By Mark Blaxill (Part 2 of 2)
The Clinic for Special Children has been operating in Lancaster County for nearly 20 years. They describe themselves as “a community-supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders.” Since 1998, Dr. D. Holmes Morton and his colleagues report having documented 39 distinct heritable disorders in the Amish and 29 in Mennonites. Behind the humanitarian impulse that certainly inspires their work lies a basic and rather stark reality: the recognition that the greater degree of inbreeding among the small Amish population promotes a greater incidence of genetic disease. One part pediatric missionary, one part research scientist with a target rich study population, Morton has spent most of his life providing health services to the Amish while also doing research and writing about them.
As a young man, Morton earned his way into some of the country’s elite medical institutions: after receiving his medical degree from the Harvard Medical School he did his residency at the Boston’s Children’s Hospital and went on to do medical research at the Children’s Hospital of Philadelphia (CHOP). His mission in life gained focus when, working at the CHOP in 1988, he diagnosed a case of glutaric aciduria (GA1) in a child in a child from nearby Lancaster County. Morton soon learned that GA1, a rare metabolic disorder, was unusually common among the Amish. The disorder can regress into permanent brain damage after an infection from a common childhood illness, or so he believed, many of which might be preventable with better organized preventive care. So alongside his focus on genetics, he has also adopted an aggressive approach towards pediatric vaccination.
Dr. Morton’s work has received widespread notice. Indeed, by the standards of traditional American medicine, Holmes Morton has lived an admirable, even an exemplary life. In deciding to dedicate himself to the problems of genetic disease in the Amish, he gave up a lucrative career as a research scientist and physician, but what he may have lost in income he has made up for in terms of public reputation. Morton won the Albert Schweitzer Prize for Humanitarianism in 1993, was named as one of Time Magazine’s “Heroes of Medicine” in 1997 and was awarded a MacArthur “genius grant” in 2003.
The CSC focus on genetic disorders that has guided Dr. Morton’s life’s work has led the CSC doctors to take a strong view of the genetic origins of disease, (a tendency in genetics clinics that I’ve analyzed in a previous essay HERE). In some cases, this has led them to withhold an autism diagnosis from their patients since they only recognize genetic conditions. As we’ve learned from one response to Rudy’s blog post, a woman named Martha Binckley, the CSC doctors often insist that children who are autistic are not.
This is an interesting subject to me because we are members of the Old Order River Brethren in the heart of Lancaster County and for all practical purposes most folks consider us to be "Amish". Dr. Kevin Strauss saw our son at the Clinic for Special Children three years ago. He would not give Randall a diagnosis for autism because he said these problems are usually genetic and though we have not discovered all genetic disorders out there it was obvious he did not want to give a diagnosis based upon behavioral symptoms alone. He conducted a battery of genetic tests including Fragile X and nothing showed up. He further recommended us to Early Intervention. We followed his recommendation and he had an evaluation with EI and was diagnosed with classic autism by the psychologist. Dr. Strauss admitted that he had the symptoms of autism but would not give him this diagnosis. We did not go back to the clinic for Special Children because we felt like they did not have anything more to offer us. Our son is a low-functioning autistic six year old who lost language and is currently nonverbal. He presents perfectly normal so I would classify his case as idiopathic classic autism.
As a pediatric practice, the CSC has also shown a strong and continued interest in imposing conventional vaccination practices on their Amish patient base. So, relative to other Amish populations, the patient base that engages with the CSC is far more likely to end up vaccinated. Martha Binkley’s comments on her autistic son continued and added further support to this point
On the issue of vaccines, our son was vaccinated at 4 and 7 months along with his twin sister. We then decided to discontinue vaccinating because we were uncomfortable with Randall's response to the vaccines– pale skin, and lethargy. We did not know at that point that he had autism and were unaware till he was 2 1/2 yrs. old.
Dan Olmsted identified the CSC and Dr. Morton as an interesting and potentially important source for his investigation of the Amish and autism early on. He decided to reach out to the CSC and made repeated effort to interview Dr. Morton. He began calling in 2005 and received no response. In early 2006, he got through to Morton’s wife and CSC co-founder Carolyn Morton and was able to interview her briefly. Here’s an excerpt from the interview:
Olmsted: I heard, and I don't know if this is correct, that Dr. Morton had some experience with Amish children who have autism. I've written some about that and talked to other folks who had not seen that, and so when I heard that I just wanted to call up and see if I could talk to him and see what his experience is so I could get a better picture of it for our readers. So that's why I'm calling….
Morton: Right. I know with some of the genetic disorders some of the children here do have autistic-like -- a syndrome that resembles that but whether or not it is really autism...
Olmsted: Right. Well, what you could do if you want is I'll give you my number and you can tell me a good time for me to call him back or whatever you want to do because he's a busy guy and I've got all the time in the world -- at least comparatively speaking. Let me give you my cell phone -- it's 202... --
Morton: OK. I will give him that message.
Olmsted: I sure appreciate it.
Morton: And uh, hopefully he can get back to you or we can get back with a good time to call back.
Olmsted: Great. I really appreciate it.
Morton: OK. Bye-bye.
And that was the last word Dan ever heard from anyone at the CSC. He made repeated attempts to follow up on this phone call, especially after an article published in the March 2006 edition of The New England Journal of Medicine (NEJM) provided data that the CSC had diagnosed autism spectrum disorders in six patients with a rare genetic disorder (see below). Dan has continued calling ever since, with the latest call coming as recently as the fall of 2007. He never received a return phone call.
Meanwhile, as Dan has received isolated reports of autistic (or in some cases mentally retarded) Amish children, he has continued to follow up with their families. In the process he observed a pattern: he kept hearing a drumbeat of stories about vaccine injury, and in at least one case, the injured child had received vaccination from the CSC. Dan has spoken at length with two families, including the parents who blame the CSC for their child’s vaccine induced brain injury (and including one case of autism). Amish families are normally quite camera shy, but because the parents of the injured children felt so strongly in each case, Dan has both of these interviews on tape.
With this as background on the CSC, let’s take a look at some of the range of questions and criticisms that have come up over Dan’s Amish reporting and how the CSC relates to many of them.
The first and most widespread comment has been a genetic counterpoint. This has come most prominently from the CDC, indeed from the Director straight to Dan. Dan asked Julie Gerberding directly at a press conference about conducting studies on unvaccinated populations. In a lengthy response, she did her best to deflect the Amish evidence.
I think those kind of studies could be done and should be done. You'd have to adjust for the strong genetic component that also distinguishes, for example, people in Amish communities who may elect not to be immunized (and) also have genetic connectivity that would make them different from populations that are in other sectors of the United States. So drawing some conclusions from them would be very difficult.
The Amish aren’t a representative population, according to this counter. If they have lower rates of autism this must be due to their unique genetic profile. Surprisingly, however, despite the widespread interest in defective Amish genes, Gerberding’s speculation that Amish genes might actually be protective for autism has not inspired a single investigation of the obvious. If there’s an anti-autism gene among the Amish why wouldn’t we want to find that too? Perhaps this study is in process somewhere, but until there is definitive proof, this idea that the Amish are an unrepresentative population due to their unique genetic profiles is pure (and so far unsupported) speculation.
Interestingly enough, the people who repeat this criticism of Dan’s work ignore the fact that he has explored the question of a protective Amish gene himself, and interviewed Duke University geneticist on just this subject. Margaret Pericak-Vance, one of the more prolific autism gene researchers, has also studied dementia in an Amish group and reported in a 1996 study that it is less common than in the outside Caucasian population. According to Dan’s reporting, “She found they also have a lower incidence of a gene called APO-E4. That gene is associated with Alzheimer's disease; in fact, ‘it's the one risk factor that's been confirmed in thousands of studies worldwide,’ Pericak-Vance said. Her deduction: Because the Amish she studied have less APO-E4, they have a lower incidence of dementia; her findings have been ‘just recently confirmed in some updated data we have with the Amish population.’”
A second criticism comes most prominently from the wackosphere: it is that Dan has been negligent in his reporting and has overlooked the CSC. The point of this criticism is simply to suggest that there are indeed large numbers of autistic Amish, but that Dan has just been avoiding the places where he is most likely to find them. These critics cite the 2006 NEJM article by Morton and his colleagues in which he studied 9 Amish children with a genetic disorder known as Cortical Dysplasia–Focal Epilepsy (CDFE) Syndrome, six of whom met the criteria for an ASD.
In fact, Dan has met and interviewed the family of one child whose history bore close resemblance to the CDFE Syndrome the CSC researchers described. The girl and her family are one of the two extensive videotaped interviews Dan has conducted in the last year with Amish families. It's not obvious from the tape that this child, obviously seriously impaired, is autistic: she has lost all her language but she also makes eye contact easily and seems quite socially connected. Distinguishing her autism from her severe mental retardation and seizure disorder is problematic.
Nevertheless, these parents describe a regressive condition in a typically developing child and blame the MMR vaccine for her regression. Is this child’s mental retardation a case of a rare genetic disorder similar to the kind the CSC study identified or a case of vaccine injury in an otherwise typically developing child? As we’ve learned in the Hannah Poling case, public health and pediatric authorities have a strong interest in dismissing vaccine injury as a genetic condition.
One final criticism comes not from the CDC or the wackosphere, but rather from private conversations with Dan himself. He would submit that any tough investigative journalist would suggest that he’s ignored the CSC in a different way: not that he hasn’t pursued them persistently enough for an interview on the Amish and autism, but rather that he hasn’t chosen to investigate the CSC as a source of excessive intervention in the traditional life choices of the Amish and for causing an unknown number of unreported cases of vaccine injury along the way. For a self-critical investigative journalist like Dan, that’s probably the critique of his work that concerns him the most.
For practical purposes, Dan has chosen to make the Age of Autism his focus. It’s a much larger investigation than the patient base of any individual pediatric practice, even an unusual one like the CSC. Taking on the potentially misguided impulses of a service-minded pediatrician like Dr. Morton hasn’t seemed to Dan like a very appetizing idea. After all, there’s nothing Dr. Morton is doing with respect to vaccination practice that’s any different than any other pediatrician in this country, it’s just that he’s working with a population that might have escaped vaccination otherwise. The issue is less Holmes Morton’s intentions, which are unquestionably honorable; rather it’s the unintended consequences of the belief system he represents that Dan is doing his best to challenge.
So let’s summarize the evidence Dan’s work has generated on autism and the Amish and clear up any potential misinformation and confusion that might have accumulated along the way.
• The Amish have both relatively low vaccination rates and very few reported cases of autism. This is not a simple black and white finding, however. Amish vaccination rates aren’t zero, nor are their autism rates. Dan has also uncovered reported cases of unvaccinated Amish children with autism. Contrary to the caricatures, Dan’s reporting has consistently made points about relative risk levels without making extreme or absolutist declarations. More to the point, it’s the numerous series of cultural and medical anomalies that make his work on the Amish so interesting. That’s the reason Dan launched his Amish coverage with a column entitled “The Amish Anomaly” and it’s why he has diligently reported the facts as he sees them, facts that fall on both sides of his theory of the case.
• Far from providing the definitive refutation of Dan’s work, the CSC is simply one of numerous data points and an obviously special case. As a source of diagnostic insight on autism, they’re not very reliable. The CSC doesn’t recognize autism according to parent reports, and describes its mission as being a genetic clinic. As we’ve seen before with such clinics, there is an obvious bias to look past the autism and seek genetic explanations. In the minds of the CSC, like those of other genetics clinics, there is no such thing as autism, only genetic disorders waiting to be discovered.
• More importantly, the CSC population is not very representative of the Amish patient population overall, since encounters with pediatricians there appear to lead to vaccination at a higher than normal rate relative to other Amish populations. To the extent that there are higher rates of autism (or of identifiable genetic disorders with co-morbid autistic symptoms) in the CSC patient population, that only lends support to Dan’s original hypothesis.
• Among the rare Amish families Dan has found with autistic children, some also report regression after vaccines and, like parents all over other parts of the country, attribute the autistic regression to vaccine injury. The push to vaccinate comes from many sources, but one of the most active and consistent efforts to vaccinate the Amish has come from the CSC. The unintended consequences of the CSC’s interference in traditional Amish health practices have never been challenged on an ethical basis and Dan has chosen not to pursue that challenge himself.
• The claim that the Amish have lower rates because they are more genetically homogenous has never been supported by any finding, let alone has it inspired a study. If the Amish evidence on autism rates is somehow not usable because their genes protect them, then why wouldn’t we do both studies at once: investigate rates of autism among unvaccinated Amish families while we also investigate the genes that might protect them?
After three years of ongoing work, Dan Olmsted’s coverage of autism and the Amish provides us with one of the most compelling narratives anyone has ever assembled around the vaccine theory of causation in autism. Yet despite this evidence and despite repeated calls from parents for a study of vaccinated vs. unvaccinated population autism rates, these calls have gone unheeded. The Maloney/Osborne bill has never come up for a vote.
Don’t you think it’s time?
Mark Blaxill is Editor At Large for Age of Autism.