More accurately, this post is an introduction to functional medicine through the lens of our family’s story. If you don’t know what functional medicine is, as I didn’t until a few years ago, I will introduce it by describing the process that led us to work with a functional medicine doctor and the benefits we’ve experienced as a result.

The backdrop 

Followers of Gray Colored Glasses know that our son, Isaac, lives with two diagnoses: a rare XY chromosome disorder estimated at 1 in 100,000 live births (by comparison, Down syndrome is 1 in 700) and a little-known though not so rare immune system disorder called PANS, Pediatric Acute-Onset Neuropsychiatric Syndrome. Although many doctors are not experienced in diagnosing and treating PANS, it impacts around 1 in 200 children and youth. 

We had medical concerns from the time Isaac was born at four pounds, ten ounces, full term. From how tiny he was, not even registering on growth charts, to developmental delays that were apparent from five to six months of age, to frequent illnesses, speech delays, recurring ear infections, smaller diagnoses like cough-variant asthma and ichthyosis (a severely dry skin condition), and serious upper respiratory infections resulting in pneumonia and hospitalization, there was always something medical needing our attention.

At some point, we wanted to know the why. Why was he sick all the time, and what, if anything, could we do to help create better health? Maybe I was naive, but I thought this is what medicine was supposed to do.

When Isaac was four and his behavior became severe and erratic—what we now recognize as the onset of PANS—we entered a whole new dimension of mental health concerns. By age six, after two full years of doing everything we could to treat symptoms without medication, we finally saw a psychiatrist and began treating Isaac for ADHD and anxiety. The medication helped, no doubt, but there were two lingering concerns: 1) We were just treating symptoms. If we removed the medication, our child still had the same medical problems. And 2) Each of the medications had undesirable, even frightening side effects. 

After a year and a half, we started seeing a new psychiatrist closer in proximity to Isaac’s school. Ultimately, we pulled Isaac off psychotropic meds entirely and opted for a fish-oil based prescription called Vayarin. At seven or eight years old, Isaac took an adult dose (Vayarin Plus). It didn’t have the same dramatic effects as the other meds but neither did it have the side effects. It was a compromise we felt was best for our son and our family. 

Stepping stones

I no longer remember the exact order of the next few events, but somewhere around this time, a number of things happened: 1) We changed our diet, 2) We learned about the MTHFR gene, and 3) We were introduced to functional medicine.

1) Isaac started seeing a holistic physical therapist who recommended we change our diet, first to gluten free and then to the GAPS protocol. (See previous post, How Changing Our Food Changed Our Life.) She didn’t use the language, but in hindsight, this was our first venture into the arena of functional medicine. 

2) At some point, our new psychiatrist wanted to consider another medication but said it was not recommended if Isaac had the MTHFR gene mutation, which I happened to know at least two of my relatives had. The psychiatrist didn’t see a reason to test Isaac for it unless I tested positive for it, so we decided to see if I had the gene. Turns out I have a double mutation. (If you’re thinking MTHFR looks like a curse word, I agree, and that’s exactly how I think of it.)  

When you mention MTHFR to most any medical doctor, they will tell you it carries significant risk factors for blood clotting and that women of a certain age should not take hormones to address symptoms of menopause. That’s the extent of it. But a quick online search will tell you that MTHFR gene mutations have been linked to a host of other health conditions, such as depression and fatigue, and that there is far more research to be done. So of course, I began to wonder if this could lead us to some new answers and avenues for treatment we were desperate to find. (Spoiler alert: there is still no definitive answer to this question.)

3) I’ve stayed loosely in touch with a mom whose son shares Isaac’s rare genetic variant, and after a long period since our last conversation, I asked her about interventions they had tried for their son. They had seen a functional medicine doctor near their home in Florida and recommended we find one in Houston. She told me that every member of their family of four has some mutation of the MTHFR gene (!) and that their functional medicine doctor suspects that is how they got their son with his rare XY chromosome variant. (The cause of our boys’ genetic variation remains a mystery to science, so this potential connection is very compelling.) Their doctor noted that all of his patients who have autism also have MTHFR, and treating them has improved and/or reversed symptoms. Needless to say, I was motivated to find out more. 

Obstacles and opportunity

The challenge, of course, is that most traditional Western medicine practices have little knowledge of many genetic anomalies (like MTHFR) and little interest in learning more. Which points to a broader issue for patients with complex medical backgrounds: Until certain genetic connections become common knowledge and treatments become standard practice, there is little hope of finding a medical doctor who will partner with you in finding answers to your questions. 

I understand the need to rely on tried and true, evidence-based medicine to treat patients and the traditional model of the doctor having answers to the patient’s questions. I also know that an entire childhood can pass before your eyes with very little help and progress if you don’t take a more active role in your child’s health and wellness. The entire genome of the human body was only discovered about 15 years ago, as my mom friend reminded me. Medicine is not fixed. There’s a reason we call it a practice. We stand to learn so much more in this and future generations … only some of us can’t afford to wait.

So what is functional medicine? 

According to the Institute for Functional Medicine (IFM), “Functional medicine is a systems biology-based approach that focuses on identifying and addressing the root cause of disease. Each symptom of differential diagnosis may be one of many contributing to an individual’s illness.”  

For me, it’s easier to explain through a brief scenario:

When we took Isaac to the doctor as a young child, if he had an ear infection, she would prescribe antibiotics to treat the infection. If he had an upper respiratory infection, we would treat with antibiotics and steroid inhalers or breathing treatments. When he had cracked, dry skin, we would treat with medicated ointment. You get the picture. These were important interventions to treat the symptoms he was having. This is the Western medicine model in a nutshell. Have symptoms? Treat with medication. (We still do this, by the way, and we love our internal medicine doctor.)

The primary shift from Western medicine to functional medicine is from treating illness to discovering underlying causes. I remember feeling overwhelmed at how frequently we visited the doctor, how often Isaac was sick and on medication to get better. At some point, we wanted to know the why. Why was he sick all the time, and what, if anything, could we do to help create better health? Maybe I was naive, but I thought this is what medicine was supposed to do. (I’m no expert on the matter, but now, when I hear people casually mention that our medical system in the US is broken, I think not just about accessibility and insurance but about how our system is really set up around disease, not health.) 

The best doctors understand that you have to be an active participant in your own (or your child’s) medical care.

From the outset, our functional medicine doctor listened to our long and winding story about Isaac’s medical history and did bloodwork to explore environmental factors and genetics. After the initial round of findings and interventions–and another flare, which offered further information–we did more specific tests for antibodies, which helped to confirm the PANS diagnosis, and also for tick-borne illnesses, which indicated the presence of Lyme and Bartonella.

It was a LOT, but all of the bloodwork helped us to understand the underlying causes of Isaac’s challenges and what we needed to address in order to create a healthier ecosystem in his body. The goal was not just to treat this or that problem but to bring about more systemic health and less illness overall. In Isaac’s case, it still required significant medical intervention in the form of IVIG and antibiotics in addition to a focus on gut health and various supplement protocols. And while we hope for further improvement still in his PANS symptoms in particular (rage, opposition, and OCD), Isaac’s overall health has improved by leaps and bounds in the four years since we started working with a functional medicine doctor. We’ve gone from practically having a room with our name on it at our internal medicine doctor’s office to seeing her about twice per year. It is truly remarkable.

A few words of advice

My husband is a physician, a robotic surgeon, trained in reputable Western medicine institutions. In no way do I advocate abandoning Western medicine altogether; in fact, I would say we are highly reliant upon it for our entire family, including Isaac. Hopefully I have made that clear. Having a child with rare and little-known disorders, however, does expose the limitations and pitfalls in our current Western medicine system. Many of Isaac’s diagnoses and treatments have only been uncovered through the intervention of a functional medicine doctor. 

Not all functional medicine practitioners are created equal. It is up to you as the patient to research their credentials.

There are a variety of names for functional medicine (like holistic medicine and alternative medicine), and not all functional medicine doctors are created equal. People without medical degrees can call themselves functional medicine doctors/practitioners, and it is up to you as the patient to research their credentials. Because of Isaac’s complex medical makeup, it was important to us to find a functional medicine doctor who is also a medical doctor (MD). Using the “Find a Practitioner” search through the Institute for Functional Medicine, we found a certified functional medicine doctor who is also a board certified pediatrician. 

There are some down sides. Occasionally we find ourselves at odds with something our functional medicine doctor is recommending, but that’s almost inevitable when you’re taking this active of a role in caring for your family member. The bigger down side is cost. Most functional medicine practitioners do not accept medical insurance, and the process can become very expensive very quickly. We’ve had to put our money where our values are, on the health of our child. Already we were paying for tons of doctor visits. Now most of them are also, in some way, preventative, which does help ease the financial hit. In our case, the positives definitely outweigh the negatives. 

A good Western medicine doctor will recognize that there is value in pursuing this additional path, a different approach to healthcare that is outside their purview. Many appreciate the significance of diet, exercise, sleep, and stress reduction—all central components of a functional medicine approach—and will admit that these are not a significant part of their training or expertise. The best doctors understand that you have to be an active participant in your own medical care. If yours does not, I recommend finding someone who does. 

There was an earlier time on this path when I told friends I wished we didn’t have to eat gluten free (or some similar complaint). And while this is certainly not a path I would have chosen, I can look back now on eight years of changing the way we eat and four years of working with a functional medicine doctor and honestly say that I am grateful for what this health journey has done for all of us, not just Isaac. It hasn’t been easy, but it wasn’t easy where we started, either. And we have arrived in a much better place.