Traumatic Healing

“I thought I was the type of person who couldn’t handle pain,” Aliza says. “I didn’t really question my assumption until I had my first baby.” Dealing with the new experience of childbirth, her inability to experience pain relief took center stage. The most vulnerable moments of her life quickly became a confused scene of gaslighting and uncontrolled agony.

The epidural was as useless as her childhood Tylenol. She pressed the administration button frantically, desperately seeking the numbing comfort that should have come. It never did.

The medical team’s bewilderment quickly transformed into suspicion. How could someone require such massive amounts of pain medication?

“They thought I was an addict,” Aliza explains. “They told me I was reacting like someone who had developed a tolerance for drugs through ‘illicit use.’ They said there was no other logical explanation for my strange resistance to the medication.”

“Do you have a drug problem?” they kept asking Aliza.

The accusation was almost as bad as the pain. When she failed to progress and an emergency C-section became necessary, general anesthesia finally provided the relief that localized pain management couldn’t.

But then came the horrible part — the long recovery.

“Anyone who’s had a C-section knows that it’s standard to be on constant pain medication for the first couple of days at least,” says Aliza. “So that’s what they did for me.” But the standard pain medications offered her no reprieve.

As they changed shifts, nurses recorded her pain levels as a consistent ten out of ten, their skepticism growing with each report. How could someone experience such extreme pain while receiving the right medication?

“Do you think that the pain is only in her head?” she overheard her husband whispering to one of the doctors when they thought she was dozing. “Maybe it’s psychosomatic?”

It was a relief to finally leave the hospital, where Aliza felt branded as a liar and an addict.

With a baby who didn’t seem to understand the meaning of sleeping more than ten minutes at a stretch, Aliza was too busy transitioning to motherhood to dwell on the whole traumatic experience — until a year later, when her dentist informed her that her wisdom teeth were impacted, and she needed them removed.

The dental experience that followed proved equally harrowing. Local anesthesia worked during the surgery, but Aliza’s postoperative pain management failed spectacularly.

“I couldn’t handle it,” she admits. “It was excruciating. I finally called the dentist’s office, and I cried on the phone, begging for another medicine to take away the pain. But the secretary told me that Tylenol and Motrin were the only options available.”

“There’s nothing else we can give you,” they explained, leaving Aliza to endure days of a painful recovery with nothing to give her relief.

Breakthrough

The breakthrough came, ironically, through another failed medical intervention.

When Aliza had her second child, the epidural not only failed to provide pain relief — it also caused a severe spinal headache that left her unable to sit upright for days.

“I was going out of my mind with the pain, and I started to think that maybe I had a real problem,” says Aliza. “I decided to tell my OB.”

Her obstetrician, intrigued by Aliza’s pattern of medication resistance, shared the broad outlines of Aliza’s case with a colleague of hers who was a psychiatrist.

“I see that all the time,” the psychiatrist remarked casually. Mental health professionals, it turned out, encounter similar puzzles regularly — patients whose depression or anxiety medications simply don’t work even with proper dosing and compliance. “This happens in our practice a lot,” she explained. “Sometimes patients don’t respond to medication because there’s something in their genes that’s not working properly.”

The revelation was simultaneously simple and stunning. Aliza’s OB told her that eight key genes are responsible for metabolizing different medications in the human body. When these genes are mutated, doubled, or malformed, they can’t process medications effectively, and drugs never reach their intended destination.

“Your genes are like a highway,” the doctor explained to Aliza. “They’re supposed to take each medication and ensure it reaches the right place. But when your genes have ‘cracks’ in them — when there are roadblocks or dead ends — the medication can’t get where it needs to go.”

The psychiatrist said that the solution to figuring out whether this was Aliza’s issue was elegantly straightforward: a regulated, legitimate genetic test through companies like GeneSite. A cheek swab sent to a lab would yield results that could reveal exactly how Aliza’s unique genetic makeup affected her body’s ability to metabolize medication.

“It was incredibly simple,” says Aliza. “My OB ordered a swab kit, the company sent it straight to my house, and I did a quick cheek swab at home. Then I sent the results back to the company’s lab, and waited.”

Answers

When Aliza’s genetic test results arrived, they provided both vindication and revelation.

“Of the eight medication-metabolizing genes, most of mine don’t function properly. The results broke everything down — which genes were doubled and which carried mutations. None of them were able to process medications properly,” says Aliza.

The results explained everything: why opioid painkillers had no effect, why Tylenol never dulled the pain of her headaches, and why standard anesthesia protocols failed during medical procedures. Aliza’s genetic highway system was broken, full of roadblocks and detours that prevented medications from reaching their targets.

But the results also provided hope. By understanding which specific genes weren’t functioning properly, Aliza could finally identify medications that might work. She discovered that while Tylenol was completely ineffective for her genetic profile, Advil and naproxen could provide genuine relief. While Advil always triggered Aliza’s acid reflux, now she learned to take the Advil with another medication to settle the acid — and her pain eased.

“I felt so validated,” admits Aliza.

She now had scientific proof that her experiences were legitimate. Her pain tolerance wasn’t abnormally low — if anything, it was high, honed by years of enduring agony that none of her friends and family had ever had to face.

The Science

“It was a totally new reality,” Aliza says about the results of her gene test. “I could finally manage my pain. My doctors knew what to do. And I realized that medicine is not a one-size-fits-all, and that it can’t be.”

Her experience reflects a broader medical reality that affects millions of people worldwide. Pharmacogenetics, the study of how genetic differences influence drug responses, is revealing that medication effectiveness varies dramatically between individuals. What works for your friend or neighbor, or even a blood relative, won’t necessarily work for you.

The process happens mostly in the liver, which metabolizes most medications using enzymes created by our genes. Two particularly important enzyme families, CYP450 and CYP2D6, play crucial roles in drug metabolism.

Depending on genetic variations, people can be classified as poor metabolizers (breaking down medicine slowly and potentially experiencing more side effects), fast or ultra-rapid metabolizers (processing drugs too quickly for effectiveness), or normal metabolizers (processing medications as expected). If a friend complains about an epidural that never worked, or you experienced a severe reaction to an ordinary medication, genes might be the culprit.

“These genetic differences affect responses to medications that treat depression and anxiety, pain relief, high blood pressure, heart disease, and cancer. Even common over-the-counter medications, like ibuprofen or prescription antidepressants, can work dramatically differently depending on individual genetic profiles,” says Dr. M. Meyer, MD.

Some genetic variants can even create dangerous situations for patients. The HLA-B*15:02 gene variant increases a person’s risk of severe skin reactions from carbamazepine, often used to manage epilepsy and bipolar disorder, while HLA-B*58:01 can trigger serious reactions to allopurinol, which is prescribed to treat kidney stones. Mutations in the RYR1 gene are directly linked to malignant hyperthermia, a sudden, life-threatening spike in a person’s body temperature, which can happen when the victim inhales certain types of anesthesia.

These discoveries have prompted medical organizations to recommend genetic screening for at-risk patients before prescribing different medications. This can potentially prevent dangerous reactions and ineffective treatments.

A New Approach

Armed with her genetic results, Aliza completely changed her approach to her own healthcare.

“I began carrying my GeneSite test results to every medical appointment. When we talk about prescriptions, I tell my providers about my unique medication needs,” she says.

Recently, Aliza needed a small cyst removed from her neck. After the procedure, but before the nurse had a chance to prescribe any useless painkiller, she immediately presented her genetic profile to the dermatologist’s staff.

“Here are my genetic testing results,” she explained. “You need to prescribe pain medications that will actually work for my body.”

The medical team consulted her genetic data and prescribed Advil and naproxen, the two medications her test indicated would be effective. For the first time in Aliza’s adult life, post-procedural pain management worked.

The transformation extended beyond pain relief. Aliza discovered she could use AI tools, like ChatGPT, to quickly research medication effectiveness.

“I can type specific gene names and medication types into ChatGPT, and ask it to figure out whether a prescribed drug will work with my specific genetic limitations. It’s amazing!” Aliza says.

This personalized approach was a seismic shift from the one-size-fits-all model that had failed her for so long. With over 15,000 different medications available, and countless genetic variations affecting their effectiveness, individualized treatment plans are becoming the wave of the future.

Is It Covered?

Pharmacogenetic testing is very straightforward.

“Patients can discuss testing options with their doctors or pharmacists, and many insurance plans may cover the cost, especially for individuals who’ve experienced medication difficulties,” says Dr. Meyer.

But while “… many insurance plans may cover the cost” sounds hopeful, what does that actually mean in the murky world of coverage?

Without insurance, these tests can range from $200 to $1,000, depending on how many genes are tested. A basic test looking at one or two genes may cost a few hundred dollars. Broader panels, often used for psychiatric medications, fall on the higher end of the what-does-this-cost spectrum.

The good news? Many patients don’t end up paying full price. Some labs report that most patients pay less than $330 out of pocket after insurance. Still, coverage varies. Medicare will often cover tests for well-established gene/drug combinations. Private insurers, including UnitedHealthcare, have also started covering pharmacogenetic testing, particularly when prescribed for mental health medications.

To qualify for coverage, the test must usually be ordered by a doctor and tied to a specific medical need, like a patient who is having difficulty finding the right medication or experiencing strong side effects.

But the bottom line on how this affects your bottom line? Navigating insurance is never simple, but if a patient really needs it, their insurance plan will hopefully pay up.

The test itself is a lot simpler than contemplating insurance. It typically requires only a cheek swab, like Aliza’s, or a blood sample. Results are available within days, coming as a comprehensive report showing how each person processes medication.

“My general doctor told me that with all this genetic information, doctors can choose the right medications more quickly, avoid drugs that might not work, reduce side effect risks, and help people find the cures they need. He said that right now, medicine is a little bit of a trial-and-error process, because what works well for one patient can hurt another one,” says Aliza. The idea that pharmacology is comparable to throwing spaghetti at the wall — in any way, shape, or form — is hardly a reassuring thought. Pharmacogenetics sounds far more appealing.

But the benefits extend beyond individual care. Genetic testing can save healthcare systems a lot of money by reducing the number of ineffective prescriptions doctors dispense, and eliminating the costly process of “what should we do next?” for a baffling patient. And it goes far beyond painkillers. Pharmacogenetics can guide the choice of antidepressants, blood thinners like warfarin, cancer drugs, and medications for epilepsy and ADHD. With genetic information, prescriptions will be on target right away (including dosages), there will be fewer side effects, and no need for a merry-go-round of trying and discarding drug after drug in search of a cure.

Medical Passport

It’s personalized medicine, with a capital P.

Aliza’s journey from medical mystery to genetic go-to represents the beginning of a new attitude toward patient care. While some patients discover that even with results in hand, not every provider knows how to interpret or act on them — and that they may need to advocate strongly for themselves — this is slowly changing. Healthcare providers are starting to move away from the standard prescribing practices and toward individual treatment plans based on genetic profiles.

The Netherlands has gone so far as to create a medical DNA passport. This passport uses the results of pharmacogenetic testing, taking genetic clues and putting them in the hands of ordinary citizens — or rather, in a handy card or app. When doctors or pharmacists scan the QR code, they get personalized information that helps them choose the safest and most effective medications for each patient.

The idea came from Dutch medical researchers who realized that patients would benefit if this genetic information was easy to access when they were actually prescribed medication. They designed the passport to work seamlessly with national dosing guidelines. It’s already changing how medicine is practiced in the Netherlands, and as genetic testing becomes more common, this kind of personalized medicine could be coming  soon to a pharmacy near you.

Beyond Pain

The investment in understanding your genetic makeup can pay dividends throughout a lifetime of taking medication.

But for patients like Aliza, genetic testing offers something equally valuable: validation.

“For years, I was dismissed, questioned, and blamed for medication failures. I thought I was just a wimp. I almost doubted that I was really in pain, because everyone kept telling me it wasn’t possible! The test was the scientific proof that my experience was real. Pain is valid. Pain is legitimate. Pain is real. We need to remember that,” says Aliza.

Because sometimes the problem isn’t with the patient — it’s with a medical system that hasn’t yet caught up to the scientific understanding of how our individual genes are more than just hair and eye color. When treatments fail, the solution isn’t always to try harder or suffer in silence. Sometimes we need to look deeper, ask different questions, and demand answers that are outside the “well, this always works” box.

It’s a genetic revolution in medicine, but it’s still the beginning of so much that doctors and scientists don’t know. Patients like Aliza are paving the way for a more personalized, effective, and compassionate approach to healthcare for everyone. In the meantime, Aliza’s genetic highway may be full of roadblocks, but now she has a detailed map to navigate around them.

And for her, that makes all the difference.

Should you take a pharmacogenetic test?

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efore ordering a pharmacogenetic test from the nearest lab, it’s important to remember that while these tests are promising, not all conditions or medications are impacted by genetic factors. If you’re only on short-term, low-risk medication — or have never had adverse reactions — your doctor may not recommend testing at this time.

Still wondering if you’re a strong candidate for pharmacogenetic testing?

If you…

• Have unusual or severe drug side effects;
• Are on medications that are known to interact with genes (you can ask your doctor for more information about this);
• Have chronic or complex regimens of medication;
• Are a cancer patient undergoing chemotherapy;
• Have a family history of sensitivity to medication;

Then it might be a good idea to discuss the possibility of taking a test with your medical care provider.

(Originally featured in Family First, Issue 955)