Another and new diagnosis.

Today was began with collecting all the final bits, pieces, and distractions for the kids as we all had to haul all 4 kids with us to an initial screening to Colins Psychiatrist.  The older two were unable to get into a local play area which means they were instead distracted by the good old virtual baby sitter for an hour called Nintendo DSi.  They hung out in the waiting room area while we were back in the actual room for this lady the pediatrician recommended.

Colin was initially greeted by her with a warm welcoming "Hi, Colin!" that he quickly looked down with out greeting her back to ran away from singing one of his many random on the whim songs he creates in different changes of situations.  Settling with her unique pile of toys within the room.  He started to self entertain as her initial screening of us parents began.  She started from how the pregnancy went towards how he behaved during baby years, toddler years, up until his current age of 4 years.

A brief overview of what was mentioned is that he has never had separation anxiety.  Never.  I could leave for movies, with childcare, random strangers..and never would he ever be upset about this.  This is a strange sign within babies and infants that has always set a red flag off within me internally.  I mentioned it to previous pediatricians but it was always discuss as perhaps it was just related to his unexplained vision problems that he couldn't see me or hear me which means he never became upset at my dismissal.  The thought I always had towards this perspective is that..how come he never fussed ever after he noticed I was removed from the same room setting and he was in with complete strangers even casual sitters?  After having 4 kids..something isn't right about that.  He was always a low key casual laid back little guy.  Very well mannered but also limited because of his vision problems.

Another situation is his extreme intelligence.  This isn't a problem.  But it can some times be a sign related to Aspergers or certain Autistic levels.  For example, Braeten at the age of close to 16 months is hardly speaking to the level that Colin had.  Given I focused on a consistent daily basis pointing out letters, numbers, uppercase vs. lowercase, and other educational information such as shapes..he caught on immediately.  At 16 months of age we went camping where he was trying to walk around with my guidance.  Leaning up against some ones vehicle he started to repeat the letters on a license plate I pointed to.  I don't remember exact letters but I just recall him him telling me X..upper case X say "Xsss" in a habit form.  He continued to tell me the additional letters in the same way.  "Lower case W..says "Wah" and such.  This was impressive!  He is also reading 3 letters words within the age of 3 years in additional to being able to properly count items at this early age up to 20.

This isn't something that even his 6yr old brother was doing well in school with, let along my oldest when he was starting out in Kindergarden.  He has been catching onto basic 1+1= discussions between his older 2 brothers as he greatly wants to keep up.  He can also tell you since the age of 2 what each dinosaurs name is very rapidly as well as their technical background.  Same goes for Thomas now. He can tell you all about the characters and is completely obsessed with Thomas on the iPad.  If a show ends, he has a complete meltdown [this has always happened for years with any favorite shows he has to watch obsessively such as Dino Dan].  I even recorded a few videos over the toddler years of his extraordinary gift he's had after being blown away.  He can even typically tell you what they eat, and what time period they're from.  If you try to confuse him with joke he gets extremely provoked into a frenzy that is hard to get him out of.

These are just a few things he has had.  Sensory has been a huge problem but researching it independently given Aspergers [High functioning Autism, only about 2 years ago was it finally placed within Autism spectrum because based upon certain mannerisms they share.] runs within my family and one known case upon Mikes 2nd cousins, it's highly likely what might additionally be going on with him.  Asking others who have diagnosed kids with different spectrums of Autism really gave me a final "yes, this need to be screened..immediately.  I want a yes or no."  The earlier you find it the better the outcome as everyone has said.  My own brother has Aspergers which there was plenty of similar mannerisms, habits, obsessions, sensory concerns, and more that really put up the red flag for me.  I've worried about Logan in this regard as well.  Perhaps he has it to a lesser degree or not at all.  But I might have him screened just to make sure.

This is an image of Colin and my brother Brady camping last year near Fort Stevens Oregon. My brother has been diagnosed with Aspergers which is what they're screening Colin for.  Ironically, Colin has his favorite Dinosaur book on hand. He loved all the detailed info you'd read to him from each page and memorized it almost instantaneous. 

Phew...already a long blog post..but which blog post isn't long when it comes to something diagnosed or determined or to be determined?  It helps me track it in addition to Colins spiral notebook I've started to track everything within.

Aspergers.  What is it? [Note: we don't know for sure YET if this is what he has, yet.]

Wikipedia states:

"Asperger syndrome (AS), also known as Asperger's syndrome or Asperger disorder, is an autism spectrum disorder (ASD) that is characterized by significant difficulties in social interaction, alongside restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. Although not required for diagnosis, physical clumsiness and atypical use of language are frequently reported.^[1][2]

The syndrome is named after the Austrian pediatrician Hans Asperger who, in 1944, studied and described children in his practice who lacked nonverbal communication skills, demonstrated limited empathy with their peers, and were physically clumsy.^[3] The modern conception of Asperger syndrome came into existence in 1981^[4] and went through a period of popularization,^[5][6] becoming standardized as a diagnosis in the early 1990s. Many questions remain about aspects of the disorder.^[7] For example, there is doubt about whether it is distinct from high-functioning autism (HFA);^[8] partly because of this, its prevalence is not firmly established.^[1] It has been proposed that the diagnosis of Asperger's be eliminated, to be replaced by a diagnosis of autism spectrum disorder on a severity scale.^[9]

The exact cause is unknown. Although research suggests the likelihood of a genetic basis,^[1] there is no known genetic etiology^[10][11] and brain imaging techniques have not identified a clear common pathology.^[1] There is no single treatment, and the effectiveness of particular interventions is supported by only limited data.^[1] Intervention is aimed at improving symptoms and function. The mainstay of management is behavioral therapy, focusing on specific deficits to address poor communication skills, obsessive or repetitive routines, and physical clumsiness.^[12] Most children improve as they mature to adulthood, but social and communication difficulties may persist.^[7] Some researchers and people with Asperger's have advocated a shift in attitudes toward the view that it is a difference, rather than a disability that must be treated or cured.^[13][14]"       
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During this screening she pointed out but also asking if he ever comes up to me to get my attention by asking "mama?" or with his words.  She pointed out that it appears he gets our attentions mostly by physical contact.  During this appointment he ironically did his infamous upside down on his head laying towards the back of the couch he's done for years. She said this is most likely soothing to him but he's probably also trying to get my attention to ask something or just trying to self sooth.  As he also did during this screening his additional spinning in circles at least 3 times with his head to the side arms out all the way for long durations with out getting dizzy.  He has never really tried to get my attention in a verbal way like the others do.  I've never noticed that!  She was completely right.  He does this with his brothers as well by tackling/tacking out of their hands with them to get his way vs. expressing it no matter the follow through on my end.

Next Wednesday is his appointment to meet with him only.  She asked if he'd be ok with this.  I told her most likely as he's never had that separation anxiety.  This was a huge consideration for screening with Autism as this lady see's another client that the Dr recommended solely because the other girl has anxiety from Achromatopsia and see's her to deal with this anxiety it creates.  For example, if they leave a store it becomes extremely white/bright that she can't see a thing [like Colin] but she panics thinking her mom left her all alone.  Colin doesn't have this.  Instead he keeps on trekking on forwards with no emotional concerns about this change in his environment.  Perhaps it's because he's become used to it?  I've always thought it was quite interesting.    She also said she see's no need in him having the anxiety that this other girls has with Achromatopsia with the 'day blindness'.  Of course if there is ever the need she will express it or I will to her.  He just has this determined way of carrying on with no problems but does complain of the eye pain in bright settings.

This leads me to another interesting path.  
What Preschool will accept him..now?  How much will it cost to even try to get him into one that will accept him?  How will be accommodate his behaviors, Stickler Syndrome with bonking into things for possible Retinal detachments [I'm a pretty laid back mom, so this extreme fear is not something fun to hold onto! Something I'm working on as I don't want to leave in complete fear of everything and put my poor child in a bubble!], light sensitivity problems..combine those altogether..what type of class will be end up being in when it comes to actual Kindergarden years and after?  I don't want him to just get shoved into Special education if he doesn't need to be.  I don't want that to hold him back if their studies is not as intense as he'd need to stay interested in his studies.  Perhaps that's just ignorance by saying that..but it's a complete concern of mine.  I'm not about to have him stuck backwards because of certain learning curves and naturally want the best for him.  He has such amazing potential that needs to be cultivated upon with the right teachers!  I really do think amazing things are in store him for him despite all these challenges in front of him.  All this combined..can he even get into any preschools as he has an extreme problem with depth perception that makes him fear sitting on the toilet so potty training has been nothing but a constant struggle for 2 years now. He just isn't interested in it either no matter the rewards.  It becomes a struggle to which I have to pick my battles upon.

That is all for now..I have to attend to him as he's not sleepy yet!    


         

Phone call with the eye Dr.

Yesterday I was on my way to Jantzen Beach Oregon when my long waited for returned phone call came ringing in.  It was Colins specialize Eye Dr.  We've been playing phone tag all day long.  It was great to finally connect as she's a very busy woman!  We were able to briefly cover the findings with the red lenses, and discuss which direction to head next.

She says that it's around 90% likely this is what is going on.  Achromatopsia.  It's safe to say that he most likely and highly likely has it.  Of course we're still going to be running future ERG's to ensure this is exactly what is going on, thus, he'll return for another ERG in another around 4 months time and 6 months after to determine but to also rule out the possibility of him additionally having Cone-Rod Dystrophy.  Part of my question is if both of these can happen in conjunction together.  She says not very likely but given he already has other problems going on it's not ruled out as a likely candidate in addition or in combination with Sticklers, Achromatopsia, and what else he has going on.

There is special tinted red prescription glasses that he'll be getting.  We have to go to the actual Portland Casey Eye Institute location for them to specially create these for him.  As promised from our eye dr, a lady followed up with me via the phone [It went to my voice mail, opps! However, it also didn't ring through..] leaving a rather helpful detailed message explaining the future steps in all this.  She highlighted that going forward he'd have dark red for outdoors with light red for indoors.  It all determines which glasses as to where he's at in his environment combined with how bright the lights or low the lighting is to him.  To bad transitional lenses don't cater to this type of reds!  I've already asked numerous local stores..so the answer on all that is no.  The local stores don't have the accurate reds to cater to this type of things but they do have pretty much 2 shades max but it doesn't work with Achromatopsia.

The huge thing that is still unexplained is his depth perception problems.  I completely forgot to discuss this with her over the phone.  However, I plan on doing such in a little over a month when we see her next.  Most of this they said would go away with glasses--but it hasn't..it's still there.  It influence his ability to properly potty train as he freaks out of fear from falling off of the toilet, thinks dark lines in the stores are stairs so will crawl onto the ground backwards to go down them [Annoyance: The looks he gets for this is crazy, as he's getting older now to no longer be doing this any more.], or shadows are stairs.  He'll even run into stop sign poles that are clearly in front of him.  Something is going on with that.  As he can see up to 10 feet away with glasses, and his vision has actually improved with glasses.  Yet, they're still -9 in each one.

At this time it's safe to say he has Achromatopsia but they want to check into his vision further as time progresses.  We have that base line in case Stickler Syndrome creates Retinal issues such as holes, rips, or potential detachment.  Let's just hope it doesn't get to this point!

Thursday is his screening for Aspergers...I'm off to bed for now.  Tomorrow is a new day.




 

Stop to count the blessings in life.

With all that goes on within our daily lives both the good and bad it can often times easy to dwell within the unknowing and sink into sadness.  However, I'm a strong believer in perspective, outlook, choice, and ultimately the power of the positive mind.  There has been many deep paths tread upon in my life already that many haven't even seen a glimpse into.  Shall I let this end my focus on the power of a positive mind?  No.  It is what has gotten me through many deep struggles which enabled me to rise above.  Smell the flowers rather than focus on the dark looming clouds over head.  Have faith that when the rain comes it can also still help those vivid flowers.  Stay focused on what matters!

This is an image I took of Conner 2 summers ago.  Inspired by the giving tree!

Same thing applies within this blog.  I might grovel into the depths of daily life with a..now I can officially say this term I never thought I'd ever say..I have a special needs child.  This blog is more of a way to track situations, appointments, and ultimately vent upon the daily struggles we all run into with this beautiful boy in our life.  Heck, just within the daily life of a mother with 4 handsome boys I will humbly speak to say that isn't a simple journey.  It is a rewarding one.  Shall I let the 'looks' or 'comments' from complete strangers let my day become sour? Sure it bothers me from time to time.  However, it's typically the unintentional ignorance that strangers or even casual friends or family display towards this situation.  My focus is to let it go..and move on.  There are those who look at Colin with love and understand.  That alone is enough to release this frustration to journey onwards.

With plenty of research, educated professionals assisting in this boys complex body, support groups or friends/family who care to take the time to care, and of course faith--it has allowed me to get to the point of writing this blog.  Never take things for granted otherwise we never know when it will be gone or if we do that situation wrong make sure you don't regret your choices.

Some of the huge things in life that has taught me certain virtues of this would have to be: Years of running long distance casual and competitive, great friendships, supportive family members in dire need of support, being a survivor of domestic violence/abuse, years of being successful top sales experience, oh..and many more deeper reasons in life.  I'll leave it at that.  My close friends know the greater depths my life has been.  I know that often times it's too much for others to hear whereas it makes them uncomfortable.  Not the direction I'd like this blog to go.  Thus, we'll leave it at that.

What are a few blessings I can count?

• Having 4 handsome, happy, and for the most part..most of them are pretty healthy otherwise.
• A roof over my kids heads.
• Food on the table.
• Bills being paid, and some times being paid 3-6 months in advance for less stress.
• Choices.  Simplification.  Options.
• A vehicle to get from place to place. Thankfully, my dad cleaned it & fixed it recently!
• Technology.  It's like a gold mine.  If you look, you will find potential. If you ask, you'll get it.
• Love--it's more than just a word or feeling. It's should encompass everything we DO.
• Watching my boys learn by my direction. Very rewarding! Exhausting at times, but SO rewarding!
• Music--it allows the stress to melt, and my mind to wander into euphoria. Even for 2-4 minutes.
• Possibilities! If we don't take them or ask for them or find them..they won't be there. I enjoy this scavenger hunt in life.  
• iPad--this has helped Colin 'see' things he can't see or becomes frustrated from not seeing.  I can expand the image, and even give him firework apps so he can 'see' this & control his own!
• Friends & Family--I can't even express it enough.  Just being there, asking how things are, or a few kind words goes really far for me right now.  I savor it to surf out the dark clouds!  For those asking and involved in trying to help & find medical answers with Colin--thanks SO much!
• Life.  Need I say more?

This pretty much sums it up.  I could keep going on.  But these are a few things that make me smile, make me happy, and keep my eyes focused forwards to keep treading on which ever next path might happen!

Thanks to everyone who takes the time to read this.  All of us greatly appreciate your support.  Silence with those who you need doesn't benefit us.  Withholding love isn't going to benefit us.  For those who help with these blessing we all truly appreciate you in our lives and love you all very much!

Do not take your lives for granted.  Or any of those small moments.  

Carpe Diem!

Thank you.

Cambryn 

Colin has turned 4 years old!

Today was a postponed Colins 4th Dr's appointment.  We had it scheduled months in advance for 2 weeks prior, however, considering there was 5 full pages of questions and situations to be discussed, it had to be rescheduled since it came down too close to the wire with other daily schedule activities to even attempt it.   Today was the rescheduled appointment and it went rather well.  As a matter of fact, I'd consider it to be extremely well! 

Colins dinosaur t-rex balloon his brothers paid to get for him at the local Farmers Market!

First off, I reached into the kids Back to School stash of supplies I stock up on every summer to help the kids supplies and teachers year round.  I picked out a non-typical spiral notebook which is orange and had as hard plastic cover to it.  On the cover it has Colins name listed upon it and already has 5 pages full of questions for the Dr's appointment today.  It's intended use is to take notes, list all his Dr's and specialist appointments plus questions plus solutions so this whole journey can be thoroughly tracked.  It becomes far to busy that this is the best method to look back at my notes in the case the Dr's forget to write their own.  I've had enough of the negligent Dr's and ready to take thorough action from here on out to rather simplify things in case messy situations might occur.

At today's Dr appointment Colin hid in his 'cave' to help his eyes from the bright light inside and played in this 'cave' with his batman toys. It was funny and cute, but also sad when you stop and reminded by why he has to do this in many places on his daily life.  The Dr chuckled at him saying he looked like a birthday present wrapping paper!  

This Doctor is extremely reassuring.  Not only does he have 3 boys who are in or out of high school to college ages.  Reassuring from some one who has multiple vs. just one child [which we've had before].  But his nurse has a son with a rare genetic condition called Peters Syndrome which there is like only 8 cases in the world, for which we can relate on the vision problems with our kids.  He also expresses empathy and compassion for all that has been going on and understanding.

This is huge!  I can't even express how frustrating it has been over years KNOWING something is obviously wrong and no matter your attempts Dr's and specialists look at you like you're making things up or just clinically crazy--specially with the light blindness and shadows he climbs down like it's stairs.  So frustrating when you combine that with all the rest that you have to juggle in daily life! What is a breath of fresh air is getting this extremely productive help with my son medically, getting answers, and finding solutions to preventative certain aspects of all that he has going on.  Once he completed the visit he showed me what he was going to do and I've already started to receive phone calls from referrals within the first hour being home.

The results of the appointment today was this [Simplified! Details to be revealed as time proceeds. Feel free to ask about it to me directly for greater detail if you're curious prior to my potential blogs.  I'm completely open to discussing all that goes on with this and want to really help others as much as possible!  I'm all about empowering others when ever possible.]:

•  Make sure info is resent to Insurance due to switching of companies.  It's been 4 months since the paperwork was sent out to insurance.  Not sure if we have to reapply and wait another 4 months or more to get some where again.  Start all over on the waiting game, pretty much.  Unless we can come up with the funds prior to with a fundraiser.
• Additionally send over to Geneticist a request for blood testing to determine if Colin might be a carrier or have Ankylosing Spondilitis that runs in Mikes side of the family & potentially Mike to.  Mike is Colin's father.
• Send request to Geneticist to determine if Colin has the defective gene that another family member has called MTSH. This I need to research a bit further in greater detail so info on it to offer out at this time is a bit limited.
• Discussed Achromatopsia with him, and turns out he has another patient who is similar age who has this!  He says she see's a psychologist to help with fears and anxiety of thinking her parents are completely gone when they go outside into the sun and such.  Colin doesn't have this anxiety, more so pain from the sun and keeps on walking to determine where he's going with vision or no vision in the sun.
• Depth perception--he is also not sure what is causing this. I have an idea to discuss with Casey Eye Institute as they said within time glasses would correct it. However, it's more in depth than just low or poor vision.  He runs into street poles, thinks black lines on the ground is stairs or shadows so will get on the ground and crawl backwards [this gets a bit more people gawking at him as he gets larger and older. Poor guy!], and gets scared he's going to fall off of the toilet as he thinks he's too high up and is going to get hurt..thus, he still isn't potty trained.   It has been a struggle, and only you know unless you're in my shoes what it's like--so potty training tips I can tell you won't work.  I've tried them.  It's a complete depth perception problem.  Not your typical potty training situation! 
• I have a referral to Shriners in Portland to help with Occupational Therapy, Physical Therapy, and a Rheumatologist to get a base line of his bones/joint health at this time.  He says they deal with special cases of individuals and children specifically with uncommon conditions.  Bingo!  Perfect.  I don't mind traveling for that--understanding is a huge virtue we all need right now.  This will help with how his spine curves to keep an eye on it to.
•  Referral to a local Psychologist to screen Colin for Aspergers plus to help with some basics to help him deal with his anxiety from this extreme light sensitivity pain he experiences. 
• Most likely related to Shriners for screening purposes but we're going to get Xrays done to determine the health of his bones/joints and see how he's doing with potential problems in that department.  Specifically his spine popping.  I've read that other Stickler patients can have their spine discs slip constantly because of their bodies poor distribution of collagen that it creates a 'softness' within the spine and very minor but I've read those that had to get their spines infused together with pins and such to prevent further spine damage.  Better to know what is going on than later on after that fact!  When things change they have this base line to go off of to determine how far it's progressed.
• I gave the Dr the Stickler Syndrome video website to help him determine what it is and how to further potentially diagnose it with other patients, or prevent from further damage happening in other kids lives by knowing what to look for--before it's too late with complete blindness or deaf and more!
• Referral sent out for food allergy testing to determine if his stomach problems are due to certain food allergies.  This Dr has a major kudos in my mind because of this!  Colin complains of tummy problems and has tons of bowel problems and has never had things normal in that department...ever.  He has been growing steadily ok, however, he is starting to reach a peak that is starting to go downwards so the Dr wants to check into this now vs. later to see if we can help it and allow his body to properly get nutrients that needs to be received during important development years.  One of the questions he has is if he ever has had reflux problems as a baby or now. I don't recall, but I believe he did occasionally. Given being a parent of 3 prior, I was good at knowing how to slow his feedings and burp to prevent these things so I'm sure I didn't see this because of this. 
•  Lab testing to check into his current iron levels, Vitamin D level checked, and a comprehensive metabolic panel to make sure his organs are functioning fine.  I need to return for that since I ran out of time today, darn! I want to get one of these things checked off of the list!!
• I most likely missed something, but I actually don't think I did...that is all for now!

Now to stop the phone tag with Casey Eye Institute to reach them about getting him red lens glasses for this likelihood of Achromatopsia.  As much out of the way as possible and checked off of the list that I can do...the better! 

     

Why is it important to know family medical history?

Why is it important to know my family medical history?

SOURCE OF THIS ARTICLE

A family medical history is a record of health information about a person and his or her close relatives. A complete record includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.

Families have many factors in common, including their genes, environment, and lifestyle. Together, these factors can give clues to medical conditions that may run in a family. By noticing patterns of disorders among relatives, healthcare professionals can determine whether an individual, other family members, or future generations may be at an increased risk of developing a particular condition.

A family medical history can identify people with a higher-than-usual chance of having common disorders, such as heart disease, high blood pressure, stroke, certain cancers, and diabetes. These complex disorders are influenced by a combination of genetic factors, environmental conditions, and lifestyle choices. A family history also can provide information about the risk of rarer conditions caused by mutations in a single gene, such as cystic fibrosis and sickle cell anemia.

While a family medical history provides information about the risk of specific health concerns, having relatives with a medical condition does not mean that an individual will definitely develop that condition. On the other hand, a person with no family history of a disorder may still be at risk of developing that disorder.

Knowing one’s family medical history allows a person to take steps to reduce his or her risk. For people at an increased risk of certain cancers, healthcare professionals may recommend more frequent screening (such as mammography or colonoscopy) starting at an earlier age. Healthcare providers may also encourage regular checkups or testing for people with a medical condition that runs in their family. Additionally, lifestyle changes such as adopting a healthier diet, getting regular exercise, and quitting smoking help many people lower their chances of developing heart disease and other common illnesses.

The easiest way to get information about family medical history is to talk to relatives about their health. Have they had any medical problems, and when did they occur? A family gathering could be a good time to discuss these issues. Additionally, obtaining medical records and other documents (such as obituaries and death certificates) can help complete a family medical history. It is important to keep this information up-to-date and to share it with a healthcare professional regularly.

For more information about family medical history:

NIHSeniorHealth, a service of the National Institutes of Health, provides information and tools for documenting family health history. Additional information about family history is available from MedlinePlus.

The Centers for Disease Control and Prevention’s (CDC) of Public Health Genomics provides information about the importance of family medical history. This resource also includes links to publications, reports, and tools for recording family health information.

Information about collecting and recording a family medical history is also available from the National Society of Genetic Counselors.

The American Medical Association provides family history tools, including questionnaires and forms for collecting medical information.

Links to additional resources are available from the University of Kansas Medical Center. The Genetic Alliance also offers a list of links to family history resources.

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.