Siara Wallace is my next guest for the Chronic Illness Support Guest Blog! You can find information Siara has provided about Marfan Syndrome and Arteriovenous Malformations (AVMS) as well as some of her journey. We hope you find this information helpful in your journey with Marfan Syndrome, AVMS, and/or chronic illness.
Illnesses: Marfan Syndrome and Arteriovenous Malformations (AVMs)
Tell us about yourself, what illness we are talking about today, when you were diagnosed, how, what led to diagnosis, etc.
I'm a mom, wife, and a certified medical assistant with a Bachelor of Science in Exercise Sport Science and a minor in Psychology. I live in SC. I am 29 years old. I have known I was "different" all my life, but I never let it stop me from achieving goals. I did pretty much start taking medicine from birth, since my parents had me watched by a cardiologist knowing I would most likely have Marfan due to my genetic predisposition.
Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which is what holds all the body’s cells, organs and tissue all together. It can affect many different parts of the body but mainly the aorta in the heart. Most people affected with Marfan are very tall, slender, and flexible.
Arteriovenous malformations (AVMs) are defects in your vascular system, which is what carries blood around your body and includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a big ball of arteries and veins that have no capillaries and interferes with circulation and blood delivery to your organs.
As Marfan is a genetic disorder, my mother knew there was a chance of giving me this upon birth. My mother's side of the family has this genetic trait and I have been treated my entire life. However, in our family, it seems that each generation it gets worse and open heart surgery age is younger and younger. I ended up having my aortic valve replaced due to aortic valve enlargement at the age of 17; my cousin's son had his at 10. My mother and her brothers were at least 33 or older when they had surgery.
Along with the connective disorder symptoms of Marfan, my family has these vascular anomalies called AVMs that can appear all over the body, but especially in brain and lungs. I recently had one embolized in my cervical spine that I will talk about more in detail later in this interview.
How long did you suffer with symptoms before you were diagnosed?
This is where I would like to talk a little bit more in depth about my recent experience with AVMs and my emergency surgery at the end of September 2019/beginning of October 2019.
One Sunday afternoon 4 hours before time to get off work, I started to feel really hot. This is very unusual for me because I am always very cold, which I attribute to being on blood thinners post my aortic valve replacement. I then noticed my right arm was going numb and wasn't able to raise it up very far. I started to get very worried. I then had the most excruciating pain on the right side of my head behind my ear. My coworker called 911 because we thought I was having a stroke. I was taken to a local hospital's ER who called code stroke and did some immediate imaging. Upon looking at the images, they immediately wanted to send me to another hospital in a neighboring state that wasn't far that had a great neurology department to look at the scans. I went by ambulance to their ER and sat for hours in pain without any help. Finally after 8 hours, a Neurologist and Radiologist came in and said they thought I was having a chronic migraine and sent me home with no relief from my pain. I continued to have these episodes of pain with stroke like symptoms over and over and knew they were not just migraines and not normal, so I sought out answers from my general practitioner and my cardiologist. My GP thought I was having muscle spasms and gave me a muscle relaxer and pain medication. That night at 2am, I had the worst episode I had ever had and I screamed in pain. It scared my cop husband so much that he decided to call an ambulance and tell them to take me to another local hospital in a neighboring state. Upon arriving, the neurologist looked at my images and said I had an AVM in my cervical spine. In fact upon further inspection, the neurologist and neurosurgeon found the AVM to start in my C2 to C3 then begin tunneling down through my spinal cord down to C7. They admitted me to the hospital and the neurosurgeon wanted to do an exploratory procedure right away called an angiography. This is where the doctor goes in through your groin with a thin plastic tube and snakes it up through vessels to where the AVM is located and puts in contrast. The doctors then can see pictures of major blood vessels supplying the AVM. The doctor can sometimes treat the AVM at the same time, which is exactly what they did during my procedure. The treatment procedure called embolization involves the injection of glue or coils into the AVM in order to block blood flow to it. I was in the OR for 8 hours. Also, keep in mind I went into this procedure being told I may come out paralyzed due to location of the AVM. When I woke up from the procedure able to move my fingers and toes, I felt so blessed.
What treatments have you tried? Did they help? Did you have side effects?
I have lost the feeling on the right side of my body and a little trouble using my right arm and hand. That, however, should be temporary. I'm hoping to start some therapy soon. I am also hypersensitive to temperature and touch on my right arm and right side of my head. Lastly, it is quite difficult to turn my neck due to inflammation post treatment. I also have a difficult time getting comfortable at bedtime.
What are five must haves that you can’t live without that help you cope with your chronic illness?
How does it affect your daily life?
After my aortic valve replacement I have been doing quite well. The biggest challenge/change after the surgery was being placed on Warfarin, which is a blood thinner. The goal of Warfarin therapy is to decrease the chance of a clot forming, clotting in the blood. Someone on Warfarin has to be monitored with frequent blood tests to check INR or International Normalized Ratio. This just means how fast or slow your blood clots. Why is this difficult or important? A foreign object in your body (my mechanical valve) would be attacked by clots if INR is too low and cause excessive bleeding if too high. You also have to go on a specific diet watching the amount of vitamin K intake. Warfarin works against vitamin K because vitamin K makes your blood healthy and able to coagulate (thicken) fast. Vegetables high in vitamin K include spinach, cabbage, and broccoli. So how does my intake of vitamin K affect my Warfarin? A significant change in my intake of vitamin K can result in a significant, and potentially dangerous, change in my INR. For example, if I reduce the amount of vitamin K in my diet, my INR will increase and my potential to bleed is higher.
How are you doing now with symptoms?
Post surgery, I am learning many lessons. Taking one day at a time. Learning patience, because my complete recovery time is not days, it is months. Learning to be humble. It is so difficult to allow someone to help me shower or get dressed at 29 years old.
What piece of advice do you want to give readers?
#1 Do not ever give up! You know your body. If you do not receive what you feel is a proper diagnosis, then go seek care from somewhere else! If I had given up, I would hate to think what would have happened.
#2 The most important part of living and accepting having a chronic illness or debilitating diagnosis is having a wonderful support system surrounding you. Accept their love and help when offered, no matter how big or small. Having my family and friends visiting me the night before my procedure and days following to pray and hug me gave me the hope I needed to get through that tough time.
How can someone show support?
February is Marfan Awareness Month and The Marfan Foundation urges everyone to get educated, because awareness is critical. According to the Marfan Foundation, "There are approximately 200,000 people in the country that have Marfan or a related disorder, experts say that half are not diagnosed and are at risk of a sudden early death from a tear in their aorta".
Burgundy is the color of AVM and Brain Aneurysm Awareness Ribbons. October is AVM and Brain Aneurysm Awareness month and the goal of the month is reaching out to people and spreading awareness with the hope of making positive differences in people's lives.
How can readers connect with you?
Readers can find me on Facebook: Siara J. Wallace
Michelle N. Johnson is my next guest for the Chronic Illness Support Guest Blog! You can find information Michelle has provided about endometriosis and adenomyosis as well as some of her journey below. We hope you find this information helpful in your journey with endometriosis and/or chronic illness.
Tell us about yourself, what illness we are talking about today, when you were diagnosed, how and what led to the diagnosis, etc.
I am the founder of the Fighting Fiercely Endometriosis Awareness movement and author of Fighting Fiercely: Unveiling the Unknown about Endometriosis. I am also a patient advocate with the Chronic Disease Coalition. I was born and raised in Chicago and was 33 years old at the time of my diagnosis. I had been experiencing excruciating pain in my midback on the left side for quite some time, and after being sent to the ER for what was thought to be a ruptured appendix and an eventual 10 day hospital stay, I was finally diagnosed with stage 4 Endometriosis. As it turned out, what was thought to be the ruptured appendix, was actually a large endometrioma that had begun to press against my bladder and kidneys, causing an infection.
How long did you suffer from symptoms before you were diagnosed?
At the time of diagnosis, I was told that I had one of the worst cases my doctor had ever seen, and that based on the severity of disease present, I’d had if for at least 10 years. In hindsight though, knowing what I know now, I believe I’d been having symptoms as early as 16 years old.
What treatments have you tried? Did they help? Did you have side effects? Etc.
Over the years, I have tried many treatment options, with varying degrees of success. I have tried high dose pain killers, including: (Ibuprofen 800 mg 3x’s/day, every day), Dilaudid, Fentanyl, Tramadol, Elavil, Neurontin, Mefenamic Acid, Vicodin, Norco, and Oxycodone. I’ve also tried hormonal therapies with continuous birth control and Lupron. I’ve tried nutrition and dietary changes as well, along with herbal and homeopathic remedies, pelvic floor therapy and therapeutic massage. I’ve had 2 excision surgeries and a hysterectomy.
Elavil helped really well for a few years. But, it took quite a bit of experimenting to find the right dose to control the pain and allow me to function for daily life activities; as higher doses can cause marked drowsiness. After experimenting with many types of birth control, I have found more long term relief the past few years taking Sprintec continuously. Though I’m not committed to any particular dietary label, I have found that eating a more plant-based diet and continuing to eliminate my trigger foods gives me even greater relief than most of my medications.
I’ve had the worst experiences with Neurontin and Lupron. Neurontin gave my equilibrium imbalance and vivid night dreams. I also had terrible vertigo and severe nausea. Lupron was the worst of them all. Almost immediately upon starting the drug, I experienced hair loss, rapid weight gain, severe acne breakouts, night sweats, severe hot flashes, vertigo, seeing spots, hearing sounds that weren’t there, blurred vision, memory loss, headaches, vaginal dryness, bruising very easily, and extreme mood swings. I developed severe depression, anxiety, and suicidal ideations. I still experience severe TMJ and teeth clenching/weakening 11 years later. I also still struggle with episodic anxiety and depression as well.
My best experiences have been with excision, pelvic floor physical therapy, and hysterectomy.
My first excision was is 2008 and it would be another 10 years before I’d need another one. I received pelvic floor therapy after both of my surgeries and I feel that it played a big part in strengthening my core and helping the muscle spasms that I used to have. I recently had a hysterectomy one year ago, and that was for my severe diffused adenomyosis, which I was diagnosed with several years after endo.
What are five must-haves that you can’t live without that help you cope with your chronic illness (Ex. book to read, coloring book, heating pad, bath, etc.)?
Five things that I must have, especially on a bad pain day are:
My hot water bottle, herbal tea, my microwavable neck wrap, valerian root extract, and Netflix.
Do you have other illnesses? If so, would you like to mention them? What are they?
In addition to my endometriosis, I was diagnosed with severe diffused adenomyosis. I recently underwent a hysterectomy last May for it.
What is something you wish you would have known when you were diagnosed?
I wish I had known that there was no cure. My first doctors left me with the impression that once I had surgery, that would be final and I would never have to worry about it again. If only I had known then, how wrong they were.
How does it affect your daily life?
Since the surgery, it doesn’t affect me in terms of pain and discomfort as much as it used to. However, I still need to be mindful of what I eat. I still need to take care to not physically over-exert myself and keep my stress levels at a minimum. I still need to monitor and track my symptoms, being sure to note any significant changes. I still have to remember that absence of symptoms does not equal absence of pathology and I still have to use all of my management tools at 100%, even if my symptoms are repressed or negligible.
How are you doing now with symptoms etc.?
Right now, I’d say I’m about 90% pain-free, following my last surgery. I do still have my right ovary, so I do have mini flare-ups from time to time. I also struggle with occasional fatigue, but overall, I would say my quality of life and health has improved significantly.
Is there any other information you would like us to know about your illness?
The main thing I want people to know about my illness is that it does not define who I am. It has definitely repositioned and restructured many areas of my life. It has caused me to look at myself and learn to love myself in a new and different way. While it has become an additional part of my life, it does not control my life.
What piece of advice do you want to give readers?
I would say to readers, please don’t discount or ignore the toll that this disease can take on your mental health. Consider making therapy or counseling an integral part of your treatment plan. Depression and increasing suicide rates among endometriosis patients are steadily increasing, yet it is largely left out of the discussion when we talk about treatment plans and symptom management.
How can someone show support?
If someone in your life has endometriosis, one of the best ways to show support is to simply listen. Don’t listen to respond. Don’t listen to always offer advice. Just listen and let them be heard. Often, we are dismissed in so many ways by so many people, the biggest show of support we can receive is to have someone simply say: I hear you, and I believe you.
How can readers connect with you?
Readers can connect with me through any of the following:
Heather Guidone, Program Director, Center for Endometriosis Care is the first guest for the Chronic Illness Support Guest Blog! You can find information Heather has provided about endometriosis and adenomyosis as well as some of her journey below. We hope you find this information helpful in your journey with endometriosis and/or chronic illness.
Illness: former stage 4 endometriosis/adenomyosis
What is the difference between a gynecologist and an endometriosis specialist? A general gynecologist typically divides their time between OB and Gyn. They may also do some pelvic surgery and in-office procedures; rarely, however, do they perform advanced surgery (excision) for endometriosis. They do provide a wide range of important women’s health care services, but typically don’t offer subspecialty care for the disease.
Endometriosis specialists, by contrast, are dedicated to the diagnosis and expert treatment of the disease. In a Center of Expertise like ours, for example, we are exclusively focused on endometriosis and related pelvic pain gynepathologies. We’ve spent the past three decades providing diagnosis and highly skilled treatment of the disease, utilizing a multidisciplinary Laparoscopic Excision (LAPEX) / integrative care approach. We are also heavily involved in endometriosis surgery training and collaborative education, advocacy and policy efforts.
The caveat is, there is no formal accreditation for “endometriosis specialists” – therefore, any OBGyn can say they are a specialist. Peer recognition and patient referrals can play a large role in finding an actual specialist, and be sure to ask the right questions and look for red flags: http://centerforendo.com/drqanda
How can people become more educated about endometriosis and what resources do you recommend?
There is so much misinformation ‘out there’ about endometriosis. Sadly, even some of the most trusted medical sites we would typically turn to for accurate health education don’t have quality information about the disease, and the media largely gets it wrong quite often as well. Even some of the organizations founded to promote the disease have misinformation in their materials. It’s so important for people living with endometriosis - or who think they may have the disease - and their caregivers to seek out *quality* resources, as factual education, connecting with others who understand and finding the best care possible are the keys to coping better. A great place to learn about all things endo is our website, especially our educational article at http://centerforendo.com/endometriosis-understanding-a-complex-disease.
Check out moderated support communities as well – places like Nancy’s Nook for Endometriosis Education, Endometropolis and the ExtraPelvic Not Rare FB groups can help you find others who live with the disease, and those groups often feature input from endo specialists. There are lots of quality endometriosis organizations which can also help, that have the shared universal mission of raising awareness and connecting visitors to various resources. Some of them are listed here:
There are other key resources as well, such as -
Dr Sallie Sarrel and Dr Andrea Vidali’s EndoSummit, a fantastic educational event for professionals and patients alike: https://theendometriosissummit.com/
https://www.aagl.org/ - AAGL is a terrific professional organization for your doctors to be involved with. They also offer a patient-facing site for general gyn surg resources and information: http://www.misforwomen.com/
EndoWhat? and Endometriosis New Zealand have outstanding education programs in place:
https://www.endowhat.com/ - in addition to their School Nurse program, EndoWhat? is also home to the groundbreaking endometriosis documentaries of the same name.
Some great books to add to your endo library include (in no particular order):
“Doing Harm” by Maya Dusenbery
“My Femtruth” and “Femtruth: Endometriosis Edition” by Silvia Young
“Living with Endometriosis” by Samantha Bowick
“Endometriosis: Healing Through Nutrition” by Dian Shepperson Mills & Michael Vernon
“Googling Endometriosis”, “Surgical Management of Endometriosis” and “Endometriosis: 100 Q&A” by Dr David Redwine; you can also see his work at http://endopaedia.info
“Beating Endo” by Dr Iris Orbuch & Dr Amy Stein
“Endometriosis: the Makings of a Modern Epidemic” by Kate Seear
“Endometriosis and Pelvic Pain” by Dr Susan Evans & Deborah Bush
What is something you wish you would have known at the beginning of your diagnosis? So much! Most importantly, I would go back and tell my younger self that the pain and symptoms weren’t normal, they weren’t in my head, and I didn’t have to suffer in silence needlessly. I would tell myself that better care was possible, and that the disease is best treated through an integrative approach ranging from excision surgery to pelvic floor therapy.
How did you first get involved in endometriosis and patient advocacy? I was diagnosed decades ago in my late teens, so there was no social media, no publicity campaigns, no awareness walks, no websites, no talk shows featuring the disease, no celebrity PR efforts featuring their stories alongside their doctors. I had never heard the word prior to diagnosis. No one talked about endometriosis. I didn’t know anyone with it. I had no idea who might relate to my situation. So my determination to get answers about my own health brought out the citizen scientist in me and was really the early driving factor to what became a lifelong professional role in endometriosis. I spent a lot of time in libraries, poring over books and calling researchers out of the blue – no PubMed.gov in the late 1980s! - and eventually my efforts led me to a then-small community of others. We communicated by phone and actual letters (gasp!); those people were a lifesaver for me then. I was presented with some opportunities to do outreach and education, and ultimately an accidental activist was born. I then eventually connected with others professionally and started working in the endometriosis space exclusively and full time. Serving as Faculty at many events and being a part of so many boards, panels, coalitions and other endometriosis projects, I have had the absolute honor and privilege of collaborating with some of the best advocates in the global endometriosis community – standing on the shoulders of many giants - and they still continue to inspire me through their tireless efforts today. It is humbling to do the work we do, and I consider myself incredibly fortunate that I was able to take my experiences with the disease and turn them into something that might help others.
There is a lot of injustice surrounding endometriosis, make no mistake, and the disease space is rife with the agendas and biases of some. Patients don't always come first in this disease in some places, sadly, and many decisions are made about us without us. On many days it feels as though we are still pushing the same heavy boulder from 30 years ago uphill. Having the benefit of historical perspective, however, I do know that there are now many more people pushing the boulder with us, and we really have made tremendous strides over the years. There are a lot of good individuals working hard to find answers and make life better for all those affected by endometriosis. It’s a privilege to stand among them.
Tell us about yourself, what illness we are talking about today (definition, symptoms, etc.) and when you were diagnosed, how, what led to diagnosis, etc. Endometriosis is a disease characterized by the presence of endometrial-like tissue located in extra-uterine sites (“endometrial-like” is an important distinction, as the lesions are not comprised simply of normal endometrium that has gone rogue, as is often mistakenly claimed). The disease is a major cause of pain, subfertility, disability and significantly compromised quality of life. Impaired bowel, urinary, sexual and reproductive functions are common with endometriosis, and its systemic influences can significantly impact physical, mental, emotional and social well-being. Though often described as a ‘disease of menstruation’ and linked only to ‘painful periods’, endometriosis can in fact impact menstruators and non-menstruators alike, with symptoms routinely affecting sufferers far and apart from menses - including those who have undergone hysterectomy, do not menstruate (and in some cases, have never menstruated) and/or are post-menopausal. Teens and adolescents can also suffer from the disease, and we must also be inclusive of gender diverse people struggling to access endometriosis care and validation within a traditionally female-identified space.
The far-reaching impact of the disease on health-related quality of life cannot be undervalued – those living with endometriosis collectively report disruption (often chronic) to all domains of life, including work, education and social activities. The disease also takes a considerable financial toll on those affected, with personal costs estimated beyond $10,000 per patient, per year in the United States alone and beyond $15,000 per patient, per year in lost work productivity, according to recent data.
While endometriosis most commonly develops on pelvic structures, it is also found in distant locations like the lungs - yet is often ignored, misdiagnosed and/or improperly treated. For example, left incorrectly or inadequately treated, sciatic endometriosis can cause nerve damage; GI involvement can result in anatomic distortion, pain and alterations of bowel habits such as constipation, diarrhea, tenesmus, dyschezia and rectal bleeding; and bladder endometriosis may result in urinary frequency, tenesmus, burning pain, pain with micturition, dsyuria and suprapubic discomfort or pain. Without question, endometriosis is a systemic disease with body-wide impact; early diagnosis and proper intervention are critical. Unfortunately, despite affecting an estimated 176 million individuals, quality of care for endometriosis remains fragmented, with high treatment failures and consequent recurrence posing formidable challenges outside the subspecialty centers. Definitive causes remain elusive, as do universal cure or prevention, and much of the discourse surrounding etiology and treatments is ardently debated.
I've lectured and met patients and professionals from around the world, and our stories are always the same. Mine isn't different or noteworthy. My diagnosis came about just like anyone else’s...after being tired of suffering, I said ‘enough’ and demanded answers. I eventually was fortunate enough to find a caring physician who believed me, and immediately scheduled me for laparotomy, diagnosing me with stage 4 disease with deep bowel, bladder and extrapelvic involvement. Unfortunately, he retired soon after, leaving me in the hands of other doctors who didn’t understand endometriosis at all. That was the beginning of my long repeat surgical/medical suppression journey of failed treatments, infertility, crippling pain and a derailed life for years. My relief finally came through the hands of compassionate, skilled endo specialist – 2,000 miles away – who changed – and saved - my life.
What treatments have you tried? Did they help? Did you have side effects? Etc. Before my excision surgery – the only thing that ever helped my pain and infertility – I had multiple laparotomies, laparoscopies with superficial ablation of some lesions and a lot of lesions left behind, countless oral contraceptives, 4 rounds of Lupron injections (by the time I was 29 I had osteopenia, and by the time I was 39 I had osteoporosis – draw from that whatever conclusion you’d like), and various other fruitless attempts to treat my pain and crippling symptoms. I also had an emergency cholycystectomy, and later, a total hysterectomy (including cervix)/bilateral salpingoophorectomy following the birth of my child. Like many with endometriosis, I also had an incredibly complicated high risk pregnancy, after struggling with infertility for so long. Had I been able to access specialty care at the first signs of my disease, I would likely not have had to undergo poor surgeries - which made quality surgery that much more difficult - and medical therapies that were harmful to me, while continuing to suffer from a disease which just became progressively more painful and worse as time went on. I can’t change anything for myself, but I can continue my fight to make sure no one else has to be subjected to such abysmal care. Quality treatment and skilled, caring physicians do exist - no one needs to put up with subpar treatment or dismissal by any doctor.
Do you have other illnesses? Like many people with endometriosis, I also have other health challenges, among them being Hashimoto’s Disease, which can be a real struggle to manage; I have a wonderful doctor who has been with me for years trying to find the right ‘cocktail’ for that. I have some other things I deal with as well, like probably most of us in the community. We are all muddling through, doing the best we can.
How can someone show support (awareness colors/ribbons, etc.)? Yellow is the ribbon color for endometriosis (along with a couple other very important causes like support of our troops). The best way anyone can show support for someone with the disease, however, is by educating themselves and letting their loved one know they believe them when they say they are in pain. There are many other ways to help someone with endo as well, such as going to doctor visits with them or buying them an educational book on the disease. Reach out – ask your loved one with endo how to do the most good for them. Employers can also help support endometriosis by educating staff about the disease, making treatment resources available under any insurance plans, and accommodating their affected employees to the extent possible.
How can readers connect with you (Ex. Instagram, Twitter, Facebook, Website, etc.)?
We are also very pleased to offer free records reviews for anyone who may wish to determine if our Center can help them. Many of our patients have been told – as I was – that their case is hopeless or that removing their organs will “cure” them or that the only answer for the disease is found in an injection or pill. There is a better way, and there is always hope - so we encourage anyone struggling to reach out to us. Details can be found on our website at http://centerforendo.com, by calling our offices toll free at 866.733.5540 or emailing firstname.lastname@example.org.
Guest Chronic Illness Blog coming soon! Guests will be asked to provide information about their illness and must haves while experiencing pain and other symptoms.
Samantha Bowick, MPH is the author of "Living with Endometriosis: The Complete Guide to Risk Factors, Symptoms, and Treatment Options" and "Living with Alpha-1 Antitrypsin Deficiency" as well as a fellow sufferer of multiple chronic illnesses and patient advocate.Write something about yourself. No need to be fancy, just an overview.