2012 appointments with 2013 more to come

This year has been quite an adventurous one from 52 appointments within the past 11 months.  There is plenty more that needs to be scheduled for just Colin alone.  Not even including screening the other two boys [not my oldest is needed].  It's no wonder parents with special needs children aren't able to juggle a huge load in addition to all the rest that comes with life.  However, I'd like to be that exception when it comes to life and take each moment carpe diem in order to live a full life.  As they say, live life out loud.

Future appointments shall be made with these specialists and needs: 

• ERG with Casey Eye Institute to follow up on possible progression of Achromatopsia or even Cone-Rod cell dystrophy in addition to Achromat. There is signs that he's likely completely color blind with possibly just seeing colors very minor.  It's no wonder he hasn't caught onto learning his colors like he has other things! This will be overseen by an eye geneticist and neuro ophthalmologist.
• Every 3 months we have a maintenance visit with Casey Eye to make sure no further damage is done with his potential Retina rips or coming unattached. Due to Sticklers Syndrome.
• Occupational and Physical Therapists due to preventing Juvenile arthritis with muscle stability which is highly common with Stickler Syndrome, as well as helping with his Sensory Processing Disorder management.
• Neuro Psychiatrist to determine if he does indeed have CDD or just Aspergers with some regression in general.  As he's gone from being highly articulate to now more one words or stuttering that he's never done before.
• Continue to see the Psychiatrist to manage behavior, and a behavior specialist is likely needed as well in particulate once he attends school.
• Contact the school for the blind in order to manage and receive help for his Achromatopsia as he goes 'completely blind' in bright settings such as indoor or outdoor lighting. If he see's, it's in a high contrast of black and white.
• Eye Dr's to get the most accurate and correct tinting of his special glasses needed for Achromatopsia such as shades of amber to yellow to potentially just full on deep red.  He'll need around 2-4 pairs, I've been told.
• Shriners, there is currently about 5 different specialists we also see there on a regular basis and will continue to keep seeing to manage symptoms, preventive measures, and such.
• Geneticist to hopefully get final test complete on what genetic mutation of Stickler Syndrome he has, Achromatopsia, Aklyosing Spondylitis, as well as a few other potential genetic mutations that might surface from 2nd cousins on Mikes side. I believe there is about 7 different genetic tests that are still pending via the insurance for months now. 
• Retest him in Gluten intolerance, dreadfully again.  The last one was false as the last week I had tapered off from his Gluten diet due to his inability to sleep at night. He became full of sensory, stemming, and had massive meltdowns that would leave him to falling asleep at times 2 am if not sleeping at all during the night but instead fussing and crying all night flopping around not being able to get comfortable.  Not exactly the most exciting situation when you're attending college full time and need sleep in addition to juggling this!  Melatonin on a regular daily basis has put him to sleep far better with out much of these hitches as well as returning to a Gluten, Dairy free, and Cassen free diet.
• Keep log of all that he eats.  He will likely still see a Pediatric gastric/bowel specialist as well.  He has never but rarely had solid BM since birth.  He also complains about a painful stomach ache and eating gives him anxiety at times.  Tracking his diet will help determine what exactly is making him set off with these anxieties, and potentially help lessen them from being aware.  Yay, another thing to keep track of.  Why not?

My hopes has been to have him in Preschool already.  However, due to college it's been hard to settle down those details and make sure to get him in quickly.  My hopes is to get him into a pre-k this next return to Winter season and that everything will go well with him adapting into a social environment.  It will be a great test to determine how he'll adjust to Kindergarten starting this fall.  That will be nice to have 3 kids in school this fall! *phew*

More to come in 2013, and it's very likely I've left a few things out.  I've had to take a few weeks off during finals and stressful intense situations this month from many of these appointments which has set us back a little.  However, I hope to return and get most of these once again out of the way that way I can focus on other projects and life better.  After all, I have to still pay attention to my other 3 boys in the juggle of it all.  It's not hard, but it's also not easy.  I'm just ready to clear my schedule a bit more from all that still needs to be accomplished!  

Melatonin is awesome!

Melatonin is awesome!  We've heard from many other parents about this natural method of effectively putting your child to a peaceful nightly rest with out needing some nasty drug with major side effects in order for him to get a good nights rest.  We chose to pick up one that is all natural, containing no animal products, and completely vegetable based and not artificially [which is the worst kind to use!] created.

I consulted other parents, doctors, nurses, and more to hear other feedback on this method of getting Colin to a peaceful nights rest during this gluten intolerance time in order for proper testing.  With everything going on and such little quality support we have, it was time to try an alternative holistic proven method.  Wow, does it work!  I was skeptical at first.  I gave him it broken up into a reeses peanut butter cup at 6pm letting him know they're chocolate chips and that they're part of the reeses when he asked. After all he has an OCD phobia about sleep and even small honesty would set him off to absolutely despise this supplement.  It wasn't any further than 7:59 with him all dressed up after shoving his mouth full of food all evening [he becomes this way when he's on gluten diet as his stomach hurts, constant runs, cramping tummy all the time thinking he's hungry, his stomach becomes huge out of bloating from gluten problems, etc].  He crawled into 'the thinking chair' and immediately not even a minute later was snoring hard solid logs!  2 nights in a role and not even a minute later than that exact 60 minutes, I'm no longer a skeptic!  It's like clockwork for him.

Here is an image of him passed out cold after his first dose of melatonin:

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.

 

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...       

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!