Friday, April 20, 2012

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:

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.

 

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