ERG test results are in, a week later!

ERG RESULTS ARE finally IN!
This evening I finally received a long waited for results to ERG results. It has been a rather impatient week regarding the lack of results from the tests last week.

Colin at his recent dental exam.  He was totally relaxed with his Hiro & Thomas in hand for the appt!



Daily I've been reaching out to them as I get transferred around on average to 2-4 people who each tell me something different.  Only to reach some one who finally says they're not qualified to offer the results of the ERG study and not even a tech [who normally offers us the info] can not offer us the info.  To me, this has been a red flag all week.  Call it a mothers intuition, if you will, but something is going on with these results as a simple "everything is okay" I'm sure would be answered by a technician as it has been leading up to this point.  But patiently just tried to take day by day and medicate upon patience and within time the answer would come sooner or later.

That day was today. 
I've had other appointments for myself, other kids appointments calling in as a constant tease leading up to it.  Thinking..is this the call?! Nope, another appointment confirmation.  Or a rescheduling another kids appointment. So on and so forth.

Today was different.
It was near the evening and finally his Neuro Ophthalmologist contacted me directly with an apology for the delays but she just wanted to get a definitive answer from the Eye Geneticist and technician that handles the ERG results.  She is such an amazingly sweet articulate and intuitive woman.  Really, the medical industry needs more people like her.  As mentioned in previous blogs, if it wasn't for her we wouldn't of already had a clinical diagnosis of Stickler Syndrome perhaps for years with Colin before it was too late and things were worse off than it could of been otherwise.  She is such a blessing!

DISCUSS.
She proceeded to discuss the final results from the Retina scan.  He appears to have a deficiency in both Cones and Rods within his Retina.  What does this mean? These are the cells that make up the Retina.  In his case, his 'cell's are stretching because of the lack of normal cells that should be there instead. But not having enough, it's been creating a light sensivity problem during day light where he literally can not see a thing.

Imagine when you set your camera incorrectly with the ISO and all the settings are off to allow as much light to come in like you would for night. Instead of that he has that bright saturated image constantly that doesn't allow him to see during the bright sunlight-at all. This is why he does better in darker environments. It's not just a cone, but also a rod which means no matter which direction you go this standing in the way can create a barrier from him having perfect 20/20 corrected vision.

The good news, however, is that there was no signs of potential tears in the retina or holes that might suggest he was getting close to having his Retina detach.  Retina detachment is highly common among Stickler Syndrome children at a very young age.


Here is what is going on..we have 2 means in which he will potentially go completely blind.
1) Retinal detachment
2) IF he has a progressive loss of vision and function of these cells with future ERG's to help determine this, then he can either have Cone Dystrophy OR Achromatopsia.


What are these?  You might ask.  
Great questions.  I've researched them before, completed pathology tests and such on these common vision problems.  However, a refresher is great to help answer this question.
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Cone Dystrophy is:  
SOURCE
A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.

Watching some video's on this condition to get a better grasp on what this is: 

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Achromatopsia is: 
SOURCE
A condition in which objects appear to be abnormally colored or tinged with color. Also called chromatic vision. 

1 an abnormal visual condition that makes colorless objects appear tinged with color.

2 a form of color blindness characterized by the imperfect perception of various colors. It may be caused by a deficiency in one or more of the retinal cones or by defective nerve circuits that convey color-associated impulses to the cerebral cortex. The most common defect in color sense is the inability to distinguish red from green, a defect evident in about 10% of men and 1% of women.
2nd SOURCE  [this website is extremely helpful with visual examples of what these eye conditions each look like!]

Achromatopsias are more of a colour distortion than an outright deficiency. Patients suffering from chromatopsias simply do not perceive certain colours as well as others. Chromatopsias take two forms. One of these is distinguished by the colour that predominate in vision (cyanopsia or xanthopsia); the other is even more rare that is experienced by some blind people (phantom chromatopsia).

ACyanopsia is characterized by the patient's illusory perception of a penetrating blueness in the scene. It is frequently observed in patients who have had recent cataract surgery in which the natural lens is replaced with a clear plastic implant. After living with the yellowing filtering effects (i.e., xanthopsia) of cataracts for so many years, the visual cortex apparently compensates by adding blue to the visual scene. This mechanism may be similar to the those that underlie colour constancy. The bluish tinge may persist for weeks or months but gradually it gives way to normal colour vision. The following image is a simulation of how cyanopsia may affect someone's colour vision.

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In my own MAMA words.
As they say all you can do is just take it one day at a time and manage the things that you can manage and let go of the things you don't have control over.  All I can do is research studies on these conditions, ways to help it, and more.  Despite the potential that this might be or lead up to becoming I can say that I'm committed for Colin.  To offer him the best visual options now before things start to get worse.  Explore and 'see' things he's never seen before. Enjoy life to the fullest!

Also, his 4th birthday is on the 18th.  This little guys body goes through so much and almost too much but yet he is still the most happiest, cheerful, bubbly, intelligent boy you'll ever meet.  He can pronounce dinosaur names better than I can!  Or name all of the Thomas the Train characters and what their function in the TV shows is.  He also hums cute little tunes for everything.  Like opening and closing the fridge he hums a quick little "do do dooooooo...." which really reassures me his niche for music.  One of the things I want to get him going on so that when things potentially progress he ca have something to fall back upon and rely on.  The ipad has offered plenty of piano lessons with free apps!    

Low iron is common within Sticklers

There's an extremely valuable fan page groups on Facebook that has enabled many Stickler Syndrome families to connect with and bounce off of each other similarities and differences between health, symptoms, resources on what helps others, and such. 

One of the recent health criteria that many of the families have been discussing is low iron levels. For kids and actual adults diagnosed with Stickler Syndrome.  There has been 4 other mothers now who have said either that themselves and/or their kids have had extreme low Iron levels. Colins has been around 10 which I believe you want it around 4. No matter the supplements or diet changes his levels wouldn't change until he was around 2 years of age.  He still has low iron levels.  I'm not sure why this is or what causes this but it appears to be more common among Type 1 Stickler Syndrome patients.  There is 5 common types of Stickler Genes that give a random variety of symptoms [one being perfect vision but abnormal Astigmatism present which is what Logan has] and the more further back in generations Stickler syndrome has mutated the more likely hood the kids have to getting all of these as well as mutated versions that they haven't seen much or ever seen.  That is why it's good to know family history as accurate as possible for Colin's diagnosis.   

Braetens' Iron level also came up low recently to. He was around 8 and the Pediatrician ordered another test to follow up with.  It's also difficult to create certain diet needs when there is sensory problems involved.  Braeten has been rejecting food just like Colin has which limits his intake and really does make me become more creative on how to get him to take the foods they both need to eat.  I'm not one of those parents who just say forget it and give up though.  There is always a way.  I'd rather find a way than have my kids be picky, selective, and continue to be unhealthy. 

Colins appointment is coming up.  Lots to be discussed with the Dr regarding that.  But another Iron level test will be in order.  Along with some other special requests and specialists that I will discuss in another blog.

Also, yesterday he had his ERG which we haven't heard back on results. Before we've been explained about an overview or problems noticed, etc. It has been a bit concerned.  They're sending the images from this study and testing to Colleges, the ERG machine hardware company, and anyone else interested in seeing the results.  Because this is something new that would help improve their research and development and get further answers. Because the nature of his eyes are so unique this prompted them to pursue this testing to determine the base line health of his Retinas [for when things do get worse, we can compared to his base line], check Glaucoma pressure within his eyes as he's a suspect, how well his eyes adapt to light vs. dark [light issues with his eyes properly dilating has been under observance as his eyes dilate reverse of what they should. They also are looking into Cone Deficiency.]. 

What all is going on?  I should know soon when the week begins again.  This is an exam that the Retinal Specialist reviewed results and the Genetic eye Dr over saw with his Neuro Ophthalmologist.   I have complete faith in them to find results.  I will just have to keep waiting to hear those results.  I'm not sure what to expect or trying to get any expectation in my head and just allow any possibility to be presented and take it as it comes and do with it the best I can with what I have.

 

Great news on Colins eyes!

Colins latest appointment came in at 20/100 [improvement from 20/150! but no change in category 3 as right now the depth of field is the main improvement.] with glasses during his recent vision appointment!  What does this mean?  He's still -8 and -9 however, he still has all those other additional issues that go along with Stickler syndrome and always will be having them.  This is a degenerative disease.  It's inevitable.

Within the past 2 weeks or more I've mentioned about the increase in vitamin intake and supplements he's been receiving.  I really think this has been greatly been helping him!  He has less fatigue, less crankiness, less rolling around on the floor in pain and extreme fatigue no matter what he eats/drinks during the day.  What I've done differently..on a basic idea situation: 3 multivitamins in the morning, 1 at night to maintain vitamin intake on a 24/7 basis. He additionally receives Carlsons Fish oil, Carlsons DHA, Vitamin D, Vitamin B's, and one other liquid one in additional to vitamin C and magnesium.  The eye dr based it upon the eye glasses, and down played nutrients. Of course, naturally, they downplay something they typically don't research or don't have enough research to back up.  I've read plenty of Retinal research to show that a significant increase in vitamin intake helps with vision and Retinal health.  Why not?  I know after years of taking vitamins growing up that it does no harm and can even help me cure a sickness within a day or two vs. having it last for a week.  I'm considering actually bringing him to a nutritional specialist to see additional diet and vitamin needs he most likely needs in combo with blood work to see where his blood balances or imbalances out at this time.    

As for anything else new..lots is going on.  I will write more blogs later.  At this current time, I will say that I'm fully aware of a huge audience this blog is reaching and most of them being family or friends.  I additionally want to say that we appreciate those who have been and are continue to show it to us.  We greatly need this type of support in our family right now in our lives than any other time in our lives.  It really does speak miles to us even simple gestures or words.  Of course, support goes higher and into a more spiritual sense otherwise I know me as a mother I'd be lost with out that support since I'd only be relying on others when others are not always or never available for me.  With that said, I know lots of people will take every and any word I might write on here to heart and offense.  If that is the energy and intention you're seeking, I'd highly encourage you to stop reading my blog.  That isn't my intention and by you don't such is only going to continue such negative energy from being created if not multiplied.  I do not stand for this type of behavior.  I will no longer be punished for what my son has and how others are 'offended' for him having it and me speaking out.  That is all I have to say at this time.  At least those know where I stand.

Bottom line, Colin is special needs.  This is about him.  We ask others to stop making it only about them with what ever is said on this blog.  Freedom of speech.  Also, I really don't understand why those find the need to seek out our family, who Mike once served our country and go after them?  I don't stand for this behavior towards me, any more.

 

Time line of certain events. Part 1

It is rather interesting the different levels of reactions experienced since the beginning of Colin's life.  Looking back there on how things were at that time boils down to an entirely different perspective than typical motherhood milestones and experiences.

Colin entered this world 8 days late.  I did an induction during his delivery which only lasted 4 hours from start of the Petocin to the end of his delivery.  I know there is lots of people who say it's better to wait for nature to take it's course with delivery.  However, I've had 2 prior deliveries that didn't need an induction with those being quick natural deliveries. Colin, however, my body I believe, was responding to the pregnancy in a different way.  My blood pressure increased to prehypertension stage and questionable Preclampsia at the end of the pregnancy [this was greater earlier on with Braetens pregnancy, which is my 4th and very last son].  I had additional issues and if other pregnant or expectant mothers are wondering what those were feel free to message me to ask.

Oh, the main huge issue was for weeks I had early intense braxton hicks and bleeding for close to 10 weeks long. I also had my placenta low laying but early on they didn't want to call it placenta previa.  Something was just different and I forced myself to follow the intuitions of bed rest..despite 2 toddlers running all over the place!  Hindsight, there is a huge miscarriage rate in Stickler Syndrome pregnancies or those with Stickler Syndrome. It is listed under infertility Dr's list in terms of being a cause of infertility of inability to conceived.  I have had no problem conceiving as I always did at those prevented awkward times in life.  Such as Colin was technically most likely conceived 7 days after I was laid off from a job just as I was moved since they were filing bankruptcy.  It was a complete double whammy!  As soon as everything started to go downhill we started to get rejected from local family support because of our lack of successes.

I then took an anti depressant which I've never taken one during a pregnancy despite my first pregnancy was during a domestic violence situation.  It is called Zoloft. I asked constantly each visit with the Dr if this would have any influence over my growing child as he always simply responded with "I have yet to have other patients with defects of their kids who have taken this med"  In hindsight, I might not of needed it and seriously always objected against it but chose it after the influential words a certain family member mentioned to me about her with hers. Pregnant and impressionable with all that was going on, I took it.  I did stop taking it towards the end of the pregnancy after Zoloft birth defect commercials were popping on TV in my 3rd trimester.  Mind over matter, as I've always said for years. I was able to push through and use courage to stay off of anti depressants and never gone back on them. 

Fast forwarding back to my delivery.  It was beautiful. Once he was delivered he immediately grabbed my right pointer finger and we had the most amazing bonding experience that was like the best fireworks in the world. Nothing could top that amazing experience. Nothing that would even be close to describe it to! 

However, once the pediatrician came to examine our child before we were released there was some concerns.  First of all, he didn't pass one of his ear tests. We had to repeat it 3 times and finally the last one came back with just enough to pass.  They said some times it's because of fluids or such in their ear that need to work their way out.  Next, he commented on his shriveled skin most likely because he was late and also thinking that his club foot appearance also was meaning that he was late so his body would work it's way back to normal and if it's not by a month or so then we'd discuss the situation once again.  We ended up discussing it with him during that follow up visit and he said it would correct itself out by first bowing the legs rather inward..I don't know if this makes sense. But think of where your knees buckle. There would be a calcium build up on his legs to counteract that bowing in his legs and then over time it would then correct itself. However, it appears this appearance he has with his feet and legs is highly common with Stickler Syndrome patients. It's where the bottom portion of the legs bow outwards.

For example, check out this image to the top left side specifically with the girl. That is the perfect example of what is going on with him right now. Source of this image

 We were also having constant concerns about his vision where in direct sunligh this eyes would just be wide open.  I have a video of it that I should download from a broken old hand camera and post on here. I waved my hands in front of his face and he wouldn't blind an eye. His eyes would be wide open and as a baby it would happen at the most random place and times. I even had a lady at a local grocery store ask me if he was blind. Flabbergasted, of course I said no. We've had concerns..but blind? **please** yup, turns out NOW [almost 4 years later!!!!] after years of being talked out of referrals, recommendations, and lazy paper referrals from our pediatrician and us parents of multiple kids needing them to be punctual on paperwork and helping us out between all of life's other chaos we have answers.

My strong suggestion to other parents if they're in our shoes..keep searching with other pediatricians even if times are hard. Call and leave a message with different doctors to see what their advice is and see if you want to see them.  Look around.  Don't settle.  I most likely settled out of a busy life and of course my mothers intuition was just screaming so I'd still ask and ask around. Not even local eye dr's could figure it out or even get an accurate eye exam due to his light sensitivity so we'd leave unfulfilled. Talk about how frustrating, and utterly exhausting! Something was going on. We had people ask us all the time.  But what do you tell them when you don't even have answers either?!  I'd love to pull an answer out of my pocket and make them stop constantly asking..but I couldn't.  I wanted that magical answer to!  Thus, we gave people the fuel to speak of us as if we were 'lazy' 'not looking hard enough' or further.  It honestly was frustrating because I would of loved to answer them and knew that majority were already mentioning how we need to try harder.  Yup, thanks..we already know that! Have we stopped trying to find that answer? No.  The concerns honestly didn't feel like 'support' because they weren't positive.  Randomly though, we'd get those random positive reinforced questions.

During Colins baby days up to a year old he was pretty good at most milestones.  Actually above average as he started to speak far earlier than the Dr said he would. He had full sentences by the time he was 12 months and could point and say what was upper case and lower case letters by the time he was 16 months old [my other kids never did this until they were in pre-k!! Not even my last son speaks in as many words as Colin did at that age.] simply by me repetitively pointing them to him on a leapfrog ABC spinning ball toy about 1" from his face and repeating 10 times the letter, twice daily if not more. We had our educational books that we read together which was counting up to 10 and I'd additionally use fingers or his toes to repetitively count up to 10 or more.  He'd watch our big screen LCD around 3' from the large 47" screen to watch Nick Jr all the day. Moose & Zee taught him so much with repetitiveness as well. He was able to repeat all that they did, and tell me what show was coming up next all the time.  Mind you, this was before he was even 2 year of age and as early as 12 months. 

I strongly believe that my son is extremely intelligent.  Most moms boast about even a glimpse, but I'm not just saying this.  He is the age of 3 now and he can count items past 20.  He can tell you by a quick glance that there is 4 of them with out the need to point at each item.  This is something not even my 6 year old Kindergartner can't still do with out counting one at a time. My oldest couldn't do that until he was in 1st grade.  He also notices when there used to be 10, and now there is 4 so there is 6 missing.  Abnormal for his age?  Yes. I strongly love this gifted ability within in him.  This is what comforts me about his survival abilities as an adult some day with vision problems such as going completely blind.

He did show an abnormal dislike for food and given the Dr's questionable responses to my already bizarre sounding symptoms of my kids I decided not to mention to him that he wasn't eat cereal and baby food well.  My intuition told me this would open a completely sour can of worms as lots of Drs grovel over large vs. smaller babies.  Colin has always been around 30-50% on the scale after 6 months of age.  Baby cereal and specially pea's would make him gag and throw up a little.  After around 10 attempts of each, I'd stop using them both further.

I was breastfeeding him and a very passionate and compassionate Breastfeeding advocate or lactivist is how you say it[Emma, whom I've donated milk to her sisters adopted baby with this current pregnancy] came into my Facebook world discussing the huge developmental benefits of breastfeeding beyond one year which expanded my reasoning and focus on parenting as an attachment parenting.  The basic principal is that by your child getting their needs met it'd actually make them more independent and less dependent upon you vs. typical detachment parenting in attempts to 'make your child independent and not depend upon you at all!' which in relativity, this little child in any animal culture needs a mother and is intended to be guided far longer that most animals lifespans.  Additionally, it explained the level of 'comfort' it'd offer your children into where they're less fussy, more focused on other levels of life they might not be otherwise.  Following your mothers intuition, and listening to it rather than listening to what society thinks you should force your child into doing.

Coming from both sides of these spectrum's, I highly suggest attachment parenting.  Once you read the info it's really a no-brainer. Of course, I always love to think outside of the box. But results have indisputably paid off.  He was able to fall asleep during naps or night within minutes of a feed with no extra crying it out methods or such. Peaceful.  For us both. Mostly just dependent for nourishment and a reminded that I was still physically there and present in order to regulate his own body system [example: cosleeping was just added to one of the top ways to decrease SIDS! Make sure you have the right cosleeping environment and no drinking or such] we had friends commenting on how well behaved he was, loveable, and more.

I breastfed him until 2 1/2 years old where at that point I became pregnant with Braeten and my body stopped producing to prepare for the new pregnancy.  I really think this has helped his IQ, his sense of self, plus not to mention I'd additionally also put my forehead to his since I could tell he was comforted by this [turns out he can only see 1" away since he's Legally Blind since birth! No wonder he was needing my 'eye' to look at. As studies say your heart and his heart skip a beat and your brain releases happy hormones when you lock eyes with your baby.  Not just them but you to.] I'd also lightly rub his eyes and on the bridge of his nose which would make him fall quickly asleep during nursing.  Again, mothers intuition!

We constantly all the time had random people comment on his constantly running nose and his messy face because of it.   There was no time to stay on top of it.  It runs all day, non stop.  Ever since he was a baby his nose would run ALL THE TIME. Turns out, this is because he has a high arch in the roof of his mouth.  He was extremely articulate about his words during his speech until around 2.5 years of age and gradually between that age and 3 years got worse.  He started to regress in his speech where L's he'd normally pronounced would turn into very obvious w's, and g's would be d's, and such.  Even more now it's gotten worse than it was 2 or 3 years of age.  He still speaks well just don't pronounce his letters well any more.

I will write a second blog to follow up with the additional details boiled down to a simple [ha!] blog post soon.  My head is full right now after siphoning all these details out into one blog post.

Last night, a milestone.

Here is my message from last night: 

"It was one of those milestone evenings where you inform your child some honesty in where his eyes will at some point no longer show him light and turn dark. But that his ears will allow him to be like Superman when it comes to music, sounds, and more. That little guy is very smart, and I believe he was able to understand the basics of my mini message. I told him to close his eyes and turned on a song for him, and reminded him that his super human abilities were already working. Quite an evening and moment never to forget."

The other night before this we had a fun day at the play area at the older brothers school.  He ate all of his dinner, became extremely fidgety, and said he wanted to snuggle in his blanket cave again.  This is his thing he does to get away from bright lights or to play in.  He completely wrapped himself up in his blanket cave and totally passed out hard. He is abnormally more tired than the other boys even from simple activities.  I have a feeling he'll never really grow out of naps as he grows up to help his body repair.  I thought it was so cute, and had to share!  He passed out at 6pm and I had to bring him up to his bed as he didn't even wake up during this transition.   

It's been busy!

A quick catch up blog..excuse the errors as I need to get onto more immediate projects in place...




SCHEDULE IS LOOKING TO CLEAR UP!
It seems our schedule is about to free up for the next month and half.  Such great news considering our schedules have been crammed packed full of our jobs, college, kids school homework, kids school activities, and last but def not least [scratch that--the most! NOT least.] we have kids Dr appointments.

LOGANS ASTHMA ATTACK[S].
Right now we're about to follow up on Logan's 2 recent episodes of asthma.  Last month he went to the ER regarding a horrific episode leaving him collapsing to the floor from lack of oxygen during his asthma attack.  This month we've edited his diet carefully, added certain supplements to help curb his episodes or lessen the attack [Magnesium has been highly recommended to us as well as Vitamin C. We've found both of these in a powder form to mix together as a drink to ingest quickly and simplified the whole process].  We also doubled his vitamin intake near the time frame he has his almost on schedule episodes and additionally added Carlson Fish oil [they're based in America and one of the only fish oil companies that you will KNOW do not have heavy metals due to testing, and farm raised fish. Highly recommend them!]  This second episode that we had to wait for before we could bring him back to the Allergist has proven to be a bit of a success in terms of a lower attack, his color returned back to normal compared to his yellow tinged skin tone combined with sunken dark eyes and with blue lips he normally gets during the actual episodes, but also the spray they gave us actually helped his attack stop in it's tracks.  What a huge relief!  We can check mark this off as a slight success despite the still reoccurring asthma attack.  It'd be great to have this asthma disappear, if possible.  Nothing is ever impossible.

MY OLDEST + TONSILS REMOVED THIS SUMMER.
Another excellent news we have been approved by the ENT to have my oldest sons [9 years old] Tonsils removed.  It has been years of consistent asking, testing, and just hardly missing the mark.  But due to an amazing Dr and ENT we've had it approved within 2 appointments not even a week apart from each other.  What a simpler and painless process.  I'm sure he won't be saying that after the surgery though!  This is a huge relief and one of the things I can mark off of my to-do list which makes me feel greatly accomplished.  Now to follow up with the receptionist since she has yet to give us a call to make that appointment..I can't wait for him. He'll be able to focus better, get better quality of sleep, not have horrible throat problems, snoring, we're also hoping it'll help with his speech therapy on it's own, and so much more.  This will happen during summer so we of course don't miss out on any school. I do not like the kids having tardies or even absences.    

Now..relating to Colin with the most intense form of Stickler Syndrome.  We have started to clear up appointments, to-do's, major schedule tasks, and more...so now we can focus towards creating some more appointments for Colin.  The beginning of next month we're going to be going an ERG to determine a base line on his Retina's.  This is to determine any future inevitable degeneration on his Retina's.  As mentioned in previous blog posts, they're going to have 3 people over seeing this exam under anesthesia.  We will have the amazing Neuro-opthomologist Leah Reznik who discovered he has Stickler Syndrome, with an Eye Geneticists, and a Retina Specialist.  Right now she has been completely honest about this unexplained light sensitive issues and says it makes her completely perplexed.  We really hope that answers happen during this next visit.  Only time and beautiful technology will hopefully offer us the answers that we're seeking.  Otherwise, we just keep trying to do the best we can with him on a daily basis.  Other appointments we're going to now start with all of our current activities out of the way is OT & PT to help increase his muscle tone to help the health of his joints from delaying or preventing Degeneration of his joints into early onset of Osteoarthritis that goes hand in hand with Stickler Syndrome.  OT is to help his SPD.  This Sensory Processing Disorder [SPD] has been quite a new struggle over the past year.  Too much stimulus can set him off to an overactive behavior.  Or if it's not that, his body aches and hurts making him far more cranky with this SPD because it just sets him off like pains being magnified because his brain needs to process his sensory experiences better.  I honestly don't know if this is because of his extreme high myopia or just something that happens neurologically with Stickler Syndrome.  I hope to perhaps find answers to this.

Example of Colins light sensitivity at our oldest 

elementary playing outside. Not even direct sunlight. 

One additional thing we're saving towards purchasing at this time is prescription type sunglasses for summer time.  Summer and the sun has totally snuck up on us!  But with that paper from the neurophthalmologist that just arrived in the mail will help us focus onto getting this in place for him.  He has been wearing hats which really helps him see better in bright sun light.  Otherwise it's extremely difficult.  One of the cute things he said recently as we placed him into the car to go out to lunch together was his Leapster is too bright and needs glasses like he does so the Leapster can see to.  I thought that was very cute.  He has been relating other objects or items as needing glasses as him in a positive way which reassures me as a parent that they are indeed finally the right glasses and making an impact in his daily life.  Despite the still extreme low vision.....I will take that.  As long as necessary!

Visit to Science center in Portland called OMSI. He had an absolute blast playing with the water which calmed his Sensory Processing Disorder down to calm down. We love this science center!

VITAMINS ARE INCREASED FOR EYE HEALTH.
Speaking of vitamins, I have also been offering him 3 multi vitamins in the morning, Vitamin D chewable, Carlson fish oil chewable in lemon flavor which he LOVES, and Emergen-C drink mixed with regular fruit juice to help lessen the sourness of the drink.  Given the reading I've done on health of retina, eye health, and more..it only makes perfect sense for him to double and even triple up on vitamin intake.  I also offer him 1-2 vitamins in the evening as well.  Results? By doing this so far, we've noticed far less cranky episodes and he's been actually happier moods and not as exhausted and sleepy all the time.  We have been a week and half off with out Ibuprofen as well to help his occasional grogginess and pains to help him perk up.  I honestly think that it's doing something good within his body and am determined to continue.  I know most FDA Vitamin basics are based upon certain criteria.  It does not scare me to bypass their recommendations within Vitamins.  Prescriptions, sure.  Vitamins and a well balanced mostly raw diet..I am totally confident about it improving the quality of his life and eager to see any possible outcomes in delaying any Degenerative outcome of Stickler Syndrome.  They're not to make up for what he doesn't eat, they're to compliment it and help give him the extra kick his body most likely is lacking and needs even more than we typically would require.        

Traveling with burley bear on his lap and being all messy with his delicious hamburger during a trip up to Seattle.  We're going to get a sun visor for inside the van to help with his light sensitivity.  I hope we can get answers on his light sensitivity soon!

Busy!

It has been rather busy lately with massive amounts of appointments for each of the kids.  Our schedules are starting to clear up further to make way for other activities around the corner which is such a relief.  For example, we had our 6 year old last week have a major Asthma attack.  This was the worst one yet he's had.  We rushed him to the ER to get checked up and they gave him some Steroids to reduce his inflammation within his lungs and once he had that his breathing released quicker than anything else we've ever seen release it before.  We're currently seeing an allergist regarding potential allergies that a previous Pediatrician and urgent care thought it might be.  The scratch and poke test turned out to not have any allergies show up..at all.  However, this scratch and poke test didn't help us determine if there is any food allergies that might of shown us more. 

There is plenty of diets that appear to help asthma or the severity of by excluding eggs, corn products, and more. We're going to try it out to see if that helps.  Plus minimize the use of chemical cleaners around the house such as powder carpet odor boosts, sprays, and more. This can irritate and set off Asthma for him or make it worse off than it would be otherwise.  One of the things we're going to talk to the geneticists and the pediatrician next is about this being related to Stickler Syndrome.  There was some immune system things I found recently related to Stickler syndrome because if you think about it the tube running down to the lungs are made out of the same material collagen has a huge play into creating.

Other than that we have yet to pick out a new pair of glasses for Colin yet. Our trip to the local stores was unsuccessful due to in store product limitation. Lots of the glasses we wanted to try out were not in house or had to be ordered.  Quite a bummer considering you won't even know what they'd look like otherwise!  They need more of these options in stores for kids to choose from.  All additional glasses were lacking the extra build up bridge over the nose to help his lack of.  Thus, we left empty handed for now.  He at least has the basic pair that presses his eye lashes into his eyes constantly.    

We're still waiting to hear back from the insurance regarding his Genetic tests being approved.  Once again, if that doesn't pan out we're going to have to fork out around $5-8K per gene tests.  There's a basic 5 tests that needs to be screened which means..lots to save up for!  Not even including ourselves and the rest of the boys being screened for this to.  We are approved for his upcoming ERG to have a basic idea of the health of his Retina's with this screening.  It's a pretty impressive screening procedure.  I'll post more about how it works later.  Also, they're doing an exam under anesthesia to see further the health of his eyes with a Retina Specialist as well as an eye Geneticists and our Neuro Ophthalmologist within the same room.  He has this consistent light sensitivity issue that has been long ongoing since he was a newborn.  As our specialist has called it "very perplexing" and they want to get to the bottom of it.

That is all for now..haha..lots but still all for now.  We're close to arranging more appointments for other specialists and just taking a quick few day breather from it all in the time being.  Next one up is the Physical Therapist and Occupational Therapist...