a wheelchair?   Think about some of the places you go and take a visual as to how accessible they are?  Are there ramps?  Automatic buttons for the doors?  That are in reach?  Are the doorways wide enough for your wheelchair?  Are the things you use everyday within reach for you?

Seems like a lot to think about so far doesn’t it?

On the other side of the coin so to speak, what if you were the one who was helping that person everyday?   Circumstances are different for everyone and every situation it’s true, but suppose you had to get someone else ready to for their day before you could get started with yours.  Oh wait, this is how you start your day.

What if you were the parent and this was your child?  There are thousands of families that do this everyday!  This is their life!

How would you cope/handle things?  Do you think you could?   Without complaining?

Imagine all the things you will have had to learn and the all the things you’ll continue to learn.  All the Doctors, therapists, nurses, teachers, suppliers of equipment and things your child needs.  All these people remember are multiples!! In other words, there are a number of doctors/specialists, there could be anywhere from 1-5 therapists, multiple nurses and teachers and a limited number of suppliers for your equipment and supplies needed.

Think about work.  Is your boss wonderful and patient enough to let you answer those calls from the school where you might be needed?  How about all the doctor’s appointments and tests/procedures your child may have?  What about the hospital stays?  Staying 24/7 at the hospital with your child because no one knows your child like you do!  No one there would understand your child’s communication either.  Who is the best advocate for your child?  YOU!!

watch the video for the rest….

Here is the link for Easter Seals Drop Zone 2013 🙂

http://my.e2rm.com/personalPage.aspx?registrationID=1810209&registrantPreview=1

Thank you so much!!

Genetics again – How interesting!

During the admission earlier this year, genetics were brought in again due to something seen on an MRI Patrick had done while in hospital.

 

As most already know, Patrick was diagnosed with Meckel Syndrome.  At the time of his birth, there were no tests for this syndrome.

About 3yrs ago when Patrick had his cranial vault expansion, genetics was brought in to see if they could shed some light on what was going on with Patrick.  Was there any more or new information regarding Meckel Syndrome?  Was there anything else they could think of that could possibly be the cause of what was happening with him?

We found out then, there were now tests available for Meckel Syndrome!  I signed papers to give permission to have his blood sent for testing.  It had to be sent to the states and would take up to 3 months approximately for results to come back.

Fast forward a few months to the results of those initial tests…

There are actually 7 different tests!  Meckel Syndrome can be found on 7 different genes now.  When the results came back negative for all 7, we were quite surprised!!  This wasn’t the end though!  The Genetist was shocked on some of the results and wondered how he was going to tell us.

Apparently, 2 other damaged genes were discovered in this process.  Guess what?? Neither of these had ever been seen or documented before! Ever! Anywhere!  So we were asked to sign forms to take more blood so they could store his DNA and send it for more in depth testing and that the government would cover the cost of any and all further genetic testing for Patrick.  (It will likely take years before anyone finds anything out about these 2 new damaged genes.  We’ll be lucky if it’s in our life time)

Done!

Fast forward again to earlier this year…

As I mentioned, after an MRI during this admission, something was noticed on the scan and genetics was brought in again.

In one of the pictures from the MRI, you can see something in Patrick’s brain that looks like the shape of a tooth.  A molar tooth!

 

The Molar Tooth Sign

It’s NOT an actual tooth!!  The easiest way to describe it, is type of malformation in the brain that just LOOKS like a molar tooth, hence its name.

The molar tooth sign is a classic sign/symptom for Joubert Syndrome.

Joubert Syndrome is another rare, recessive syndrome that hasn’t been around very long, and they are still doing research to find out more about it.

 

Meckel Syndrome vs Joubert Syndrome

Both of these syndromes, as mentioned, are rare.  They are recessive as well, which means they don’t appear very often.

There is no history in either myself or Dave’s family of anything like either of these syndromes, but the genes are carried in the families and can present themselves whenever nature decides to.

*Let me just interject here, that every one of us carries thousands of bad genes!  Every one of us has a 25% chance of having a child with any of those thousands of ‘bad’ genes.  It also takes BOTH the sperm and the egg to be carrying those same genes for the syndrome or whatever to make itself known.  In other words, both the sperm and egg that created Patrick carried these particular genes.  If only one of them carried them, Patrick would likely just be a carrier and not have any issues at all.*

Research and information show both Meckel Syndrome and Joubert Syndrome ‘share’ some common genes!  And while Meckel Syndrome usually has a not so good mortality rate, Joubert’s is good!

There is continued testing being carried out for both these syndromes, and over the years, more is expected to be learned and found out about each.

The shocker from blood work taken earlier this year for genetics?  Now positive for one of the genes for Meckel Syndrome and negative for Joubert!

So what does this mean?

Patrick has the Molar Tooth Sign!  That is classic symptom for Joubert!  What do we tell doctors and everyone else who asks about this now?

The Answer is…

Patrick DOES have Meckel Syndrome!  And while so far the tests for Joubert say negative, he DOES have the classic symptom for Joubert!

Patrick has Meckel Syndrome AND Joubert symptoms!

That’s what we tell people now!

Did you get all that?  Please feel free to ask questions if you like.  It’s not the easier thing to understand for sure.

What’s been going on?

Yes, it’s been a while since I’ve done an update.  A lot has happened in that time frame as well.  There is much to update!  I will do my best to get those posted over the next few weeks.  Thank you for your patience!

Let’s begin with where we left off; Patrick was going in for some tests and being admitted with the understanding that some procedures were going to be done.

For the sake of trying to get caught up on everything in a short time span, I will just be updating as an overview of what happened.

Patrick did end up having the upper end of one of his shunts replaced as it was blocked.  During the course of this surgery, another issue came about, in that when trying to put the bottom ends of his shunts back in his abdominal cavity, they had a difficult time on one side due to so much scar tissue on the inside of his abdomen.  When they finally thought they found a spot, a huge gush of fluid came pouring out!  There were able to catch most of it (enough to almost fill a coke can we’re told) and send it off to the lab for testing.  A nearby general surgeon was brought over to see if he would take a look inside Patrick’s abdomen to see if he could see where this fluid came from and if there was more anywhere.  He brought all his equipment, scopes etc over to Patrick’s OR room and did an exploratory basically.  He found nothing that might explain about this fluid.  He did locate and area that they could safely and easily re-insert his shunt and all was closed up and finished.

Patrick also did have a g-tube put in.  He had to have a ‘temporary’ tube in for the first 3 months till it healed, then was replaced with a ‘mickey’ which is replaced every 3-4 months now.  What a huge difference to his quality of life.  He’s been able to get his nutrition without it causing him to be any more tired than he already had been.  He has adapted well to it and asks to be hooked now.  What a trooper!

After a few weeks in hospital and getting used to the tube feeds and learning about it all, Patrick was able to go home in February, with a number of follow up appts.

Follow ups included:

Neurosurgery – usual follow up after surgery and admission

Nephrology – usual follow up for blood pressure and blood work to keep an eye on kidney function and potassium levels

Enteralfeeding – follow up for g-tube and any feeding issues

Dietition – make sure recipe for feeds was working for him, getting him all he needs to have and making sure it was balanced enough to as not to cause increases in his potassium etc…

Neurology – follow up for the seizure medication Patrick is on and how it’s working.  Since this time, we have been currently decreasing it and he is almost completely off it now!

A consult with Toronto Doctors at Sick Kids Hospital was put in as well with their plastics team for their thoughts on another cranial vault expansion .  That appointment was for Oct. 10th, 2012.  (update later)

Over the course of the next few months with follow ups and blood work it was discovered Patrick’s blood sugars were dropping within 2hrs of a feed.  They should go up.  So endocrinology was brought in as well for follow up appts and blood work.

Well, there is a start…more to come…

Thanks for your patience and everyone’s support and love for Patrick and our family!! We truly are blessed to have so many wonderful people in our lives.

Thank you!

HUGS

Supportive Services = Palliative Care Team

I had posted a bit of an update the other day on my FB status.  It was in response to a family member asking for the latest update on Patrick. Based on reactions to my status tonight, it is quite clear, not everyone saw/read it.

I apologize.  I should have posted the update IN my actual status or here on my blog.  I’ve been so tired to do any length of updating, it’s just much easier to talk to someone in person or on the phone.

Here is the update I posted the other day…

Waiting to hear from Neurology to see when the 24hr EEG will be. They have told Neurosurgery to hold off on the surgery till the seizures are managed. I left a message for Neurology this morning. Supportive Services (Palliative) called this morning and are coming to the house on Thurs to go over things etc…

Patrick is doing ok. He has bouts of animation, but still tires easily. Dietition has been in and he is needing to have 2 supplements/Ensures a day to make his caloric intake. OT is coming out this week to discuss energy conservation for him.

As the day goes on, he tires more. A nurse comes to the house 2x a week. He will get his stitches out today and will need a port flush in the next couple weeks.  (stitches came out yesterday, port flush next week)

CCAC has given me information on services I can hire to come in at night if I decide to use a PSW or Nurse to keep an eye on him through the night. If I go this route at some point, it will be a nurse coming in, not a psw.

The money I have for respite can be used to pay for that service as well. It will just take those ‘hours’ away from the girls. Im going to call VON and see if there is additional funding somewhere so I don’t have to use those funds if I decide it’s necessary to have someone come in at night.

 

I used the term most are familiar with, perhaps that was a mistake, but it has also made people realized how serious this surgery will be.  Supportive services will be supporting us leading up to, during and after the surgery.  They will also be preparing us for things in case the outcome of the surgery is not what everyone is hoping for.  No one wants to think negatively, but we do have to deal with the reality of the situation as well.  Neurosurgery thought having them involved was a good idea for this.

In all the surgeries Patrick has had, I have never once thought he would never come out.  I will maintain that thought through this one, but as I mentioned, I have to look realistically and be prepared for this one.  This is a complicated and very long surgery and one that no one, even the Doctors are looking forward to.

I have my moments with things.  I’m tired.  I miss seeing friends and family, but very much appreciate when they stop by for a visit here to see us.  It makes me feel like I’m still connected to the outside world and provides a nice distraction, even if only for a little while.

We appreciate all the thoughts and prayers everyone has been sending.  Those who have dropped meals off because there are days I’m too tired to think about cooking or remembering to take something out to cook, it’s truly appreciated! Thank you!  Our schedules have been off because of Patrick’s tiredness, so meals are not always at meal times.

Thank you everyone, I will try to keep things updated, but please don’t hesitate to call or message or come by for a visit if you’re wondering how things are and have not seen a recent update.  I am tired.

HUGS to those who need them and thanks for those sent back! 🙂