I felt misled

This morning my eye caught a post from a special needs page that mentioned hope for the continual grief special needs parents experience. I chose to read it. Perhaps because of where I am at this stage of things, but I actually felt ‘misled’ when I read it! It felt weird having that thought/feeling about this article.

The truth is, parents of special needs children deal with unique grief from the moment of diagnosis of their child(ren). It’s a different type of grief and many don’t understand it. Parents of special needs children can get struck with grief at any moment and it’s a cycle that happens again and again. They don’t always go through the regular stages and find resolution.

What made me think I was misled was that when the article asked what grief experiences have snuck up on you lately, the answers all had to do with children that were still alive. I was taken aback as I had thought the article was going to be about loss. The loss of a child. Although the article was still true with it’s content, I felt misled.

We as parents have been grieving for our children all along. It’s difficult to explain but there is a different type of grief associated with raising a child with special needs. Some may say it’s not grief, but the reality is that it is a type of grief even if we don’t want to admit it. The grief we experience is sudden situations and/or circumstances that remind us that our child(ren) aren’t able to do certain things as their peers do. They aren’t at ‘level’s’ they should be for their age etc…the list could go on…

To us, our child(ren) is/are perfect. Even with our own imperfections, we are all perfect in God’s eyes. We are who we are for a reason and there is a plan for each and every one of us. Even as parents, we know our children are different, but this is normal for them and normal for us.

I hadn’t really thought about, that to a degree I was also grieving during those years. I never looked at things Patrick couldn’t do as a loss though because there were so many other things he could do even if it had to modified for him to do it. He smiled so much and so often, how could one look at it as grief?

The grief now is SO different. I have those moments when something all of a sudden strikes me and I am in tears, wishing with all my might that Patrick was still here. That I could hear his laugh, see his smile, hold his hand and get a hug from him.

For myself, I feel a loss in my self esteem and confidence. I hesitate to make decisions on my own now, which sounds odd because I had to make decisions ALL the time with regards to Patrick’s life! I’ve gained weight (even watching what I eat) and can’t seem to lose the weight as easily as I could before.  Tired feels like part of my vocabulary now. I feel like I’ve been running non-stop for almost 17 years, and now my body seems to feel like it needs time to recuperate from all those years. It’s frustrating because all these losses I feel, I didn’t feel before when Patrick was here.

I think I feel like Patrick made me strong. He was strong, and maybe he felt I was too and we fed off each other that way, and it worked!  We were a great team together!

As many of you know we started Grief Group a couple weeks ago.  With many being away this week, group was cancelled, but next week I am going to share this with the other parents attending and get some feedback and thoughts on this.

Let me finish off though with this…

Although the loss is huge, the JOYS are many!  Recalling the joy of who he was, how he interacted with others, the way he made people feel and especially how happy and proud he made us feel…that will never go away!!

Focusing on the JOYS makes the loss a little easier each time.  Sharing about him makes the loss a little easier each time.  Some may tire of hearing about him, but we never will!  His impact and legacy has helped and will continue to help many people and for that we are truly grateful!!

Thank you to everyone who has been so supportive, loving, kind and generous.  We couldn’t have done it without you either.  Thank you for being a part of our lives, whether near or far, we love you all!

JOY!

His laugh was infectious! He loved to laugh!!

JOY

Patrick & Bruiser!

Family JOY

Playing with the camera on Patrick’s iPad. He loved seeing Auntie Rosanne!

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.