Dr. Cannell: I saw an article from a Toronto newspaper about your theory on autism and vitamin D. I am currently searching for a vitamin D specialist in the Northern Virginia/Washington DC area to perform a medical work up on my daughter to look for vitamin D‑related disorders. The reason I am in search of a vitamin D specialist is that I believe I have stumbled upon a complex relationship in my daughter involving her foot pain, vitamin D, and her autism.
In April 2006, a few weeks after my 3-year-old, profoundly autistic daughter began refusing her daily PediaSure drink, she began having excruciating foot spasms lasting from 10–30 minutes at a time, several times a week. She would throw herself on the floor, curl her toes, slam her heels against the floor, and rub the tops of her feet against the carpet, all while screaming the entire time. These were horrible for her to endure, and horrible for my wife and myself to watch. This went on for a year.
From what I read, the symptom was perhaps like foot spasms associated with carpopedal syndrome or tetany. But her blood work did not support that at all. Calcium level was normal (10.2 mg/dL); vitamin D, 25-Hydroxy low (23.5 ng/ml); activated vitamin D 1,25 Dihydroxy normal (24.7). Despite some vitamin D deficiency, I was assured by medical professionals that nothing supported a vitamin D cause of these particular spasms, so vitamin D was dismissed. Because her calcium level was normal, she did not have tetany, and vitamin D could not be the cause of the pain.
All medical consultants were stymied. I made another research effort and found a 2003 article on WebMD that stated vitamin D has been found to have some link to basic, unexplained muscle and bone pain. By chance, vitamin D was the next supplement we had at home to begin giving my daughter to treat her autism. So, in April 2007 we began giving my 4 year-old profoundly-autistic daughter Vitamin D supplements. Her foot spasms which had plagued her for a year diminished within days and disappeared within three weeks. She has not had a spasm in over two months.
In addition, we noted clear improvements in her autistic condition which appear to be from the vitamin D supplements (although obviously we are less certain of this benefit than we are of the disappearance of her foot pain). Eye contact went from zero to fantastic. Her vocalizations increased markedly (still only babbling; she remains completely nonverbal). She appears even happier than previously (she has always been a somewhat happy child). (Please note that my wife and I have tried many dietary supplements over the past 1.5 years guided by a doctor and dietician who both specialize in autism. We honestly state that this is the only thing that has ever had a positive effect on my daughter. We have seen nothing else work.)
My daughter and vitamin D have a complicated relationship. By all counts, looking at her lab work and general condition, vitamin D should have played no role in those excruciating foot fits. And yet it is apparently exactly what is involved in them. And, my wife and I believe at the same time her autistic condition has improved from the vitamin D. The foot fits and her autism appear linked; it was not just a coincidence that this autistic child has those mysterious foot spasms, and the link appears to be vitamin D.
And so I wonder if this is just the tip of the iceberg, if perhaps there is more to know about my child’s relationship with vitamin D and what that might mean for her autism. Does she have a specific vitamin D-related disorder? If so, might direct treatment of it also improve her autism further? These are the questions I would like to pose to a vitamin D specialist who could perform a medical work up on my daughter. Please let me know if you know of anyone in the Northern Virginia/Washington DC area. Also, where is the best place to get vitamin D? Thank you for your time. Paul Washington, D.C.
I know of no such specialist in the Washington area. As far as a specific “vitamin D disorder” linking her spasms, autism, and vitamin D, I know of none. It sounds as if PediaSure was her only regular source of vitamin D? If so, her spasms began two weeks after stopping the small amount of vitamin D in PediaSure. They continued for a year, ending a few days after you started giving her vitamin D again—this time in the form of a supplement. Several weeks after restarting vitamin D, both you and your wife noticed an improvement in her autism.
As no medical literature has yet been published on any of this, all you can do is give her enough vitamin D to get her 25-hydroxyvitamin D, known as 25(OH)D or calcidiol, into high normal ranges and then wait and hope. Vitamin D’s extraordinary mass-action pharmacology implies that simply providing more substrate 25(OH)D will help children with low enzyme activity produce more activated vitamin D (calcitriol) in their brains. The vitamin D theory of autism is not simply that vitamin D deficiency in gestation or early childhood causes the disorder. Instead, the theory holds that a quantitative or qualitative abnormality exists in the enzyme system that activates vitamin D.
It could be as simple as the normal variation in the enzyme, an enzyme whose activity would vary in a normal or Gaussian distribution, much like height. Some people are tall, some are short, most are in the middle. The same may be true of the enzyme that forms activated vitamin D (calcitriol), some children have a lot and some only a little; most are in the middle. As 25(OH)D (the raw material the enzyme metabolizes) levels have fallen over the last 20 years with sun-avoidance, more and more children on the low end of the enzyme curve are effected by marginally-low 25(OH)D levels, explaining both its genetic basis and exploding incidence.
At this point, all you need is a physician willing to periodically measure your daughter’s 25(OH)D level. Once you have that, you can safely supplement your daughter with higher than the current upper limit for children (2,000 IU/day). You did not tell me your daughter’s weight but, assuming she weighs about 30 pounds, even without blood tests of 25(OH)D, you can safely give her 50 mcg (2,000 IU) a day. In fact, the U.S. government says this dose is safe for children over the age of one. Beware of cod liver oil—do not use it because vitamin A inhibits the actions of activated vitamin D and there is a potential for low-grade vitamin A toxicity.
Remember, more and more researchers now believe autism is a progressive, inflammatory disorder. That is, the inflammation probably progressively destroys brain tissue as the child ages. As I said in my recent paper on vitamin D and autism, I think there is a chance that vitamin D may have a treatment effect in young autistic children if given in adequate doses. Mainly due to its anti-inflammatory properties and its ability to upregulate glutathione, the master antioxidant that also chelates (binds) and excretes heavy metals like mercury. Unfortunately, I see no way—even if the vitamin D/autism connection turns out to be correct—that vitamin D can regenerate brain tissue. But, if vitamin D stops the inflammation and cell death, the brain could then begin to develop and learn. These are big “ifs”. However, you have nothing to lose by trying, the worst that will happen is that it will not help and vitamin D will be added to the long list of false-hope treatments.
Actually, there is a worse possibility. Say the parents of a three-year-old autistic child decide today that vitamin D is nonsense—another false hope—and that I am a quack. They decide not to give vitamin D supplements to their autistic child, who is probably—like your child—vitamin D deficient. Then, 5 years from now, scientific evidence shows vitamin D does indeed help. By that time, the child will be 8 years-old and will have suffered additional, irreparable brain damage. In my mind, that is more tragic than another false hope.
Dr. Cannell: After that article appeared in the Toronto paper, I started my 4-year-old son on 1,000 IU of vitamin D two weeks ago. So far the only thing I noticed is that after about 10 days, he didn’t seem so miserable. The thing that has always broken my heart is that look of sadness and suffering on his face. I wouldn’t say he looks happy now but that look of misery seems to be gone. Will it come back? I’m not sure I can take it if it comes back. What else might happen? Also, last summer we noticed he seemed to get better, but then he got worse in the fall. We never thought about it until we read about vitamin D. Susan Toronto, Canada
I don’t know. I think all parents have had their heart pierced by that look at one time or another. I would advise increasing the dose to 2,000 IU/day—make sure it is cholecalciferol and not ergocalciferol—and having your doctor order a 25(OH)D test every 2–3 months to see if higher doses are needed. You want to get his blood level up to between 50–80 ng/ml and keep it there, summer and winter. To do so may take more than 2,000 IU/day in the winter. (In many countries outside of the USA, that would be reported as between 125–200 nmol/L.) If vitamin D has a treatment effect, it will take many months to see its full effect. If the theory is correct, autistic children who spend time outdoors in the summer should show some seasonal improvements—if they don’t wear sunblock and if they expose enough skin to generate significant amounts of vitamin D.
Dr. Cannell: I resent you calling autism a tragedy. My son is not a tragedy and I’m glad he was born and is in our lives. He is our joy. Autism is not a tragedy. Emma London, England
I have no doubt that he is your joy and that you love him. I am new to the autism field and was not aware how much thought and speech control exists in the discussion of the disease. Nevertheless, I have a few politically incorrect questions. If autism is a joy, I assume you would like other parents to have an autistic child? If autism is such a joy, why is there a huge industry forming to prevent and treat it? At the risk of sounding insensitive—apparently one of the most serious charges leveled in the autism debate—autism is a tragedy. As I pointed out in my paper, research shows that having an autistic child puts the family under more stress than having a child with a fatal illness.
Dr. Cannell: Who are you to write an article on autism? You didn’t even publish it in a medical journal. You are not with a university. You have not published very much. You have no expertise on autism. No autism experts support your theory. There is no evidence to support the theory. Shouldn’t you leave this to experts before you give parents more false hopes? Mary Trenton, New Jersey
You are right, I am a nobody—just ask my ex-wife. I explained why I have not yet submitted the paper to the Toronto Globe. As far as giving false hopes, I’ve thought about that charge. Right now, regardless of what advocacy groups say, autism is rather hopeless. That is, no known treatment has been shown to materially affect the clinical course of autism. As a psychiatrist, my observation is that most people would rather live with a false hope than with no hope.
If autistic children began taking vitamin D, the worst that can happen is that a period of false hope will be followed by dashed hopes, then the parents will be back to the hopelessness with which they began. In the meantime, they will have at least made sure their child was vitamin D sufficient. Childhood vitamin D deficiency is a serious problem.
As far as the theory having no support from experts, Dr. Richard Mills, research director of the National Autistic Society in England, was quoted in the Telegraph article on the autism/vitamin D theory:
“There has been speculation in the past about autism being more common in high-latitude countries that get less sunlight and a tie-up with rickets has been suggested—observations which support the theory.”
Finally, you said there is no evidence to support the theory. I assume you meant there is no proof. The first statement is absolutely false, the second absolutely true. As I detailed in my paper, there is a lot of evidence to support the theory. In fact, if anyone can come up with an autism fact that the theory cannot explain, I’d like to know about it. Even the announcement of a link between television viewing and autism supports the theory. Furthermore, the TV/autism link is actually evidence of a treatment effect. That is, if autistic children who play outside in the sunshine more—and therefore watch less TV—have less-severe illness, it may be due to the Sun-God, who bestows her precious gift of calcitriol into the brains of children playing outside in her sunlight, but not into the brains of children watching
TV inside in the dark.1
As far as proof the theory is true, there is, of course, none. In medicine, proof means randomized controlled trials, the gold standard for proof. However, proof is the last step, not the first. First comes evidence, then a theory, then come researchers disproving those theories. It works that way. Sometimes we never get to the last step, proof. For example, please point me to a single randomized, controlled trial that proves cigarette smoking is dangerous—there isn’t one. Instead, the convincing evidence of smoking’s dangerousness lies in thousands of epidemiological studies, but no randomized controlled trials. Proof, or disproof, of the autism vitamin D theory will take years—during which young autistic brains will continue to suffer irreparable damage. Perhaps vitamin D’s powerful anti-inflammatory actions will help prevent that damage, perhaps not?
It’s something of a Pascal’s wager, betting on vitamin D instead of the existence of God, risking your child’s brain instead of eternal damnation. “If you believe vitamin D helps autism and turn out to be incorrect, you have lost nothing—but if you don’t believe in vitamin D and turn out to be incorrect, your child may suffer irreparable brain damage that could have been prevented.”