Navigating Healthcare for the Special Needs Parent



I just love double meaning acronyms. My true feelings, I would say, are spot on for the way the subtitle reads. What the acronyms actually mean are: 5FU is a chemo agent 5-fluorouracil. MTHFR is methylenetetrahydrofolate reductase. SOC is the ever-beloved standard of care.

The way these all tie together is that when you have the MTHFR genetic defect or any other condition that affects the enzyme folate metabolism activity, such as hypothyroidism, that essentially means that your body is not going to process folic acid, which then leads to having children with special needs, psychiatric symptoms, and all the trickle-down effects of folate deficiency; including cancer, to name a few. I have glazed over MTHFR through my years of thyroid advocacy with the thought of if you can keep your thyroid levels where they need to be, it is less of an issue. I did learn in the work done by Dr. Christiansen and Dr. Lynch that when you are hypothyroid, your enzyme that processes folic acid doesn’t function optimally. Here is a link to their great work.

So, essentially, if you do address folate deficiency and not address hypothyroidism, are you still in the same boat? The role of MTHFR in special needs kids is high and being proposed as the turning point when a child becomes vaccine injured and develops autism. It hinders the body’s ability to detox.

The conventional use of large doses of folic acid (5 mg/day) has become obsolete. Regular doses of folic acid (100–200 μg) can be tolerated in the general population but should be abandoned in the presence of MTHFR mutations, as the biochemical/genetic background of the patient precludes a correct supply of 5-MTHF, the active compound. A physiological dose of 5-MTHF (800 μg) bypasses the MTHFR block and is suggested to be an effective treatment for these couples. Moreover, it avoids potential adverse effects of the UMFA syndrome, which is suspected of causing immune dysfunction and other adverse pathological effects such as cancer (especially colorectal and prostate).”

I have continued to think that thyroid is also a fuel to that fire. My main point kind of coming from pics parents would share of their babies before that dreaded vaccine that changed their world, and I see symptoms of hypothyroidism; puffy cheeks, depressed nasal bridge, enlarged tongue, and/or an eye that turns outward.

The SOC for newborn screening is lacking and our system for notifying docs of failing the newborn screening is lacking and too many babies are getting missed for that hypothyroid diagnosis at birth. It took me a process over four years to get my children’s newborn screening results from the State, and they were not released to me until the State’s legal counsel approved the release. Come to find out, my daughter was recommended for a second screening. After some tree shaking, I had procured her diagnosis on my own through her cardiologist that she was, in fact, hypothyroid at three months of age. She was not diagnosed with Down syndrome until the age of two months. My pediatrician at that time was very lax on everything. I first learned she had a heart murmur from a local iridologist who saw it in her eyes. When I learned of the high rate of heart defects in Down syndrome, I called and got her in to a pediatrician cardiologist. She had fluid around her heart which he said could be caused by the thyroid. I begged to test. This was more than my gut could reconcile. I had already approached her pediatrician about my concerns of symptoms of hypothyroidism. They were written off because those were the same markers for Down syndrome. I had read that untreated could lead to irreversible mental retardation. My pediatrician reassured me that she passed the newborn screening, and she was okay. When her labs did show she was hypothyroid by an elevated TSH, this same pediatrician also wanted to wait four months to treat for when the visiting endocrinologist came to town. I was not cool with that, so I switched pediatricians and procured treatment for her right away.

I guess my point for trailing off is that these standards of care had already led me to feel a lack of confidence that the SOC that docs are under the obligation to practice under were nowhere in line with a happy and healthy baby.

My other experience with the standard of care comes from my court reporting days of sitting in a medical malpractice deposition and the opposing attorney asking the question of the doc, “Did you follow the standard of care?” Doc’s answer, “No.” Attorney, “Why not?” So the bottom line is that if the doctor does not follow the suboptimal standards, they subject themselves to a medical malpractice suit and possible licensure discipline. I do have an expectation, as I am sure we all do, that our doctors act prudently and responsibly. So does prudent mean not thinking on their own and stay within the shortcomings of SOC, or does it mean they will do their own thinking and look at the patient individually and make adjustments where needed? Interestingly, in the guidelines for newborn screening for hypothyroidism, there is a catch phrase that puts the onus on the physician that they should not forego their clinical judgment and that the testing could be inaccurate.

I had been feeling terrible for about a year. Stress levels out of this world. I got some labs. I had found it easier and cheaper to procure my own labs. I enjoyed the freedom of being able to get the labs I wanted without fighting with my doctors and causing discord because doctors can face disciplines for ordering tests outside of the SOC. I have found great healthcare with a naturopathic physician from a state that has prescribing privileges because they have different guidelines to follow which are more conducive to better health and well-being.

God had guided me to a panel of labs that included a homocysteine level. My homocysteine level was 36 µmol/L (optimal is 5-7 µmol/L)!! The upper end of the range was 15. My thyroid hormone levels were extremely high, yielding above 4 ng/dL for free T4 (optimal levels are 1.0-1.5) and over 7 pg/mL for free T3 (optimal levels are 3.5-4.5). Of course, the TSH looked normal at 1.8 µIU/L.

My next big dose of standard of care also comes from my recent experience of a diagnosis of cancer. My GI doctor who performed the colonoscopy called me up at 11:00 on a Friday (office closes at noon) and says, “You have cancer and you need chemo ASAP.” I had questions, of course. The main one being what stage cancer I had. His reply was, “We need a pelvic MRI to determine that.” My thought was, “Okay. Order one.” He told me the standard of care is chemo and he needed to know ASAP if I wanted my chemo to be done in Lubbock or Midland. I called him back 20 minutes later because I was more interested in surgery. I had reconciled I would probably end up with a colostomy bag. He never returned my call.

My nurse practitioner referred me to a local surgical group. They sent me their newest and greenest doctor. Not much skill is needed to relay, “The standard of care is the Nigro protocol of chemo.” The standards squashed any desire I had as a patient on what course of treatment I wanted. He did not order scans. They did, however, schedule me an appointment with an oncologist. Before I received my appointment date, I had made contact with the Cancer Treatment Centers of America. My appointment with the local oncologist was still not for another week following my return from Arizona. They flew me out and performed an extensive workup for three days. I finally had answers. I had a staging. I was told I had Stage 2 anal cancer. This was a continuation of my previous HPV driven vulvar cancer. That staging was Stage 0. Surgery has proved me well on that and my comfort level was still high with the surgical option. I was again reminded that the SOC was chemo and radiation.

The highly skilled surgeon at CTCA (far superior to what I had back home) performed a really gentle and thorough exam and determined that to do surgery, they would have to take the vaginal wall and basically skin graft the area. My goal was to preserve all my female parts. So on to the oncologist’s recommendation I went. The recommendation was two rounds of chemo and six weeks of radiation. The side effects of the radiation will still hold quite a bit of damage to my female parts. Many women who have undergone this regimen have spent a number of years undergoing reconstructive surgery to overcome the devastating effects of radiation. These women who I am now included with are not given the choice of surgery initially but have to undergo the 44-year-old chemo protocol and radiation. It’s hard to believe that cancer treatments have not advanced at all in a half a century. The reply being “because they work so well.” Big Pharma maintains a chokehold on doctors and their ability to think for themselves through the standards of care.

I continue to be strangled by the ever-beloved SOC.
Despite my thoughts of a healthy thyroid equals healthy folate levels, my thoughts didn’t matter. My health was in a pickle. I also had a vitamin D level at 29 ng/mL (optimal is 80 -100 ng/mL) . I had an extreme pain in my anal/vaginal area to the point of debilitating and my energy level was zero. I had to do something. I don’t usually call in favors, but I was desperate. I had resolved my elevated thyroid but didn’t feel any improvement. So I hit up my friend who is also a naturopathic physician. She was most concerned about the homocysteine level. I repeated my thyroid labs and checked antibodies. They were looking great. I turned those around lickety-split by taking desiccated thyroid at ½ grain for a couple weeks to suppress the pituitary and then adding another ½ grain to total 1 grain and working on my vitamin D levels.

Of course, in my narrow-mindedness, I didn’t know what in the world to do with an elevated homocysteine level. I had glazed over that equation for many years. Erica made some recommendations for an optimized B complex and optimized folate. I had never had the 23 and Me test to determine my MTHFR status. I knew it was likely I had an MTHFR mutation or some other condition affecting the folate metabolism between having a brother with Tourette’s, a father with alcoholism, and a child with Down syndrome. I had lost a good 50 pounds and was shriveling into nothing. Despite my attempts for better health, my foot cracked while on vacation, and I still felt rotten. Keeping up with a new business, a normally developing 12-year-old son, and a 10-year-old fireball little girl with Down syndrome, and marriage, I was still on the bottom side of stress with no conceivable way to get on top of it. I reran my labs after working on my B vitamin levels and folate. I had gotten my homocysteine down to 15!! Vitamin D was at 59 now, and thyroid was stable. It was too little, too late. I still had cancer and still didn’t have a choice in my treatments.

I learned that leucovorin (folinic acid) was being used in numerous chemo protocols. I asked my oncologist if I could add that to my regimen. Her reply was, “No. That is not the standard of care.” She won’t even run a dang homocysteine level!! Her response to the numerous abstracts I presented on the connection between HPV driven cancers and MTHFR was that it didn’t apply to me because these were third world countries and we have been fortifying our cereals and flours since the ‘70s. (The same timeline as the introduction of the TSH test for hypothyroidism, the Nigro chemotherapy protocol, and the increases in diseases such as autism and fibromyalgia and chronic fatigue syndrome to name a few.)

Here I am half a country away from home and my usual health care providers, and I am going to have to procure follow up on my own. Luckily, there is a LabCorp down the road from my hotel. I will continue to run my own labs to ensure I don’t get lost to the SOC if my advocacy attempts continue to fail. Ordering your own labs is easy and cheap. It just irks me that I can’t get a simple lab added to the weekly labs they are drawing to monitor a condition that feeds cancer and exacerbates side effects of chemo. Super delighted to have this subclavian port jabbing through my throat so I won’t have to be repeatedly poked with a needle so I can grab an Uber to go up the street to be…poked with another needle.

This is the link where order my own labs.

I had also requested half doses of chemo at twice the frequency because my body is so sensitive to treatments of any sort in general. Since that is not the standard, my request was shot down. After the fact of experiencing side effects unusually hard, I came across this information. I wish I would have known this before and I might have advocated a little harder for myself. Now it has been determined that they will only give me a half dose for my next round of chemo. While this focuses on methotrexate, the severity of side effects I am experiencing is identical. I knew my gut was talking really strongly, but to read that I can have a 36 percent increase in oral mucositis symptoms and a 34 percent slower recovery of platelet counts kind of took my breath away. I have battled those two side effects and others pretty hardcore.

“The retrospective analysis involved 220 bone-marrow transplant patients who received methotrexate, an antifolate drug used as standard therapy for preventing graft-vs-host disease, a common complication of marrow transplantation. In analyzing the patients’ stored DNA, Ulrich and colleagues found that those with the lowest activity of a key folate-metabolizing enzyme (called methylenetetrahydrofolate reductase, or MTHFR) suffered the highest degree of toxicity and treatment complications.

Side effects of methotrexate include oral mucositis and delayed blood-platelet recovery. Oral mucositis is characterized by a painful inflammation of the tissues lining the mouth, throat and gastrointestinal tract; delayed platelet recovery can interfere with blood clotting and require expensive platelet transfusions.
Patients with two copies of the MTHFR variant had less than half the rate of folate-enzyme activity as compared to those with only one copy of the mutation, resulting in a 36 percent increase in oral mucositis symptoms and a 34 percent slower recovery of platelet counts. This is the first study of its kind to show the impact of this genetic variant on drug response.”

“Oral mucositis is one of the worst side effects of marrow transplantation from the patient’s perspective because it interferes with their eating, drinking, talking, and sometimes even breathing. It also increases the risk of infection as well as the cost and duration of the hospital stay,” said Ulrich, an assistant member of the Hutchinson Center’s Public Health Sciences Division and a research assistant professor of epidemiology at the UW.
In addition to preventing graft-vs.-host-disease in marrow-transplant patients, methotrexate is used to treat certain cancers and, in lower doses, immune diseases such as rheumatoid arthritis. The drug works by temporarily interfering with the body’s use of folic acid, a nutrient needed for cell growth.

The reason patients with the MTHFR gene mutation suffer more severe side effects of antifolate chemotherapy, Ulrich hypothesizes, is because their bodies lack the adequate folate necessary to produce nucleotides — a key component of the DNA-repair machinery. Patients with variations in the MTHFR gene, in the future, may be candidates for more customized therapy, from altered dosages to alternative drugs.”

“We know that every patient reacts somewhat differently to the drugs they’re given and, until recently, our ability to understand how a patient will react has been very limited, based on characteristics like age and body weight,” Ulrich said. “Now, with our increasing understanding of genetics, we can better predict how patients will process a drug and thus provide the appropriate dose for that patient. Ultimately this will allow us to tailor our drug dosages to reduce toxicity, or side effects, and increase effectiveness.”

I will continue to advocate for leucovorin as a result of coming across this.

“5-FU is continuously degrading via the pyrimidine degradation pathways
To enhance the inactivation of TS, we increase the concentration of methylene-THF by dosing with leucovorin at the same time as 5-FU.”
3. More complex activation of chemotherapeutic for tissue-targeted intervention:
Capecitabine is a pyrimidine nucleotide derivative that undergoes a three-step conversion to the 5-FU: dealkylation, deamination, phosphorylase
This produces a steady supply of 5-FU, and tends to occur more in tumor tissue.””

I can see her qualms when I recommended surgery or chemo sensitivity testing. I mean, those are pretty big requests. I am at CTCA because they pride themselves on the Mother Standard and choices. And they do provide a nice standard offering things such as Qigong energy sessions, acupuncture, nutrition, organic farm, and a naturopathic physician. But at the end of the day, no matter where you are, Big Pharma dictated standards control the day. I hate to bash CTCA too much. Their care far exceeds what we have at home, and I would and have hoped on their train in a heartbeat with every ounce of gratitude I have. But I am irked I can’t get a homocysteine level or leucovorin. A suboptimally elevated homocysterine is a guide for me that I do not have optimal folate metabolism. It is a cheap, easy, and effective means of monitoring the end result of folate metabolism.

I was able to get her to order one set of thyroid labs. I was appreciative of the shaking that ensued in the naturopathic doctor when I brought up my homocysteine level to him to begin with. I would much rather be able to address this with an injection of leucovorin as there is a limit to just how many pills a person can swallow in a day. I had to titrate up to my folate dose and with every period of “falling off the wagon,” I find myself having to watch for anxieties that come with just jumping in full steam.

I want to end this diatribe to not lose my point I want to make: Mommas of special needs kiddos; Our stress is real. We wear it like a badge comparing it to the soldiers on the front lines of war. We know it is real. We feel it. We live it. But when you look up and you are on the underside of stress, it is too late. We don’t eat. We don’t sleep. If we are lucky, we still have a marriage that is intact, hanging by a thread. We are malnourished. We are tired. We are heartbroken. We redefine stress. Not even sure there is even a word that describes what we go through. We endure judgement. We have to be the doctors when we should just get to be mommas. Most of us are not of the fabric to be doctors and shouldn’t be expected to, though we are guilt riddled when we miss things the doctors should have caught. We endure snide remarks and looks from family and friends because if we do it well enough, the behaviors of our children are just because we are bad parents and not because they have special needs. We are continually in PTSD mode. We can’t continue like this. We have to rally and pull ourselves together. We have to stop and get our own labs, the ones that will keep us alive and not the ones limited to Big Pharma’s SOC. We have to take care of ourselves.

I drew the lucky straw, the one where I can be away from my kids and family and work for six weeks. I am one of a few that can take a short period of time and rehab myself if you can consider cancer treatments rehab. Most of us don’t fall into that category. My prayers are with you endlessly that you somehow find a way. Do something now before it is too late. God has spared me. Worst case scenario, I will get my initial request of surgery. That is pretty damn lucky. I sure didn’t give God much to work with. While my tumor may only be 2mm away from the vaginal wall, to God it is a foot. Give Him something to work with better than I did. When they performed an EUS, my staging jumped up to a Stage iiic.

We have to stop and take a break from being the educator, the doctor, the advocate and keep ourselves alive.
If you or anyone you know has had an abnormal pap smear, I encourage you/they request and push for anal paps. The percentages are too high for those affected and it can be caught early.
Leslie Boswell 2018 ©

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