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)


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.


Genetics…finally…drum roll please!!

So much to update on…where to begin…

I know many have been wondering about what the Genetic testing results were.  I mentioned on Facebook that it was too complicated to get into and put into a status.  I guess I almost need to start from Halloween morning when Patrick went into the hospital and spent 20 days to bring you up to speed as to why genetics was brought back in.  We had not seen Genetics since shortly after Patrick was born.

To make a long story short, the primary reason Patrick went in and stayed in for, was pressure build up in his head.  He was very lethargic, no fevers, and had the odd headache.  When the ‘hole/soft spot’ in the back of his head started to swell/puff out, well…that was the final indication of the seriousness and that he had to be brought in immediately.

During the course of his 20 day stay, he had many procedures and surgeries done.  CT’s, Shunt-o-gram, MRI’s, x-rays, EEG’s, ultrasounds, 4 ICP (Inter-Cranial Pressure) monitors…and 2 other surgeries as well were just a few of the things he went through during his stay.  The 4 ICP monitors and the 2 other surgeries all happened within a 7 day period.

It had been 6 years since his previous hospital stay, the longest time span between stays since he had been born.  This was the 3rd time with pressure issues, but was the worst and most serious.  The Neurosurgeon told us that this pressure had been building over a period of time, and his brain miraculously had been accommodating the build up as it had seemed to be gradual.  Had the pressures he had in his head built up in a much shorter period of time or instantly, they would have been lethal to you or I!  Normal pressures range between 7 – 15ish, some possibly up to 20.  Patrick’s pressures ranged from 30 – 90 at times!

Of course, Patrick being Patrick has never been text book.  He’s been writing his own chapters AND books since birth.  I found out a couple weeks ago, when I took him for his anesthetic consult, that the nurse had Volume 7 of his chart with her!  He puzzles the Doctors, makes them think and even gives them headaches….literally for some as we found out.   I had noticed a pattern over the years with his Neurosurgeon and finally mentioned it to her one day while in PCCU (Pediatric Critical Care Unit).  Every time she would speak to me/us about Patrick, she would physically scratch her head.  Every time!  She was quite shocked and surprised to realize she did this, but also went on to explain that whenever she thought about him, being so complicated and trying to figure things out with him and what was wrong throughout different instances in his life, she actually and physically would get a headache!  He is such a puzzle!  From that point on, she really tried consciously to NOT scratch her head!  We got a chuckle out of it.  J

Doctors from the following areas were called and consulted with and also had follow-up with him after his stay…Neurosurgery, Plastic Surgery (no follow-up), Nephrology, Neurology (no follow-up), Ophthalmology and Genetics.

I will do another post to explain what all had been done regarding the surgeries and what some of the consequences of the stay were and the follow-up, including the current issues we are dealing with in my next post.

I will get back to Genetics, the reason they were brought in, what they did and the results of the follow-up with them.

Genetics were brought in because no one could figure out why this was happening or what was causing it.  They thought perhaps maybe there might be some new and updated information about Patrick’s syndrome that would be helpful to them in figuring this out.

Genetics had good news and bad news.  The bad news was that unfortunately there was no further information on Meckel Syndrome.  Still practically all who were born with it died in-utero, during or shortly after birth.

The good news was that there was now testing for his syndrome!  There are actually 7 different types of Meckel Syndrome now apparently!  The testing was being done down in the states.  Permission from the appropriate persons and all the government stuff that goes with it had to be done for it to go.  Of course I gave ours.

Fast forward to February 2011, I finally get a call from the Genetics office that the results are in and that the Doctor would like to see us in person.  I was told it was too complicated to explain over the phone.  The next earliest appointment was a month away from that date!!

To be continued…