Naturopathic pediatrics and genetic testing

genetic testing personalized medicineNaturopaths think they can treat genetic diseases. This is incredible, considering naturopaths are not taught genetic testing, let alone understand the basics of genetics and pathophysiology—they are self-taught.

Self-study cannot replace real medical training. Such deficiencies are on full display any time naturopaths speak publicly about the details of their medicine.

I just listened to a webinar in which Jared Skowron, N.D. shared elaborate stories about diagnosing and treating children with Fabry disease and schizophrenia. His talk was hosted by the Association of American Naturopathic Medical Colleges to hook prospective students into attending naturopathic school. (Naturopathic school is a bad value.)

Skowron began by bragging about his short work week and how much he loves his job. He went on to describe how he diagnosed patients with genetic mutations and treated them naturally. The details of one case in particular showed how ignorant naturopaths can be about the scientific plausibility of their methods.


In 2009, Skowron appeared on an episode of Animal Planet to discuss how he cured a mitochondrial disorder in a young girl named Kaylyn, using naturopathy. In the video, Kaylyn’s mom expresses that she thought Kaylyn would die. Mom got Kaylyn a dog, and then looked to Skowron for help, who implemented a natural treatment plan that included the dog.

Kaylyn’s mom said that within days, it was as if her daughter had been “reborn.” But her cure was short-lived.

In the webinar today, Skowron explained that after that episode aired, Kaylyn had a “relapse” that required extensive testing. This led Skowron to diagnose Kaylyn with a serious genetic disorder called Fabry disease.

Fabry disease is an X-linked lysosomal storage disorder. Lysosomes are cellular compartments that contain enzymes that degrade molecules. In Fabry disease, a mutated copy of the GLA gene impedes the enzyme alpha-galactosidase A from breaking down a molecule called globotriaosylceramide. The excessive build-up in lysosomes causes patients to have kidney disease, eye problems, deafness, gastrointestinal issues, and a host of other severe symptoms. The disease can be life-threatening if untreated.

fabryl disease

Fabry disease progresses throughout life with tragic consequences.

Patients with Fabry disease are treated with enzyme replacement therapy—an intravenous infusion of the alpha-galactosidase A enzyme. The therapy is expensive; it costs about $200,000 per year in the United States.

When Skowron briefly ran listeners through the story of Kaylyn and Fabry disease, a few things stuck out. First, he mentioned that the medical and genetic experts involved in Kaylyn’s case disagreed with his diagnosis. He decided to treat her “naturopathically” anyway. Second, Skowron grossly overstated the price of enzyme replacement therapy, saying it costs patients $200,000 per month. Lastly, he mischaracterized the presentation of Fabry disease in girls, whom scientists now know can suffer from the disease even if carrying one defective copy of the gene. While Skowron claims to know better than the experts, he has already gotten so much wrong. And it gets worse.

For Kaylyn, he prescribed the over-the-counter anti-gas supplement Beano, which he calls an affordable and ingenious treatment that has reduced her symptoms and helped her lead a healthy life.

Beano products contain alpha-galactosidase, the same enzyme that does not function properly in Fabry disease. Beano is not a drug. As far as I can tell, it is not used to treat Fabry disease. I looked. Perhaps I was unable to find anything because using Beano to treat Fabry disease makes no sense.

For Beano to work as enzyme replacement therapy, the alpha-galactosidase would have to survive digestion, and then pass into the bloodstream through the gastrointestinal tract at a high enough rate to populate lysosomes and breakdown the excess globotriaosylceramide. It it just not feasible that oral alpha-galactosidase could substitute for intravenous enzyme replacement therapy.

I studied Fabry disease last year in my Master’s program and also took a genetics course. But I never studied Fabry disease or genetics in naturopathic school at Bastyr. And I was never taught how to interpret genetic testing. Neither was Skowron.

I asked him in this webinar how he received his training in genetics. He responded that he “followed somebody who was in the know.”

I asked for the name of this expert, but the webinar mediator declined to ask Skowron my question. Skowron then went on to say this about learning genetics as a naturopath:

By ordering these tests on patients and having other experienced doctors interpret this stuff, we learn by watching.

Watching someone interpret complicated genetic test results does not count as receiving expert training in the field of medical genetics. But what can I expect from a guy who thinks an over-the-counter anti-gas pill is a substitute for enzyme replacement therapy that must be delivered intravenously? If any of Skowron’s patients really do have Fabryl disease and are not being treated with the standard of care, then they are risking their lives.

Skowron has already appeared on television inaccurately describe issues with MTHFR mutations. It is clear that he is not an expert in genetics or medicine. His treatments are misleading and could be dangerous for his patients. I am especially troubled because he brands himself as a naturopathic pediatrician who was also a co-founder the Pediatric Association of Naturopathic Physicians. He also endlessly promotes himself on NBC in Connecticut.

Children do not deserve to be treated by charlatans. This is yet another example of why naturopaths should be banned from treating children.

Image credit: Micah Baldwin. Some rights reserved.
This entry was posted in Bastyr University, Ethics, Patient Harm, Pediatrics, Standards of Care. Bookmark the permalink.
  • Thomas Mohr

    A few comments. First, I would not underestimate self-teaching, as a scientist this is what you do all your life. However, in order to be able to learn by yourself, you have to have a solid foundation which is laid during the university years. This is what I doubt with Mr. Skowron. The “medication” shows that Mr. Skowron does not understand how the gut works. There are some data that enzymes may pass the the small intestine barrier intact and functional, but the amount is extremely small, definitely not within the therapeutic range needed in this case.

    Second, interpreting the result of genotyping of the GLA gene for diagnostic purposes is pretty straightforward and can even be done by a computer. You get the gene sequence as a result from the sequencing guys and compare the nucleotide sequence with the canonical sequence for instance given by hg19. Then you look for deletions or missense or nonsense mutations that are pathogenic and that’s it. This can be done even in Excel. It would be interesting which genetic test has been done (if any) and what the medical experts had to say. Fabry is rare and commonly misdiagnosed, therfore – give the fact he has NO residency training – I doubt that Mr. Skowron has ever seen a child with Fabry’s syndrome.

    • http://www.naturopathicdiaries.com Britt Hermes

      Self-study: This is a good point to make. I agree.

      Yes, you are right about the test results. But as naturopathic students, we are not introduced to any of this. I had no idea what an SNP was or how to evaluate a sequence. I guess he could have watched a youtube video teaching him how to assess the results. Or perhaps he was given a print out with information about the sequence. I suspect that Skowron clinically diagnosed the patient by trying to match her symptoms to various genetic diseases described in the literature. How Skowron came up with using Beano as a natural enzyme replacement therapy is mind-boggling. Based on what Skowron stated in the webinar yesterday, the patient has totally been misled. The webinar was recorded. I will hopefully get a link to it.

    • http://www.naturopathicdiaries.com Britt Hermes

      Self-study: This is a good point to make. I agree.

      Yes, you are right about the test results. But as naturopathic students, we are not introduced to any of this. I had no idea what an SNP was or how to evaluate a sequence. I guess he could have watched a youtube video teaching him how to assess the results. Or perhaps he was given a print out with information about the sequence. I suspect that Skowron clinically diagnosed the patient by trying to match her symptoms to various genetic diseases described in the literature. How Skowron came up with using Beano as a natural enzyme replacement therapy is mind-boggling. Based on what Skowron stated in the webinar yesterday, the patient has totally been misled. The webinar was recorded. I will hopefully get a link to it.

      • Thomas Mohr

        If you get one, post it. I am especially interested in

        (a) his description of Fabry,
        (b) the way he diagnosed it and
        (c) what the real doctors had to say.

        If the whole thing is not confirmed by genotyping the entire diagnosis is questionable.

        As I said, assessment of genotyping results isn’t rocket science, but I suspect that it was not done or it was based on a nonpathologic SNP – possibly located in an intron. Pathologic mutations are very robust diagnostic criteria. I doubt the real doctors would have disagreed with him if such a mutation would have been identified.

      • Thomas Mohr

        If you get one, post it. I am especially interested in

        (a) his description of Fabry,
        (b) the way he diagnosed it and
        (c) what the real doctors had to say.

        If the whole thing is not confirmed by genotyping the entire diagnosis is questionable.

        As I said, assessment of genotyping results isn’t rocket science, but I suspect that it was not done or it was based on a nonpathologic SNP – possibly located in an intron. Pathologic mutations are very robust diagnostic criteria. I doubt the real doctors would have disagreed with him if such a mutation would have been identified.

      • Thomas Mohr

        BTW, according to the original webinar website we should be able to follow the fun within a week or so under “past webinars”

    • EBMOD

      ” First, I would not underestimate self-teaching, as a scientist this is what you do all your life. ”

      The problem is not auto-didacticism in and of itself, it is that he is using a child as a guinea pig. Proper training is necessary to skip over the mistakes of the past and get caught up to the current standard of care for a disease.

      It is highly unethical to risk making common mistakes that have already been sussed out and eliminated by scientific study and the knowledge/experience of the physicians who came before.

      As you noted, diagnosis is hard. When you rely only on yourself, the ignorance of arrogance commonly prevents one from knowing they are wrong…

      • Thomas Mohr

        I do not think he is using this kid as a guinea pig. That would require that he knows what he does. I think his approach is proof to a fundamental no-understanding of physiology, pharmacology and everything connected to medicine especially to fabry#s disease. We are not dealing here with the resident naturopat h of Last Gulp Junction but with one of the founders of Pediatric Association of Naturopathic Physicians.This case is probably the best argument to bar naturopaths from treating children.

  • Thomas Mohr

    A few comments. First, I would not underestimate self-teaching, as a scientist this is what you do all your life. However, in order to be able to learn by yourself, you have to have a solid foundation which is laid during the university years. This is what I doubt with Mr. Skowron. The “medication” shows that Mr. Skowron does not understand how the gut works. There are some data that enzymes may pass the the small intestine barrier intact and functional, but the amount is extremely small, definitely not within the therapeutic range needed in this case.

    Second, interpreting the result of genotyping of the GLA gene for diagnostic purposes is pretty straightforward and can even be done by a computer. You get the gene sequence as a result from the sequencing guys and compare the nucleotide sequence with the canonical sequence for instance given by hg19. Then you look for deletions or missense or nonsense mutations that are pathogenic and that’s it. This can be done even in Excel. It would be interesting which genetic test has been done (if any) and what the medical experts had to say. Fabry is rare and commonly misdiagnosed, therfore – give the fact he has NO residency training – I doubt that Mr. Skowron has ever seen a child with Fabry’s syndrome.

  • David

    When i was doing my paediatric ophthalmology rotation we used to see children with suspected Fabrys as they get corneal verticillata. It is laughable to think of a naturopath having the ability to diagnose Fabrys

  • David

    When i was doing my paediatric ophthalmology rotation we used to see children with suspected Fabrys as they get corneal verticillata. It is laughable to think of a naturopath having the ability to diagnose Fabrys

  • Bill

    You’re just so smart.

  • Bill

    You’re just so smart.

  • Ieva Zagante

    This disease has recently become popular in my country because the number of physicians that are able to suspect it is rising and the government, of course, is not enthusiastic about this fact (we have state-financed healthcare that finances about the half of the budget, long waiting lists and population majority of which cannot afford any insurance). And we have naturopaths. Not many of them and they are still private, however, as soon as they will catch on, any patient of Fabrt disease over 18 that has no chance to gather enough donations for enzyme replacement is likely to end in the naturopath’s office.

  • Ieva Zagante

    This disease has recently become popular in my country because the number of physicians that are able to suspect it is rising and the government, of course, is not enthusiastic about this fact (we have state-financed healthcare that finances about the half of the budget, long waiting lists and population majority of which cannot afford any insurance). And we have naturopaths. Not many of them and they are still private, however, as soon as they will catch on, any patient of Fabrt disease over 18 that has no chance to gather enough donations for enzyme replacement is likely to end in the naturopath’s office.

  • Missylulu

    Hi Britt,
    I really enjoy your blog and find it incredibly informative. Also, you are very brave! I’m always shocked by the number of people on here attacking you. I have a question that is a bit off topic, although maybe still kind of related to the subject of this post. It is about ND training/school (which I know you have written extensively about, and the answer to my question may be implied in your other writings but I can’t seem to find an explicit one). So, to be admitted into ND school, it seems that there is no entrance exam or minimum GPA. Does this mean that incoming students have not taken things like organic chemistry, biology, genetics, physics, anatomy, so on and so forth? It seems that in order to get into med school, it is expected that you have already taken these courses, or have working knowledge of the subjects through independent study, which can be verified through a standardized test. While I am not the biggest fan of standardized testing, in this situation it seems like it would be a useful tool for ensuring that everyone is on the same page when they start school. If a student entering ND school has never taken basic physics, biology, or chemistry, how are they able to survive their coursework in biochemistry? Are the students mostly from science or non-science backgrounds? This makes me doubt the rigor of even the more legitimate-sounding courses in the ND curriculum, but I could be getting the wrong impression.

    Thanks for all of your hard work!

    • http://www.naturopathicdiaries.com Britt Hermes

      Hi Missylulu
      When I attended Bastyr there was no minimum GPA. No graduate school entrance exams were required (GRE, MCAT.) There may be min GPA requirements now. Organic chemistry was required, but I took this course at Bastyr in the summer before ND school started. There was no lab work. I also took physics as a pre-req at Bastyr. The course was a joke. I don’t remember other course requirements. I had not taken anatomy or physiology. Students come from a diverse mix of backgrounds. I am not sure what percentage came from science fields.

    • http://www.naturopathicdiaries.com Britt Hermes

      Hi Missylulu
      When I attended Bastyr there was no minimum GPA. No graduate school entrance exams were required (GRE, MCAT.) There may be min GPA requirements now. Organic chemistry was required, but I took this course at Bastyr in the summer before ND school started. There was no lab work. I also took physics as a pre-req at Bastyr. The course was a joke. I don’t remember other course requirements. I had not taken anatomy or physiology. Students come from a diverse mix of backgrounds. I am not sure what percentage came from science fields.

      • Thomas Mohr

        In Austria the things works as follows. After highschool, students take an admission test (10% pass rate). By the time ND students enter naturopathic university, Austrian students have already finished anatomy, physiology, biochemistry and histology. Some are already volunteering in a laboratory.

        In one sentence: Naturopathic education is education taught at a university with an abysmal academic record to students who are lesser prepared than in medschool.

        • Sam Sense

          Yes Thomas, what a joke. As a medical doctor myself, I cannot BELIEVE the audacity of these folks to refer to themselves doctors. They are the FIRST of the FIRST to say I am “Doctor” XYZ… you’re not a doctor, give me a break.

        • Sam Sense

          Yes Thomas, what a joke. As a medical doctor myself, I cannot BELIEVE the audacity of these folks to refer to themselves doctors. They are the FIRST of the FIRST to say I am “Doctor” XYZ… you’re not a doctor, give me a break.

        • Sam Sense

          Also, minimum GPA is 2.5 at some of these places; are you kidding me? That is not acceptable for a potential “doctor”

        • Sam Sense

          Also, minimum GPA is 2.5 at some of these places; are you kidding me? That is not acceptable for a potential “doctor”

  • Missylulu

    Hi Britt,
    I really enjoy your blog and find it incredibly informative. Also, you are very brave! I’m always shocked by the number of people on here attacking you. I have a question that is a bit off topic, although maybe still kind of related to the subject of this post. It is about ND training/school (which I know you have written extensively about, and the answer to my question may be implied in your other writings but I can’t seem to find an explicit one). So, to be admitted into ND school, it seems that there is no entrance exam or minimum GPA. Does this mean that incoming students have not taken things like organic chemistry, biology, genetics, physics, anatomy, so on and so forth? It seems that in order to get into med school, it is expected that you have already taken these courses, or have working knowledge of the subjects through independent study, which can be verified through a standardized test. While I am not the biggest fan of standardized testing, in this situation it seems like it would be a useful tool for ensuring that everyone is on the same page when they start school. If a student entering ND school has never taken basic physics, biology, or chemistry, how are they able to survive their coursework in biochemistry? Are the students mostly from science or non-science backgrounds? This makes me doubt the rigor of even the more legitimate-sounding courses in the ND curriculum, but I could be getting the wrong impression.

    Thanks for all of your hard work!

  • Sam Sense

    I grew up in the area where Mr. Skowron “practices” his voodoo. I am trying to alert the public of this quackery as I would hate to see family and friends end up in the hands of this sad, sad man. Using “autistic kids” to make $ from his baseless voodoo is disgusting. He should be ashamed and imprisoned.

  • Sam Sense

    I grew up in the area where Mr. Skowron “practices” his voodoo. I am trying to alert the public of this quackery as I would hate to see family and friends end up in the hands of this sad, sad man. Using “autistic kids” to make $ from his baseless voodoo is disgusting. He should be ashamed and imprisoned.

  • Thomas Mohr

    I just watched parts of another webinar named “Practice Pearls of Wisdom from an ND Elder: Keeping the Nature in Naturopathic Practice” and I am shocked. A short overview over the therapeutic order in naturopathy:

    Establish the foundation of optimal health -> Stimulate self healing mechanisms (the vis) -> support weakened systems -> address physical ailment -> natural symptom control -> synthetic symptom relief -> high force intervention.

    How drastically this differs from the therapeutic order in medicine:

    diagnose what’s wrong -> chose the treatment with the best risk/benefit ratio -> control potential side effects.

    The therapeutic order in naturopathy addresses physical ailments in step three, relies on a force that is basically a fairy tale and prefers philosophically based treatments over treatments that work. This is how medicine worked in the 16th century.

  • Thomas Mohr

    The webinar ist still not online,despite their claims webinars would be online within a week Ii.e. 7 days). It is 2 days overdue. One has to ask why .

    • http://www.naturopathicdiaries.com Britt Hermes

      Now I regret not recording the session!