Genetics Mumbo Jumbo

Genetics can be quite boring and many people would shut down if they read some of the stuff that I have had to research or look through - I know my brain checks out sometimes when I start reading about deletions, mutations, and translocations!  

Luckily for us we have a great genetics team on our side who are wonderful at translating all the big words and 'mumbo jumbo' as I lovingly call it!

Our genetics journey isn't going as fast and furiously as it once was.  For a few months there I was feverishly doing research and gathering the boys' medical records to be sent off to all the places they needed to go.  I worked hard and fast on it for some time, knowing that once I got it all sent off I could sit back and relax (so to speak)...watch the results come rolling in (tee hee, big dreams I know!)

I know some parents in our shoes would not look for answers at all, or would find no reason to.  Some parents in our shoes would search furiously, all the time.  We fall kind of in the middle - we search, but it is definitely not something at the forefront of our to-do list.

Why we decided to look for the gene and/or genes causing the boys' condition...

Originally Jason and I began looking for genetic answers to help us in deciding whether we would have more children in the future... and well, we all know who has popped up since then (Mr. Surprise Baby!).  It makes us think that maybe it was a part of a sign telling us that we may not get answers, or maybe genetic answers shouldn't be what defines our decision on whether or not to have more children... Who knows!  All we know is our original reason for searching for answers has been kind of thrown for a loop - but we still continue to pursue answers!  

So we continue to search for answers because...

-  for the of sake of our curiosity!

-  it may help us in learn new ways to increase the quality of the boys' lives

-  for my siblings (who have yet to have children) and our future children..it may be of help to have more specific answers, if not for us, for them.

We are not pursuing genetic answers because we haven't accepted the boys' condition...an answer would not be life changing in any way.  We just figure, if there are avenues out there for us to approach getting answers, then we might as well use them!  We have never searched for an exact diagnosis or a defining gene because we thought it could 'fix' the boys.  We do not see the boys as needing to be 'fixed'.  Nor do we see them as a diagnosis.  We just figured it would not hurt to pursue answers...it may open some doors, and it may help other families like ours.  We certainly do not stress about the fact that we have no answers to what gene has caused their conditions.  

Currently the boys' DNA and MRI's are being studied at the Walsh Lab in Boston/Harvard.  The reason the boys were enrolled into the research program at Walsh Lab is because more than likely the gene that has caused their condition has yet to be discovered.  The general consensus of all geneticists that we have talked to is --> we are probably dealing with a gene yet to be discovered, a gene that affects both proliferation AND migration of neurons.

We have learned a lot of new tidbits about the boys from the researchers at the Walsh Lab - and that alone makes it worth working with them!

What the researchers said about the boys' MRI's...

-  The gyral or folding pattern on the brain is too smooth and simple.

-  It is not complete lissencephaly (which would mean there are NO folds).

-  They have microcephaly with 'variant' lissencephaly or pachygyria or also called Microcephaly with severe simplified gyral pattern (MSG) which means there are some folds but they are bigger and fewer than usual.

-  The back part of the brain, the cerebellum, is smaller than one might expect based on the rest of the small size of the brain.  This is a condition referred to as cerebellar hypoplasia (hypo means too little and plasia means growth).

-  The myelination is delayed/diminished - this is the white matter, which is the insulation that covers the nerves and brain cells and helps them relay information more quickly.

-  The corpus callosum is normally formed, but thinner than one would expect. This is the part of the brain that allows for connections between the two hemispheres.

These are some of the findings the researchers have listed from their MRI's.  The findings can be nonspecific but nonetheless they are still features the researchers keep in mind in trying to come up with a unifying diagnosis.  All these tidbits also help them get an idea on what genes to start looking at.

The boys are not a 100% fit for any of the genes/syndromes/disorders that the researchers have seen.  

What makes the boys unique is....

- They have had seizures since the minute they were born, and have continued to have almost constant ones ever since.

-  They have a combination of microcephaly and lissencephaly that is fairly unique.

The good news is there is an exciting & new technique for testing DNA called exome sequencing.  This is the latest and greatest way of finding single gene mutations.  The boys' samples are next in line at the Walsh Lab to be tested with this new technique!

So, all in all, there is progress being made as far as genetic searching goes.  It is all behind the scenes, and a lot of our work as parents is done!  We have been given no timeline from the researchers and that is okay - we know it could take years to find answers, and we know that we may never get answers.  We are okay with that!  At least we can say we tried!  And we know the boys' samples are in great hands when it comes to research!  We also continue to do testing through the University of Chicago as well (as new gene testing still pops up there every now and then).

There, I think I have covered all the new stuff ;)  Off to snuggle my wee little ones now!!