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!    

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!

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!