Saving Eli: One Family’s Struggle with Autism

By Jim English

Eli was born a healthy and vibrant baby, welcomed into the world and embraced by his overjoyed parents and two brothers in 1993. Three years later Eli’s family sat in silence as a team of specialists announced that Eli was autistic. We’d known for some time that something was terribly wrong, but hearing the words and grasping their meaning remains a moment frozen in time, as all hope of a normal life for our family seemingly slipped away.

When we asked about his long-term prospects, the professionals tried to sound upbeat as they outlined our choices. If we could afford therapy, and if Eli responded, and if everything went well, we were told that Eli might be able to speak a few words…eventually. Eli might be able to live at home…for a time. And Eli might eventually be able to move in to a supervised group home as an adult, and possibly even hold a job of sorts some day…say sacking groceries. These are not the words a parent wishes to hear. Eli is my son.

As the shock slowly settled in, my wife and I tried to sort through our options. Early intervention is critical in cases of autism: the earlier one can begin to affect therapy the better the chances for a happy outcome. In our case, both my wife and I initially rejected behavior modification. And though fearful of making a mistake, my wife agreed to try a nutritional approach to helping Eli.

In a matter of days we had gathered enough research on alternative therapies to begin to take some small steps towards helping Eli.

Melatonin: Our nights, like those of many parents dealing with this issue, were a constant struggle as Eli could not sleep for more than a few hours. With a small dose of melatonin (0.5 to 1.5 mg) before bed time, to our amazement and relief, Eli was soon sleeping through the night, and we began to catch up on our rest.

5-HTP: While not clearly understood, researchers know that serotonin pathways are disturbed in autism, contributing to sleep disorders and mood. Tryptophan has been shown to help but has been banned by the FDA since 1989. We found that 5-HTP helped immensely, calming tantrums and increasing communication with our son.

B6/Magnesium: Neither of these compounds tastes very pleasant, which was a major problem. Our son, like most autistic children, was very sensitive to taste, and his choice of foods was very restricted: oatmeal, bananas, chocolate and fruit juice; all other foods were rejected. Whenever we slipped B6, magnesium and other B vitamins into his food we found that any alteration in the expected taste would result in the immediate rejection of the food and a tantrum.

DMG: As with melatonin, the benefits of DMG were almost immediate. Within three days of diagnosis, I spoke with Bernie Rimland, Ph.D., a gifted clinical psychologist who specializes in the nutritional treatment of learning disorders. Based on his recommendations, I gave DMG to Eli. Three days later my wife and I ordered some takeout at a fast food drive-through. After giving our orders a small, sweet voice from the back seat suddenly piped up, ‘Kids meal, cheeseburger, ice-water.’ The hair stood up on my arms, and barely moving, I glanced sideways at my wife to see that she, too, was struggling to hold back the tears. Not only was this a breakthrough in language, but it was also the first time our son ate any food other than his limited repertoire. From that day forward, cheeseburgers, fries and ice-water became not only a source of food for our son, but also an important part of his road to recovery. Whatever works.

Methyl Caps: Eli’s language continued to improve dramatically, but still we were faced with getting B vitamins into his diet. One day, while editing an article on homocysteine, I suddenly realized what I was looking at. Methyl Caps, a formula designed for heart health and homocysteine control, looked surprisingly similar to the nutrients I was struggling to give my son. Methyl Caps provided B6, folic acid, B12 and Betaine, also known as TMG or trimethylglycine. Intrigued, I began to look through my collection of data, looking for clues. I found that approximately 40% of children with autism have been shown to suffer a disturbance in methylation, a process whereby methyl groups are attached to proteins in the body. The effects on body chemistry can be profound, as is seen in the control of homocysteine, the amino acid implicated in heart disease.

Most intriguing was the TMG in Methyl Caps. Like DMG, TMG is a sweet, almost tasteless nutrient. And like DMG, TMG is a powerful methyl donor, but one providing three methyl groups, not the two found in DMG. Best of all, I found that TMG, as found in the Methyl Caps formula, rendered the B vitamins tasteless. Not only was I able to secretly mix Methyl Caps into his foods, and in relatively large amounts, but I could even get away with adding the formula to plain water! Within days of this discovery, we were able to keep our son on a constant diet of B vitamins, TMG and other nutrients. The results were a steady and continued improvement in his language, social skills, and overall development.

Today…a Normal Little Boy 

Today, as I write this, Eli is preparing to start the first grade at the local school. He is full of life, and radiates love and energy. He is as likely to be running through the library, chatting up children and adults, as he is to be competing with his older brothers for time on the home computer to play his games or surf the internet looking for stories on the Powerpuff Girls or Pokemon. He was the star pupil in kindergarten last year, and during summer school, his teachers couldn’t figure out why he was classified as a special student. When I told them his story they couldn’t believe that he was ever anything other than a gregarious, affectionate and life-embracing little boy.

Our family has been fortunate in a way that most parents of autistic children can only dream of: we have our son. I hope our success can in some way help as other parents struggle to save their children.

About Autism

Aside from possibly watching Dustin Hoffman’s performance as an autistic savant in the movie Rain Man, few people have been exposed to the neurological disorder known as autism. This situation is changing and public awareness is growing as the media, government and medical authorities begin to recognize what has been painfully obvious to the parents of autistic children, that this disabling condition is on the rise. Incidence of autism has increased dramatically over the last two decades, and it is now estimated that autism and its associated behaviors occur in as many as 1 in 500 individuals. (1) What was once a rare condition is now turning up with alarming regularity in hospitals and school districts in the U.S., Britain and other developing nations.

A Spectrum Disorder 

Autism is a disorder that affects boys four times more than girls. Autism is referred to as a spectrum disorder because of the presence of a wide variety of symptoms and behaviors that can appear in any number of combinations. Symptoms generally appear before a child turns three and can range from mild to severe.
Autistic children tend to avoid direct eye contact and may shun physical touch due to heightened or abnormal sensory integration responses to sight, hearing, touch, smell, and taste. They may also fail to recognize facial and visual cues used to convey such basic human feelings as anger, fear and happiness, contributing to unusual responses to people and impaired social interactions with family and peers.

Children and adults with autism can experience difficulty with verbal and non-verbal communication, and may not speak despite a high rate of comprehension for the meaning of familiar words. Frequently autistic children may repeat or echo (echolalia) spoken phrases directed at them, but remain unable to initiate or maintain a conversation.

Many autistic children become intensely preoccupied with objects such as trucks, trains and machinery. They may also have a profound dependence on routine activities and meaningless rituals, and exhibit a marked level of distress whenever faced with a change in their patterns. Autistic children can also be prone to repetitive body movements, such as hand flapping and rocking, and self-injury. (2)

Diagnosing Autism 

Diagnosing autism is complicated by the fact that many of the behaviors observed are also present in other developmental disorders that are collectively referred to as Pervasive Developmental Disorders (PDD). PDD include Asperger’s, Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), Rett’s Disorder, and Childhood Disintegrative Disorder. Due to the complexity of sorting through these overlapping behaviors, diagnosis is generally conducted by a multi-disciplined team of specialists (neurologists, psychologists, developmental pediatricians, speech/language therapists, learning consultant) based on direct observation of a child’s communication, behavioral, and developmental levels.

Causes of Autism: The Genetic Connection 

Researchers are devoting considerable time and energy to understanding the origins of autism. But given the wide range and severity of symptoms, it is highly unlikely that a single specific cause will be found. Despite the challenge, new research is beginning to shed some light on factors contributing to autism and PDD.
Researchers working to decipher the genetic influences on autism have found some evidence for gene involvement, but no exact mode of inheritance has as yet been uncovered. Researchers know that autism and its related disabilities can reoccur in families, suggesting a highly complex, genetic basis that probably involves several genes in combination. (3) Recent work by researchers at the University of North Carolina suggests the discovery of a gene on chromosome 13 that possibly causes autism. ‘For a long time autism was not viewed as being a genetic disorder,’ said Dr. Joseph Piven, director of the university’s Mental Retardation and Developmental Disabilities Research Center. ‘It has a high degree of heritability, confirmed by twin studies that show a substantially higher rate in identical twins, so much so that heritability is over 90%.’ According to Piven, families with an autistic child run up to a 5% risk of having a second child with autism. ‘The data are pretty overwhelming that autism is strongly genetic, more so than schizophrenia or diabetes.’ (4)

Further support for a genetic component in autism has been revealed in newly published research conducted by Patricia Rodier, professor of obstetrics at the University of Rochester. Rodier had previously noted that brain stem abnormalities in autistic children were remarkably similar to the damage observed in animals exposed to thalidomide. Her study identified variants of a gene, HOXA1, found in autistic children. HOXA1 plays a central role in the development of the embryonic brain stem. The altered HOXA1 gene has been linked to disruption of cranial nerves in developing embryos, which may help explain both the observed brain stem abnormalities and impaired vocalization and communication common to autism. (5)

The Bacterial Connection

While genetic scientists attempt to isolate genes that contribute to this disorder, other researchers continue to follow new leads. Recent evidence indicates that environmental components such as viruses, bacteria, environmental toxins and vaccines may trigger autism in genetically susceptible sub-populations, affecting multiple metabolic pathways and leading to disruption of the nervous and the immune systems.

New research published in the July 2000 issue of ‘Journal of Child Neurology’ has spurred investigation into the involvement of bacteria in autism. Dr. Richard Sandler of Rush Children’s Hospital in Chicago conducted a study in which 11 autistic children with painful gastrointestinal problems were treated with the antibiotic drug vancomycin. Ten of the children showed improvement based on neuropsychological testing, but the benefits faded shortly after administration was discontinued. The theory being investigated is the prior use of antibiotics kills normal gut-protective bacteria, allowing intestinal infections that produce toxins that affect the brain. More research on bacterial involvement in autism is being planned.

The Vaccine Connection 

The most controversial theory involves the role of vaccinations in triggering the onset of autism, a not altogether new concept. In 1964 Bernard Rimland, Ph.D., suspected a link between the DPT (diphtheria-pertussis-tetanus) vaccination and autism, based on responses from parents of autistic children following the publication of his book, Infantile Autism. Many parents reported that their children were completely normal until they received the triple vaccine DPT shot, after which there was a marked deterioration.

More recently, data collected by Rimland and the Autistic Research Institute has found that from the 1960s through the early 1980s, children born autistic outnumbered children whose symptoms first appeared at 18 months by a factor of 2-to-1. Then, in the early 1980s after the introduction of the MMR (Measles, Mumps and Rubella) triple vaccine, the ratio reversed; now the ‘onset at 18 months’ children outnumber the ‘onset at birth’ by 2-to-1. (6) (See Figure 1.)

Gut-Brain Connection

Autistic children frequently suffer from problems related to the gastrointestinal tract. Some of these problems include immune dysfunction and allergies, possibly caused by gut permeability, translocation of undigested proteins and poor nutrient absorption. Many autistic children also have poor control over bowel functions. These problems underscore a gut-brain connection in autism, and the recent excitement over the gut and brain hormone, secretin, hints at some of the underlying factors. Secretin is a peptide hormone that, in the gut, stimulates pancreatic secretion. After recent publicity about a child with autism whose condition markedly improved after a single dose of secretin, thousands of parents of autistic children rushed to have their children treated with secretin injections.

Unfortunately a highly anticipated double-blind, placebo-controlled trial of a single intravenous dose of secretin in 60 autistic children (ages 3 to 14 years) found no difference between the hormone and a placebo. It may be that a single dose of secretin was too low to be of any benefit. Curiously, after being informed of the results, 69 percent of the parents of the children in this study said they remained interested in secretin as a treatment for their children. However, researchers drew the conclusion that a single dose of synthetic human secretin is not an effective treatment for autism or pervasive developmental disorder. (7)

New Theory Targets a Vaccine Component 

A new theory tying the role of genetics, vaccinations and gut-brain hormones together links the onset of autism to the disruption of the G-alpha protein, a protein that affects retinoid receptors in the brain. A study of sixty autistic children suggests that autism may be caused by inserting a G-alpha protein defect, the pertussis toxin found in the DPT vaccine, into genetically at-risk children. This toxin separates the G-alpha protein from retinoid receptors. Those most at risk report a family history of at least one parent with a pre-existing G-alpha protein defect, including night blindness, pseudohypoparathyroidism or adenoma of the thyroid or pituitary gland. (8)

According to the researcher, natural vitamin A may work to reconnect the retinoid receptors critical for vision, sensory perception, language processing and attention. More research is needed, but given the current state of knowledge of this vitamin, it would appear a safe therapy.

Treatment Options 

Parents of autistic children quickly become overwhelmed as they search for a cure for their child’s ailment. At this time there is no cure for autism, and the sheer complexity of the disorder makes choosing a treatment a frustrating task that is often more trial-and-error than science. Some of the current available therapies include:

1. Elimination Diets, designed to remove foods containing gluten, casein and allergens from the diet is another approach that has offered marked improvement in many autistic children.
2. Applied Behavior Analysis (ABA), pioneered by Ivar Lovas in the mid-60s at UCLA, is a widely accepted form of behavior modification used to teach autistic children helpful behavioral management techniques.
3. Enzyme Potentiated Desensitization (EPD), a method of immunotherapy developed by immunologist, Dr. Leonard M. McEwen, in England in the mid ’60s. The method involves desensitization with combinations of a wide variety of extremely low dose allergens given with the enzyme, beta-glucaronidase.
4. Rhythmic Entrainment Intervention (REI), a musical therapy program which uses specific rhythmic patterns performed on a hand drum to aid individuals with neurobiological disorders, including autism and related developmental disabilities.
5. Drugs evaluated as treatments for autism have produced very inconsistent results, and most possess serious side effects. Naltrexone is a medication initially developed for the treatment of narcotic or opioid dependence that blocks the action of endogenous opioids at opiate receptors; endorphins are opiate-like substances in the brain and are associated with pleasure (e.g., runners’ “high,” sexual activity) and/or an anesthetic-like feeling. One theory states that autistic individuals have too much beta-endorphins in their central nervous system. This theory is that naltrexone blocks the action of opiate receptors, and thus, reduces the level of endorphins. Some of the improvements noted in autistic individuals who have taken naltrexone include: increased socialization, eye contact, and general happiness; normalized pain sensitivity; and a reduction in self-injury and stereotypic (self-stimulatory) behaviors. (9)

According to Temple Grandin, Ph.D., a professor at Colorado State University who has dealt with her autism and become a highly respected expert on the disorder, many adults with autism can be helped by the careful use of medications. Some of the newer antidepressants such as Anafranil (clomipramine), Prozac (fluoxetine), and Zoloft (sertraline) are often more effective in autism for controlling racing thoughts, obsessions, and reducing anxiety. For controlling aggressive outbursts in teenagers and adults, very low doses of the new atypical antipsychotic drugs such as Risperidal (risperidone) and Zyprexa (olanzepine) are often helpful. Depakene (valproic acid) is sometimes useful for controlling aggressive behaviors that are cyclical.

Grandin cautions that effective doses for many medications in people with autism is often lower than for normal people stating, “The risk of side effects must be weighed against the benefits of the medication. A good rule of thumb is that an effective medication should have a fairly dramatic effect. If the medication had only a slight effect then the benefit is not great enough to be worth the risk of taking it. Parents, teachers and the person with autism are the only people who can really evaluate if a medication is effective for controlling anxiety, hyperactivity, behavior problems, obsessions or aggression.” (10)

DMG/TMG 

DMG (dimethylglycine) has been shown to enhance the function of the immune system of laboratory animals. In fact, the immune systems of animals given DMG responded to infection 300% to 1,000% better than did controls. (11) Based on his observations and reports from parents of autistic children, Bernard Rimland recommends DMG for autism saying, “I am firmly convinced that DMG is helpful to a substantial proportion of autistic children and adults.”

Rimland’s initial interest in DMG began in 1965 when Russian investigators reported improvements in the speech of 12 out of 15 mentally handicapped children who had been unable to communicate prior to treatment with DMG. In addition to enriched vocabulary, the children began to use simple sentences, their general mental state improved, and there was better concentration and interest in toys and games.

According to Rimland, “If DMG is going to work, its effects will usually be seen within a week or so, though it should be tried for a few weeks or a month before giving up.” In some cases dramatic results have been seen within 24 hours: A Los Angeles mother was driving on the freeway, three-year-old Kathy in the back seat, five-year-old mute autistic son Sammy in the front. DMG had been started the day before. Kathy began to cry. Sammy turned and spoke his first words: “Don’t cry, Kathy.” The mother, stunned, almost crashed the car.

Vitamin B6 and Magnesium 

Vitamin B6 has a remarkable record of providing positive results in treating autistic children. A German investigator, V. E. Bonisch, reported in 1968 that 12 of 16 autistic children had shown considerable behavioral improvement when given high dosage levels (100 mg to 600 mg per day) of vitamin B6. Three of Bonisch’s patients spoke for the first time after the vitamin B6 was administered in this open clinical trial. (12)

Following publication of his book, Infantile Autism, Rimland launched a large-scale study of vitamin B6, niacinamide, pantothenic acid, and vitamin C involving over 200 autistic children. At the end of the four-month trial it was clear that vitamin B6 was the most important of the four vitamins being investigated, bringing about remarkable improvements in some cases. Between 30% and 40% of the children showed significant improvement when given vitamin B6. (13)

Two years later, Rimland initiated a double-blind placebo-controlled crossover experiment of vitamin B6 and magnesium therapy on autistic children. Sixteen autistic children received B6 in doses ranging from 300 mg to 500 mg per day along with several hundred mg/day of magnesium and a multiple-B tablet. In both studies the children showed a remarkably wide range of benefits from the vitamin B6, including better eye contact, less self-stimulatory behavior, more interest in the world around them, fewer tantrums, and improved speech. (13)

Melatonin 

One of the most common and troubling times for parents of autistic children is when the children cannot fall asleep effectively. Melatonin has been shown to help many restless autistic children (and their exhausted parents) establish more natural sleep patterns. According to Jaak Panksepp, Ph.D. of Bowling Green State University, up to 50% of autistic children exhibit disturbed sleep patterns, suggesting some form of deficit in the brain system that promotes normal sleep. “It is likely that for presently unknown reasons, the brains of some autistic children are deficient in this important chemistry. If so, early supplementation with this hormone may be essential for normalizing development.” (14)

Panksepp recommends melatonin 0.7 to 1.0 mg be given only once a day, about half an hour before the regular sleep-time.

Culturelle™ (LGG) 

The Great Plains Laboratory for Health, Metabolism, and Nutrition in Overland Park Kansas, specializes in the testing of abnormal organic acids and microbial metabolites in urine to determine the presence and effects of yeast and bacteria in children with autism and other disorders. In addition to treating patients with the antifungal drug Nystatin, Dr. William Shaw, director of the laboratory routinely prescribes Lactobacillus GG (LGG), a proprietary probiotic sold under the trade name Culturelle™, to normalize gut flora and minimize the growth of bacteria that produce dihydroxyphenylpropioic acid-like compound (DHPPA-like compound), a tyrosine derivative. According to Shaw, patients with high DHPPA-like compound values almost always have severe neurological, psychiatric or gastrointestinal disorders, such as autism, depression, psychotic behavior or schizophrenia. Several patients with high DHPPA-like compound values have also been found to test positive for Clostridium difficile, leading Shaw to the conclusion that Clostridia species were responsible for production of this compound. Common results of Dr. Shaw’s treatment include dramatic increases in sociability and mood, remission of facial tics, and improved learning.

Summary 

The incidence of autism is increasing and researchers are scrambling to discover the numerous and varied elements of this disabling condition. At present there is no cure and clearly more research is needed to help those stricken with this disability. However, research does indicate that select nutritional supplementation can have some desirable, positive effects.

References

1. Christopher Gillberg, Centers for Disease Control and Prevention Conference. Autism: Emerging Issues in Prevalence and Etiology. 1997.
2. Wolaich, ML, Felice, M, Drostart, D. The Classification of Child and Adolescent Mental Diagnoses in Primary Care. Elk Grove Village, Ill: American Academy of Pediatrics, 1996: 3 16-317.
3. Smalley SL, Genetic influences in autism. Psychiatr Clin North Am 1991 Mar 14:1 125-39.
4. Piven J, Palmer P, Psychiatric disorder and the broad autism phenotype: evidence from a family study of multiple-incidence autism families. Am J Psychiatry 1999 Apr 156:4 557-63.
5. Eric Courchesne, Brainstem, Cerebellar and limbic neuroanatomical abnormalities in autism. Current Opinion in Neurobiology 1997, 7:269-278.
6. Bernard Rimland, excerpt from the testimony presented before the House Committee on Government Reform on April 6, 2000.
7. Sandler AD, Sutton KA, DeWeese J, et al., Lack of benefit of a single dose of synthetic human secretin in the treatment of autism and pervasive developmental disorder. N Engl J Med 1999 Dec 9 341:24 1801-6
8. Mary N. Megson, M.D., F.A.A.P., Is Autism a G-Alpha Protein Defect Reversible with Natural Vitamin?, presented at the Defeat Autism Now Conference, 1999. Pediatric and Adolescent Ability Center, Richmond, Virginia.
9. Stephen M. Edelson, Ph.D., Naltrexone and Autism, Autism Research Review International,1995.
10. Temple Grandin, Ph.D., A Perspective on Medication From a Person with Autism, Autism Society of America, Bethesda, MD.
11. Reap EA, Lawson JW. Stimulation of the immune response by dimethylglycine, a nontoxic metabolite. J Lab Clin Med 1990 Apr 115:4 481-6)
12. Bonisch E, Experiences with pyrithioxin in brain-damaged children with autistic syndrome. Prax Kinderpsychol Kinderpsychiatr 1968 Nov-Dec 17:8 308-10.
13. Bernhard Rimland, Ph.D., Vitamin B6 (and magnesium) in the treatment of autism. Autism Research Review International, Vol. 1 (4), 1987.
14. Panksepp, J., Lensing, P., Leboyer, M., & Bouvard, M.P. (1991) Naltrexone and other potential new pharmacological treatments of autism. Brain Dysfunction, 4, 281-300.