Genetic Testing

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Has anyone here had genetic testing for their Autism / ADHD or other conditions?

I've been referred to a geneticist because of medical and developmental issues in my family.

The results will be helpful in knowing our predisposition for various illnesses, and the best treatment.

I am curious about genetic testing and wonder about the utility of it, but to uncover hidden genetic conditions that affect one's health seems like good use of available information. I have not had genetic testing done and have heard conflicting reports about online genetic reporting services that one can get without referral to medical reports. It is my understanding that many online reports are not accurate or actually reliable. It will be interesting to see others' replies . If you do get tested, it would be interesting to get your feedback about the process and if the testing proved useful to you. Good topic for discussion, thank you

Thanks for your input.

I wouldn't do the online ones either. They're not personalised to your existing health history and they cost a lot of money. If you found a mutation you would still need to go to doctors and have them interpret it or add it to your care plan. I'm sure a lot of doctors wouldn't even take it seriously without hard data and recommendations from a geneticist. I picture it being more trouble than it's worth. I'm kind of curious about DNA testing for Ancestry but I'm not keen about surrendering my DNA into a data pool. You have no idea how it will be protected by private companies.

My Autism and ADHD are genetic. That's a given, although we don't know which mutation is responsible. It's inherited from my dad's side of the family. There are a myriad of recurring health conditions and atypical syndromes on his side. My brother, my daughter and I all follow the pattern. I was born with several birth defects which relate to specific genetic mutations common in my paternal lineage, not the least of which are ASD and ADHD. I've already suffered two strokes from the associated blood clotting disorder and my daughter has a chronic medical condition which has genetic origins. Isolating the mutation(s) will identify defects in my methylation ability of vitamins, minerals, medications, and amino acids.

Everyone is born with genetic mutations even if they are NT. Our goal is to name mine and use the information to inform my future health care and that of my daughter. She'll be tested after I am. It's all free because I'm going to a medical specialist instead of using an online test.

At this point I don't even know the date for my appointment with genetics but the referral was made. I've already done some preliminary blood testing on heavy metals and environmental toxins like Mercury and Arsenic. I had a strong exposure to many poisonous chemicals in utero and in my first years of life. That's something else which most likely contributed to my Autism, but there's a genetic link as well because of my family history.

I'll be sure to post whatever I learn.

Here's an article I found that might be of interest to some of you.

https://www.spectrumnews.org/features/d ... ic-people/

Sorry I don't know how to quote the text.

thank you!

I haven't had genetic testing done yet, but when I eventually get re-assessed I'm going to try to pursue that if I get a diagnosis. My ADHD, ASD, and OCD are most likely genetic since a lot of people in my family have those things, and I would like to know what genes are affected + how that affects me.

I also probably should get tested for exposure to things like lead, since even into late childhood I used to consume inedible things and put objects in my mouth, and we had a lot of older toys and other things that probably exposed me to some bad chemicals. Other people in my family don't have issues with motor skills, dyscalculia, processing delays, etc. to the degree I do, or at all, so I think those things might not be genetic.

How did you go about getting a referral for genetic testing? Did you ask for it, or did your doctor suggest it to you?

A lot of the genetic tests show if your body is able to metabolise proteins and amino acids responsible for the function of neurotransmitters (serotonin, dopamine, etc). Many of the genetic markers will show if SSRI meds will even be effective in your system. Quite often they can pinpoint which SSRI or other meds will work best, or which ones might prove toxic. That's because our genes are also responsible for detoxifying the body. If genes malfunction or mutate, unusable chemicals (including healthy ones) can accumulate and lead to inflammation, autoimmune responses, cancer, and even organ failure, heart attacks and strokes.

Those chemicals that we might not process include everything from nutrients in food, to medication, to environmental exposure (smoke, heavy metals, etc.). Of course everyone is sensitive to illness from smoke and heavy metals but if your genes don't know how to detox or you can't process healthy input like certain vitamins / minerals, it increases your odds for systemic illness.

Here's just one of the main amino acids that some people can't process because of their genome:





It's called Tryptophan and we need it to regulate mood, pain, sleep, and appetite. SSRI increase our levels of Trytophan which increase our levels of Serotonin / Melotonin, etc. If we can't process Tryptophan or other groups of amino acids it leads to a deficiency and ends up hurting us more than it helps, similar to a poison.

I'm not an expert and I shouldn't be trying to explain any of this online, but that's a very brief summary of the ways genetic testing can help people to know which meds their body needs in order to metabolise nutrients and medicines properly.

In my case I seem to be unable to process any B vitamins, among other things. B Vitamins are responsible for neurological function, healing from illness, detoxification, and many other important tasks. My blood draws show normal B Vitamin levels (actually fairly low), but just because it's in my blood it doesn't mean I'm processing it or putting it to use. There's a likelihood my body doesn't benefit from any of the B Vitamins that I eat in food or the ones I take as supplements. They just float around in my blood, unused. They may even be hurting me because they aren't metabolised.

This all came about because of my medical problems. I have a very complex history and I don't respond to meds. Most meds make me extremely sick and they don't work. I don't show clinical improvement with Vitamins and supplements, with SSRI, ADHD meds, sleep meds, or even blood pressure / cholesterol meds pursuant to my strokes. My doctors are always perplexed why I have so many health issues and birth defects with no explanation and no apparent response to treatment. In the case of sleep meds, I've been taking prescription sedatives every night for about ten years but as you know I'm awake here nearly all night every night. I'm lucky if I can sleep four hours and I consider that a victory, even with meds. My BP is consistently about 160/100 even with three blood pressure medications. BP was supposed to go up when I started ADHD meds, but it went down. I'm a medical anomaly. I have several midline defects including three ureters, congenital liver disease, and a heart defect. I was born with early stage Spina Bifida. I'm clinically tongue-tied and I have a speech impediment as did my dad. My paternal grandmother had three boobs (lol but true) and my paternal people all seem to have been autistic. None of them responded to meds. They had similar health concerns to mine. The list of stuff from my dad's side of the family has always shown that we have genetic oddities but we've never stopped to name them or consider the implications. I could die from another stroke and I'm very high risk with my high BP. That's the main reason my doctor wants to figure out WTF is going on.

It just so happens that the markers my GP wants to investigate are commonly responsible for Autism and ADHD. I wasn't searching to figure out why I'm Autistic. I have no problem being Autistic and I know it's something I was born with. This is more about the other syndromes that tend to accompany ASD in genetic mutations. I'd also love to find out how to treat my ADHD because right now, I don't respond to any dose of medication. Maybe I need a different type, or maybe I need it in conjunction with other meds which will help me to metabolise and use proteins and acids properly. Maybe it's a different type of genetic problem that I haven't even read about yet? Who knows.

I'll definitely be curious to find out.

I asked my GP about my genetic profile and showed her a written history of my issues as well as my dad's side of the family. Her dad was my dad's doctor so we've known her family as our doctors since before I was born. My GP is also the doctor for my daughter, my brother, and my mum. That means she knows us all well and she's seen first-hand how complicated yet similar our issues are. She has always talked about the "patterns". She calls us atypical and says that whatever meds work / don't work for me will likely have the same effect on my daughter. (Unfortunately, that means they don't work for either of us). As soon as I suggested testing she was on board and excited to find out more. She took all of my research and she's doing her own research while waiting for my referral appointment to take place.

I'm lucky that everything is free here. All I've had to pay for was one of the heavy metal toxin tests, for Cadmium. It cost me $42.00, which I'd say is a really fair price for all of this work up.

Have personally been prescribed by the USA Veterans Administration in the early 1980s Tyrptophan .
1000 mg a night . It worked quite well . And no need for SSRI ‘s. Was great , then some tainted tyrptophan
Came into the country and everybody ,everywhere stopped using it .
And so SSRIs grew and grew ..after a short while of extra suffering they started running me through the gambit of all different SSRIs . For over ten years .plus….
It was ridiculous .. Tyrptophan is the chemical precursor for Serotonin.
Would be curious to see what’s on my genome .. but the powers that be are inhibiting the availability of CRSPR and gene editing for common people . Or maybe not available to most . This stuff is way over 8 yrs old tech.
People should not be suffering . But if you cure stuff. You put the multi gazillion dollar medico,corporate body,
That is the heaviest lobbying industry in the USA at least , next to the military industrial corporate.

But politicians do not want to hear this stuff ….. (it just keeps giving me the feeling that something is off.)

That's fascinating Jakki. I didn't realise Tryptophan used to be prescribed but that makes sense. Why wouldn't it be, if a person was deficient or showed clinical signs of deficiency? It's also good to know that it worked for you even though you can't get it anymore. My doctor thinks I might not methylate (metabolise) it at all. That could explain my crushing, chronic insomnia and the fact my sleep study said I'm incapable of getting restorative sleep -- EVER. Apparently my brain is unable to reach Delta Wave (restoration), and somehow he knew it was a permanent condition. That's just another bizarre quirk about me that no one can explain.

I know you have insomnia too. I'm not American so I didn't know that the government is playing those games with access to testing. I bet they claim they're preventing the use of eugenics and preventing genetic engineering. Very interesting.

I'm in a somewhat-similar boat with my exposure to intentional, longterm chemical poisoning. That's a long story and one that's too personal to share but I have half-a-mind to go full-on Erin Brockovich with the government. If it turns out I have a genetic problem meaning I can't detoxify from chemicals, I just might. I was exposed to poisonous chemicals like Arsenic for my entire gestation, and they've killed most of my family already.

Tyrptophan is available at most health food type stores here now.. many years later .. And is available on Amazon .
There is a product called 5 -http .. contains some Tyrptophan but it is not a good thing , I feel after reading it’s ingredients. With the ingredients offered you can build up a tolerance. The melatonin .. is a great thing . But in order to subvert some of my PTSD symptoms … I was using about 300 mg. A night . Normal dosage is 3 mg . Plus some other meds to get me to get any sleep. After I used the Tyrptophan regularity again , for alittle while . I was able to
Eventually go very far down on the melatonin again . Used some benedryl nightly and 1 mg lorazepam . And a Advil and a Tylenol 500 mg . Was my bedtime cocktail. But it works . Also did normal vitamins minerals and supplements
During the day . So now. If I am careful . I can sometimes get 5 hrs.sleep , and sometimes even go back to sleep if my mind isn’t to occupied..for another 2 hrs .. But often I just lay there 2 more hours . Sometimes dosing in and out .Eventually no SSRIs for over 2 yrs now. Please be careful about taking doctors advise on methylation of your stuff in your diet .
Often good quality yoghurt or a multidophilus supplement type of digestive aide . And some enzyme aides
(Papaya pills ) will
Do wonders for breaking down your foods into a absorbable stuff in your colon. Which is the starting point for any situation concerning absorption. A Naturopath doctor is usually superior in diagnostic skills to a M.D. Imho.
Better at processing out toxins in the system.
Do not assume your MD has all the learning and research of a nutritionist and a naturopathic doctor and other types of specialists . These are all component people of trying to fight chronic illness .And many more .But you do what you can . You and your family ….Hang in there ….Isabella

Had a very good doc 20 yrs ago .. recommended methylated B 12. , then 6 months later received an email from her office not to use methylated B12 ..Saying it was counter productive.To my health conditions.

Just thoughts to offer.. that have been beneficial to me.

I believe genetic issues have been identified in only around 30% of autism cases.

The other 70% remains unexplained

It may be more worthwhile taking a FRAT test.

A number of autistic people have anti bodies preventing the absorption of Folinic acid or vitamin B9, such a thing is claimed to have caused the autism in the first place in some people and may help with symptoms in others.

There was a well known person in the autism community Roger Kulp an adult with severe autism, he was prescribed calcium folinate and his symptoms improved significantly.

There has been many medical research papers published on this but you would need to do your own research to see if it’s a path you may want to follow it’s certainly not for everyone.

https://www.nofone.org/dr-frye-q-and-a-folinic

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794882/

https://www.kmuj.kmu.edu.pk/article/view/21782

Jakki,
Thanks for all that. I didn't realise Tryptophan was available. I don't even know if I need it or not. I mentioned it just as an example for Hero. I've never tried straight Melotonin but my daughter did, and it made her sick as a dog even at very low doses. She couldn't tolerate it for whatever reason, so I've avoided it. My issue is that I'm so sensitive to meds I always need micro-small doses. When I used Quetiapine 25mg I didn't wake up for 24 hours. I have to nibble the corner off it which would be about 6mg, and even then it knocks me out too hard for use. My aunt passes out if her tea is too strong. I pass out from nitrous oxide and Tylenol. When I took SSRI I could only do the lowest dose (e.g., Zoloft @ 25 mg) and even that was too much. My ADHD starter dose was supposed to be 30mg but I had to get the chemist to make mine 5mg so I wouldn't have a heart attack. For sleep I do 5mg Ambien. It doesn't work and I still have insomnia (I sleep about 4 hours max), but without it I don't sleep at all. I also take MiniPress for PTSD nightmares but at the lowest dose. I haven't taken SSRI for a long time now. The last one I took was Trintellix at only 5mg when it should be 20+. Then there's all my BP meds that don't work at all. Calcium Channel blockers nearly killed me after my first stroke. They were horrible. I can't do Risperidone or Propranolol either. I've had UTI for about a year but the antibiotics don't work.

Medicine and I just don't get along.

I believe you about the Naturopaths. I have a great Naturopath and I'd love to see him again. I'll wait for the results of all these blood / genetic tests because otherwise I'd have to pay him to conduct the tests because insurance doesn't cover their lab work.

I have an artificial bladder and I had a bowel ressection because of medical problems. I have to be really careful about anything I eat or use as medicine. I appreciate all your info about natural products and detox. I don't know for sure if they'll give me methylated B12 but I know what it is, and all about methylfolate. It's interesting because when I was pregnant and took regular synthetic folic acid I haemorrhaged and nearly lost my daughter. She may have had a twin that I lost. I bled through the whole pregnancy. I also miscarried a baby at almost five months when I was on synthetic folic acid. I have vasculitis and all sorts of clotting disorders.

It gets so confusing I don't know where to start.

So much to consider. But again, thanks. I can see that you know exactly what I'm talking about.

Hi Carlos,
Thanks for the info. I'm not concerned about how or why I got my Autism. I know it's genetic in one way or another because my late father had strong autistic traits (and his father, and so on). My cousins on that side of the family are NT but they were adopted ... because my aunt had a clotting disorder and kept miscarrying.

My interest is primarily to figure out why I can't take medicines, and why I have so many health problems which are clustered in patterns with my dad's side of the family. We need to figure out how to treat my BP and my liver problem for one thing. I need to be proactive about my health as a single mother. My daughter has Lupus Nephritis (autoimmune), Epilepsy, ASD / ADHD, and many other health conditions that don't respond to meds. There's something very odd about our genetics.

It's just a random coincidence that ASD and ADHD are listed along with most of the health conditions I research in genetic studies. I'm Level 2 ASD and Combined-Type ADHD but that's not a worry for me. I just want to know how to treat my health in the most effective ways possible, and by extension help my daughter too.

I hope you and your daughter will find answers …. Health situations can be such a fight . Even just to get
Proper information ..