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
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.