What TYPE of genetic situation is this?

We're posting this blog to discuss informational post about the genetic side of Stickler Syndrome.  

Recently, there been having only been a very few family inquiring about their concerns regarding us releasing any information until it's solidified by Dr's officially.  While others might like for us to do this we are going to continue on discussing this that way we can understand what is going on first hand, share the info with others suffering the same, and perhaps offer the information up to family that might actually want to know this valuable information.  Additionally, our son is our responsibility for which we choose to release the information.  We have never said names nor will we point fingers at family on this blog or publically. Thus, we ask people not to take this personal at this time.  It is all about Colin right now, and taking personal offense to something that isn't about you will not help this situation specially during such a trying time on our family.  We understand this information is fragile which obviously people are getting the information misunderstood about his genetic condition and Dr. findings taken out of context.  Please, do not do this.  Right now we are trying to be detectives and there is nothing wrong with that.  Anyone in our shoes would be doing this.    

With that said.  Thank you for those who helped us with research by going out of their way to ask around and offering up honest health information that has done nothing but help.  We do ask if anyone has any additional health information they're aware of to contact us directly and we will additionally keep it confidential with complete respect.  Any info will help Colin.  It's about him.  This isn't about us or you.  It's about benefiting a little toddlers lifestyle presently and well being as he grows older.  Any info with held will only create more guessing games, more blood work than what otherwise might be needed, neglect to a larger issue that might otherwise been prevented, etc.  

We believe there has been lots of misinformation along with misunderstandings as to how this Stickler Syndrome genetic's run in family.  This isn't a common genetic condition so the information out there is lacking and chances are those who say they've heard of it really haven't.  This blog is to offer clarity as much as what's available at this time.  Here is what we can tell you:

Here is what we know right now:

1. He has been clinically diagnosed with it at this time
2. We've had equally had 2 Dr's now mention that it might come from both sides
3. Hit fits all criteria of SS except for hearing [which tests haven't been 100% completed]
4. We DO NOT KNOW if this is Autosomal Dominant [see below] or Autosomal Recessive. Genetic blood work will next tell us which one of these genes he has. There is additionally 2-3 more Genes they've discovered are rare variants of SS which means if these don't come up, family history is GREATLY important to discover how far back this might go.  Which is where we'd get tested and if it falls within one side or perhaps even both we'd graciously ask family to take the Genetic test for our sons health.  Yes, if you're reading this...that'd be you having to help him by taking a Genetic test to see if you have it and which variant of it.  If you don't we won't know all the outcomes he could suffer from in his life from this genetic disorder.  Bottom line, the further this goes back from even both sides of us having it + perhaps both grandparents having it..it is a mutated variant at that point which means he'd be a rare SS variant than what they normally see.  With out this info, they won't know what to look for or find it.  With holding info means we don't get answers for Colin.  It shouldn't even be IN A QUESTION to help this little guy out!  Don't be selfish, please!  For his sake.    
5. This ISN'T a 'Disease' for which he can recover from.  It's a Genetic Disease which means his Genes have been affected prior which means no change or 'cure' can be done at this point.  Just management of his well being [right now we're up to 9 specialists!].  We've been asked this and this isn't the case.  He has it during the point of his beginning in cell.  Also, despite him not going to 'die' from this or harm to his mental health, his eyes can have Retina detachment which means death to his one or perhaps both eyes even before he's 10 years of age or 20 years of age. His low vision is extremely low that he is on the verge of either not or already within never driving a vehicle on his own..ever.  20/200 is the point of which you're stated Legally Blind.  

WATCH THIS: VIDEO ABOUT BASIC GENETICS & HOW THINGS CAN GET PASSED ON DOMINATE VS. RECESSIVE.

WATCH THIS: WHAT IS A GENE?

MORE INFO ON STICKLER SYNDROME & GENES: http://www.ncbi.nlm.nih.gov/books/NBK1302/

How do people inherit Stickler syndrome?

• Stickler syndrome caused by mutations in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases may result from new mutations. These cases occur in people with no history of Stickler syndrome in their family.

• When Stickler syndrome is caused by mutations in the COL9A1 gene, it is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.