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!