8 – A Letter to My Sons

 

By Anne B. Ciemnecki (Editor of Facial Pain: Living Well with Neuropathic Facial Pain, Including Trigeminal Neuralgia)

We conclude this series with a heartfelt letter that I have written to my sons about familial trigeminal neuralgia (TN). Familial TN is rare. I do not want this to cause undue concern. Take the good advice from the letter along with the message that I love my sons mightily.

In 1979, when I sat in neurosurgeon Dr. Alan Gardner’s office, I was worried. My grandmother had TN, and so, now, did my mother. Would I? Dr. Gardner assured me that three direct descendants with TN would be the most gargantuan coincidence ever. He might even write a journal article about us! Nearly half a century later, I am doing the writing. Here is what we know about familial TN.

There are about 30 articles in the medical literature about familial TN. Most have been published within the past 3 years. In 2020, Dr. Jaydev Panchwagh wrote, “Familial TN is unusual by all means. It is likely to be less than 2% or 3% of all TN patients. It is possible that patients inherit their certain anatomical variations in either the brain and skull, or in the ‘make-up’ of blood vessel contours, laxity, or lengths that predispose them to both have TN. We don’t know” He did notice that, generally, the familial type of TN is on the same side in all affected family members.

In another 2020 study, the first of its kind, Giulia Di Stefano ( see previous story) and colleagues considered a large cohort of patients with TN to ascertain the occurrence of familial cases and to provide a systematic description of clinical features of the familial form of the disease. She found 12 occurrences of TN in her sample of 88 study participants, for a rate of 11%. Her group concluded that familial TN is more common than once thought and hypothesized that ion channel variants might contribute to the pathology in at least some cases of TN.

In a stematic review that ended with publications available in January 2021, Mari Aaroe Mannerak , Aslan Lashkarivand , and Per Kristian Eide looked at 71 studies. Only a few studies provided information about the prevalence of familial TN. Those studies indicated that about 1% to 2% of people with TN have the familial form. The available human studies suggest that 15 genes are possible contributors to the development of TN. The list reads like alphabet soup: CACNA1A, CACNA1H, CACNA1F, KCNK1, TRAK1, SCN9A, SCN8A, SCN3A, SCN10A, SCN5A, NTRK1, GABRG1, MPZ gene, MAOA gene and SLC6A4. Their roles in familial TN still need to be addressed.

Although experimental animal studies suggest an emerging role of genetics in trigeminal pain, the animal models may be more relevant for trigeminal neuropathic pain than for TN. In summary, this systematic review suggests a more significant role of genetic factors in TN pathogenesis than previously assumed.

Per Kristian Eide did a deeper dive later in 2021. He looked at 268 patients with either classical or type 2 TN. I have not seen a description of the sample of patients. The familial form of TN was present in 41 of the 268 or 15.3% of the patients. Of those, 15.2% had classical TN, and 16.7% had type 2 TN. Of the 41 families, 38 families had two affected members, five have three affected members, and one had four affected members. Rare indeed, and not necessarily direct descendants! In comparison to those without familial connections, the 41 people with familial TN showed significantly earlier onset of TN and a significantly higher occurrence of right-sided pain. In the familial cases, there was no difference in gender distribution, hypertension, or the branch of the nerve involved. Eide concluded that “The occurrence of the familial form of the disease is more frequent than traditionally assumed”.

A few additional articles on familial TN have been published. A 2022 study in PAIN by Gambeta et al. claims that CaV3.2 calcium channels contribute to TN. Another 2022 study by our own Medical Advisory Board member, Wolfgang Liedtke, does not support that finding. The one thing that many believe in now, thanks to research by Giulia Di Stefano is that it is not the gene itself that correlates with TN, but a mutation in the gene. You can find Dr. Di Stefano’s work in Chapter 7.5.

In summary, we have a lot to learn about familial TN. We hope that science will enlighten us on the form of TN that exhibits itself amongst relations and that we will all be the better for knowing it.

Dear Brian and David,

So, Brian, I worried when you moved to Oklahoma City at just 22 years old to begin your career as a meteorologist. You knew no one. I was not sure you could cook or do laundry. Most of all, I worried that you would miss us as much as we missed you. Within 6 months, you met people who would become your friends. Of course, your friends influenced you to take part in activities that caused me to worry. Were you drinking or doing drugs? No, you were chasing tornadoes! How did you think I would feel when you sent me a selfie that looked like you were holding a tornado in your hand? I will tell you what I thought: I thought you would find yourself in the land of Oz talking to Glinda, the Good Witch of the North. She would explain that you were in Munchkinland. You might think of donuts—I was thinking of flying monkeys.

And David, was it necessary to kayak around the Statue of Liberty—twice—in an inflatable kayak? Is that water clean? Didn’t you worry about the ferries? What if you had a close encounter with a sharp rock? You even watched from your office window, in 2009, when US Airways Flight 1549 crash-landed on the Hudson River shortly after taking off from LaGuardia. Was Captain Chesley (“Sully”) Sullenberger III in that kayak with you? No, it was your friend Anthony, whose mother worries as much as I do. What were you thinking? You were thinking that it was a great adventure. I was thinking that there might not be second “Miracle on the Hudson.”

Guys, I have worried about you since before you were born. Would you have 10 fingers and 10 toes? Would you hit all your first-year milestones? Would you smile, sit up, babble, walk, and talk on time? Would you like preschool? Could you color within the lines when necessary? Would you learn to read, write, and do arithmetic? Would you survive middle school without too much bullying? Would you be able to work the locker combination in high school and climb the ropes in gym class? Would you have a nice group of friends? Would you be accepted at the college of your choice? (David, I worried a lot when you applied to only one school because you were so sure you would be accepted. You were!) Would you meet a life partner? Would you have respect for others, and would others respect you? Would you be a mensch (a person of integrity and honor)?

I worried for nothing. You both grew up to be respectable, responsible young (well, now middle-aged) men. You have beautiful, kindhearted wives and sons whom I love with all my being.

Yet, one worry stays in my heart. As you know, both my maternal grandmother, Nana Linder, and my mother, your Grandmommy, had classic trigeminal neuralgia. Nana Linder managed her pain with glycerol injections, Dilantin, and later Tegretol, as well as her after-dinner joint. She grew the marijuana plants in her garden. She suffered. I was not aware of it until my mother’s pain began. Nana Linder lived to the age of 79 and had complications from cirrhosis of the liver. Her doctors thought that she abused alcohol. The truth was that her body could not process the required pain medications.

My mother suffered miserably. Her pain was intense, and she took high doses of Dilantin and Tegretol. The drugs barely helped. She could not bite, chew, or brush her teeth easily. Eventually, she had a right-sided rhizotomy that relieved the pain but left her numb. Soon after, she experienced left-sided pain and had another rhizotomy. After that, the pain returned to a different branch of the nerve on the right side. She was not well enough for another rhizotomy and treated the new pain with high doses of medication. Along with difficulty eating, she had Crohn’s disease, which caused problems digesting food and absorbing nutrients. She died at the age of 70, weighing just 85 pounds. She probably starved to death.

Our family history of facial pain leaves much to be desired. You could say that effects of trigeminal neuralgia killed both my mother and grandmother. I have been more fortunate. Medical procedures have progressed. The two microvascular decompressions that helped me were not available to either of them. Neither was gamma knife radiosurgery. Today’s medications are somewhat safer. The internet makes us smarter. Rare diseases are recognized and supported by organizations like the Facial Pain Association (FPA). There is even more progress. Clearer, three-dimensional MRIs and virtual reality mean more exact surgical procedures. Basimglurant, a new drug in phase II/III clinical testing, was developed specifically for trigeminal neuralgia. Doctors are exploring the NRF2 network. More will come over the next decades.

I pray that you do not inherit this horrific scourge of a disease. You may not. It affects females in our family. But our family’s course of trigeminal pain is unusual. If you are affected, it might be long after I am gone. So, as you have surmised, I have nuggets of wisdom for you. You should heed the first, fourth, and seventh ones RIGHT NOW!

1. If trigeminal neuralgia strikes (no pun intended), you will feel like you have a tooth problem and seek the advice of a dentist. Check in with your dentist now. Be sure they are aware of trigeminal neuralgia and your family history. Guide them to the website of the Facial Pain Association (FPA), https://www.facepain.org/exactlyzero/. If they have not taken continuing education courses in neuropathic facial pain, encourage them to do so. The FPA sponsors such courses periodically, often at no cost. If they are not interested, or if they say they know everything there is to know about neuropathic facial pain, find a new dentist! Oh yeah—and do not have any root canals, extractions, or other dental (or sinus) surgeries until you rule out trigeminal neuralgia.
2. How do you rule out trigeminal neuralgia? Visit an orofacial pain specialist. Orofacial pain is the specialty of dentistry that encompasses the diagnosis, management, and treatment of pain disorders of the jaw, mouth, face, head, and neck. An orofacial pain doctor is trained in the evidence-based understanding of the underlying pathophysiology, etiology, and prevention of this pain, along with its treatment. They are in the best position to differentiate between a dental problem and a trigeminal nerve problem. To find an orofacial pain dentist, search under the “Find a Member” tab of the American Academy of Orofacial Pain’s website, https://aaop.org. Select someone who is a Fellow of the Academy. These specialists bill under your medical rather than dental insurance. If you are not sure, ask the office to file the claim with your medical plan. Usually, dental benefits are more limited than medical benefits.
3. Even if facial pain strikes, keep up your general dental work. Ask the dentist to use both short- and long-lasting injectable anesthesia even for a prophylactic exam. The last thing you need is extensive dental work because you are not taking care of your teeth. There are dentists, usually associated with dental schools, who specialize in working with patients with facial pain. Call a faculty practice associated with a dental school to find one.
4. Develop a relationship with a primary care physician who will work with and “play well” with your facial pain specialist. You are likely to need blood tests and medical examinations before taking drugs or having certain procedures. You will want all results documented in your general medical record and in the records of specialists who are treating your trigeminal neuropathic pain. Seeing one primary care specialist with whom you have a great relationship facilitates this. Using patient portals helps you and your doctors share information. (Try to select a physician who is younger than you. You do not want the doctor to retire before you die! Same goes for the orofacial pain specialist.)
5. Once you begin to take medication, use one, and only one, pharmacy unless you need drugs that are only available outside that pharmacy. Compounded drugs are an example. If possible, work with the same one or two pharmacists. Many drugs are used off-label and will seem odd to the pharmacist. A pharmacist may not even fill your prescriptions without an explanation. Keeping to the same pharmacy will ensure that all your drugs are documented in one place and that the pharmacist can check for hazardous drug interactions.
6. Avoid opiates except in extremely acute situations and for brief time periods. Opiates do not protect against neuropathic pain, and you are likely to become addicted. If you must, ask your doctor for a plan to titrate off the opiates. Or ask your new best friend, the pharmacist. Many doctors are incredibly good at prescribing drugs to ease your pain, but not particularly good at getting you off the drugs. Drug withdrawal is ugly and painful. Have a plan. Do not try to do much else while weaning off.
7. Keep working. No matter how much pain you are in, keep working. You cannot get through this disease without health insurance benefits. Do not do anything that will compromise your health benefits. Level up to the best, most flexible health insurance coverage you can afford now. Treatments and drugs for neuropathic facial pain are expensive. It may be too late to get better coverage if your pain is considered a preexisting condition. 
8. Do not be afraid of treatments. Brain surgery sounds scary, but it might be easier than years and years of drugs—and it could mean more relief. Just be sure that any procedure you select is evidence-based. Select a trusted, experienced doctor. Start with the list of FPA Medical Advisory Board members. Travel to reach the right specialist if you need to. Remember, there is no magic bullet. You may need to take medication after surgery or have acupuncture along with medication. Use whatever evidence-based combinations of treatments and drugs are necessary to relieve the pain and allow you to live your life. As a researcher and a person with facial pain, I will come back and haunt you if you do not select evidence-based drugs and treatments. Although there is some disagreement about when to have surgical procedures, I recommend getting them as soon as possible. Trigeminal neuralgia progresses. The longer you wait, the more damage the vascular compression does. The risk with waiting is that you will be in more pain and surgical outcomes will be less effective.
9. Know your triggers. Then, avoid them. You know that my triggers are cold drinks and cold air, especially cold blowing air, on my face. If you pay attention, triggers will be obvious. If brushing your teeth triggers pain, you may need to switch to a smaller, softer toothbrush. If indoor cold air is a trigger, choose a seat that is out of the breeze. If outdoor chilly air is a trigger, invest in a collection of scarves. Avoiding triggers is not always easy, but if you are creative, you can make yourself much more comfortable.
10. Tell people. Let me tell you how I learned to be honest about my pain. One day, I was having a conversation with a valued colleague. I was not at my best and told him what was wrong. He said, “Okay then, all this time I thought you were just a bitch.” Being honest about your pain has many advantages. First, the pain shows on your face. People will assume something is wrong and not know what it is. They may think you are angry but do not know why. If you fess up about your pain, people will support you. That does not mean they will pity you. It means they will help you out in small, but important, ways. We were not supposed to block the air ducts in our offices. When the facilities staff learned why I taped a piece of cardboard over the air vent, they looked the other way. Be sure to tell your children also. They know, and even when they are small, they can be accommodating. When Kyle was a baby, before kissing me, he would ask, “Which side is your boo-boo face, Didi?”
11. Seek support. You cannot get through this disease by yourself. Find a support group that meets at least once a month. Support group members will share their feelings, experiences, coping strategies, and firsthand treatment information. They tell you about helpful resources. Your relationship with a doctor or other medical professional may not provide adequate emotional support, and your family and friends may not understand the impact of trigeminal neuropathic pain. Your support group will fill the emotional support gap. Participating in a group provides you with an opportunity to be with people who have a common purpose and understand one another. The best support group conversations are ones that are not related to facial pain, but instead, are pleasant discussions with like-minded people. You can find support groups on the FPA website. Some are location-based and meet in-person. Others are virtual. Some are for people with a particular kind of facial pain, for example, people with facial pain and multiple sclerosis or people whose pain is/was due to a brain tumor. Some are for young people. Find a group that works for you. If you cannot find one, start one! Most of all, show that you are grateful for the support that you get from your family and friends. No one signs up to have a partner, friend, or parent in chronic pain. People who stick with you for a lifetime of trigeminal neuralgia are gems.
12. Do not let trigeminal neuralgia take over your life. The disease will be as devastating as you allow it to be. Try not to stop going places, seeing people, and doing things you love. Distraction is a great pain reliever. Will I take a vacation if I am in pain? Heck, yes! I would be in pain if I stayed home, so why not relax on a beach, or look at mountains? If I could bottle up the joy I get from my grandchildren, I would. I am never in pain when I am with them. Pets also relieve pain, as do hobbies. Try to keep your medication levels low enough to be in the land of the living. I have had times when my medication levels were too high to allow driving. This was when I was taking methadone, an opiate for pain relief. Other medications do not take the same toll on your body or mind. Tell your doctor what you value most so they can prescribe drugs or treatments that allow you to engage in those valued activities.
13. Be kind to yourself. Do, but do not overdo. Fighting pain is hard and consumes your energy. Rest when you need to. Try not to overschedule yourself. Get enough sleep. Eat nutritious meals even if you need to eat soft foods.
14. Nothing will give you as much of a sense of empowerment, control, or hope as giving to others. You both make financial contributions to the FPA, and I am so proud of and grateful for those contributions. Give of yourself also. Become a peer mentor, a support group leader, or a holiday Phone a Pain Pal buddy. Think about how much you can support others who see their parents or friends in pain. If you want to volunteer for an organization other than the FPA, that is okay. Just give of yourself.

I will end this letter with one last thought. You are the strongest people I know. Living in a household with a primary caregiver in constant pain is very, very unsettling. All you want to do is take the pain away, and of course, you cannot. I have been on both sides of this pain. It is much harder to watch someone in pain than to be someone in pain. Emotionally, you have been through the worst of trigeminal neuralgia. I pray that you never experience this pain yourself. Would I have wanted children if I knew they might inherit the pain? First, understand that researchers did not consider trigeminal neuralgia hereditary in the 1970s and 1980s. Daddy and I did not make a conscious decision to start a family despite the pain. I am glad I did not know. I cannot imagine life without either one of you.

All my love, forever, Mom