Shopping for glasses tomorrow.

Tomorrow will be a day to try out all this late night research [the only time we've had to try to accomplish these extra details in our lives] and try on these eye glasses we've scouted out for our son.  Since he has no nose bridge because of Stickler Syndrome and an abnormally flat face with hardly any  nose there is nothing virtually holding up his current glasses that are covered under our insurance.  The ones he has either hang off of his nose so that his eye lashes aren't being squished otherwise they're flat in his eyes squishing his eye lashes so he can't even see through his eye lashes and they poke him back into his eyes creating more itchy scratchy eyes than is needed.


http://miraflex.info/

There is a few brands we've found in our research that caters to the shape of his face.  We hope that it helps other parents out there with the same frustrating research that we've been spending hours to complete on getting answers on eye glasses that fit the best for our little guy so he's comfortable and can see properly.  Additionally, those basic pairs insurance covers don't have enough on the nose even with nose pads to fit his face comfortably.  We need something that has more substance and thickness to this lack of bridge on his nose.  Myself, being the research guru has spent hours trying to find a list of brands and models along with prices on different websites. Tomorrow will be the day to trial these glasses at local custom stores and mall stores like Sears.  However, our final decision most likely will fall within online stores due to free shipping + $$ sales + most likely no sales tax.  For one pair of glasses that is bound to cost us $100-200 each not even including lenses..those little extra percentages really do add up quickly!

Here are a few brands that is excellent for kids like our sons:

• Mira-Flex
• Lafont
• Fisher Price

Additional glasses that we've found to keep an eye on to see if they have ones that will fit:

• Pex
• Veggie Tales
• Paul Frank
• Easy Twist 
• Liberty Sport
• Modern optical
• And more!

We will post our follow up tomorrow reviewing different glasses to the shape of his face and nose bridge.  I will try to take pictures as well to document how it looks for other parents to get an idea of if they're on the fence and need a visual idea to reference.

The main one our eyes are set on is: 
Fisher price teddy bear & ducky...however, we are not sure what they look like in person and if they're rather girly or look toddler boy like.  

Here is one of the main ones we're looking at trying on him: http://www.simplyeyeglasses.com/eyeglasses-sunglasses/frame.php?frid=100808


We normally don't like to ask, but right now we need help.  Colin needs every ones help with the gift of health, genetic answers, and vision health.  If you would like to sponsor Colins eye glasses [or additional services needed such as Genetic testing, and we're also looking to invest into a real electronic 88 key keyboard for him so he can start to find comfort in music even if or not his vision goes out on him at a young age with this degenerative disease] you can send us a sponsored amount to cambryn@gmail.com paypal account.  Write us a note as to what you'd like for it to go towards.  Otherwise we will use it towards these expenses or set it aside in a special savings account to use towards s main purpose for him related to his health or needs.    

We appreciate everyones time & support during this trying time for our family!

Uncomfortable day..this isn't a new normal.

Just another uncomfortable day for our little guy.

Fatigue. ..and a long blog.

Today was not a comfortable day for Colin. Ibuprofen seemed to help a little. But very fussy, a long nap happened when he normally doesn't nap, and just laying where ever he could. He didn't even want to go to the play area today but stay in the car cart at the store. He was fussy once again with tags in his shirt, his pants, his pj's, his shoes felt 'like needles on his feet' and screams, and screamed when we went outside at the nursery at Freddies to get some plants because it was too bright and hurt his eyes. This has always been a common thing, but subconsciously being patient with him..not knowing the underlining cause of this all these years, until now. He's not sick either, this has a common occurrence for him.

Extreme fatigue is a common occurrence for some one with Stickler Syndrome.  But also pain all over their bodies.  Such as in their bones, joints in particular.  This is one of the reasons we typically do a bath every day or every other day in these situations as I'm extremely fond of Hydrotherapy and all it can do for the body with pain management in the joints or anywhere.  We always put in a small amount of Epsom Salt to pull out the toxins in his body and to release some pains.  It seems to have him perk up and within minutes he's racing out of the bath ready to run around and all excited and happy.  But today, he didn't even want a bath.  He kept telling us "My body is all sleepy all the time all day today" a few times.  

We even went out to eat for breakfast [yay for Shari's breakfast coupons!] just the 2 little boys with us since the 2 older were at school.  He didn't want to sit in the seat.  He preferred to lay down or crawl under the table to try to get comfortable by laying on the ground.  Obviously, we didn't approve so he finally found his way next to me laying down on the seat.  Extremely fatigued and even talking was also exhausting him.  Mind you, he was this way from the moment he woke up til the moment he was supposed to go to bed.    

We've been playing phone tag with all the new specialists calling and determining our new mutual schedules to rotate appointments between all of our daily schedules.  This is extremely limiting with our jobs + college + kids [anything].  But we do the best we can with our schedule we have available.  2 of the Specialists will be the a Physical Therapist [he will need this for the rest of his life for pain management, as well as prolonging the inevitable juvenile degenerative joint disease.  I just wish they could do that for the Retina degenerative disease aspect of Stickler Syndrome to!  

Also, he will be seeing in the same department of this Physical Therapist that is also connected to the Occupational Therapist to deal with the Sensory Processing Disorder.  This aspect of it is, humbly speaking, extremely testing and exhausting part of our day.  We have to find ways to help him calm down, avoid certain things, breathing exercises, child yoga, etc.  After finding SS, we discovered all these things going on with him finally created answers.  It's a blessing but of course we wish we could just take this Genetic condition away from him 100%! SPD in hindsight has seemed to be there since day one but only progressing further within the past year.  It's very unpredictable what one day might bring to the next.  I'm thankful I'm the type of person to welcome improvising!  Nothing in parenting is ever set in stone, it's improve.  We all just do the best we can and strive for the best.  Patience is an added virtue for this to!     

A recent study I recent about preserving Retinal health came from an eye specialist studying Retina's and vitamins and how they both are involved.  It appears high doses of Vitamin A & E seemed to prolong the % greatly with those who suffered detached Retina's vs. those who still had Detached Retina's while on this high amount of vitamin intake over a prolonged period of time.  While we do believe food is medicine we're catering to more micro-nutrients than macro.  That way things are easily digested into his body. 

 One high problem with this also, is IBS which I've been told has been more of a lack of digestion within the body because of the bodies inability to properly break things down within his stomach.  Macro nutrients only takes longer and with more Micro he is seeking to complain less of tummy aches and is having less explosive diapers [potty training is HARD when your child has a depth perception problem and thinks he's going to fall off of the toilet and gets in an extreme panic thinking he's falling!  I'm sure the bigger he gets the more reassured he'll be of this foreign situation, so we pick our battles!].  But also vitamin intake we've increased just a smudge by recommendations.  He has extra D gummies, Carlsons Fish oil [manufactured within the USA and only fish oil with out toxic heavy metals found inside, as they test their products!], and of course 2-3 multivitamins per day.  He asks for water mostly to drink during the day, but occasionally enjoys juice and milk.  I prefer fresh juice from a juicing machine vs. bottles so that is 70% of the time what he gets is fresh micro nutrients through juice.  When we're consistent he does seem to have less fatigue days.  For example, today we didn't take our daily intake of these things until later in the evening.  When he took it in the evening his energy level peeked back up a little but still complained of being in pain.  

Plenty more I could blog about and right now there is many things to juggle that are begging for answers.  For now I will leave it at that and get some sleep for the night so I can take on tomorrow.  

Colin needs new glasses: Care to sponsor this need? 

I plan to write about our next pair of glasses we're seeking [$170 each].  We also need to get him additional transitional lenses as well as sunglasses with prescription lenses.  They're not covered by insurance but none that are fit his lack of nose bridge so his eye lashes get squished into his eyes in order for glasses to properly fit and work.  Thus, we're going to have to pay for a pair out of pocket next.  We are going to see if anyone is interested in sponsoring this for him.  If anyone is interested you can send the funds to our paypal account cambryn@gmail.com to help us with this need.  It is giving him the gift of vision which with this degenerative disease is offering him the gift of seeing things he can not see but 1" from with out glasses. 

Thank you for reading our blog about our sons Journey with Stickler Syndrome!

ERG is the next step.

What is the next step for Colin? 

Once again, my apoligies for most likely poor spelling as I'm just in a rush and don't really want to edit the whole blog at this time.  It's rough around the edges, so hope you can read through the imperfections.  

Vision and Phone tag.
We've been playing phone tag with the Neuro-Ophthalmologist since last week to discuss what's the next steps with Colin's vision care.  Today at the grocery store I had to juggle this phone call between that blissful one hour of free child care you can get while you shop at their store.  Oh, how we do count the simple blessings in life!  1 hour free child for us to catch a break is enough of a blessing for us right now.  The 2 ladies we always see are amazing with him, and aware of his vision problems in case anything happens which puts us at great ease.  With that said..I'm just going to call the Neuro-Ophthalmologist the 'eye Dr' to simplify things. 

Many appointments.
There is many aspects that are having to be addressed with this Stickler Syndrome and all that it entails.  Not to mention having to find a minimum of 4 specialists just to get the other kids screened.  We're not up to close to 10 specialists now.  That means, between all of Colin's MANY appointments we'll additionally have 4 appointments for each of our children.  My oldest most likely won't need it.  But, if they all do still get screened that means we're going to need around 12 appointments just for the other 3 boys, and Colin himself combined with all those will equal 21 specialist [that's counting if only one visit is needed!].  Our Summer is already filling up quickly with the massive amounts of appointments needed.  I won't even say the amount of appointments Colin will need to maintain his vision health plus his body as a whole just to manage pain, comfort level, vision health..the list goes on.  We'll be getting to know these specialists by first name basis, which we already have started to call them by their first names now!

Retinal screening.
A huge focus right now is to get an ERG under anesthesia for Colin.  What is ERG?  ElectroRetinalGram: VIEW MORE DETAILS ON WIKIPEDIA ABOUT THIS The eye Dr once again reiterated that she is completely baffled by this light vision problem he's experiencing.  Briefly, I reminded her of the vision problems he's been experiencing such as where you're eye would go small in the iris, it goes completely wide in direct sunlight and visa versa.  I'm going to capture these problems on camera to offer her examples of what exactly we've been dealing with for almost 4 years now.  She has discussed Cone deficiency in the retina, however, there is certain criteria and situations which does not prove this possibility.  Of course, for some one who has pulled out Stickler Syndrome out of her hat where as other Dr's and other eye Dr's give us a shrug each visit..gives us no doubt in her abilities to determine an answer to this situation.  With that said, within the period of a few weeks we're going to be completing a follow up exam with the Eye Geneticist to over see our current Eye Dr's exam on Colin to measure his eyes once again to see if there is anything they might of missed, and to see if the Eye Geneticist can reveal anything new related to the Retina since he/she specializes in this. They will additionally get a base image for Colin's retina to keep an eye over in the case of any additional changes might arise.  

Relief to have people taking us seriously.
After years of feeling hopeless we've finally created a full medical support system.  Perhaps those years were just intended to create some sense of normalcy within our insanity of trying to get ahead in life with careers and recovering from crashing careers from rough economic times.  However, going forward we demand answers after feeling so helpless for years and it's so refreshing to hear the eager voice the Eye Dr had on the phone with me today.  You could tell her well educated mind just spinning with idea's and eager to help us progress answers further.  That, is exactly the person I want to handle my sons care!  Proactive, no reactive. 

This is something we haven't had, but have been seeking within our free time [ha..when is..?] and admittedly has been difficult to juggle between all the rest of our daily schedules to juggle over the years.  After asking around at Conners new school we had excellent feedback to this Pediatrician in particular who diagnosed this ladies daughter just by seeing her in person immediately called to have a lump on her neck surgically worked on when they were only there for an annual check up.  Later, the Dr' among one other specialist the lady claims to have told her that if she hadn't gotten that surgery the day of her node would of burst creating more problems than was needed down the road.  We heard 3 other ladies dish about how amazing this Dr was so hands down we switch all of the boys over into his care.  It was appearance with the Dr' appointment Logan had with him that he treated the kids with respect as individuals and not just 'another task' to complete.  Walking in to greet him like a Dr would with my own exam!  It was amazing accomplishment to finally have the kids in good hands.     

Lots more details to discuss or write about.  But for now that is the main thing  is the ERG about to be scheduled.  I can't explain how helpless we feel right now.  It's great getting answers but I do wish I could just switch my vision with his so he could see better than I.  It takes a lot to get my down and to be a negative person, but this is definitely a trying time.  We're just taking it one day at a time.  However, after years of being told he's okay but to get home and have enough light enter the room with his eyes only to check out as we call back to hear the same "It's probably just his quirk, nothing appears to be wrong with a basic eye exam".

Many people always questioning it and asking us numerous times why we don't have answers..constantly..as if we haven't been already trying with many people to get answers only to not get anything but "he's okay, it's just his quirk."  He's not okay! He was never okay since a baby!  We know that.  They tell you to talk to the kids Dr, we did, and got no where. We talked to many eye Dr's and no one wanted to put glasses on a toddler or baby.  What is wrong with people who think this way?  See those kids every week if you need, help them out!  Get kids their glasses, they need them to prevent problems and to get the gift of vision!!!  I want Colin to see as much as he can right now, which means he can play on the iPad for hours since it's one of the few things that caters to his vision but also allows him to repetitively educate himself while also making images larger for him to see better with this iPad vs. other tablets out there.

Years later, hearing the numbers on his exact vision being 20/250 with out glasses at the stage 3 with -9 & -8 eye glass prescription..which means he's so low vision that beyond that 20/200 we've found is the cusp for legally blind and glasses do very little with the point of no surgeries will ever correct this type of vision.  With glasses, he is 20/150 which is still Visually impaired, however, 50 away from Legally blind with glasses.  Break that down further to him only seeing 1 inch field of vision with out glasses, with his glasses he's lucky if he can see 10 feet right now.  With light involve...I am confident as is the Eye Dr validated...he can not see at all.  It's like his eyes check out entirely.  With that said, we are grieving this information for the sake of our poor son.  It does make us feel so helpless.  It's a shock, and something new to go through the motions of dealing with.  We've had people concerned but also who remind us to not make him feel less of a person.  Never will that be our intentions, but we're also grieving this new info.  Reality, that we've always known deep down, has come to surface for us.  It's okay for us to feel this way. 

Our goal is to make him as independent and self sufficient as possible despite it all.  In this situation, I'm reminded by this lady with Down Syndrome who had come into the shoe department to buy a pair of shoes from me.  She had come in knowing exactly what she wanted since she had a pair already on her own feet.  By an estimate, she most likely was in her 40's.  She wanted a pair of shoes that are a popular custom brand that never goes on sale.  However, she was determined to not leave until I gave her even $5 off or even 10% off of those shoes.  She had told me this..and I haven't forgotten it: "My parents taught me to grow up to live by myself and to always negotiate and if people don't negotiate with you, don't buy or do anything with them..always find a deal so you can save your money. She told me one day that she wouldn't be around to do this for me, so she had me do this as a child and I still do it.  So either you give me the deal, or I go walking out to get these shoes from some one else with even $5 off!"  Wow.  How could you say no to that?

That gave me a great perspective in sales for the future.  Never take no for an answer, and always try to get that yes no matter what.  If you don't, no one else is going to do it for you.  I went immediately back into the back to ask my manager an approval of even a $5 discount on these special shoes for this bright lady.  I gave her the brief, she disputed until she met this client at the counter.  "go ahead and take her $5 off" was the final word.  But the lesson learned from this example is prices less.  That lady no longer had her parents around for years but she still lived the legacy her parents had laid down for her.  What an inspiration!  Her parents I'm sure are proud of her.  This is the type of legacy I'd love to lay down for any of my boys.  Guidance, like a life coach.  They don't owe me a thing in return.  Watching their successes in life or even occasional failures which happen are enough to know I did good as a parent!                  

Another child's appointment today.

Today was our 6 year old's Pediatricians appointment today.  With the new Dr we have on hand we've gotten more accomplished in one day with him than we have in years combined with any other Dr or even urgent care combined with these kids.  Such a relief!  He even asked of I [the mom] had Child Care experience and also implored how proactive we've been in researching this new diagnosis of our son having Stickler Syndrome.  We're going towards screening all of our children to see if they have what perhaps different mutations or variants of it or perhaps have it to a lesser degree.  All great info to know prior to hearing or vision problems when it all can be managed perhaps prolonged more so than prevented.  But also, so they know for their own fertility purposes if they could additionally carry this onto their own children some day.

TODAY IS NATIONAL DNA DAY! Celebrate by showing your ribbon support of Stickler Syndrome on your profile on Facebook or sharing it on your profile for others to view.  Thanks!

We did find that he has above perfect vision but still a questionably concerning abnormal Astigmatism.  Something even the eye Dr's have been baffled about him having such perfect vision but yet have such high Astigmatism in his eyes, which creates an extreme sensitivity and blur to his vision with out glasses.  Of course, we've been trying to keep his glasses unbroken and already have gone through 5 pairs.  Perhaps if they changed these glasses better parents might not be coming back as often?  Most of the pairs we've tried between all 3 of our boys have actually been built cheaper than our own glasses.  How does this work?  This shouldn't be this way when kids are extremely active and damage them more frequently.

An interesting information about Astigmatism is that Conner, our oldest, does not have this.  Colin has it.  Logan has it.  I've developed it from age 13 years up but never had it prior to.  Mike, the father of my last 3 children as the oldest is from a previous marriage, also has found to have Astigmatism as well.  Our youngest we have no idea on yet.  But I'm curious to find out as he has the same eye as Colin that moves around lazily ever so slightly.  Our youngest also has the major popping joint problem that Colin has which is why it concerns me even more right now to get all the children screened.  I want to make sure it's only Colin who has it. However, even the geneticist couldn't help but point out Braetens similar facial features and flat bridge [non-existing] nose bride.  I do not want to think the worst, or even think the worst, but I obviously just want answers and to stay on top of it all proactively.  Thankfully, this new Pediatrician is on the same page and has sent paperwork over to referral locations immediately.  Within 3 hours, I've already have had 1 phone call from the referrals.  Impressive, if you ask me!

We're additionally getting hearing screened, as well as an unexplained 1-2 time a month lung condition he's had since about 3 years of age where he has Asthma like symptoms where he can't breath well turns yellow and wheezes immensely bad.  He has always complained about being fatigue 'I'm too tired to walk, I just want to site' with working out too much which can be a red flag where as other days he is full of energy.

He's also going to be seeing the same Neuro Ophthalmologist that Colin has been seeing lately.  Just to view his vision and see what she thinks about his vision in relations to Sticklers, etc.  The geneticist, if insurance approves all of our children to get screened for Stickler Syndrome, they'll still need all of this information as well to make a proper diagnosis.  Thus, we're doing it now and the Pediatrician has rocked so he's been actively sending referrals for everything out as well.

That is all...for now.  I might write another one later as there are a few additional details I can write about that has been going on in addition to this.  Listed below is details on what Astigmatism is:

As informational as we try to be within my posts...here is a little blurb about what's Astigmatism: 

Astigmatism [source]

Astigmatism is a type of refractive error of the eye. Refractive errors cause blurred vision and are the most common reason why a person goes to see an eye professional.

Other types of refractive errors are:

• Farsightedness
• Nearsightedness

Causes, incidence, and risk factors

People are able to see because the front part of the eye is able to bend (refract) light and point it to the back surface of the eye, called the retina.

Changes in the length of the eye, or the shape of either the lens or the cornea make it more difficult for the eyes to focus light. If the light rays are not clearly focused on the retina, the images you see may be blurry.

With astigmatism, the cornea (the clear tissue covering the front of the eye) is abnormally curved, causing vision to be out of focus.

The cause of astigmatism is unknown. It is usually present from birth, and often occurs together with nearsightedness or farsightedness.

Astigmatism is very common. It sometimes occurs after certain types of eye surgery, such as cataract surgery.

Symptoms

Astigmatism makes it difficult to see fine details, either close up or from a distance.

 

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.

Gratefulness.

Gratefulness.

Today was a follow up appointment for our 3 1/2 year old sons vision 
with is new prescription of glasses.  


He has category 3 vision of 20/250 with out glasses and -8 & -9 in each of his eyes.  With glasses they discovered during this visit that with his new glasses being adapted to have made his eyes now 20/150.  They said with out glasses he can only see things from one inch away..clearly since his nose literally touches the iPad or iPhone to play games..educational apps and such..to even see a thing even with squinting and tilting his head downwards and looking hard upwards with a severe squint.  He is also using his glasses to look upwards with less of a squint which is a good sign the neuro-opthomologist mentioned to us.  With them, he can see things a bit better up to 10 feet away but not as good as he can up close.

We discussed Retina detachment.
Word of advice from her, was to take pictures with flash of him every 2 weeks to monitor his Retina health.  Great info that other moms on support pages are also finding reassurance in knowing this for their own or their children's vision health.  A way to not feel as helpless at this spontaneous possibility, but a bit potentially proactive..perhaps.  With this said, she said to not use red eye reduction in a photo, but to turn that feature off with flash to see if his eyes bounce back with white, dark, no light, or white light vs. red lights.  If that is the case, to get him in to be seen ASAP.  That means something is near detaching if not already detached.  The Retina has lots to do with light, so with red bouncing off of both eyes that is a great sign of health in his Retina's still.  In the case of an emergency with him saying he see's 'bugs' or 'dots' or 'dark' or 'lights too bright' randomly in one or both eyes to get him ASAP to the ER.  This is time sensitive due to a Retina detachment will need to be repaired within 1/2 hour otherwise it's as she said creates a death to the eye entirely.  There's no way to correct it beyond that point.  At this time, no correction beyond that point..at all.

Extreme light sensitivity is still baffling her.
Within the Retina are cones & rods that help manage light within the vision.  She is interested in doing a procedure which will tell us the amount of cones vs. rods or visa versa.  The only thing she says is that if this is the case it'd influence it no matter what, and given he can still see well in light situations from even that 1-3" close up tells her that this might not be what's going on.  A new specialist has been added to the equation at this time...a Retina Specialist.  For which is booked potentially 3-5 months in advance at this point, as well as even the procedure to take place will additionally take place at Casey Eye Institute within 2-3 months in advance since they're so far booked up.  Yes, we will be going forward with this.  Which means, he will be placed under anesthesia again, given that dopamine [spelling?] drug as the technicians joked with us about being [I'm sure trying to help calm our nerves] as being the actual correct dose of this drug that Michael Jackson had.  They even told us that MJ had like 10 gallons of it in his system when he was found dead which they even think in their professional opinions that he was murdered, where as you typically give some one around a few ounces of it depending upon their weight.  Yikes!  Gallons vs. ounces?  It made him very loopy last time and giggly like he was on narcotics.  Thankfully as he gets older there isn't going to be a need of this but just the normal means of putting him asleep.

Gratefulness. 
Words can't express how long I've been waiting to tell our Neuro-opthomologist a BIG thank you!  We've always known something more was going on.  Despite focusing on his learning where as I'd spend extended hours focusing on teaching him his letters from 1" away..he could point out numbers and letters by the age of 15 months.  Because of this, dr's never took all the dots that they should of connected together seriously.  As they're always seeking "learning difficulty problems" for which he was progressing above average of infants his age, due to some abnormal mama-intuititive catering from me by following my intuition.  Now, he's even counting things and starting basic addition like 3+1=4.  Even simple words like t-h-e and e-n-d, etc. But words can't even express that moment I was able to say to this vision Dr's...THANK YOU!  Even a simple diagnosis is answers and by her help who knows how long it'd take or even ever take to figure out what genetic situation he had going on with him right now!  To genuinely extended that appreciation to her and allow her to be rewarded for what a great eye Dr. she is meant the world to me, and you could see her even tear up from it to.  THAT is the sign of an amazing specialist, eye Dr.!  Give this woman a medal.  Give her a raise.  When others have been telling us they don't want to place glasses on him, don't want kids to wear glasses because we'll be in every week to get new ones, that it's just his 'quirk' that he squints, that he's above his learning curve so nothing else is wrong....guess again.  Listen to the parents, listen to the child, and don't ignore those intuitions and education.  As they say, you might be seeing the horse with those individual problems but there are zebra's like my son out there to!  Please, connect those dots to find the zebra's before it's too late!  We are all so immensely grateful for her help this. <3

        

  

A Toddler living with Stickler Syndrome.

This is the start of our blog about our son.  There is no easy way to say it, but that he has a Genetic disorder called Stickler Syndrome.  Though you might see the term 'Genetic Disease' doesn't mean it's curable or something he can heal from. He won't and can't.  This has been engraved into his Chromosomes during development during pregnancy.   


This blog was written late at night so please excuse my possible typos..

This picture was created to spread word about Stickler Syndrome, and support Colin during this time in all of our lives.  Despite his condition, he joyfully carries on!


To boil it all down into one description..it's like he's a toddler in a 80 year old mans body.  He has server Myopia of 20/200 [low vision, cusp of Legally Blind] with eye glasses of -9 category 3.  What this means, is glasses can only do little help.  No common or any vision corrective surgeries will fix this.  Which also means, in the period of 3 years we've been bugging eye dr's and Pediatricians, we've discovered that his eyes have turned into the shape of footballs instead of an circle.  Which means, this leads to Retina detachment.  This is another highly common situation with Stickler Syndrome at an abnormally early age. He is already a Glaucoma Suspect, with closely monitoring on potential Cataracts which is also common for him to have at such an early age [as early as 20, if not sooner].  With Stickler Syndrome there is this strange grey reflective part on their eyes where the corners [vitreous humour] of the whites in the eyes is.  It's not always easy to spot, specially since most of the times he's squinting to see you, but it's something entirely different I've ever seen before.    


Additionally, he has an unexplained sensitivity to light as well as squints all the time. Many more appointments will start to narrow in on why this might be..which is horrible waiting for results and allowing 'his eyes to adjust to his new glasses' which I'm pretty has created his left eye to just randomly roll around on it's own independent from the other one.  I...think...that is all that is said about the eyes.  Oh, and if his retina detaches we have to rush him in within 1/2 hour for emergency surgery otherwise he will be completely blind in that eye.  Because of all this, he is never to play sports or partake in physical activity where something might strike his face or be contact sports in any way shape or form.  We will be returning back to the Neuro-Optomologist on a 3-6 months basis to keep an eye on his vision.  This will be forever on going unless things drastically change sooner.      


Yes, it doesn't end there. He additionally has had severely poppy joints since a baby with slightly noticeable club feet.  He would kick his own feet just by kicking his legs abnormally more than our other babies.  Because of this, his legs would also bow.  We were told it'd correct itself, which it finally has now.  He is hyper mobile with his joints with the ability to place his thumb to his wrist, arms behind his back pushed abnormally far, etc.  Here is what it looks like [example, but in toddler form]: 


              


With his joints between even the ages 5-10 or 10-20 he can already get Osteoarthritis.  Something majority of people don't get until their adult lives.  


But that's not all, what more is he can actually have hearing problems.  Considering the ear is a 'joint' to.  We just had an actual verbal hearing test but need to return to complete tone hearing test for him, but the good news is so far his hearing shows up normal for a verbal range of hearing as well as that machine that bounces and sends the sound back..he passed that as well.  When he was born, I had stayed an extra day in the hospital since one ear didn't pass that test. They thought something hadn't cleared yet, and within 24 hours afterwards it cleared and we were able to leave the birthing center. He will be screened for this on an annual basis going forward.  Signs of bad hearing will most likely increase those appointments.   


Another thing that can happen is Mitro Valve Prolapse.  We haven't had signs to show that we should get this checked, and today the Dr said normally heart murmurs are a sign to keep an eye on the valve, but considering my families heart history we're going to look into it anyways at the next appointment with him.  I want to leave no stone unturned with this condition.  It just makes you think of those with skin cancer, which would of easily been prevented with a simple removal of a simple mole at one point.  I'd rather take that simple test now, and know than not and have something horrible happening instead.  After almost 4 years with not knowing all this but having that intuition that things weren't right, I'd rather know a no than not.  


Another thing we run into is his mouth has a high arched palate which has created speech problems after speaking impeccably well at an earlier age up until around 3 years of age.  Now he has far more letters being changed as he used to speak a tons better with only a few mishaps with letters.  Speech Therapy he will need until this is hopefully resolved at later years.  Additionally, facial features are a huge sign of this.  It's more common to discover it as a child than as adults as features can change within age.  Such as his flat facial profile.  Even his forehead is completely flat.  His nose has no bridge.  Between this and the high arch, it creates sinus problems for him constantly.  Since a baby we have yet to go past a week with out his nose running constantly.  It's always clear not infected. I've discussed this with support groups and it appears it's a common situation with many Stickler Patiences. I'd rather just let it run with constant cleaning rather than put any sprays in it.  This is Chronic, so a spray won't fix it anyways but only temporarily.  He has started to blow his nose calling it a 'booger tornado' which helps him get it all out quicker..yes..lovely topic, huh?  One other thing is that he has 
Epicanthic folds:
 
Here is one of the best pictures I could pick to show the folds on the eyes.  This is very common among many 


syndrome type genetic disorders.  Down Syndrome also has this same fold and nose bridge.

In addition to all this....he has spine problems.  You pick him up as a baby and even now and his back will pop.  His joint will pop with out little effort.  Not like the C02 pop, like it's softly dislocating pop.  His joints are very soft.  Lacking stability.  We're going to be seeing a Pediatric Physical Therapist for this on a regular basis to help improve his quality of life by building up his muscles that will keep his joints accurately in place since his body won't be enduring any sports at any point it gives him a great alternative.  Also, I'm going to look into children's Yoga as the warming of the Synovial fluids and mild stretching to improve his quality of life and over time help manage his pain.  I think it's great for us to get into this routine now so that way he can be used to this management as an adult.  


Our Pediatrician has helped us reach out, in addition to all this for another specialist that is in the same building as the Physical Therapist which is Occupational Therapy.  What they will be working on is something called Sensory Integration Disorder.  He will love his shoes on minute but screaming in pain the next.  Also, certain foods such as cauliflower makes him gag and throw up because the texture is 'too owie' on his tongue.   Other times, it can be find if cooked right.  He's sensitive to noises being too low or too high, or even taking a shower vs. a bath.  This can be common in children you see with Autism, but also can be children with Stickler Syndrome.  


The Dr agree's that he has Sensory Integration Disorder, so we're proceeding forward with ALSO that therapy.  This isn't an easy one to manage either.  As a parent, it can be exhausting trying to run through a number of things to try to figure out what will calm down their brain and stimulus to the point where he's not running over the place, some times screaming loudly, or just can't sit still enough to even play with play dough for a few minutes as he has a tendency to pace when he goes through these episodes.  We've been giving him a bowl of beans, noodles and rice to shovel around with texture to hopefully calm his mind.  This doesn't always work every day.  Play dough, coloring, painting, and even recently we've found breaking sticks and ripping apart flowers are also rather empowering for him that helps him calm down.  The iPad on occasion with educational games can help also calm his mind, but often times he grows hysterical and upset with those.  Not in the typical way you'd think, it's a different kind of upset.                  


Hm, I think that's all?  I will write more as things progress of course.  Or just to discuss how certain days are or how he's feeling on certain days.  Part of this is he's bound to get boughts of just utter sluggishness and exhaustion.  Plenty of rest on those days where as other days he's ready to be a healthy, otherwise, toddler full of energy.   


On additional thing we're looking to get checked out is that on Mikes male side of the family runs another thing that influences the same Chromosome 6 which will create the spine into a solid bone rod.  It's where the spine fuses together into one bone.  He already has 2 family members who has it.  I'm REALLY hoping this doesn't happen to poor little Colin, but we're going to get that screened for as well.


It's super late by the time I've completed the novel of what all is going on with Colin right now.  We shall write more later.  Thanks for taking the time in reading!


To review more information about Stickler Syndrome visit: 


www.sticklervideo.org
www.stickler.org