Life of a toddler living with a genetic conditions called Stickler Syndrome, Achromatopsia, Aspergers [suspect of having rare form of CDD], as well as all the other health problems that happen along the way. This is to document Colin's genetic journey and to help inform other parents going through the same. Please follow!
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:
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.
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.
------------------------------------------------------------------------------------------------------------------------- Cone Dystrophy is: SOURCE
A cone dystrophy is an inheritedocular 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!]
Achromatopsiasare 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!
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.
