How Many Times Have You Been to the Hospital
Most people who don’t have Small Fiber Autonomic Polyneuropathy have been to the hospital or the ER once maybe twice by the time they are 23. Usually, they are either just in the ER for a few hours for something like getting stitches, or a broken bone x-rayed, set, and casted.
Sometimes they may have a tooth that is hurting and needs antibiotics and pain control before they can get in with a dentist or oral surgeon. Other times it’s something more serious like a car accident or a heart issue. There may be a reason they went to the ER and got admitted for surgery, like appendicitis, or kidney stones that won’t pass on their own. Diabetics might get admitted for DKA.
The Search for the Underlying Diagnosis
At 23 years old I had been in the hospital way more than just once or twice. I had lost count of how many times I’d been in the hospital. From when I was ten years old in the year 2000 until now I have spent more time in the hospital than home. I grew up at Baystate Medical Center’s Children’s Hospital.
Now here I was at Mass General, hospital stay number 5,000,000 and we were searching for answers. We were trying to figure out what was causing all of my symptoms, and what underlying diagnosis could tie them all together.
Backed Up by the Complex Care Team
As soon as I had been evaluated by the doctors in the ER, I had been referred to the Complex Care Team. Dr, Thomas, Patricia, and occasionally Tanya, were my doctors from this team. The Complex Care team were doctors who took care of complicated patients with rare diseases. They were experts at diagnosing patients that were passed off by other doctors who just decided that because they couldn’t figure out a diagnosis “nothing is wrong with you, it must be psychosomatic”.
The way the Complex Care team worked was that whenever I was admitted to Mass General Dr. Thomas and Patricia or Tanya would be the doctors taking care of me. It wouldn’t matter what floor I was on or when I was admitted, they would always be my hospitalists.
Planning on a GJ Tube Placement
Dr. Thomas, Patrica, the specialists, a nurse, a social worker, a case manager, and my parents and I had a big meeting and we had decided that it made sense for them to go ahead and give me a GJ tube (my dad was still not on board with this plan but everyone else was).
A GJ tube is a tube that goes in through a surgically created hole in your abdominal wall, one part of the tube ends in the stomach, and then the other part ends in the small intestine. I was going to be able to hook the G port up to a drainage bag and drain out bile and air to cut down on nausea, reflux, and vomiting. It might even possibly allow me to drink sugar-free clear liquids. They would just immediately drain them out into the bag as soon as they exited my esophagus. I was going to put the tube feed through the J port.
I have Small Fiber Autonomic Polyneuropathy
One day, while we were waiting for the GJ tube placement, Dr. Thomas, Patricia, and a doctor from the nerve injury clinic surprised me with a visit. Dr. Thomas and Patricia had already been by earlier in the day, so I was confused.
“You ready for this?” Dr. Thomas asked me.
“For what?” I asked.
“To find out why you have all of your health issues.” Dr. Thomas told me.
For a second, I was so anxious I forgot to breathe, and Patricia had to remind me to inhale and exhale a few times.
“You have a positive test result of your skin punch biopsy. Based on all of your blood test results which show your ANA titer, and your autonomic testing like the tilt table test as well as the skin biopsy, we now know that you have Autoimmune Small Fiber Autonomic Polyneuropathy.”
“What does this mean?” I asked.
Learning about Small Fiber Autonomic Polyneuropathy
“That’s what I’m here to talk to you about,” the older doctor with the gray beard from the nerve injury clinic explained. “My name is Dr. Hurrowitz.” He held out his arm and shook my hand. “You have a form of autonomic neuropathy.” He informed me.
“What’s that?” I asked.
“Neuropathy is damage to nerves. Nerves run through our entire body, and their job is to communicate messages from the brain to the rest of the body to make the body function. They connect the brain to the body and then to the world,” he explained to me.
‘So, my nerves don’t work, right?” I asked.
“Right,” he told me.
“The type of neuropathy you have is a polyneuropathy where the damage to the nerves is widespread through the body. You have a small fiber polyneuropathy, so your small fiber nerves are damaged.”
Types of Neuropathies: I have Autoimmune Small Fiber Autonomic Polyneuropathy
“Small fiber?” I asked.
“Yeah, we call them “small fiber,” because they’re smaller in diameter. We know a lot about large fiber neuropathy, but we know much less when it’s the small fiber nerves that are affected. Nerves can be autonomic, sensory, or motor. In your case, all three types of nerves are affected.
The autonomic nerve damage is what’s causing your unconscious nervous system to malfunction and make you so sick. You also have sensory nerve damage which is causing your widespread chronic pain.” He explained. “The motor system damage is what’s keeping you wheelchair bound.
“What causes this?” I asked.
“It’s an autoimmune disease which means it’s caused by your immune system attacking itself,” he answered.
Small Fiber Autonomic Polyneuropathy: A Hidden Disease
“Did this also cause the brain tumor?” I asked.
“The brain tumor was just bad luck.” Dr. Hurrowitz informed me, shaking his head slightly.
“But why did it take so long to diagnose?” I asked.
“Autoimmune Small Fiber Autonomic Polyneuropathy, or Small Fiber Autonomic Polyneuropathy as we call it for short, is an invisible disability. It doesn’t show up in scans. Most neuro exams done on people with Small Fiber Autonomic Polyneuropathy come back normal. Their reflexes are normal, and it’s not obvious as a specific disease in bloodwork.
EMGs we do to check large motor neuropathy that people are so much more aware of, come back normal because they won’t detect autonomic or sensory fibers. It’s so hard to detect that many people suffering from it get misdiagnosed as having psychosomatic symptoms.” He said.
The Symptoms of Small Fiber Autonomic Polyneuropathy
“So this is why I’ve been having all of these problems that everyone just wants to chock up to me being crazy?”
“This is exactly why. Small Fiber Autonomic Polyneuropathy is causing body-wide symptoms like abnormal blood vessels, A-fib, temperature instability, atelectasis, and your diaphragmatic weakness,” Dr. Hurrowitz began explaining.
I just sat there in bed in shock as he continued listing all the symptoms that this Autoimmune Small Fiber Autonomic Polyneuropathy was causing.
More Symptoms of Small Fiber Autonomic Polyneuropathy
“Your POTS which is causing the tachycardia and your fainting episodes are caused by this condition. It’s also the reason that your kidneys aren’t retaining electrolytes properly which is causing other issues with other heart arrhythmias. I’m noticing redness in your checks and dilation of your pupils, more symptoms caused by your disease. Do your eyes get very dry and make your vision blurry?”
Dr. Hurrowitz asked me.
I immediately nodded. It drove me nuts when I was trying to work on a writing project on my laptop or trying to read a book.
Dr. Hurrowitz just nodded.
“How about bruising, do you bruise easily?” he asked me.
I picked up one arm and then the other, they each had at least two bruises on them. Then I took the blankets off my legs so he could see the constellation of black and clues clustering down them.
“I thought so,” he said. “I’m going to ask you a weird question now, is that okay?”
“Uh, sure,” I said.
“Do you ever sweat?”
Whoever Thought Not Sweating Would Be a Problem
I was floored by that question, for the last six or seven years or so I had stopped sweating, it didn’t matter how hot it was outside, or how strenuously I was working out. My body would not sweat. Instead, I would turn bright red and get really hot and dizzy, and spike a fever. Now I understood, it was part of this Small Fiber Autonomic Polyneuropathy diagnosis.
Dr. Hurrowitz continued to explain how the lack of blood flow to my muscles from the disorder were making PT so hard. He also explained that the total digestive tract failure was due to the Small Fiber Autonomic Polyneuropathy.
The Neuropathy Part of Small Fiber Autonomic Polyneuropathy
Like Dr. Metta had been saying for over a year, my neurogenic bladder was caused by the Small Fiber Autonomic Polyneuropathy (which is a form of dysautonomia), and so was my brain fog.
My brain fog resulted from decreased blood flow to my brain. I also had a lack of blood flow to my muscles which was what was making physical therapy so difficult for me. Not to mention the pain and burning and pins and needles I got in my feet whenever they did touch the floor, which was rarely. That was from the neuropathy part of the Small Fiber Autonomic Polyneuropathy. So was the fact that my body was extremely tender to touch in some places. I also had to deal with a lot of cramping pain.
The Solid Medical Evidence of My Diagnosis
Dr. Thomas and Patricia brought up the fact that my body had trouble healing and that the bone scan they’d done on me had shown that I already had osteoporosis. I also had a chronically low white blood cell count and anemia so bad that I’d already required one transfusion and one iron infusion.
Dr. Hurrowitz pulled up my chart on the computer in the room for the nurses and saw that I had a crazy high C-reactive protein and Sed rate.
“It’s no wonder you are fatigued, your body is so full of inflammation and so low on reserves that it’s like fighting a losing battle that’s been drawn out for the last 15 years,” Dr. Hurrowitz told me.
“So basically, this Small Fiber Autonomic Polyneuropathy is what’s making me feel really sick and awful and exhausted.”
“Yup,” Dr. Hurrowitz told me.
Why Did it Have to Take 15 Years to Diagnose Me?
“I’ve been sick since I was eight though, I can’t believe it took 15 years to diagnose me.”
“It’s frustrating isn’t it?” Agreed Dr. Hurrowitz. A lot of patients with Autonomic Small Fiber Polyneuropathy end up with multi-system issues so they go to all different doctors for all different systems and no one ties everything together by looking at the body as a whole.”
“That’s pretty much what happened to me,” I agreed.
” The only way to really determine if someone has Small Fiber Neuropathy is through the skin punch biopsy we performed on your lower left leg. Other tests to check autonomic function like the Tilt Table Test we did on you, or a sweat test can show autonomic dysfunction/dysautonomia, but won’t show the cause of it. Dr. Oaklander is the doctor that discovered SFN and she’s my boss. She’s the head of the Nerve Injury Unit here at Mass General. “
“That’s so cool that my GI doctor sent me here specifically then,” I said.
Causes of Small Fiber Autonomic Polyneuropathy
“It really is,” agreed Dr. Hurrowitz, “We’ve recently realized that SFN affects kids more than was originally assumed, which is why we think all of your symptoms that started with the fatigue at age eight, were due to this Autoimmune SFN. Ideally, we would have wanted to start your treatment back then before it had a chance to progress to the severe case you have now.”
“What causes this?” I asked.
“SFN can have a laundry list of causes. We did bloodwork on you to figure out the cause and determined that yours is autoimmune. Other causes are exposure to toxic chemicals, high B6 levels, prolonged high blood sugars like in diabetes, Lyme disease, medication reactions, and more.”
Treatment for Small Fiber Autonomic Polyneuropathy
“How do we fix it?” I asked.
“This disease doesn’t always get better. In many cases, it’s degenerative, but the main treatment for Autoimmune-mediated Small Fiber Autonomic Polyneuropathy is immunotherapy. We can use something called IVIG, which is a blood product made up of immune cells of 1,000 to 10,000 different donors. It goes in intravenously. Once you’re more stable and get followed by our nerve injury team, we can start you on an outpatient IVIG protocol.
In the meantime, we’ll prescribe gabapentin and liquid Morphine through your J tube for the nerve pain, keep you on high amounts of electrolyte infused IV fluid, keep having you do PT and we’ll manage each body system’s failures by treating symptomatically.”
“Do you think the IVIG will work for me?” I asked.
Is Small Fiber Autonomic Polyneuropathy Life Threatening?
“As I said, It’s not a guaranteed win though, although it works for many people and is really one of only a few things we can do for you.” Dr. Hurrowitz explained.
“Can this disease kill me?” I asked.
“The disease itself can’t kill you, but the complications from your autonomic dysfunction symptoms could kill you. I have to be honest with you. Based on our observations of you and best knowledge we believe that without treatment, you would keep getting sicker.” He answered.
My heart jumped from my chest into my gut, but a big part of me had already known the answer to that question.
Informing my Parents of My Life Changing Diagnosis
“I will get updates from the Complex Care team while you’re in the hospital, and when you go home, I will be the neurologist that follows you. I’m in the Wang Building on the eighth floor.”
“Do my parents know?” I asked.
“I called them,” Dr. Thomas assured me.
“What did they say?” I asked.
“Your mom said she felt a little shaken up but is glad that we have a diagnosis now.” He told me.
“What did my dad say?” I asked, scared to hear the answer.
“That he thinks the lab made a mistake or that you found out a way to skew the test. I told him that the lab is too careful with skin punch biopsies. Then I explained to him that even if they did make a mistake, you have had all of the symptoms of the disease since early childhood and they match up perfectly with the diagnosis. Besides, ” I told him, “you can’t skew results of a skin biopsy that a highly trained neurologist performed and sent to the top lab in the country for diagnosing SFN.”
A Dad Still in Denial
“Did he believe you?” I asked Dr. Thomas.
“I don’t think so, but your mom is on board with us and with the fact that you need that GJ tube and Port. With this disease, you have a long road ahead of you and probably won’t be able to eat again. “
In the back of my head, I had really known that, but hearing those words spoken aloud made it seem so much more final. No more ice cream, no more french fries, no more pizza with black olives, no more vanilla cake with whipped vanilla frosting. I had zoned out for a moment while Dr. Thomas was talking. Torturing myself by thinking about all of my favorite foods that I would never eat again, came first.
It’s Time For a Central Line
“There’s a good chance that with flare-ups, you may occasionally or permanently need IV nutrition called TPN as well. We probably won’t be able to get you off of the central line, especially if you get IVIG, which requires frequent IV access. You have no good veins left, so we won’t be able to get IVs as frequently as needed for IVIG. With any form of autonomic neuropathy, pushing fluids and sodium is important. ” Dr. Thomas continued talking to me.
“Is this bad news day or something?” I asked him.
Dr. Thomas was so serious, but he cracked a smile before he continued his speech.
“With your symptoms of gastroparesis, you wouldn’t be able to tolerate the amount of fluid and salt and electrolytes needed to be ingested orally to keep you healthy.”
“Yeah, I probably couldn’t,” I sighed.
I See a Port-a-Cath in My Future
“Lastly, you will need many labs to monitor your electrolytes. With your veins, all used up and scarred; there would be no way to administer fluids and draw your blood as frequently as necessary without some type of central line.” Dr. Thomas explained to me.
“So, this PICC line will just stay there?” I asked.
“We’ll probably end up putting something called a Port-a-Cath in.” Dr. Thomas told me.
“What’s that?” I asked.
How Does a Port-A-Cath Work?
“It’s a little device we implant in a surgically created pocket in your chest. The catheter attaches to the device, and we would place it into the same spot your PICC line ends, in your superior vena cava (the large vein that feeds the heart). The device has a special surface so that we can insert a needle called a Huber needle into your skin in your chest and puncture the surface to get access to the central line.”
“Will that hurt?” I asked.
“Most people say they barely feel it, other people like to put a special numbing cream called EMLA on it 30 minutes before putting the needle it. That way they don’t feel the stick at all.” Dr. Thomas explained.
“I think I might want to use the EMLA cream the first few times,” I told him.
The Magic of the Port-A-Cath
“That would be totally fine. Anyway, the way it works is that the needle has tubing attached to it, and we can then hook fluids, IVIG, TPN, IV medications, and blood draw equipment up to the external tubing, and it will work just like the PICC line. The cool thing about a Port is that once we finish with the infusion or blood draw we can take the needle and external tubing out, and your skin will be covering the device so all anyone looking at you will see is a small bump under your skin on your chest where the device sits. ” Dr. Thomas explained
“Hey, that is really cool,” I agreed.
“Yeah, this will allow you to go swimming, take showers, and do other activities without worrying about your line getting infected, pulled, or in the way.” Dr. Thomas said to me.
Feeling Overwhelmed by the Medical World of my Life
“So, I’ll have the GJ tube in my stomach, the port in my chest, and have to wear oxygen every night?” I asked.
“I know this is hard, but hopefully, we can get you to the point where you feel less overwhelmed.” Dr. Thomas patted my shoulder before he and Dr. Hurrowitz left.
My first instinct was to call my best friends, but they weren’t talking to me as much; lately, and had stopped commenting on my posts on Facebook as often as well. My mom and I had talked and realized that chronic, life-threatening illnesses could be too much to handle, even for best friends. I hugged the build-a-bear bunny we had made together and cried.
My New Normal
This was going to be my new normal. It was a life filled with tubes and bags and pumps and worrying about whether or not I was going to live. While I knew I’d been sick my whole life, having such a severe diagnosis was scary.
After I had a good cry and blew my nose, I called the only safety net I had left, my mom. She reassured me that I was the strongest person she knew and that I would somehow find a way to move forward.
“At least we know the monster’s name now,” I agreed.
“And there are treatments that sometimes work. I read that a treatment called plasmapheresis is another thing they can try if the IVIG doesn’t work.” She added before promising she would be up the following day to visit me and take me to get a new art project from the gift shop to keep me distracted from the mess my life had become.