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
Showing posts with label genetic condition. Show all posts
Showing posts with label genetic condition. Show all posts
Tuesday, October 9, 2012
Friday, July 13, 2012
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.
2nd SOURCE [this website is extremely helpful with visual examples of what these eye conditions each look like!]
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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!
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.
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.
-------------------------------------------------------------------------------------------------------------------------
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:
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.
-------------------------------------------------------------------------------------------------------------------------
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!
Saturday, July 7, 2012
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.
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.
Wednesday, June 13, 2012
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.
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!
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.
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!
Tuesday, May 22, 2012
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...
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...
Thursday, April 26, 2012
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.
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:
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 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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