2012 appointments with 2013 more to come

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

Future appointments shall be made with these specialists and needs: 

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

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

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

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!

Another child's appointment today.

Today was our 6 year old's Pediatricians appointment today.  With the new Dr we have on hand we've gotten more accomplished in one day with him than we have in years combined with any other Dr or even urgent care combined with these kids.  Such a relief!  He even asked of I [the mom] had Child Care experience and also implored how proactive we've been in researching this new diagnosis of our son having Stickler Syndrome.  We're going towards screening all of our children to see if they have what perhaps different mutations or variants of it or perhaps have it to a lesser degree.  All great info to know prior to hearing or vision problems when it all can be managed perhaps prolonged more so than prevented.  But also, so they know for their own fertility purposes if they could additionally carry this onto their own children some day.

TODAY IS NATIONAL DNA DAY! Celebrate by showing your ribbon support of Stickler Syndrome on your profile on Facebook or sharing it on your profile for others to view.  Thanks!

We did find that he has above perfect vision but still a questionably concerning abnormal Astigmatism.  Something even the eye Dr's have been baffled about him having such perfect vision but yet have such high Astigmatism in his eyes, which creates an extreme sensitivity and blur to his vision with out glasses.  Of course, we've been trying to keep his glasses unbroken and already have gone through 5 pairs.  Perhaps if they changed these glasses better parents might not be coming back as often?  Most of the pairs we've tried between all 3 of our boys have actually been built cheaper than our own glasses.  How does this work?  This shouldn't be this way when kids are extremely active and damage them more frequently.

An interesting information about Astigmatism is that Conner, our oldest, does not have this.  Colin has it.  Logan has it.  I've developed it from age 13 years up but never had it prior to.  Mike, the father of my last 3 children as the oldest is from a previous marriage, also has found to have Astigmatism as well.  Our youngest we have no idea on yet.  But I'm curious to find out as he has the same eye as Colin that moves around lazily ever so slightly.  Our youngest also has the major popping joint problem that Colin has which is why it concerns me even more right now to get all the children screened.  I want to make sure it's only Colin who has it. However, even the geneticist couldn't help but point out Braetens similar facial features and flat bridge [non-existing] nose bride.  I do not want to think the worst, or even think the worst, but I obviously just want answers and to stay on top of it all proactively.  Thankfully, this new Pediatrician is on the same page and has sent paperwork over to referral locations immediately.  Within 3 hours, I've already have had 1 phone call from the referrals.  Impressive, if you ask me!

We're additionally getting hearing screened, as well as an unexplained 1-2 time a month lung condition he's had since about 3 years of age where he has Asthma like symptoms where he can't breath well turns yellow and wheezes immensely bad.  He has always complained about being fatigue 'I'm too tired to walk, I just want to site' with working out too much which can be a red flag where as other days he is full of energy.

He's also going to be seeing the same Neuro Ophthalmologist that Colin has been seeing lately.  Just to view his vision and see what she thinks about his vision in relations to Sticklers, etc.  The geneticist, if insurance approves all of our children to get screened for Stickler Syndrome, they'll still need all of this information as well to make a proper diagnosis.  Thus, we're doing it now and the Pediatrician has rocked so he's been actively sending referrals for everything out as well.

That is all...for now.  I might write another one later as there are a few additional details I can write about that has been going on in addition to this.  Listed below is details on what Astigmatism is:

As informational as we try to be within my posts...here is a little blurb about what's Astigmatism: 

Astigmatism [source]

Astigmatism is a type of refractive error of the eye. Refractive errors cause blurred vision and are the most common reason why a person goes to see an eye professional.

Other types of refractive errors are:

• Farsightedness
• Nearsightedness

Causes, incidence, and risk factors

People are able to see because the front part of the eye is able to bend (refract) light and point it to the back surface of the eye, called the retina.

Changes in the length of the eye, or the shape of either the lens or the cornea make it more difficult for the eyes to focus light. If the light rays are not clearly focused on the retina, the images you see may be blurry.

With astigmatism, the cornea (the clear tissue covering the front of the eye) is abnormally curved, causing vision to be out of focus.

The cause of astigmatism is unknown. It is usually present from birth, and often occurs together with nearsightedness or farsightedness.

Astigmatism is very common. It sometimes occurs after certain types of eye surgery, such as cataract surgery.

Symptoms

Astigmatism makes it difficult to see fine details, either close up or from a distance.