April 21, 2016
Your son sits on the floor, dropping a ball over and over again. You call his name and he doesn’t respond the first ten times you say it. When he finally notices, he stares right through you. You get down on the floor and try to look in his eyes and play with him. He gets up and runs off to his next solitary game of repetitive toy throwing. He has no words to tell you what he wants, he does not point or share or show. He is alone in his world, and though you see him in there, you are lost as to how to reach him.
This was life with my first child when he was 18 months old.
As the rates of autism in the United States have skyrocketed in recent years, we have all become increasingly aware of this disorder and the issues it creates for children and their families. The CDC’s current estimate of autism prevalence is 1 out of 68 children who were born in 2004. This measurement does not yet include my own son, who was born in 2010. Thanks to significant medical and therapeutic intervention, by the time his year is counted, I have every intention that he will not be a part of that statistic.
So much can change in just four years. My son’s autism was first brought to light almost exactly that long ago by an amazing developmental therapist who had just started to work with him. When Jack was still not talking at 18 months old, I contacted the Illinois Early Intervention program for an evaluation. He started speech, occupational, and developmental therapies shortly after. The day that we first realized he had autism was one of the most emotional days of my life, but I very quickly learned that many of his symptoms could be alleviated by very simple lifestyle changes, such as changing his diet. At our therapist’s suggestion I immediately stopped giving him dairy products, and within two short days he was making better eye contact with us. From that point on we knew he could be healed, and we never looked back.
I learned so much that year about the underlying medical conditions that contribute to and cause symptoms of autism to appear. Because an autism diagnosis is based purely on professional observation of particular behaviors and developmental delays, it does not provide any insight into the physical symptoms that many of these children share. Many parents are told that their child’s issues, such as sleeplessness, headaches, and stomach pain, are “just behavioral.” If a developmentally typical child had these complaints, a physical cause would be sought, but when it’s a child with autism, oftentimes the disorder is blamed and the family is sent on their way without any help for their clearly very sick child.
Recent scientific research shows that autism is a condition that affects the whole body. Children and adults with autism often have allergies, autoimmune conditions, gastrointestinal diseases, immune dysregulation, metabolic abnormalities, mitochondrial disease, neurological inflammation, oxidative stress, seizure disorders, and extreme sensitivities to environmental conditions. Some of these afflictions can be life threatening and even deadly when not properly treated.
As a baby and toddler, Jack was constantly sick with ear and respiratory infections, chronic eczema, and gastrointestinal problems resulting in a cycle of constipation and diarrhea. He was unable to sleep, was extremely sensitive to noise and movement, and needed very strict routines. He was constantly moving and seeking sensory input to regulate his nervous system. But as we treated him for these medical issues, he began to flourish. He started talking, he became more engaged with us, and his anxiety with new situations and transitions eased significantly. This was a process; we tried our fair share of interventions that gave us no results at all. It was over a year before we saw some of these changes, but I had so much faith that we could reach him. We were lucky to eventually find a doctor who believed in autism recovery and is still one of our trusted providers today.
Along the way I’ve met other local families who have seen their children recover by treating their comorbid medical conditions. Laura Cellini’s son, Jonathan, regressed into autism after hitting all of his developmental milestones around 17 months. Recognizing that something dramatic had happened, Jonathan’s parents took him to the University of Chicago for a diagnostic evaluation that classified him as having severe-to-moderate autism and indicated that his receptive and expressive language scores had regressed to that of a six to nine-month-old (he was 26 months old at this time). He had lost nearly two years of development. He had been very sick for much of his life to this point, with frequent ear and upper respiratory infections and reflux, among other illnesses. His autism was so severe that his parents were told he would eventually require residential care. Laura states that a gluten-free, dairy-free, dye-free, organic diet helped tremendously. However, it was when he was accurately diagnosed with a primary immunodeficiency and given appropriate medical care that his symptoms of autism also started to disappear. Today, Jonathan is a bright and engaged 17-year-old who will soon go to college; he wants become a writer.
Mandy and Sean Dickerson’s son Cameron was diagnosed with autism at three years old after having been enrolled in speech, occupational, physical, and feeding therapies for over a year. Cameron had a myriad of symptoms, including lack of engagement, strict routines, stimming, poor eye contact, sensory disorder related to taste, touch, sound, and movement, oppositional defiance disorder, abusive tantrums, inability to transition, inability to communicate and socialize, interrupted sleep patterns, and high anxiety. His parents started to address his physical conditions, which included chronic eczema, immune dysfunction, severe seasonal allergies, and gastrointestinal problems. Very quickly, his autism symptoms began to fade away. Cameron is now a happy and healthy six-year-old thriving in a mainstream kindergarten classroom and does not require assistance or special education. I have talked to countless other moms from all over the country who can tell similar stories about their children recovering from autism.
My son Jack is doing amazingly well these days. Now that he’s healthy, he can benefit from traditional speech and occupational therapies much more than he did as a toddler. He is in kindergarten, and though he has some catching up to do, he continues to exceed even the highest expectations we have for him. He loves to play with his brothers and friends at school; he can read and is starting to write. I try not to think about where he would be now if we hadn’t found the right treatments for him.
I often wonder why it is so difficult for children with autism to be diagnosed and treated for their underlying medical conditions. Part of the challenge is that each and every child is unique; the causes for one child may not be applicable to the next. The other part is a simple lack of training for pediatricians on how to recognize and treat some of these issues; the pediatrician who saw Jack as a toddler admitted that she knew almost nothing about autism and could not answer most of my questions about the medical research I had found on these comorbid conditions. If this is the response you are receiving, please know that there are specialists who can help you. The fact that these children can recover from autism needs to be more widely known.
I love my son and I always will, no matter what happens in the future. He is a sweet, funny, brilliant, loving little boy. But I knew something was wrong that was preventing him from leading a full and happy life, and I had no choice but to use every resource available to help him. I will never stop trying to find ways to help him live his life to the fullest extent.
My hope is that, in this month of autism awareness, we become more conscious of what we can do to help our children. It will surely require time, effort, and patience, but it is so completely worth it to watch your child grow and develop and gain his life back. Autism recovery is real, and I am so very blessed to witness it in my home every day.
For more information on medical conditions associated with autism, visit Autism is Medical, Talk About Curing Autism, and Thinking Moms’ Revolution’s Red Flags Series.
~ Hoppy
Hoppy is the mother of two handsome little boys who light up her life (almost) every day! She and her husband are proud owners of a brewery and farm-to-table restaurant who believe that nature knows best when it comes to our bodies and our foods.
Latest research indicate that some of the symptoms associated with various neurological conditions are caused by an increase in the level of chloride (Cl-) inside the neurons. In physiological conditions, adult neurons have low intracellular Cl- levels underlying the γ-aminobutyric acid (GABA)ergic inhibitory drive. In contrast, neurons have high Cl- levels and excitatory GABA actions in a wide range of pathological conditions including spinal cord lesions, chronic pain, brain trauma, cerebrovascular infarcts, autism, Rett and Down syndrome, various types of epilepsies, schizophrenia, and other genetic or environmental insults. The reason why some epileptic patients don’t respond well to GABA-ergic medication is that GABA acts as an excitatory neurotransmitter when chloride is high.
There are two main chloride transporters responsible for maintaining the level of chloride inside the cells: NKCC1 and KCC2.
There are two main chloride transporters responsible for maintaining the level of chloride inside the cells.
1. NKCC:
The Na-K-Cl cotransporter (NKCC) is a protein that aids in the active transport of sodium, potassium, and chloride into cells. In humans there are two isoforms of this membrane transport protein, NKCC1 and NKCC2.
NKCC1 is widely distributed throughout the body, especially in organs that secrete fluids, called exocrine glands. In cells of these organs, NKCC1 is commonly found in the basolateral membrane, the part of the cell membrane closest to the blood vessels.
NKCC1 is also expressed in many regions of the brain during early development, but not in adulthood. This change in NKCC1 presence seems to be responsible for altering responses to the neurotransmitters GABA and glycine from excitatory to inhibitory, which was suggested to be important for early neuronal development. As long as NKCC1 transporters are predominantly active, internal chloride concentrations in neurons is raised in comparison with mature chloride concentrations, which is important for GABA and glycine responses.
Later in development, expression of NKCC1 is reduced, while expression of a KCC2 K-Cl cotransporter is increased, thus bringing internal chloride concentration in neurons down to adult values.
NKCC2 is found specifically in the kidney, where it serves to extract sodium, potassium, and chloride from the urine so that they can be reabsorbed into the blood.
2. Potassium-chloride transporter member 5 (aka: KCC2 and SLC12A5) is a neuron-specific chloride potassium symporter responsible for establishing the chloride ion gradient in neurons through the maintenance of low intracellular chloride concentrations. It is the principal Cl− outward transporter and is critical for the maintenance of hyperpolarizing GABAA reversal potentials. It is a critical mediator of synaptic inhibition, cellular protection against excitotoxicity and may also act as a modulator of neuroplasticity.
Animals with reduced expression of this transporter exhibit severe motor deficits, epileptiform activity, and spasticity.
KCC2 levels are low during mammalian embryonic development, when neural networks are still being established and neurons are highly plastic (changeable). During this stage, intracellular chloride ion concentrations are high due to low KCC2 expression and high levels of NKCC1, which moves chloride ions into cells. Thus, during embryonic development, the chloride gradient is such that stimulation of GABAA receptors and glycine receptors at inhibitory synapses causes chloride ions to flow out of cells, making the internal neuronal environment less negative (i.e. more depolarized) than it would be at rest. At this stage, GABAA receptors and glycine receptors act as excitatory rather than inhibitory effectors on postsynaptic neurons, resulting in depolarization and hyperexcitability of neural networks.
During postnatal development, KCC2 levels are strongly upregulated while NKCC1 levels are down regulated. This change in expression correlates to a developmental shift of the chloride ion concentration within neurons from high to low intracellular concentration. Effectively, as the chloride ion concentration is reduced, the chloride gradient across the cellular membrane is reversed such that GABAA receptor and glycine receptor stimulation causes chloride ion influx, making the internal neuronal environment more negative (i.e. more hyperpolarized) than it would be at rest. This is the developmental shift of inhibitory synapses from the excitatory postsynaptic responses of the early neural development phase to the inhibitory postsynaptic responses observed throughout maturity.
Several neurological disorders including multiple epilepsy subtypes, neuropathic pain, and schizophrenia, as well as various insults such as trauma and ischemia, are associated with significant decreases in the Cl− extrusion capacity of KCC2 that result in increases of [Cl−]i and the subsequent hyperexcitability of neuronal networks.
Since many reports show that restoration of the physiological level of Cl− results in normal neuronal functioning, this suggests that targeting of the KCC2 and/or NKCC1 could be an efficient therapeutic strategy.
Development of Cl− homeostasis depends on developmental changes in NKCC1 and KCC2 expression. Generally, developmental shifts (decreases) in [Cl−]i parallel the maturation of the nervous system, e.g., early in the spinal cord, hypothalamus and thalamus, followed by the limbic system, and last in the neocortex. There are several regulators of KCC2 and/or NKCC1 expression, including brain-derived neurotrophic factor (BDNF), insulin-like growth factor (IGF), and cystic fibrosis transmembrane conductance regulator (CFTR). Therefore, regionally different expression of these regulators may also contribute to the regional developmental shifts of Cl− homeostasis. KCC2 and NKCC1 functions are also regulated by phosphorylation by enzymes such as PKC, Src-family tyrosine kinases, and WNK1–4 and their downstream effectors STE20/SPS1-related proline/alanine-rich kinase (SPAK)-oxidative stress responsive kinase-1 (OSR1). In addition, activation of these kinases is modulated by humoral factors such as estrogen and taurine. Because these transporters use the electrochemical driving force of Na+ and K+ions, topographical interaction with the Na+-K+ ATPase and its modulators such as creatine kinase (CK) should modulate functions of Cl− transporters.
Factors that affect regulation:
1. KCC2 is downregulated following central nervous system injury by the TrkB receptor signalling transduction cascade (activated by BDNF and NT-4/5).
Head injury during delivery or hypoxia are risk factors for neurological disorders.
2. Oxytocin (OXT) has been reported to modulate NKCC1 function during development. Shortly before delivery, OXT triggers the transient switch of the GABA response from excitatory to inhibitory by inhibiting NKCC1 activity in the hippocampal CA3 neurons. Parturition is initiated by a massive increase in oxytocin release, and maternal oxytocin crosses the placenta to reach the fetus. High expression of the oxytocin receptor (OXTR) was observed in the fetal hippocampus in the perinatal period. In immature cultured hippocampal neurons (2 DIV), oxytocin increased cellular viability both immediately after oxygen-glucose deprivation (OGD) and after 6 h of reoxygenation. Application of the NKCC1 inhibitor bumetanide during OGD demonstrated a neuroprotective effect after reoxygenation comparable to that of oxytocin, indicating that oxytocin may inhibit NKCC1 function.
Planned C-section does not expose the fetus to oxytocin and during emergency C-section, some drugs may be used that block oxytocin. Both are risk factors for autism.
3. KCC2 is downregulated by excitatory glutamate activity on NMDA receptor activity and Ca2+ influx.
4. Extracellular zinc upregulates KCC2 while intracellular zinc downregulates it. Neurons contain two major pools of Zn2+. One pool is composed of Zn2+ bound to intracellular proteins, such as enzymes, transcription factors and metal-binding proteins. This bound Zn2+ can be liberated into the cytoplasm during oxidative or nitrosative neuronal injury, leading to cell death. The second pool is synaptic Zn2+, packaged into a subpopulation of glutamate-containing synaptic vesicles by the Zn2+ transporter 3 (ZnT3), and released into the synaptic cleft during neuronal activity in a Ca2+-dependent manner. Vesicular Zn2+ regulates neuronal excitability and can strongly influence seizure activity. Indeed, removal of synaptic Zn2+by dietary means, chemical chelation, or via genetic deletion of ZnT3, leads to enhanced susceptibility to epileptic seizures, a phenomenon that may be reflective of some forms of human epilepsy. By comparison, elevation of Zn2+ levels either by dietary means or by direct infusion into the brain can delay seizures in kindled animals.
5. Both extracellular Zn and Mg block Calcium influx through the NMDA receptor, thus upregulating KCC2.
6. Small doses of Alpha Lipoic Acid downregulates NKCC1 while very large doses upregulate it.
7. Vitamin B6 and Olive Leaf Extract reduce TNF, thus, upregulate KCC2. Olive Leaf Extract also acts as a T-type calcium channel blocker (so its effects are similar to verapamil).
8. Brain-derived neurotrophic factor (BDNF) exerts a facilitatory effect on the expression of KCC2 mRNA and protein during development.
9. Triiodothyronine (T3) increased the expression of the NKCC1 protein in cultured cortical neurons at 14 and 21 days in vitro (DIV), while age-dependent change in NKCC1 expression is not influenced. T3 also enhanced the expression of KCC2 protein at 14 and 21 DIV and accelerated the developmental shift of GABA action from depolarizing to hyperpolarizing. Consistent with this study, in rats with hypothyroidism, the switching of GABA action in lateral superior olive neurons was delayed by 7 days, and decreases in the expression of KCC2 mRNA and protein in the hippocampus were observed at P10 and P15 (post natal day 10 and 15 resp.). The expression of the thyroid hormone receptor in the brain increases during the postnatal period.
10. The functional properties of NKCC1 and KCC2 co-transporters are reciprocally regulated by serine/threonine phosphorylation. The Wnk kinase family acts as an osmosensor which can lead to reciprocal regulation of NKCC1 and KCC2 in the central nervous system. Upon hyper-osmotic challenge or in conditions of low [Cl−]i, activation of Wnk1/3 leads to phosphorylation and activation of NKCC1 through OSR1/SPAK Ste20-type kinases and direct inhibition of KCC2 through phosphorylation of KCC2 Thr906 and Thr1006. This results in a net water influx which compensates for cell shrinking due to the hyperosmotic challenge. This process is known as a Regulatory Volume Increase (RVI). Conversely, under hypo-osmotic conditions, activation of KCC2 and inhibition of NKCC1 leads to a Regulatory Volume Decrease (RVD) acting to compensate cell swelling.
11. Cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-regulated Cl− channel that plays a role in neonatal rat spinal motoneurons. The gene activities of the NKCC1 and CFTR were positively correlated and increased between P1 and P8 (post day 1 and 8) in motoneurons of the rat spinal cord. A selective CFTR blocker, diphenylamine-2,2′-dicarboxylic acid, produced a negative shift in EGABA/Eglycine, indicating that CFTR induces depolarizing GABA/glycine-mediated synaptic events
12. Estradiol downregulates KCC2 mRNA in males but not in females. Subcutaneous administration of testosterone and dihydrotestosterone (DHT) upregulated KCC2 mRNA in both sexes.
Two drugs are being successfully used off label to influence the levels of chloride in the brain: Bumetanide and Verapamil. Bumetanide is a loop diuretic and is in phase 3 clinical trial in Europe for autism. Verapamil is a calcium channel blocker used to treat heart failure; it shows promising results in autistic patients.
It may not be wise to use these drugs in very young children. Instead, parents can try alternative supplements and diet changes. Please try these changes before moving to bumetanide and verapamil or other anti-psychotic drugs.
A good set of tests that reveal nutritional status, gut health, hidden allergies, genetic background (Genova Diagnostics Nutreval, Genova Diag stool test, SpectraCell, Alletess, 23andMe, Courtagen) is a must. They are usually not offered by most pediatricians. I had to call Genova Diagnostics to get a list of providers in my area. In Atlanta, I found ‘The M center for functional medicine’ for children and ‘Atlanta Functional Medicine’ for adults. Test thyroid and if there are problems, fix them.
Supplements that work are: NAC, broccoli sprouts powder, vitamin C, vitamin E, Alpha Lipoic Acid, vitamin B6, Magnesium, Zinc, Prebiotic and/or Probiotic that contain L. Acidophilus and L. Rhamnosus but does not contain Streptococcus, Omega 3, Glutathione, Olive Leaf Extract, Digestive Enzymes. Some kids respond very well to TMG/DMG while others react worse. Try everything in small doses because some antioxidants like Vitamin E and Alpha Lipoic Acid increase oxidative stress thus making problem worse when given in large doses.
Avoid: calcium supplements, acetaminophen, some antibiotics (erythromycins), things that increase inflammation through Tumor Necrosis Factor, Interleukin-6, IL-1, things that increase oxidative stress, forksolin, secretagogues for example the ones used to promote lactation (milk thistle, fenugreek). Some antioxidants have been reported to increase the activity of NKCC1 (e.g: quercetin). B1 vitamin deficiency increases NKCC1 activity through oxidative stress.
Hi hoppy… I would like to know about doctors name to whom you went for your sons treatment. I am living in Schaumburg, Illinois. My son is right now 18 months old and he is showing symptoms of autism. We are on our way to get him diagnosed.I am very concern about his future. I would like to know doctors name who can treat him. Please if you can help me I will really appreciate it.
I haven’t had much success convincing people how horrible the big farm is ((sic)), or how much true and lasting and permanent usually HARM is done by any and every shot in the dark.
((re the book: “A Shot in the Dark” ))…
We are all grown up and inundated with false information promoting death, voluntary death ! ((yes, this is very very hard to hear if all you’ve heard all your life is how ‘wonderful’ the united states is))
Well, I’ve spent 30 plus years by sheer grace btw, learning the truth about our system , every aspect of it, not just a few bad eggs…..
And , I don’t want to take away what people trust and rely on, even though it’s death-dealing, UNTIL they have something and SOMEONE very real and TRUSTWORTHY to ALWAYS be able to count on , to rely on , for strength and for life (EVERY situation) and for the life to come after this one. (yes, there really is a kingdom to come after this one, a brand new earth) (but we aren’t supposed to wait until we leave this life to start rejoicing and to HAVE PEACE AND JOY, that no man can take away).
giarcffej at ten.xoc ((dyslexia is sometimes okay (‘if’ you see things backwards, get it? 🙂 ) …. ))
Search, search, and keep searching, and you will find the truth, the answer about autism, and about most all other diseases that SOME PEOPLES never get.((and most americans NEVER USED TO GET, until drugs , manmade, started ))
How wonderful for your son! I love hearing these stories it gives me hope! Would you mind sharing what medical interventions haloed your son most?
I was wondering if you could share what medical interventions your son received. He sounds so similar to my sweet boy. Thank you!!
How wonderful that your son is recovered and that you are sharing this so others can do the same. I thank you from that and rejoice in what you and he have achieved. In unraveling my sons situation – may i be so bold as to ask if your son had Hep B shot soon after birth?
Thank you!
Hi Layla! My son did have all of his infant vaccinations, including Hep B. Definitely a factor in his eventual diagnosis.
I love hearing these stories!! Congrats! Jenny McCarthy once stated that she personally met families of over 60,000 recovered kids. With our peds failing our kids miserably, it is up to us Moms to show others how we healed our Autistic kiddos…..they are our future!
Were your kids born premature or via c-section ? oxytocin plays a very important role in nervous system maturation and the lack of exposure to it or some drugs that block oxytocin during birth highly increase the risk of autism
Hi Layla! My son, whose is now 9 is recovered too. He, however, did not get the Hep B shot at birth. I was provaccine at the time and knew nothing. A red flag went up though in the hospital when I was approached by a bully nurse – I stood my ground because his older brother didn’t get his first Hep B until 6 mo old. My youngest went on to receive 3 rounds of DTaP, IPV, and HIB at 2, 4, and 6 mo – which turned him from a very advanced preemie (he was holding his own bottle when his corrected age was only 2 weeks) to losing all of his milestones and developing symptoms known as Autism. He wouldn’t hold his bottle again for another year. Later he would be even more injured by anesthesia at 12 mo for an undescended testicle – that put him over the edge and it was supposedly the safer drug of choice? Every child is different – everybody has their own unique threshold of toxins their body can handle….the MD who assisted in his recovery was shocked when I told him that he did not get the Hep B. This doctor only treated vaccine injured kids and felt that this vaccine did the most damage.