Gluten intollerance blood work today

Gluten intolerance test is today. This time has allowed me to do a really great vaccuming of the house with out hearing him scream for it to be turned off due to his Aspergers and SPD. Which I typically need to vacuum 2-3 times daily just to stay on top of the crumbs and mess the kids bring and this always sets it back further.  Yesterday, I took Colin out to eat with Braeten and I for a rare [about to be non existent for Colin!] morning breakfast yesterday of his absolute favorite french toast.  He eats such a large portion that he typically is ordered the adults size vs. the kids plate.  Braeten had eggs, bacon, and hashbrowns.  I decided on some steak, shrimp, and salad.  Running around and doing all what I do I need as much energy constantly to stay on top of it all. As no one truely knows what it's like to have a special needs child unless they have one of their own.  It's horrible when you hear those making fun and saying how annoying how special needs people are, for example the guy with Asperger and turrets from American idol who ended up being one of the finale guys on the show but had these 'weird' mannerisms that he couldn't control.  Seriously people, don't make fun of things you don't understand.  Don't judge.  Also, don't judge the parents of a special needs child.  It's not the parenting, it's a neurological and beyond peoples parenting abilities.

Colin yesterday hugged 5 poles before entering Fred Meyers as he always does and if there isn't that repetition as well as soothing to him.  Most people wouldn't have patience or scowl at allowing the child at having such extreme eccentric behaviors, however, with a special needs child you just adapt to loving them and allowing them to continue it so that you can prevent meltdowns and uplift his behavior and mindset.  It really does make a difference.  Yelling, defeats the purpose and makes more damage and lack of trust towards you which trust is vital with a special needs child between caregiver or parent to child.

 On another note, I'm very thankful for what my parents have been doing for all of us.  My mom has  been purchasing vitamins for a few years now with far more expensive ones now to help with the brain, vision, stomach, etc. as well as dropping off some major gluten free groceries from time to time has been a huge support. 

There is plenty more going on.  This is just the iceberg of frustrations.

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:

Halloween as a family

 Images from Boo bash near where we live which is an awesome community event we attend every year.

Colin as Mario from Super Mario bros. while Braeten is wearing the traditional chicken costume that I made for each of the boys to wear at the same age.  4 times this costume has been worn now for each of my boys!

Conner was 'black' from Pokeon

Logan a cowboy for boo bash but wolverine for Halloween night.

 Proud mama dressed up as zombie Katy Perry with the most adorable chicken ever, Braeten!

 Proof that Colin has 'day blindness' where he can't see or his field of vision is extremely narrow to the point of being completely blind during bright sunlight.  Hence, why his eyes are wide open and won't flinch while you swipe your hands in front of his eyes.  Achromatopsia is a genetic condition which commonly comes from incest.  Which is why the geneticist as well as his Pediatric optomotrist believes the Reichert 'royalty' might be involved in this rare genetic mutation.  As royalty in the Reichert side heavily encouraged incest amount 'royal' family.  There is also color blindness on a 2nd cousins side of the Reicherts with additionally having hearing problems which might potentially explain Sticklers..possibly.  This could come from more than 1 side of family as told from geneticist. 

 Colin loves his Thomas candy bucket all dressed up at Mario.  He has started to make less eye contact now, smaller word answers, and severe regression within speech.  However, he has potty training but they've told us to watch that over the next 1-3 years to see if there might be any regression that would let us know if CDD is going on. 

One of Colins many obsessions.  At Fred Meyers he has to hug each pole before we enter the store or exit the store.  At times he's okay at least touching it.  However, he will know if we missed one or skipped one in which a meltdown occurs due to his OCD like behavior.  These meltdowns you can't just 'snap' an autistic child out of.  No real redirecting either.  You must feed the OCD behaviors to what it wants in order to be satisfied as it's calming to him.  Just like his spinning and hand flapping he does all the time is a form of stemming.

The next step

The next step in the process for Colin's visits will be Occupational Therapy as well as Physical Therapy.  Occupational Therapy will help his Sensory Processing Disorder, Physical Therapy will help with his muscle tone in order to prevent joint damage even Rheumatoid arthritis as Stickler Syndrome is a degenerative disorder the Physical therapy prevents the hyper mobility of his joints furthering into injuries or more body damages.  Combined together, I hope he'll start to use his fork and spoon again.  He has gotten to the point of completely rejecting them altogether which leads to him needing to be fed assisted otherwise he has a complete meltdown with horrible anxiety as it frustrates him greatly.  It's not just something you can have a child with these problems 'snap out of it and just do it!'

Also, today is his third day back on Gluten foods as he has a blood test in 2 weeks.  During this time his anxiety, as well as hysterical behavior, stomach diarrhea with no regular stools, and lack of 'listening' has severely night/day increased.  I can't even explain how exhausting this behavioral change is!  It makes all of your senses entirely exhausted and completely out of energy not even at certain portions of the day.  When he's been on a strict diet his behavior has improved, communication has opened up, less fits and fussing, more eye contact, more focus in communication, and less sensory problems even meltdowns.  Not to mention less complaints about tummy issues and a whole another list full.

On another note, we're going to also get Logan screened for Autism as well as Sensory Processing Disorder as he has always had these similar complaints the previous pediatrician had turned us down on..like everything else he always turned us down on.  However, we have to still get some major Colin issues out of the way before we can even start to tackle Logan's again.  At least we're in good hands with a great medical 'support' system. 

I have to run to my health & fitness class for this evening.  2 midterm exams yesterday has extremely burned me out mentally and physically.   However, there isn't such thing as rest when it comes to being a parent of 4 kids--1 with special needs in particular!  Everyone have a wonderful evening.

On a side note, is it already Halloween tomorrow?!!! WHOLLY GUINNESS!!!

 

IEP results today

Today was the IEP review with Colin's Psychiatrist.  She is in the process of setting up another full clinic once again to gauge more activities and help for her clients.  We all feel very comfortable with her care and will continue on seeing her in conjunction with the Neuro Psychiatrist that I was able to not only get the insurance to approve with the help of the Psychiatrist but also the one we could get normally doesn't accept our insurance at all but he approved this one due to Colin's rare CDD possibility.  Such a huge relief after fighting the Pediatricians office yet mostly the insurance declining it for the past 2 weeks over as they "didn't see it necessary" for his care.  I've had enough of the Dr's saying no to me, and no will not be part of their vocabulary when it comes to something so important!

Moving on, the diagnosis is pretty much as discussed with her over the phone.  As mentioned she says he is within the Aspergers criteria thus diagnosing him with that.  I can't recall what the name of the 'scales' of 'criteria' from the questionnaire was. However, he did rate 139/150 [75 being the entry for the Aspergers criteria requirement which shows how high on that he lists] for one and 24/30 with 12 being the minimum requirement for diagnosis [?12? I think..].  She believes he might just have mild Aspergers and wants to observe him in a school setting to see how he social response and academically responds to the environment.  If it doesn't, or further regresses that would indeed start to show that he just has the average but very high functioning healthy socialization with his Aspergers or he might have CDD as things could further socially decay.  He has a diagnosis now, however, he is due to have a change in his Diagnosis within time.  As they say, only time will tell.  It's so hard waiting it out and at this time I find myself just enjoying those small things that used to occasionally bother me and even the repetitive discussions he rambles forever about just to carpe diem as who knows what the future might hold.  Enjoy it now, as no one is guaranteed tomorrow or to be guaranteed it to be the same as their yesterday. 

He also has Sensory Processing Disorder which obviously our next step we've been putting off is Occupational therapy and Physical Therapy.  We've completed most major diagnosis so now we're working towards the daily maintenance within our schedule since our schedule is less intense with appointments as it's been.  I would love one week with out 1-2 appointments or the need to speak with a medical professional.  My phone is always off the hook now!  Even while I was in NYC I was reciving inbound phone calls from school about my son Logan sticking his tongue at the bus driver to insurance declined the Neuro Psychiatrist.  My job is never done. 

She further discussed that he is looking to have signs of not only anxiety due to his Aspergers, vision problems, and Sensory Processing Disorder..but also he's showing signs of parent attachment disorder.  The Psychiatrist acknowledged my healthy attachment with Colin [well, cosleeping, long term breastfeeding, and attachment parenting has been a huge involvement with Colin in every aspect since birth, and taking time off from not working has been a blessing towards giving my son this deep base to life. Because of this, he responds to touch well as soothing which is rare to have within Aspergers children or even adults.  Thank God for all that time to 'attach' with my child!  I will have plenty of time to return back to working once this important basis in my kids lives is established. College or now!].  She as briefed on the situation between Mike and his parents and how they're towards me.  She is going to see both Colin and Mike to work upon attachment parenting and reconnecting and hard-wiring those connections of parent to child before further damage or the same path laid before Mike continues on between Mike and the boys. 

Fathers relationships between children is so important.  It's even more important for a father to be a positive mature example to their kids and know the detailed in's and out's of how to approach their kids in many aspects.  What more of a challenge than a special needs child with Aspergers plus all the rest going on with him?  Our family needs any healthy aspects as possible, not destructive or history to repeat itself again. Attachment Parenting Disorder If you think your family might have a problem with this as well, it's important to seek help and have your child be reassured.  The Psychiatrist even informed me that no matter how deep of a bond or attachment I have with my child, it won't make up for the detached other parent half.  Mike is open about this and excited to get started in reconnecting with his son.  He has been slaving away at college to score many 4.0's or make income that his relationships with his kids have slipped.  The more outside lack of support the further his presence with them has decayed.  I'm happy to see this possibility for that to be restored after all we've all been through.  If you think your family has something like this, get it checked out the sooner the better.  Healthy connected attachment parenting is so rewarding and will end with positively confident children not insecure false confident children. 

On other news, I have a 4 chapter midterm test on Monday along with 6 other pages of homework that I'm 4 pages into at this time.  I need to cram more information back into my brain and hope it sticks until I take my test on Monday!  I'm returning back to work on my Business Degree that I took a break off.  The last time I attempted to return to college was the same day I found out that I had placenta previa with Colin.  I was about 13 weeks along in his pregnancy, just laid off of work a few weeks prior to becoming pregnant with him, sitting down to discuss with a college advisor about transfers from previous college I've been attending and the degree of choice to attend classes.  I was receiving unemployment so my attempt was to score the free college tuition while on Unemployment.  That option fell through once I left the advising appointment I had bleeding for the evening and off/on for the next week that placed me on bed rest for about a month.  It was scary, but things turned out safely as my placenta 'migrated' out of the danger zone and bleeding stopping.  It was traumatic enough that I've took that time off from returning back into college. 

Once I had him I knew it wasn't time to return back to work yet as there was something 'special' about his learning abilities as he'd suck information in super quickly.  For example, by the time he was 16 months he'd say large words like umbrella and be able to tell you and point out what is upper case or lower case A-Z letters as well as sounds! Now with college, it's very refreshing to be back to work towards the ultimate life changing..and challenging goal!  This time with no pregnancies, but just kids medical problems to juggle now.  I just hope to find, afford, and juggle colin attending Pre-k now prior to Kindergarten to determine how everything will work out for him in Kindergarten.  

I'm off to study now.  Everyone have a wonderful evening and adventure filled Halloween week!  I know we will here.  We just visited our local pumpkin patch today.     





   

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!

  

Autism? or Autism?

As most of you know we've been on a question to determine what all is going on with Colin in terms of possibly Autism.  Certain signs were starting to surface, as new ones have developed, all pointing me in the direction of my intuition once again screaming inside me to say "GET HIM CHECKED OUT, DON'T TAKE NOW FOR AN ANSWER!!" Quite a few others expressed concern in his behavior but also behavioral changes.

The first lady I brought him to saw him for three sessions for which we had to pay out of pocket for since insurance didn't cover for him to get screened for Autism.  They rejected the insurance claim no matter how we tried to send it with what ever lingo.  We could only see insurance approved locations which was very basic services nothing in terms of diagnosing that we needed specially a specialized Psychiatrist that could diagnose him.  Also, IEP wasn't covered in our school district for Pre-k aged kids only Kindergarden since they don't even cater specialized services even to special needs kids.

We live in one of the top districts and honestly this part just floors me after the type of funding this school receives.  It's devastating to me really.  If he didn't have these conditions he could get in with out a problem.  Many Pre-k have actually declined his ability to attend because "he's too big of a liability" this little guy?  He's the most sweetest, happiest child you might know.  He's brilliant, just needs the special touch of a really good teacher or two with the proper patience and technique to help him excel.

On back to the original Psychiatrist we were seeing.  She ended up being a frustration.  We initially saw her to help with his anxiety due to Achromatopsia [day blindness due to low cone/rod cells in the retina makes him see nothing and go completely blind or see white/black, plus he can't figure out all of his colors well.]  It was founded that he doesn't have anxiety from that.  She is seeing another girl who has this same condition around the similar age who has extreme anxiety thinking her mom has abandoned her.  He will keep on walking like there is nothing wrong and perhaps that's just because this light condition is the norm for him.  However, it goes back to being a baby.  He never had separation anxiety vs. my other boys.  Very easy going, hardly cried, very easy to take care of, and loved to cuddle [touch soothes him much].

She didn't want to diagnose him with Autism.  She also questioned it because he showed signs but didn't want to diagnose him until he showed more true signs like by the age of 6-7.  I didn't buy it as many kids at the age of 18 months can even get diagnosed.  I pushed on for answer and needing a diagnosis.  She parted ways offering me to call the Legacy hospital in Oregon.  However, our insurance won't approve it nor will they even see us for at least 6 months with private pay since they're that backed up!  Her reasoning for him spinning in circles is that many girls at the park do it all the time.  I normally don't like to speak negatively of what others say, but this is a serious situation and his spinning isn't just something 'cute' he does, nor is he a girl with a dress.  I was a girl with a dress and know this isn't the same.  Looking on..



There was a few recommendations.  Many phone calls made.  Tons of online research.  It all lead me to a requirement that they had to have experience either first hand or both working with kids who have Autism.  There was a lady in Portland I found who has had like 12 years of running her own Autism clinic, has a special needs child herself, and has seen and interacted with kids with Autism for years.  She was very informative over the phone right away, prompting many questions as I juggled Colin with his outburst over the phone towards Braeten [he doesn't want him to touch the iPad, ever.], understanding and showed honest empathy towards my situation.  I could tell there was far more depth to what she does and decided to pursue her as his new Psychiatrist to get answers.  Things had been changing and answers needed to happen.

She saw Colin for 1/2 hour play during the first session while asking me questions during the beginning of the session.  She gave me a questionnaire to fill out at the end that was only 2 pages but told me we'd complete the rest over the phone for a 1 hour consultation.  That way we don't have to physically come back and can just complete it over the phone.  After 5 hours of Biology at school, I arrived home for food only to spend that full hour speaking with her over the phone about his quirky ways and changes, returning back to school to complete 2 1/2 hours of english in the evening.  Not to mention eye exams at Casey Eye Institute in the morning for Colin and Braeten.  That day was intense!  That all was followed up by the final session she had with him on this recent Saturday to make sure of certain things from him.

When we showed up for this session she handed me more paper work to complete which was around a 2-4 page questionnaire with some new questions.  During this time she went to the main room to 'play' with Colin.  Since he's never had separation anxiety he left with out a problem not even asking where I went and rather excited to play with this fun lady again.  She read him a few stories with 2 being logical and 2 other being more in an emotional story form.  She said like clock work he clung to her during the logical stories but emotional stories he went off playing 'tuning out' the story and checking out the toys and rambling off about their name, info about them, etc. she kept on reading but he didn't engage in the story at all vs. the logical story.  She said he seems to be aware of his emotions which is why she puts him as a mild aspergers right now.

When she was completed with him during this testing play time she called me back.  She started into telling me this situation has rather perplexed her.  Wow, does this sound familiar with Casey Eye on his mystery 'day blindness' that even our original pediatrician thought I was nuts for saying[seriously, that's why he's no longer their Dr!]!! He is showing signs of Aspergers but there is a few degrees that aren't typically characteristics of Aspergers but that's not to say that he doesn't have it she says he does but not as extreme.  She even said what ever I've been doing with him emotionally, verbally, and otherwise to keep doing it because he's the most high functioning Aspergers child she's seen.

However.  There is some questions she has about his diagnosis in terms of if he has Aspergers or possibly this extremely rare [1:100,000 kids] form of Autism called Childhood Disintergrative Disorder.  Where in the period of their first 10 years of life they actually regress and go into what they refer to as Classic Autism.  Where they have no bowel controls, speech is gone, etc.  They literally are sucked into that 'world' of Autism due to brain damage.  She said there is certain key things we need to be aware of that she'd cover in our need final IEP overview from her final diagnosis.  When or if these signs show up that we'd need to see a Neurologist to determine if that is really going on.  However, the more I've thought about it the more I just want to skip to the Neurologist now and see if insurance will approve it.  Do I really want to wait these precious years of his childhood trying to determine if he's going to go into this complete fog for the rest of his life with no more giggles, words, jumping for joy of happiness, smiles, oh my god..I want answers!  Now.  I already have to wait on pins and needles about other problems that happen with Stickler Syndrome now to think about 'waiting it out' to see if he shows up signs of this CDD to?  No, I want to know if he has it now.  If he does, I want to enjoy this time with him to the fullest.  I want him to enjoy it to the fullest.  He deserves it.

It is really hard to see his speech get worse.  This is one of the signs she has mentioned as to why she thinks he has it.  He spoke fluent and highly articulate even more so than his brothers.  However, around 3 years his speech dropped off to bad pronunciation of vowels and other letters.  For example his brothers name Logan was pronounced Woden.  At the age of 4 years he now stutters really bad and will go in and out of a conversation with out maintaining it like he used to.  He never used to stutter or speak this way.  You can work with him on correcting it and it doesn't work.  Not only that, it wasn't until his Gluten free diet did he not have a solid poop ever.  After 2 weeks on a gluten free diet he did.  It was a shock.  He still complains about his stomach hurting in the evenings or being hungry and hurting or even really thirsty.  They're going to check food allergies but the Pediatrician wants to rule that out to determine if there is anything else going on instead.  He has looked at peoples eyes less now.

Here is some information on it: http://en.wikipedia.org/wiki/Childhood_disintegrative_disorder       



  

Lots to quickly catch up on..

There is tons to catch up on!

Where to start?

August prompted my search for a final diagnosis on what is going on with Colin.  It takes tons of patience for me to become frustrated with a situation, however, things have become progressively worse with Colins behavior and communication skills which made me seek help for him.  It's actually regressed vs. progressed.  For example, prior to 2 years he was completely articulate but would develop large word vocabulary from an early age.  Such as 16 months he could already point at an upper case A or lower case a and let you know exactly what it was..not only that he would tell you ever letter on the vocabulary list what was upper and lower case if you asked him or he'd prompt it himself.  He'd do this in books, license plates on cars, at the store if he could see it, everywhere.  It shocked me as he was very precise.  None of my kids were spot on at such a youthful age.  Braeten, my youngest right now, doesn't even say nearly what he did yet it's actually very little what he really has to say at 17 months.

The age around 3years came where he started to regress on his speech.  He started to stop articulation of letters with complete fluid sentences with out a hitch to starting to say lots of words with more of what I call a round sound to it.  For example, L's were W's and G's were D's where Logan was now called Woden, etc.  I think I even have some of these durations on video.  Near the age of 4 he started to progressively stutter which become worse as the months pass and even now.  He now not only stutters but 'checks out' during conversations.  He will mentally dissolve from one discussion, forget it entirely, and be in his own world talking about something else.  This isn't a normal toddler situation.  It happens even in the simplest ways that you wouldn't think it'd happen which it happens for everyone.  You can tell him that you have a brand new Thomas toy for him and if he didn't 'snap' out of this 'world' he wouldn't respond to you.  It's hard.  You have to repeat yourself over and over and over and louder, use touch, soft words.  You just never know when he'll *snap* out of it.  Mind you, it doesn't last like 10 minutes but it does at least potentially last a good 1-3 minute durations which wasn't there prior to.

Now to tie this altogether on catching up to previous situations.  The perfect example of this 'fading into a different world' was when he fell down and hit his head on the ground in the back yard a few weeks back in September.  It was a terrifying experience!  I put him on the back porch to play which he normally does once his brothers get home as he goes onto a hyperactive streak.  He usually goes out there to play with dirt where he can spend hours just pouring a little pinch of sand into one hole and just do that for hours.  Today, however, he had fallen down [which he's very clumsy as part of all this] to hit his head on a rock near a swing.  He was crying and blood was pouring out of his head like crazy when I heard him crying.  I was in the middle of making salads for the kids dinner but thankfully I stopped abruptly to see what was going on.  He turned around to have his face entirely covered in pouring blood, clothes soaked, the chair he was leaning over was entirely soaked in a pool of blood where you sit down on..it was just a terrifying bloody mess all around.

We called 911 promptly to stop the bleeding but also rush him to the ER due to his Stickler Syndrome.  With any bumping into walls or ground or any impact even as simple as jumping on a trampoline he can have his retinal detach or have it start to get holes on it.  When the paramedics arrived they asked me questions, asked him questions, evaluated him, cleaned him off, strapped him to a gurney and sent him off to the ER to get examined.  During them questioning him to figure out his response he wasn't responding promptly.  He was indeed out of it after the great loss of blood but he was even more out of it.

They were concerned and I expressed my concern.  I mentioned to them that his behavior has changed like this recently but right now it's worse.  They kept asking me the questions as if I didn't answer it as they wanted to know if he was worse right now and I said yes and explained the autistic side that he was also being screened for.  They were concerned with his behavior in not responding well verbally and frustrated, as was I with the situation and them asking me this questions over and over as they didn't get 'it' with the possible autistic side of things.  Bottom line, he wasn't acting normal.  No major brain problems was going on but he was far more 'out of it' than normal.  Very loopy.  This behavior has recently started but it's getting worse, what ever it is.  The paramedics being baffled also shows that he isn't responding 'normal' to people.  They were asking questions, he'd look at them in a fog and wouldn't answer.  Same that goes for anyone else.  Even his words with communication is getting fewer and fewer.  This evening he came up to me and said "line" with a piece of marble run toy.  I asked him what it was and what it was for.  He said "present!" Further asking him what for, he said "It has a spin thing on tha-tha-tha-tha thaaa endhh" What he was getting as is that he brought me a present in the shape of a line which was the end part that spins off of the Marble run.  He's 4 years old, and this is something you think he'd say at 2 years old not 4.  Not always does this happen, but prior to 4 years old this never happened.

Sensory problems are a big concern.  He has been officially diagnosed with Sensory Integration Disorder or also known as Sensory Processing Disorder.  It's where his skin feels like it's on fire and the 'volume' in his brain cranks up his sensory to be louder than they should.  This applies to light, sounds, sights, touch, feeling, taste, all of that.  Some days he wears shirts other days he doesn't do well with them and goes naked after trying 5 different shirts.  Some pants hurt him as they're 'owie, too tight' or scratchy.  Shirts with tags are the worst, or thermal long sleeved shirts feel like pins and needles all over him.  Food has been an issue since he was a baby.

Introducing foods was a joke.  I had many other first time mommies trying to tell me how to properly feed him [this isn't being sarcastically said, this is what happened] but that wasn't the case.  You could puree it until there was absolutely no texture.  If the taste or texture wasn't just so, he would spit it out and cry out of frustration and pain.  Now, he could eat chips on day and be fine.  On the days where his shirt is off, he'll be chocking on a chip screaming that it hurts and is owie and we'd have to go to something more simpler and softer like fruits or some veggies.  Same goes for meats, breads, anything with texture.  Resulting in his now gluten free diet.  He actually has had his first solid poop in his entirely life with a gluten free diet!  TMI, but it's a huge break through.  We're not talking constipated or over the top diarrhea that he has always had.  His sensory issues had gone down a little with communication actually getting a bit better.

We're going to stick to this diet but also the oat, barley free on.  I can't remember the name of that one.  If some one knows, feel free to post it in the comments below.  The Psychiatrist we have in Portland believes in holistic approaches which is exactly what I want and she completely agrees with this diet after 12 years of running her own Autism clinic.  She even says any means you can holistically help 'cure' some of these things the better off he'll be.  I couldn't agree more! His non stop nose running had actually started to taper off to.  He has had non stop issues with that since birth.

There's more I will elaborate further into but that is a little bit off of my mind to document for now.  I will write another blog shortly while I dual task a few things this evening.          

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.

 

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...       

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!