Functional Medicine Works for the Long Haul: An Update on TL, a 2.5-Year-Old Boy with Autism
One of the hurdles we are actively jumping in FxMed is publishing case reports. Case reports are the first leg in validating an approach, and more are always needed. While I think we’re doing a pretty good job in this arena, we are lacking in case reports with long-term outcome, including the 2011 book I authored with Andy Bralley, PhD, Case Studies in Integrative and Functional Medicine (CSIFM). Dr. Tom Sult, however, did include long term outcomes in his book, Just Be Well. [Somewhat tangentially, epic movement is happening at the Cleveland Clinic’s Center for Functional Medicine with regard to researching the FxMed approach. Stay tuned!]
We see marvelous turn-around in our patients daily, and our charts are goldmines waiting to be mined (both successes and failures). But what an onerous, if not impossible, task for the busy clinician! I appreciate those who step up to the plate on this, and folks such as Dr. David Riley are working away at making the case report structure much more do-able, consistent and streamlined.
On that note, this month’s blog is an update on a superb case report—one that was published in CSIFM and on which I recently obtained long-term follow up, thanks to a rather lovely and unexpected reconnection.
If you’ve seen CSIFM, or have heard me present on autism, you might recall the case of TL (CSIFM pg. 47). TL’s parents brought him to see Dr. Mark Hyman when he was 2.5 years old, after being diagnosed with regressive pervasive developmental disorder- not otherwise specified (PDD-NOS). PDD-NOS falls into the autistic spectrum of disorders (ASD).
TL had been developing normally, hitting all of his milestones, and had a 20-word vocabulary. He was happy and responsive. His parents reported that regression started shortly after getting the MMR vaccine. Rather rapidly, TL became irritable, developed profound sensory and self-stimulatory issues; his bowel movements became irregular, he was unable to maintain eye contact and became aphasic.
After a comprehensive battery of neuropsychiatric testing, TL received the diagnosis of PDD-NOS and was prescribed full-time special education, with speech and occupational therapies. [TL’s Childhood Autism Rating Scale was 32– consistent with PDD-NOS. Refer to CSIFM for the full list of testing and a detailed, referenced discussion.]
I am presenting TL’s history below in the IFM Matrix format. If you are not familiar with the Matrix structure, please read this useful primer on the FxMed approach.
Note that any single factor (or even multiple factors) doesn’t automatically result in autism, of course. But the weight of the collective environmental exposures filtered through TL’s genetics resulted in the development of PDD. Carefully unraveling TL’s history, broad laboratory investigations, and individualized therapy resulted in full resolution of ASD.
Antecedent factors predisposing TL to PDD-NOS included:
• Toxic exposures. It was determine that TL’s mother was eating much mercury-containing tuna during her pregnancy with TL. Additionally, lead paint was discovered in the home.
• Emergency C-section at 36 weeks due to placenta abruption (maternal system stress, stress of premature birth, lost opportunity for healthy microbiome cultivation)
• Colic with breast feeding, dairy intolerance (points to immune imbalance/food reactivity, intestinal hyperpermeability, dysbiosis)
• Month-long stomach virus with diarrhea and vomiting (think nutrient loss, microbiome disruption)
• Full vaccine schedule, was reportedly irritable after receiving all vaccines per administration (additional toxin load, immune stress)
• Pertinent negative findings: Parents reported no family history of autism, autoimmunity or allergic disease.
Triggering factor precipitating ASD
As TL’s parents reported, regression began shortly after the MMR vaccine. Obviously, this notion has received endless kickback from the CDC and other professional and governmental organizations globally. And we all know that Dr. Andrew Wakefield was roundly criticized and ostracized from the professional medical community for his findings regarding the MMR/ASD association. That said, if you are a clinician “in the trenches” treating individuals with autism, you do indeed encounter parents who state unequivocally that regression started after receiving MMR.
Mediating factors allowing for propagation of ASD
Factors that allow for the continuation of PDD in TL basically include (but are not limited to) continued exposure to antigenic foods, nutrient insufficiencies left uncorrected, an imbalanced gut microbiome and an untreated toxic burden.
A basic timeline of events leading to the development of ASD: Suspected genetic weaknesses predisposing to ASD. In utero exposure to mercury, possibly lead. In utero exposure to foods later identified as antigenic. C-section delivery (limited exposure to mom’s microflora). Colic, dairy intolerance. Reported irritability after vaccinations. A severe viral illness resulting in likely nutrient insufficiencies. MMR at 2 years old, followed by regressive PDD-NOS.
Mark ordered a broad battery of tests to identify any underlying imbalance that may have influenced the course of TL’s ASD. Tests looked for nutrient insufficiencies, oxidative stress, infection, GI microbiome, food allergy/sensitivities, celiac disease and toxins. Genetic SNP testing and standard chemistries were also obtained.
Mapping TL’s case to the IFM Matrix.
Figure 1. Baseline assessment and lab tests ordered. Only those Matrix nodes most significant to TL’s case are included (Assimilation, Defense and Repair, Biotransformation and Elimination, Energy). The left-hand column includes Mark’s baseline assessment; the right column includes the tests he’s ordered to evaluate the suspected issues. Since PDD etiology is multifactorial, it is featured in multiple nodes.
Figure 2: Post-test updated assessment, significant laboratory findings and initial treatments. I know, there is a lot of information in the above table, and for those not familiar with the particular analytes measured, it may be confusing. The easiest way to review this table if you are not familiar with the various tests is to note the refinement of the Matrix assessments based on lab testing, and the treatments initiated to address the various findings. I encourage readers interested in learning more about these specialty tests to check out the textbook Laboratory Evaluations in Integrative and Functional Medicine. You will also find an abbreviated discussion on these laboratory data in TL’s case in CSIFM.
It’s interesting to note that hair mercury was normal in TL, which at a glance is unexpected considering there was strong suspicion of in utero exposure. It has been previously observed, however, that hair mercury may be lower in ASD children than age & gender- matched controls, suggesting that detoxification of mercury is problematic in this population.
Having the laboratory data in hand and the newly updated assessment, we can refine the likely antecedents, triggers and mediators:
• Genetic SNPs in detoxification and biotransformation
• Methylation impairment
• Multiple nutrient deficiencies (minerals, B12)
• Gluten enteropathy (elevated IgG antigliadin antibodies)
• Toxic metal body burden (likely poor elimination due to SNPs & mineral deficiencies)
o Oxidative stress
o Elevated lactate
o Imbalanced urinary Kreb cycle intermediates
TL’s initial plan included avoidance of gluten- and dairy-containing foods, minimize IgG-positive food exposures, as well as gastrointestinal, anti-yeast and nutrient support (page 54 in CSIFM).TL’s first follow-up visit after two months of treatment was profound: language, eye contact, energy, GI function and self-stimulatory behaviors all improved. Bowel movements were still irregular, and skin rashes were present. Additional treatments for yeast and detoxification were added at this time, and a urine toxic metals challenge protocol was scheduled.
At four month follow-up: TL’s bowel movements were reported as normalized. Potty training was initiated. Urine toxic metals showed very high mercury, which was anticipated. Detoxification was continued. Additional laboratory tests were ordered, including organic acids, which demonstrated improvement in oxidative stress and mitochondrial function, but methylmalonic acid (a surrogate B12 marker) was higher than at baseline, indicating a functional deficiency. Subcutaneous B12 injections were ordered.
At 7 month follow-up: TL’s improvements were so profound, his therapists were re-evaluating his diagnosis.
A Note from TL’s father, received 05-26-16
TL lived in New York City from the age of 2 to the age of 7 where he attended several special needs schools, received 20-25 hours per week of one-to-one therapy (speech, occupational, ABA, floortime), and all the while continued with functional medicine testing and dietary and biomedical interventions. At one point, he was taking 18 supplements per day, no small feat for a child who was a picky eater to begin with. My wife took a 6 month leave of absence from her job to oversee TL’s “program” of recovery, and then I did the same. TL’s rapid improvement was encouraging and showed us that the steps we were taking were working, and I ended up extending my leave indefinitely.
By first grade, TL was showing few (if any) signs of his autistic diagnosis, and our family moved to the shoreline of Connecticut where we enrolled TL in the local public first grade, not even telling the school about his medical past. By the time the school noticed his ASD diagnosis on his health records two or three months into the year, TL was already doing so well that his medical past was more of a curiosity than a concern.
TL continues to thrive and is now in 5th grade where he has lots of friends, gets near perfect report cards, and plays point guard on the travel basketball team, his favorite sport. He shows absolutely no signs of his former diagnosis of autism.
As a father, I found TL’s recovery so rewarding that I never returned to my job in finance. Instead I enrolled in, and recently completed the coursework for, a Masters in Nutrition from a school (University of Bridgeport) that focuses on the same principles of functional medicine that helped my son recover from autism. My hope is that I can combine my experience as a parent and the knowledge I have gained as a student to help other families who find themselves in the same position we were in ten years ago: feeling overwhelmed by having a child diagnosed on the autistic spectrum.
When I explain TL’s recovery to people, I am often asked if the diet and supplements are what cured him. My answer is that they are only a part of a much broader solution, and dietary and biomedical interventions are much more effective when used in conjunction with the work of talented teachers, doctors, and therapists.
Functional Medicine for the Long Haul. It works.
CSIFM Case Study: Used by permission ©Genova Diagnostics
Functional medicine works by treating the individual with autism, not suppressing autistic symptoms. Thank you for this amazing case study on how to think as a doctor versus follow a protocol!
My younger brother has a issue of not getting fat. After so many attempt he is still around 40 KG in the age of 21. what can I do please suggest.
I would very strongly recommend he be seen by a good functional medicine doctor- he needs a full work-up. There are numerous potential causes for his condition. You can find functional medicine docs at http://www.functionalmedicine.org. Best of luck to him!