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!  

Insurance approvals?

This past week there has been plenty to juggle.  I returned from a much needed and first major vacation in my life thus far, from visiting NYC for Commicon which was amazing!  I met Sea Astin [spelling? From Goonies, Lord of the Rings, a few others..], 3 rows in the front for Christopher Lloyd Q&A, met and received Carrie Fishers autograph, and tons more.  I was even on the Good Morning America TV show outside one of the mornings where one of the cocky guys from the reality show Jersey shore winked at me..and I don't even watch their show, and ran into as well as visited with 2 good old friends on different occasions.  Some major tourist spots were visited such as Statue of Liberty, Coney island, Madison Square Garden, and so more I don't even remember now.  I went with some old coworkers from Sam Goody days years ago and it was well worth it!  It helped keep costs down as things are obviously super tight for me right now, while still having an amazing time.

I took 2 days off of college to go which makes me really hope that the next 5 weeks left of college I will accomplish with zero illness and zero further tardies. 

On another note, insurance approvals are extremely frustrating.  I won't go into politics of insurance or even what insurance we currently have.  I will say that Autism isn't really accepted in terms of insurance approvals. Hence, we've had to do tons of out of pocket costs for Colins screening.  He has seen 2 different people now with 7 different visits costing us around $800 out of pocket.  Thankfully we don't pay on car loans at this time which helps and some times money falls in place when you least expect it.  But what is extremely frustrating is begging the pediatrician to send over the paperwork and determine how they sent it over on the file to determine if they filed it the right way for approval or not.  This has been going on.  I finally found this lady who has dealed with special needs [autism in particular] for years and now that she finally made a diagnosis Colins pediatrics office calls back with an insurance approval for Autism screening for him!  "great news, he has been approved for screening with the Psychiatrist that the insurance previously declined him for" which turns out, since we had a diagnosis out of pocket then insurance was willing to pay for screening.  Why do I need screening after all that?  We have a new lady who is amazing, and don't want to switch to some cookie cutter method.  Besides, she believes in a holistic approach vs. medicating ever little problem which is huge to me as his parent.

We're also still waiting on the Stickler Syndrome insurance approval that was sent back in March.  They were quick to decline screening his brothers to determine if they have the gene.  Now we also have to wait for genetic testing approval from insurance to determine if he has the gene code for Anklyosing Spondelitis, as well as which Achromatopsia genetic code he has.  The Pediatricians office keeps on fighting me on a Neurologist for screening this CDD further.  I will go to another Dr is we need to but Colin will be seen.  That will tell us now if it's most likely a yes or no on that.  I won't take no for an answer on something as serious as that.  If you found out you might just have potentially 6 more years to enjoy your son ever speaking again and behaving some what independent..wouldn't you want to know ASAP to spend those last few years as much as possible focusing on your child?  I know I do.  Even now.  Even if he just has Aspergers, he could still lose his vision so I want him to 'see' all that he can as much as possible now.  Explore!  Go hither.  His life won't be over after these facts, but I'm all about focusing on what time you have vs. not even trying.

Right now we're waiting on SSI to be approved to help with all these medical needs that aren't being met.  Any money you might donate to us directly on that program [see the top right hand side of this page] will go towards any services needed for Colin.  And there is lots!  We're also working on saving up for a video camera to record him, as well as an electric piano to help his Autistic musician genius that is ready to come out and play!  He sings the most detailed little tunes between playing, eating, playing on the ipad, playing with his brothers, doesn't matter--there's always a song like you'd hear on a TV show.  Either it's super happy, sad, contemplative, or loveable.  He reflects his feelings through his certain tunes.  Even his Psychiatrist he see's now thought that was quite the skill he has and was impressed by how detailed to it he was.

On another note, we are also needing to schedule an ERG for next month.  I hope they have an opening as typically they're 2 months out.  They're observing his low ratio of Cone and Rod cells to determine if it's progressive or not.  Every 3 months they're going to get another rating.  I am hoping that this time we can better approach the IV situation once needed and local anesthesia that he doesn't respond well to due to sensory problems as well as his autistic side.        

Always adapting to the ever changing lifestyle..

Nothing is ever set in stone yet it's always rapidly changing which requires creative adapting from.  That has always been my understanding in my pretty crazy life lived prior to even having kids.  Kids just taught me to kick it up in gear and let it flow naturally and not stress over so many fine details we don't always have control over. 

However, I must say from an admittedly strong stance I've had in life leading up to this [perhaps prior situations were to warm me up for what is happening now?] was always hard and always a struggle.  Yet now, I've admittedly faced my toughest challenge.  Something for years I was extremely thankful and very blessed to consider not having--is a special needs child.  I've seen family struggle for generations with them, friends struggle with raising them, and the more kids I have had the more I took a deep breath each time they seemed 'healthy' and stable.  As they say, don't always count your chickens before they hatched.  But also, listen to those mothers intuitions!  I put a foot in my mouth now as I humbly speak out loud saying I do indeed have a special needs child. 

This child absolutely an individual name and identity.  Colin.  Who this person isn't is the medical names of all these medical ailments.  I get it, those are totally separate.  I've had only a few reminding me that politely or passively.  Let me reassure you all. That is the joy of this mother.  You do your hard work researching the medical information but when it comes to that bread and butter of a loving bonding time with him all that gets left at the door.  Colin is absolutely the most sweetest, kind, loving, and happy boy despite all of the conditions he's had to gleefully face in his little life thus far.  This doesn't mean I won't express his conditions, findings, frustrations, exhaustion's, and do a glimpse of educating to my friends in person or Facebook.  That doesn't mean my outlook on my son is "poor him! SOB story SOB story.." Merely, while I educate others I reassure myself.  To build that support system is those who are able to hear the situation and reciprocate compassion, and empathy.  I'm open to constructive criticism as well as feedback but it doesn't mean I will always agree.  A few simple caring words and support verbalized here and there goes miles.

What isn't support, in my mind, is having Mikes father lay him off right on the verge of almost being done with college on his end and me just beginning.  Not to mention all the out of pocket expenses with Colin and extra gas we've been paying out for lately.  As many might know, we've had a long term estranged relationship for which I won't go into detail unless you'd like to come to me personally and discuss.  What matters if that the focus is put onto my 4 boys at this time and hopefully they can work past their issues.    

We have decided to have a quiet respectful Holiday season low key of any extra stress, drama, or harassment.  If any extended family members would like to reach us they can do so directly on here, email, phone, etc.  We won't be speaking with Mikes parents or his half sister Marci, at all during this Holiday season and we won't speak with extended family through them.  Please come to us directly.  After all the diagnosis with Colin, we want to spend time with Colin and not have extra stress or chaos in our lives.  We want to focus on the 4 boys and give them the best Holiday season they all deserve.  Also, if Colin does indeed have this extremely rare CDD Autistic condition we want to make sure to invest into a video camera and capture all these precious moments with him now.

Thanks and much love to those who have continued to show their love and support,
Carpe Diem!

  

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!    

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...