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.

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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

Have you read the IEPs by Dr. Seuss?

Shared by a friend on my Facebook, thanks Barb. 🙂

Do you like these IEPs?

I do not like these IEPs
I do not like them, Jeeze Louise
We test, we check
We plan, we meet
But nothing ever seems complete.

Would you, could you
Like the form?

I do not like the form I see
Not page 1, not 2, or 3
Another change
A brand new box
I think we all
Have lost our rocks.

Could you all meet here or there?

We could not all meet here or there.
We cannot all fit anywhere.
Not in a room
Not in the hall
There seems to be no space at all.

Would you, could you meet again?

I cannot meet again next week
No lunch, no prep
Please hear me speak.
No, not at dusk. No, not at dawn
at 5 pm I should be gone.

Could you hear while all speak out?
Would you write the words they spout?

I could not hear, I would not write
This does not need to be a fight.
Sign here, date there,
Mark this, check that
Beware the students ad-vo-cat(e).

You do not like them
So you say
Try again! Try again!
And you may.

If you will let me be,
I will try again
You will see.

Say!

I almost like these IEPs
I think I’ll write 6003.
And I will practice day and night
Until they say
“You’ve got it right!”

Minimize admissions – maximize quality of life

A quick update.  I’m sorry I won’t be going into it all right now, but I am just too tired and need to get to bed.  Patrick’s respite workers are finding it tiring when here as well.

Patrick is being admitted tomorrow morning to hospital.  A Shunt-o-gram is being done and the idea is that during this admission, the G-Tube and possibly the 24hr EEG will be done as well.  This admission will likely be approx 2 weeks, give or take a few days depending on how everything co-ordinates.

Trying to do as much as possible in an admission to prevent the back and forth between hospital and home.

A lot has gone on and been talked about and discussed yesterday and today and I will try to update when I have time while in hospital with Patrick.  I really need to go to bed now.  I still don’t have everything ready for tomorrow!

We welcome all thoughts, prayers, support and hugs and thank you for them as well.  Visitors are especially welcome to come see us.  Message/text/bbm or call to find out what room we are in.

Goodnight my friends, tomorrow is a long day, be in touch soon!

 

Are you ready to talk about it?

The talk.

The talk no one likes to discuss or have.

The talk no one ever seems to be ready for.

How can you prepare for something that makes so many people uncomfortable?

Let me again say, no one is expecting Patrick to not make it through surgery.  We’ve been told it’s rare that children die on the table.  This is still a conversation many people must have at some point or another.  It’s particularly difficult when it’s your own child.

Patrick’s father was up for the weekend to see him (for those who don’t know, we are divorced, he sees him fairly often) and we had a couple conversations regarding what the other thought regarding resuscitation.  Not an easy conversation.

What do you do?  What do you say?  Many thoughts and questions come to mind.

Some will say he has been through enough.  Some will say he’s always come through.  Some will want the chance to say good bye.  Some will ask would he still be Patrick after?

Some family members have shared their thoughts with us already.

How many of you would be able to make that choice for your child? Do you think you would be able to tell if your child is suffering or not?

Could you make the decision selflessly?  It’s difficult as a parent, because that’s not the way it’s supposed to be!  Your child is going to outlive YOU right!?

We haven’t come to a decision yet.  I don’t think either of us are ready yet to do so.  I want to speak to the Doctors once they have the plan and get their thoughts on everything.  I want to have as much information as possible about this before making that decision.

What we do know is that since Patrick’s last cranial vault expansion, his health has not gone back to was it was prior to that.

We are NOT looking at this and expecting a negative outcome!  We are NOT planning on saying goodbye!

We DO have to be prepared and accept the reality of the situation and make decisions in the best interest of Patrick.

How do you think you would/will cope?  What things would/will come to your mind?  How difficult do you think it would/will be?

We’d love to hear your thoughts/experiences.

 

 

 

 

You’re not bugging us!

I know I’m not the only one who experiences what I’m about to write about.  I debated whether to even do it.  Perhaps it’s my mood and everything that’s going on, but I decided to do it.

It’s not just those of us with special needs children, or those whose children have medical issues, it’s a lot of us whose children have been/are ill, regardless what it is and even the severity. It’s any one of us who has had a loved one in a similar situation.

We’ve all experienced this in some form or another.  I’m going to speak from my experience, particularly recent events in the past number of months.

Please don’t get me wrong, we truly and honestly appreciate everyone’s thoughts, prayers, support and hugs.  It feels wonderful knowing someone else and/or others are thinking of you during a bit of a difficult time.

We appreciate the messages, bbm’s, texts and phone calls from family and friends asking how things are going and how Patrick is doing.  It’s not always easy to sit down and write everything, as I’ve mentioned before.  It’s easier to sit down and talk to someone or speak on the phone if they aren’t able to visit.

We love the visits, even if Patrick is fatigued, he usually perks up for a bit when someone is here, then relaxes again.  The visits make us feel like we’re still connected, we get to see a face instead of hearing a voice, or reading words on a phone or computer.

Now here is what frustrates and saddens me.  Many people who you would normally hear from fairly often, seem to go quiet.  Many people are afraid to call or visit.  They feel like they are ‘bugging’ me/us.  Their thought is…she’s dealing with enough, she doesn’t need to have me bugging her too…

Yes, things are busy.  Yes, we are dealing with a lot at the moment.  It doesn’t mean you have to make the choice for us and assume we don’t need to hear from you because we “have enough on our plate already.”

We’re still here.  We’re still us.  We’d love to hear from and/or see you.  I understand some people are uncomfortable being around people who are ill, especially children.  Many don’t know what to say.  You don’t have to say anything.  Just be yourself and talk as we would normally talk.  Ask for updates and/or questions if you like, it’s ok, I don’t mind.  Knowledge is power and helps us understand and in many cases know how to respond or deal to a situation.

And please know…

You’re not bugging us!! 🙂

 

Improving Quality of Life

Many of you are wondering how the meeting with supportive services went this morning.  Here is a bit of a run down of what the plan is and what’s happening.

 

Let me begin by telling you, it was decided this morning’s meeting would not cover any of the difficult palliative issues at this time.  Those talks will happen, but today the priority was pain management and quality of life concerns.

Patrick’s pain seems to be managed fairly well with the medication he’s on.  He’s taking Gabapentin and Valproic Acid.  He doesn’t complain of headaches as often as he had been, which is good.  Tylenol is being used when needed to help take the edge off at least.  It really doesn’t do much for him honestly and thankfully is not needed as often at the moment.

As for quality of life, fatigue is making Patrick’s not so good.  He is awake and alert for periods throughout the day, but they don’t last and he tires easily and quickly and falls asleep.

What is causing the fatigue?  We wish we knew.  The Doctors wish they knew.  Could it be the meds?  Possibly.  Could it be the increased pressure in his head? Sure.  Could it be the seizures?  Again, it’s a possibility.  The fact is, he has been like this before when seizures and medication weren’t in the picture.  Both the seizures and the meds won’t help it indeed.

It’s so difficult to write so much out and so that many will understand.  It’s easier to inform verbally, but I will do my best.  I have considered doing videos instead of writing for updates, I may still, we’ll see.

Fatigue is causing issue and concern with eating and drinking.  He’s so tired, that it’s taking 2-3 hours to get through meals and drinking.  Tiring, not only for him, but for the caregivers as well.  The decreased alertness and increased sleepiness while eating and drinking can become a serious health and safety issue for Patrick.  Not being awake enough to chew and swallow properly can cause him to cough and choke and potentially aspirate.  Chances of pneumonia increase with aspiration, something he can’t get.  We’ve been lucky thus far, but he does cough alot when trying to eat and stay awake enough.  He wants to eat, but it tires him so much.  It’s alot of work to co-ordinate chewing and swallowing, something many of us don’t realize or think about.

A consult for a feeding assessment is being done as well as a recommendation that Patrick have a G Tube put in.  The G Tube will not be to replace his eating, but to help.  He will still eat what he wants and can, but in a 20-30min time period.  Anything after that will be done by the G Tube.

By doing this, the hope is to improve his quality of life, even if just a bit more and hope that it preserves some of his energy and that maybe his awake/alert periods could possibly start to become longer.

A social worker is going to be asked to become involved as well.  As I am usually the one who looks for information and resources for most things I need to know, I’m so tired, I’ve not had the energy to do a whole lot.  As Lisa (support services person) told me this morning, she has no doubt how tired I am (you just have to look at me) and that I am doing a great job and being a great advocate, but it will be nice to have someone else involved who can advocate for me/us and do that extra stuff for me.  Looking for information and resources.  A little reluctantly, I agreed.  Social work is apparently going to get me more information on Kids Country Club (their website is down), a respite for children who are technology dependent and medically fragile.

I hope to hear from Neurology next week regarding the 24hr EEG.  My thought is now that with them deciding to put a G Tube in, it would make sense to co-ordinate the two since he will be in hospital 4-5 days with the G Tube.   Hopefully this will be done sooner than later, so this surgery can get done and he can start recovery and get better.

Lisa did make a point of saying that no one is thinking he will not make it.  The reality of it is though, this a very big, complex and complicated surgery and the risks are great.  Everyone needs to be prepared for ALL the possible outcomes.

I’m tired and can’t think of the rest at the moment, so I will sign off and update again later.

I did get a call this afternoon though from Neurosurgery Clinic saying they wanted a CT today/tonight or tomorrow for Patrick.  He’s having it 730am tomorrow morning.  I’m off to bed to get some sleep.

Goodnight my friends, thank you again everyone for your kind thoughts and prayers! HUGS!