- CASE FILE
Breathing trouble for about 20 years. Numerous doctors and tests that all come back normal/negative. Doctors can’t figure out what is wrong.
ABOUT THIS CASE FILE
I have seen a few pulmonologist for breathing issues, they think it’s asthma, but test rule that out. I have been tested for thyroid, COPD, emphysema, and asthma all are normal. I have been on multiple inhalers and they don’t work, most increase my heart rate and puts me at risk for going into A FIB.
I am hoping to find an answer on why I’m having trouble breathing. I fight the struggle everyday, and I’ll continue to fight, but getting some help would be wonderful
I also have a rare deformity on the chest wall called Pectus Excavatum. I had a titanium bar put in my chest to keep the chest bone up in place (it was pushing on my heart and lungs, not allowing the organs to grow properly). I was in an accident the bar came loose, and doctors over look the option of putting the bar back in.
Some times I can get dizzy, but usually just short of breath. If I go walking, I struggle to breathe more.
I do have some heart issues as well, mitral valve prolapse and A FIB. Both are under control and don’t play a part to the trouble breathing.
Here is my life story:My life
By: Amber Williams
My life so far has been a journey to say the least. Like everyone else, I’ve had my share of ups and downs. I would say I’ve had more downs then ups, and it definitely has been a rocky road, but I am a fighter and I won’t give up no matter how rough it gets.
It all started in high school when I was active in band and sports. I would experience shortness of breath very easily and I would have dizzy spells. After I would finish performing the half time show with the band and as soon as we made it close to our seats, I would have to lie on the ground on my back with my knees bent for a few minutes to catch my breath and to relax. During my track meets, I would have to push myself to cross the finish line, no matter how weak I felt. I never gave up and I learned to fight through the pain and struggles.
After a number of different doctors, tests, and a lot of medicines, I was diagnosed with a condition that occurs in 1 in 150 people. The condition is called Pectus Excavatum. Pectus Excavatum is also know as hollowed chest, sunken chest syndrome, cobblers chest or funnel chest. Pectus Excavatum can impair cardiac and respiratory functions and can cause pain in the chest and back. So basically, my sternum and chest wall has been pushing down on my heart and lungs for 17 years.
In severe cases the right atrium may be compressed, mitral valve prolapse may be present, and physical capability may be limited due to base lung capacity being decreased. In my case, my chest wall was so indented, I was able to make a fist and when placed into the gap my knuckles would be even with the chest wall, so my case was considered severe. I had a procedure known as Nuss procedure. This involves inserting a steel bar under the sternum to flip the sternum up.
Durning this procedure the doctors had to cut open my chest about 4 inches and break my ribs, then they had to scrape out cartilage to allow the bar enough space to do the job. This procedure typically last 5-6 hours, mine lasted 8 hours. Surgical correction of Pectus Excavatum has been shown to significantly improve cardiovascular function and might also improve pulmonary function. After this procedure, I remember being so sore and the healing time was about 1 month. After the procedure, I noticed a change in my health I was able to breathe normal without any trouble. I was able to finish the band shows and track meets easier than before the procedure. I felt like a normal person for once, and not someone with a rare medical diagnosis, that was hard to diagnosis in the first place.
Let’s skip ahead about 6 months. My sister was driving and showing me how to get to a competition the next day, when we hit a patch of black ice and lost control of the car. The car spun 180* on the road then hit a ditch and the car rolled 3 complete times and landed in the middle of a field. We both walked away from the accident with just a few scrapes and scratches on our hands and the top of our heads from the glass shattering everywhere. How we both made it out safe and alive is through Gods miracle.
After the accident, I still made it to competition the next day and scored superior in all 5 of my performances. A few months after the accident, the bar began to detach from the screws and was poking against the top left part of my chest creating a knot. The doctors were able to remove the bar but leave the screws by making two small incisions, one under each armpit. During this procedure, the doctors noticed I had a heart murmur that they didn’t hear before. It was a small murmur, so we left it alone.
Let’s skip ahead a few months. The same symptoms came back, shortness of breath and chest pain. More doctors appointments and more tests: EKG, ECHOS, PFT, and chest x-rays. Eventually, I was diagnosed with asthma and put on inhalers. I was on a few different inhalers off and on trying to find something that would help me. Over about 4 years, I was on six different inhalers and doctors kept going back and forth deciding if I really had asthma or not.
Let’s skip ahead a few years to 2009. I just graduated college and bouncing back and forth with health issues. I switched primary doctors in September and he ran some more tests, but this time he found something. I was sent to see a cardiologist and he ran some tests and found out I had mitral valve prolapse and that my valve was leaking. In December 2009, I remember getting a phone call from the doctor while I was at work. The doctor said I would have to have surgery very soon to fix the leak, sooner than later and the doctor asked me how soon I wanted to get the surgery. I remember telling them “never” because this was all new to me and I was really scared. The doctor said “how about February”, I replied “I guess that’s ok, if I have to”.
Mitral valve prolapse is a condition in which the two valve flaps of the mitral valve do not close smoothly or evenly, but instead bulge (prolapse) upward into the left atrium. Mitral valve prolapse is also known as click-murmur syndrome, Barlow's syndrome or floppy valve syndrome. In severe cases complications include mitral valve regurgitation, infective endocarditis, congestive heart failure, and in rare circumstances cardiac arrest. This means the mitral valve prolapse was leaking and allowing blood to flow back through the mitral valve with each heart beat. In rare instances, when mitral valve prolapse is associated with mitral regurgitation, mitral valve repair or surgical replacement may be necessary. Luckily, my doctor caught this in time.
On February 8, 2010, I had my first heart surgery to repair the mitral valve. The surgeon said he almost had to replace the valve, but he was able to fix the issue without putting me on blood thinners. During this procedure the doctor had to cut open my chest by making a new start and continuing down the old scar. He placed a ring around the valve to stop the leak. This surgery took 5 hours. Let’s skip ahead 5 years to December 2015. I had just got home from work and sat down on the couch feeling weird, my heart rate was fast and irregular and my chest was hurting, so I went to the emergency room where they ran some tests and I was admitted with Atrial fibrillation.
Atrial fibrillation or flutter is a common type of abnormal heart beat, the heart rhythm is fast and most of the time irregular. Atrial fibrillation (AFib) is an abnormal heart rhythm characterized by rapid and irregular beating of the atria. Often starts as brief periods of abnormal beating which become longer and possibly constant over time. Often episodes have no symptoms. Occasionally there may be heart palpitations, fainting, lightheaded ness.shortness of breath, or chest pain. This disease is associated with an increased risk of heart failure, dementia, and stroke. As a result, the heart can not pump enough blood to meet the body’s needs.
I was on a few different heart medications and a low dose baby aspirin since the heart surgery in 2010. The doctors tried to increase the dosage of medication I was on, but that didn’t work. I was still in AFib and the pain was unbearable, I couldn’t get comfortable no matter what I did. After being in pain and still in AFib for two days I was moved to Cardiac ICU so they would be able to control my heart better.
I was so scared when I was told I was being moved to Cardiac ICU, because I knew that meant something serious was happening with my heart, and I didn’t know what the outcome was going to be. I had a lot of people at the hospital with me trying to calm me down and reassuring me that everything was going to be ok. I had a hard time seeing how everyone knew I would be okay, but the doctors couldn’t fix my heart rate without moving me.
The doctors gave me more medicine to control my heart rate while in Cardiac ICU, and nothing was working. On day 2 of being in the Cardiac ICU the doctor decided he was going to do a cardio version. Cardio version treatment is used to get the heart rate back into a normal rhythm right away. There are two options for treatment, the first is electric shocks to your heart and the second is drugs given through a vein. The treatment I had was the shock to the heart. The doctors had to caridovert me twice to get my heart rate back to normal rhythm. I was able to come home two days later on Christmas Eve (I kept praying and was determined to be home for Christmas).
On January 20, 2016, I was back in the hospital with AFib again, the cardio version didn’t hold. Once again the doctors increased my heart medication, this time it worked and I was back in normal rhythm rather quickly. I remained in the hospital for three days, while I was waiting on a bed in University Hospital in Cleveland where they are trained to work on younger patients and to perform a procedure called cardiac ablation.
Cardiac ablation is a procedure that is used to scar small areas in your heart that might be involved in your heart rhythm problems. This procedure can prevent the abnormal electrical signals or rhythms from moving through the heart. There are two methods of performing cardiac ablation, the first is heat energy and the second is cold temperatures. During this procedure, small wires are placed inside your heart to measure your hearts electrical activity. When the source of the problem is found, the tissue causing the problem is destroyed. I had the heat, where the doctors went into the heart and burned away bad scar tissue from my previous surgery.
Once I made it to Cleveland I had to wait two days (because of the weekend) to get placed on the schedule for the ablation. While I was in pre-op on Monday, the doctor came in and said they couldn’t fully put me to sleep because the anesthesiologist had left for the day, but they could put me in a twilight zone if I still wanted the procedure done. I agreed to the twilight zone. Once the doctor was in and messing with my nerves, he hit a nerve that provoked an AFib episode. I felt this episode even though I was sleeping. The doctor was able to back off the nerve and I was back in normal rhythm. The doctor closed up because it was worse and more complex than what he thought. I was sent home with a surgery date one month later to be put fully under.
February 19, 2016, I was scheduled for the cardiac ablation, the cardiac ablation was suppose to take 3-4 hours, mine took 6 hours and the doctor said there was a lot of scar tissue. He said he did not think he got all of the issues on the left side and he didn’t even cross to the right side where the mitral valve prolapse repair was done.
The next day I was put on a blood thinner and a new heart medicine and I was released and had to get my INR checked 1-2 times a week until we were able to get it in normal range. I was on all heart medicine and blood thinner until November 6, 2017 with no issues or complications and all of my test came out normal so the doctors felt it was safe for me to come off all my medications.
May 14, 2018, I was back in the emergency room with shortness of breath and coughing. The doctors at the hospital ran test and everything looked good. My chest x-Ray was normal and my oxygen level was good on room air, so they couldn’t figure out why I was struggling so hard to breath. I was given two breathing treatments with stronger medications than what I’m use to, that was the only thing that helped me to breath. I was sent home and told to follow up with my primary doctor. My doctor said it was allergies and put me on Zyrtec and an inhaler, he also ran test which all came back normal. Same issues in August and December 2018 also March 2019 same tests were repeated each time with normal results.
March 17, 2019, my heart rate was 146 and was pounding very strong and was painful. I followed up with my doctor and he ran more tests that came back normal once again. The doctor doesn’t think this episode was AFib because I was able to go back in normal rhythm so quickly on my own, but he definitely believes that something is going on..... but what??
I always have been a medical mystery and the doctors have a hard time figuring out what the issues I have are from. One day I will find a doctor who will have all of the answers. Until that day I continue to live my life one day at a time. With Christ as my rock, I can overcome this.
June 12, 2019 I saw a new specialist, who believes I have asthma. He ran a few test of his own and they came back normal or negative. The pulmonary function test showed a mild restrictive ventilatory defect with preserved diffusion capacity, in a pattern consistent with musculoskeletal limitation. I will know more about this situation when I go back to the doctors in July.
After seeing the pulmonologist, he is ordering the last test to rule out asthma. He is almost certain that this test will come back negative, but he’s not sure what can be causing my breathing issues. All of my tests have came back normal/negative or show no change in results. My lung volume is normal and my lungs are clear.
I will see the cardiologist in November.