My name is Kayla and I live in Portland, Oregon. I’ve been married for twelve years to a really magical guy and have two sweet, unreal kind of boys: one nonspeaking, and on the spectrum requiring substantial support (known on the blog as G) and one who is “neurotypical” (known as L).
G was born in 2015 and is six years old now. He was diagnosed with autism in August 2017 at almost three years old. (Sounds just like what you read about, doesn’t it?) We always knew he had autism early on and “made it official” in order to properly obtain help through doctors and for insurance purposes. It was helpful to have him seen by the different health professionals during the diagnosis appointment. They confirmed that he did not have any hearing problems for one, which was a concern back then. The biggest things they noticed were his repetitive actions, lack of speech, and inability to participate in pretend play. The doctor was not a very warm person. She didn’t have much advice. She said “you probably know this already, but he does have autism and he needs substantial support.” She gave me a paper booklet which suggested to join local community groups for autism parents. It suggested websites listing therapy and learning resources. There was not much else – and certainly nothing about helping to heal him or make his life more understandable. I kept the booklet a long time and eventually threw it away. I ended up having my own booklets and binders pile up – believe me. (Right before 2021, I cleaned them all up and moved on with what felt like a place in time that should be called Phase 2.)
The diagnosis appointment and conversations in 2017 left me with a sad feeling. I wanted someone to tell me how to help him, from the inside. I was on my own to find that out. For the next year, I spent a lot of time on Facebook groups. From reading about chelation, biomedical treatments, detoxing foot baths, diets, therapy, fecal transplants, and stem cells – it was all overwhelming, and much of it very expensive. On top of it all, there were no guarantees or clear paths to get anywhere. I started writing posts here on AskMoms to clear my head and try to figure things out.
Here is G’s extreme timeline and where we are currently is way, way down at the bottom. There’s a condensed timeline with more clear points at the bottoms as well. I share this here not only to help other parents see similarities in their children, but also so I can share with any doctor or therapist currently helping me with G.
2017 New Year’s Thoughts on G This is a list of what children with autism have issues with. My thoughts on G are below each one.
Resists being held or cuddled? This was an issue since about six months. As of today, during the past six months, he now does like to be held, carried, and snuggles sometimes especially if he is very comfortable, or is drinking from his water bottle.
Distressed by diaper changes? This was an issue since about six months but has subsided for the most part. He would rather change his diapers standing up.
Upset by baths or grooming? He now loves baths. When you comb his hair, he gets stressed because he wants to hold the comb and chew on it. Brushing teeth has never been possible but he does let us rub his teeth with a bath cloth to get the toothpaste on. Sometimes bites our fingers if we try to get the molars because he wants to bite down on the soft cloth. As of today’s date he is letting us put the toothbrush in his mouth and brush a few of his teeth for short periods of time.
Difficulty with sleep patterns He has always woke up multiple times per night. At about 18 months he started sleeping through the night. Sometimes wakes up once, at 12, or 4, and after a diaper change and bottle, will settle back down and sleep until 7 or 8. What has changed in sleeping patterns is how sometimes before his nap, before bedtime, or before going back to sleep during that one wakeup during the night – he will babble – sometimes for an hour – before settling back to sleep.
Cries excessively (more than a half hour or hour at a time)? No.
Avoids eye contact, has difficulty focusing on objects or following them with eyes? This has improved greatly. He will look directly at us when he is upset or wants something. He focuses on objects very well.
Upset by sudden movement or moving head out of upright? Not really.
Distressed by rocking motions? He likes to be picked up and rock/fly around on our arms. But sometimes is not in the mood.
Upset by movements such as swinging, bouncing, or being tossed up in the air? Depends on his mood for bouncing or tossing. But never, ever likes going in a swing. He liked it until he was about a year old, then never again.
Doesn’t appear to respond to name or familiar voice? He does look for us if he hears our voice and most of the time when we say his name. But it’s never certain.
Can’t seem to calm baby down? If G is upset and nothing works, he likes to drink from his water bottle.
Difficulty with sucking, chewing, or swallowing? No.
Doesn’t tolerate new foods well? He usually will try something but spits it out if he doesn’t like it. Which seems to be pretty normal for kids in general.. I try not to focus too much on this. He already eats a better variety of foods than his older brother!
Cries inconsolably until a wet or dirty diaper is changed? Doesn’t care about the feeling of wet/dirty diapers.
Severe separation anxiety? No.
Tantrums many times a day? No. He only really gets upset if he loses a toy underneath furniture, or if a toy stops working the way he is used to.
Upset by sunlight or bright lights? Not really.
Upset in public places, especially if crowded or noisy? Not really.
Doesn’t enjoy regular interactive movement games, i.e., peek-a-boo, pat-a-cake, etc.? He does not focus on games like this. No clapping, patting, etc.
Upset by dirty hands or face? Notices food on face and rubs it off. But doesn’t seem to get upset by it. Seems normal in this area.
Sensitive to sounds others don’t seem to be bothered by? Doesn’t get bothered by sounds. Sometimes if the vacuum is on for longer than 10 minutes he will start to cry. But nothing else seems to bother him. He also seems to seek out sounds, and play them over and over with a few of this toys as if he is listening really carefully and has wide open eyes.
Difficult to engage; is an observer, doesn’t interact with peers or adults? G is always on the move from toy to toy, from room to room. As of today’s date he loves to throw balloons in the air and likes when we play with them with him. This is a big improvement over just a few months ago.
Appears overwhelmed, cries, or falls asleep when over stimulated Overwhelmed, for sure.
Refuses/distressed by certain positions, i.e., being on tummy, on back, sitting, etc.? Sometimes does not want to lay on his back to change diaper. But at other times is fine with it, especially if he is distracted with a toy. But does prefer to change diapers standing up.
Upset or uncomfortable with moving in and out of positions? He is always on the move, if I am putting his pants on he tries to crawl on me, over me, etc. But never really upset by it unless he is tired.
Today I am less sad about G. The way he just asked to be out of the chair. Then on the way to the living room he chose blocks on Proloquo and looked at me and smiled. He knows exactly what he wants to do, more and more. It’s less of this feeling like I think he is just in his own place and wondering about does he really know what is going on. He more often does than not.
• When he wakes up from sleeping at night and we go into his room in the morning, he usually begins pointing toward to the door. Which can mean for us to leave, or that he wants to leave. Sometimes he wants alone time in his room. Other times he is ready to leave the crib. Sometimes he greets us with a smile first but he does not reach out to give us a hug. I ask him for a hug or kiss and he will but then he turns his face away again. His kisses are mostly always to the side of his cheek. He sometimes does kiss me right on the lips if he is in the right mood/state. His hugs are getting more rounded but we are usually the one giving the hug and he receives it. He doesn’t yet understand the concept of wrapping both of his arms around someone.
• When he wakes up from a nap, he is usually more receptive to being loved on and smiles more. And he laughs and giggles and rolls around.
• He is not interested in material things, toys or any objects really. When you take him into a store, it’s not an issue to go look at toys or anything – he doesn’t want to take anything, doesn’t have any big wants or even “demands” like some kids would. He’s not going to scream over not being able to buy something. He just doesn’t think in that way. He would rather go into an elevator or watch it open and close. He would rather look for numbers on signs. He just wants to walk around and see things. There have been times he wanted to take play doh or a car, but you can just as easily put it back and leave since he already has those things.
• Even when walking around outside, if you give him a leaf or flower, he wants to put it back on the plant. He doesn’t want to take or “own” anything.
• There’s just not a bone in his body that truly wants to keep or own something. If he does want to get something, I know it’s because he is just used to that thing, and wants to hold it in his hands mostly.
• Eye contact. It’s better now than it’s ever been. He still can’t do it for longer than a few seconds, but there are times when it goes almost for ten or so if he is really engaged and in the right mood. He definitely knows what “look at me” means and he will do it, even though it can be really short.
1. G learned to swing. No more grabbing and screaming to get off of it! No more crying. Only laughs and swinging super high! We have to push him but are working on showing him how to move his legs, which so far makes him laugh mostly instead of him doing it. : )
2. He learned to like the shower being on while in the bathtub and sits in it forever! He used to be so upset and want to leave. Still doesn’t let it go on his face but most fear is gone overall. He wants to see the shower water falling near him and on his body, just not face or head. He will move himself away from it and stick his body out of the bathtub a little if I move the shower toward his head. Huge step from the past which was crying and leaving the bathtub. So, less rigid with water! We are able to point the shower directly down on his legs and body instead of next to the wall.
3. G ate Annie’s Cheddar Bunnies instead of Goldfish for the first time. We have switched to bunnies. Next going to try gluten-free Annie’s Bunny Tails so he can be completely gluten free for a while and see what happens. Super surprised that he accepted a different shaped cracker finally. Becoming less rigid with food! UPDATE: Annie’s Bunny Tails were hard too chew and not good. Still eating the regular Cheddar Bunnies.
4. G started to roll up his sleeves every time he is going to play with toys in a tub of water. We have been showing him to do this more often (besides him washing his hands) so it is great to see he is now doing it without us asking. We stand back and watch in awe eachtime.
5. G has peed in the potty 4 times now in the past two weeks, and #2 once. All were while standing and watching him like a hawk, but we caught it every time and praised him. Ramping up intensity on this when we are outside and when we know he needs to go. He is learning fast.
6. He runs to the bathroom when we tell him it is time to pee pee. He has not peed in the toilet yet, only in the plastic potty while standing. But he knows that is a place to go to the potty and runs to flush it. He also has ran with us to empty #2 into the potty from his diaper and flushes it.
I started to actually accept the fact that G and L doing a lot of things separately is just the way of our lives, and I had to face it may be that way forever.
G has been obsessively drinking water using his hand from the kiddie pool or bath tub. I had to stop putting magnesium flakes in the bath because of how much he is drinking the water. I am afraid to take him to the beach because I don’t want him to drink it. UPDATE: Took him and he didn’t drink a drop. Wish I had took him sooner.
Since November, G got a lot more obsessed with numbers and counting. This has resulted in big problems and meltdowns. We have tried to redirect him to letters or shapes, but he prefers numbers. One good thing that has came out of it is that he knows how to do simple addition problems this month!
G seems to be internally counting his sips of water since December. He used to drink a lot more. Now he limits himself to sometimes only one gulp of water. Then he has trouble with making multiple burps for about twenty seconds – makes a bunch of noises in his throat.
G no longer likes to listen to music at all and turns it off. We cannot listen to it even in the car. It has to be silent or he screams and wants to climb to the front to turn it off. This will be a long road to get him to like music and songs again.
Back to good news, every time he has pooped in his diaper he walks to the bathroom to show us. He knows we empty his diaper into the toilet before we throw it away. This is now a permanent thing and when he poops and doesn’t really realize it, we take him to the bathroom instead of just changing it where ever in the house we happen to be. At least now this means that we are one step closer to understanding what the bathroom/toilet is all about. (We have not had any success with peeing in the potty since the summer.)
Sometimes G goes to his room and closes the door if he is very into something on the iPad or my phone. I think he is trying to make it more quiet. It has been so interesting to see him do this.
G had a few DNA tests before. These are some of the negative results of the most recent one done in 2018. I try to look into these sometimes to put the puzzle together.
1. You have a variant in the BDNF gene that is linked to lower activity of the BDNF protein. This protein is found in nerve cells in the brain and spinal cord, and is linked to memory and learning, as well as to mood, appetite, and weight control. Exercise has been shown to upregulate BDNF production, which may be particularly important for you.
2. You have a variant in the NAT2 gene that is linked to slower detoxification of numerous environmental toxins, including those from cigarettes and meats. The NAT2 gene encodes an enzyme called N-acetyltransferase 2, that is part of the second phase of liver detoxification. You have two copies of a variant associated with lower activity of this enzyme; when combined with toxin exposure, it has been linked to carcinogenic changes, including bladder, breast, and colorectal tissue.
3. You have a variant of the ABCB1 gene that is associated with lower activity of an enzyme which helps to eliminate toxins from within cells. This enzyme is found in higher amounts in the kidneys, central nervous system, and especially the lower portion of the gastrointestinal tract. Reduced activity of this enzyme has been associated with a greater risk for inflammatory bowel disease and colorectal cancer, a lower consumption of meat may help to mitigate this risk.
4. You have 2 copies of a genetic variant associated with lower detoxification (methylation) of arsenic. You may need to take special precautions to reduce your exposure to arsenic. The arsenite methyltransferase enzyme is encoded by the AS3MT gene. It is involved in detoxification pathways that rid the body of carcinogenic arsenic compounds. These arsenic compounds are also implicated in metabolic conditions. Accordingly, loss of AS3MT activity increases carcinogenic risk and metabolic risk.
5. You have a variant in the XRCC1 gene associated with lower activity of its encoded DNA repair enzyme. X-ray repair cross-complementing protein 1 is a protein encoded by the XRCC1 gene. It plays an important role in repairing DNA after damage from ionizing radiation. You carry two copies of a variant associated with an increased risk of neoplastic changes affecting the mouth, thyroid colon, and respiratory system.
6. You have a variant of the GPX1 gene associated with lower activity of the enzyme coded by this gene. This enzyme catalyzes the attachment of glutathione to numerous environmental toxins as well as toxins produced by the body, helping to eliminate them. Lower activity of this enzyme means that environmental toxins as well as free radicals generated by normal cellular activity will persist longer. Supporting glutathione production with amino acid building blocks, such as N-acetylcysteine, may be warranted.
7. You have a variant in a gene linked to higher levels of C-reactive protein (CRP) levels, a marker for inflammation and cardiovascular disease. Fortunately, diet may mitigate this risk. CRP, C-reactive protein, is a protein produced by the liver. CRP will increase when there is inflammation in the body as it is part of a group of proteins called ‘acute phase reactants. Mutations or SNPS in the gene coding for this protein have been associated with a greater risk of cardiovascular disease in large human studies.
8. You have a variant in the TLR2 gene may adversely affect immune function. Toll-like receptor 2 is a protein that is encoded by the TLR2 gene. The toll-like receptor family of proteins play a fundamental role in identifying pathogens and activating the innate immune system. You carry two copies of a variant associated with an overactive response; for example, it has been linked to a greater risk of respiratory disease with greater air pollution. Recommendations to mitigate the effect of this variant will be integrated into your final report.
9. You have the homozygous (G/G) genotype of the rs1126667 SNP – this codes for the enzyme 12-lipoxygenase, which is involved in the metabolism of arachidonic acid. Differences in the activity of this enzyme impact inflammatory mediators – your genotype is associated with higher enzyme activity, and thus the potential for production of more inflammatory mediators. This is likely the reason it has been linked to a greater risk for albuminuria among those with diabetes.
10. You have a variant of the PTGS2 gene, associated with increased inflammatory activity. Prostaglandin endoperoxide synthase 2 (PTGS2, also known as cyclooxygenase-2, COX-2) is a gene found active in many tissues of the body. It catalyzes the rate-limiting steps in prostanoid biosynthesis, compounds involved in a variety of immune and inflammatory processes. You have two copies of a variant associated with increased oxidative stress, inflammation, and autoimmune activity.
11. You have a mutation in the PRSS1 gene that is associated with inflammatory changes in the pancreas. PRSS1 is a gene that encodes a pancreatic enzyme involved in the digestion of proteins, called trypsin 1. Some polymorphisms of the PRSS1 gene cause trypsin 1 to activate prematurely while still in the pancreas (before secretion into the digestive tract), causing damage and inflammation to the pancreas. Other polymorphisms of the PRSS1 gene cause impaired activity of trypsin 1, leading to protein maldigestion. Your genotype may predispose you to alcohol induced pancreatitis – avoiding alcohol may mitigate this risk. Additionally, pancreatic enzyme replacement therapy may relieve many of the resulting symptoms.
12. You have a variant in the CLDN2 gene, encoding for a protein which lines the interior of the pancreas. The CLDN2 gene encodes a protein called claudin-2. Inside the pancreas, claudin-2 lines the internal structures where digestive enzymes are stored, where it protects the pancreas from autodigestion via leakage of these enzymes into other areas of the pancreas. You have two copies of a variant that may cause malformations of the claudin-2 protein, resulting in inflammation and damage to the pancreas as well as protein maldigestion.
13. You have a common variant of the PRSS2 gene, coding for a protein digesting enzyme. PRSS2 is a gene that encodes a pancreatic enzyme involved in the digestion of proteins, called trypsin 2. Some polymorphisms of the PRSS2 gene cause trypsin 2 to activate prematurely while still in the pancreas (before secretion into the digestive tract), causing damage and inflammation to the pancreas. Other polymorphisms of the PRSS2 gene cause impaired activity of trypsin 2, leading to protein maldigestion. You have two copies of a variant associated with normal functioning of the trypsin 2 enzyme. While it is associated with typical risk for pancreatic inflammation, another variant at this SNP is associated with an even lower risk.
14. You have a variant in the MORC4 gene, which encodes for a protein that protects the pancreas from damage. The MORC4 gene encodes a protein called Microrchidia Family CW-type Zinc Finger Protein 4. The MORC4 protein is involved in the synthesis of claudin-2, which protects the intestines from autodigestion via digestive enzyme leakage across the intestinal barrier. You have two copies of a variant that results in inflammation and damage to the small and large intestine.
15. You carry two copies of a variant that has been associated with earlier onset and greater risk of developing blockages in the coronary arteries.
16. You have a variant of a gene found on chromosome 9 which has been linked to an increased likelihood of cardiovascular disease.
17. You have a variant in the VDR gene, known to encode the vitamin D receptor. The vitamin D receptor (encoded by the VDR gene) is responsible for the physiological effects of vitamin D. After being activated in both the kidney and liver, the active form of vitamin D (1,2h dihydroxy vitamin D) binds to the vitamin D receptor, which then triggers the multiple effects of this hormone, including those related to calcium and phosphate absorption, immune function, and cardiovascular health. You have two copies of a variant associated with lower activity of this receptor, which increases the risk for bone loss and neurological degeneration. Increasing your intake of vitamin D may help to mitigate this risk.
18. You have a variant in the TLR4 gene that’s associated with an increase in the production of inflammatory compounds. Toll-like receptor 4 is a protein that is encoded by the TLR4 gene. The toll-like receptor family of proteins play a fundamental role in identifying patterns found on pathogens, and appropriately activating the innate immune system. This variant appears to increase inflammation unnecessarily, increasing the risk for respiratory and other inflammatory conditions. Reducing exposure to air pollution and decreasing inflammation may help to mitigate this effect. For more information on this gene, click here.
19. CLOCK rs1801260 AA You have a variant in the CLOCK gene, a regulator of circadian rhythm. The CLOCK (Circadian Locomotor Output Cycles Kaput) gene contains instructions for the production of an enzyme that affects circadian rhythm. Circadian rhythm, also known as the sleep/wake cycle, involves physical, mental and behavioral changes that follow a roughly 24-hour cycle, primarily in response to light and darkness. You can think of your circadian rhythm as a 24-hour internal clock running in the background in your brain and cycling between sleepiness and alertness at regular intervals. You carry one copy of a variant that appears to disrupt circadian rhythm and is associated with difficulty losing weight, whether you are a morning person or night owl, sleep disturbances, and mental health conditions.
20. You have a variant in the PDE11A gene, which may impair the activity of an enzyme called cyclic phosphodiesterase 11A. The cyclic phosphodiesterase family of enzymes degrade the intracellular cyclic nucleotides cAMP and cGMP. These two cyclic nucleotides increase within brain cells in response to stimulation by neurotransmitters; thus, the degradation of cAMP and cGMP by the PDE11A enzyme is a way to decrease the effect of neurotransmitters on brain cells. You carry two copies of the variant that increases the risk of neuropsychiatric disorders involving depression.