Spoonie Stories: Lisa Impey
My name is Lisa Impey and I am from a rural town in central Vermont. I am 38 years old, am married, and have an 8-year-old daughter. My story is not unlike the stories of many others who have walked the rare disease path. This is my story of how my rare illnesses were eventually found, diagnosed, and treated. Throughout it all I have had the cute designs from Spoonie Sister Shop to represent my journey.
About 2 years after the birth of my daughter Abbigail, I developed this strange pain in my upper abdomen.
It started as this slight twinge on the upper left side. The pain did not feel too terrible when it started, but at the time, it was more annoying than anything. Initially it felt like a mild side stitch, but it was in the wrong place. It was accompanied by nausea, and occasionally diarrhea. I was aware that many gallbladders fail after pregnancy. It did not make sense to me though, as this pain was on the left side, not on the right where the gallbladder sits adjacent to the liver.
I started out by making an appointment with my primary care doctor. She initially seemed concerned and sent me for lab work and an ultrasound of my abdomen. Everything came back normal. Since everything came back normal my primary care suggested to “lose weight” and try and eat healthier. At the time I was very overweight, and almost 300lbs, so ironically her suggestion made sense.
The pain continued, and I kept telling my medical team that I was having pain in my abdomen. They either brushed it under the rug, or said they were not sure what was going on. Since the pain was not too bad, I lived with it for a couple of years.
In 2020 the Covid pandemic hit and the world fell under a worldwide quarantine. I was working on an ambulance in Emergency Medical Services at the time, and the fear of the unknown with the virus was scary.
In November of 2020 I was admitted in Boston at Brigham and Women’s hospital. I had discovered, while working on the ambulance, that I was having low blood sugars, in the 40mg/dL range. They were attempting to figure out why I was having these low sugars. All of the local hospitals said that they were not sure why I was having these lows and told me to “eat more.” The lows were happening even when I did eat.
One night I was found very confused and almost unresponsive at home by a friend. When the ambulance transported, and I had testing at the hospital, it was found that I had severely low magnesium, potassium, and blood sugar. At the hospital when I was admitted, the hospitalist told me that “because I work in healthcare, and hypoglycemia in the absence of diabetes is rare, that I must be using someone else’s insulin to get attention.”
I was absolutely devastated by this comment.
As someone who had dedicated most of my adult life to teaching and practicing medicine, being treated that way when I just needed help seemed unfair.
I ended up traveling to Boston to get testing at Brigham and Women’s Hospital. The testing I had at Brigham and Women’s consisted of this terrible test, the 72 hour fast. It was exactly as bad as it sounds. I was given nothing except water for the 72 hours. The point of this test was to attempt to get my blood sugar to fall below 50mg/dL, so that they could draw blood when it was low. They were checking to see if I was making too much insulin, which would show that I had an insulinoma. Insulinomas are very rare, but having low blood sugars, without being diabetic, are also incredibly rare.
Ultimately, after being admitted for 6 days the doctors there concluded that my lows were probably normal, and that they could not find a cause for them. I also vividly remember telling them about the left sided abdominal pain that never had gone away. Most of the staff that I told this to while admitted said that they did not know where the pain was coming from, and did not think that it was related.
After being admitted in Boston, I thought for sure that they would be able to figure out what was wrong with me and to fix it. Boston has some of the best hospitals in the world, if they couldn’t figure it out, I didn’t know who would.
Because of the pandemic, my husband Scott was not able to stay anywhere in Boston, or even visit me while I was there. He came to pick me up at the hospital and we made the 3 hour drive back to our home in Vermont. I was feeling deflated. I travelled all that way, had that awful test, and they didn’t figure out anything. I remember sobbing with Scott on the way home, frustrated that the medical system I had dedicated my life to, would let someone suffer like they had. I had pain and these frequent low blood sugars that they could not figure out.
I continued getting admitted to the hospital for various reasons. Once my blood sugar was low, along with multiple electrolytes. Another time I had severe pain and could not eat without making the pain worse. Another time I was throwing up so much I could not keep anything down. My mystery disease was not exactly a pleasant one.
From being so sick, I lost 70 pounds in a period of 6 months.
The pain I felt continued to increase until it travelled all the way across the upper part of my abdomen. It felt like a hot brick was in my abdomen all the time. When I ate the pain was horrible, and unrelentless. The pain by itself made me not want to eat anymore. It was accompanied by low blood sugars, nausea, vomiting, and diarrhea.
I saw SO many doctors. I felt at some times that I was singlehandedly keeping our local hospital and the further away teaching hospital, in business. I saw GI, immunology, endocrinology at multiple hospitals, and rheumatology. No one could figure out where the pain and the other symptoms were coming from. Some doctors diagnosed me as “fat” and “anxious.”
Although I knew that my Husband would always support me, I felt like he doubted that there was something wrong too. It was hard being carted to all different doctors, only to be told that they either didn’t know what was wrong or that, because they could not find a cause, it must be in my head.
Being chronically ill is a waiting game of symptoms, calling doctors, waiting for appointments, and hopefully getting answers. I think that most non chronically ill people expect when you are sick that doctors always know the answers and can help you immediately. That was what I thought before getting sick. That you can present to the first emergency room you find, and they can figure out exactly what was wrong.
Most of the time, even with a somewhat serious issue, you are still forced to wait for a specialist appointment. You might wait months to get to this appointment, and they may or may not be able to help you. Then the process starts again, and you wait for another specialist. Unfortunately for the people who get illnesses that are rare, we often are brushed aside instead of getting the help we need.
I decided at that point to take matters into my own hands. No one was going to advocate for me, except myself.
As a paramedic, I had a little bit of medical knowledge. Obviously not as much as the doctors in charge of my care did, but I figured that I could research as much as possible and attempt to find the cause of my weird array of symptoms anyway. They presented like GI issues, but I had had almost every GI test that my doctors could think of, and they all were normal or were found to not be the cause of my symptoms. I even had a tumor on my pancreas biopsied, and it was determined to be benign pancreas tissue, and I was assured that it would not cause pain.
I turned to the internet. There must be others with the same symptoms as me.
The abdominal pain and symptoms strangely waxed and waned according to my monthly cycles. The pain and symptoms were always worse from ovulation until the end of my period. I ended up joining a Facebook group for people with undiagnosed cases of hypoglycemia, or low blood sugar. I took a breath and posted my story to the group. Within a couple of days I had multiple responses, one of which mentioned a thing called MALS.
I asked many questions about the signs and symptoms of MALS, and the original poster answered the best she could. Although she did not have MALS herself, she knew of others who had it, and knew of the symptoms. MALS or median arcuate ligament syndrome, is an ultra rare disorder of the anatomy. It is a birth defect that causes the diaphragm, the muscle that enables the lungs to suck in air, to be positioned too low. The diaphragm is a major muscle that controls breathing. In MALS the diaphragm cuts off blood supply to the abdomen anytime a patient breathes out.
It presents like a GI disorder, but is actually a vascular issue. Essentially, breathing out causes a similar feeling to a heart attack in the abdomen. The lack of blood flow also causes nausea, vomiting, and diarrhea. I researched MALS specialists near me, and was surprised when I was able to find a doctor in Connecticut. His name was Dr. Hsu. Dr. Hsu was one of the leaders on MALS research and treatment. I was grateful that I would not need to travel too far to get help with this weird syndrome, if that was even what I had after all.
I called the office and talked to Dr. Hsu’s receptionist Jennifer. She was so kind, and I remember chatting with her for almost half an hour about all the symptoms I had and how many doctors I had seen. She understood perfectly, and said that many of their patients saw a lot of doctors before being diagnosed. Jennifer was able to make me an in person appointment in a couple of weeks, I just had to bring along a copy of my CAT scan.
I attempted to wait patiently for my appointment. I wanted answers so badly. Not only did I not have answers yet, after almost 5 years of waiting, I also did not have any treatment options because I also didn’t have those answers. It is hard to get doctors to believe you when they cannot find a concrete cause of your pain.
Scott and I travelled to Connecticut the day before my appointment, as it was an almost 4 hour drive to get there. When you can’t eat much, without severe pain and GI symptoms, traveling is complicated and excruciating. Most people forget how food is the center piece of most festivities. Almost every holiday, birthday, and meeting with friends is accompanied by food and drink. Being unable to eat is very isolating, and you really only understand it if you have been through it yourself.
The two weeks went by and my appointment was finally coming up. Scott and I travelled to Connecticut, and stayed the night at an Airbnb. We drove the 5 minute distance to the office, and I went inside to the waiting room. Dr. Hsu’s office was a typical doctors office, complete with a drab waiting room and magazines that were a couple of months old. The walls were painted a light blue color, and I was easily the youngest person in the waiting room. I guess not too many younger people have vascular issues and need to see a vascular surgeon.
During the covid pandemic, each medical facility had their own rules about the utilization of masks, and if you were allowed to have a companion at appointments. Dr. Hsu’s office was no exception to the covid rules. There was a sign upon entering, that his office was opened to patients only. I wished that Scott could be there with me, but he had to stay in the car for the duration of my appointment because of the pandemic.
Finally, the nurse came out and called my name, “Lisa!” She said into the now empty waiting room. I got up and followed her into a back exam room, that had a doppler ultrasound machine next to the exam table. When I go to appointments, I like to research what they are looking for, so I understand the diagnostic process too. I knew that she was looking for elevated velocities in my arteries that branched off the aorta, the main supply of oxygenated blood to the body. The nurse completed the ultrasound, and while she was doing it, I wanted to ask her if she could see anything abnormal.
I felt that I must be nearing in on an answer to my years of suffering.
The ultrasound was incredibly painful, with the nurse needing to push right on the areas that caused me the most pain. The nurse was very sweet, and kept giving me breaks to recompose myself. After the ultrasound was complete, she led me into another exam room, and said, “Dr. Hsu will be right in to talk to you.” I sat, waiting in the uncomfortable exam room for the doctor who would hopefully know what was wrong, or at least point me in the right direction.
The doctors that I saw locally told me that there were no longer any testing that they could do, because they believed that the cause of my symptoms was psychosomatic….. in other words, all in my head. I had spent so much time, energy, and money trying to find the cause of this mystery pain and symptoms. I wasn’t sure if I could physically and mentally continue the search for the culprit if Dr. Hsu did not know what to do.
There was an abrupt knock at the door, and he walked into the exam room.
Dr. Hsu is a tall, slender Asian man, with a matter-of-fact personality. He is very good at what he does, and I understood that he treats many patients who have been through the medical system wringer. He is the doctor that many of us in the chronic illness community need. That one doctor who is willing to fight for you, and figure out what is wrong so that they can help.
“Hello. I’m Dr. Hsu.” He said introducing himself. “Let’s talk about median arcuate ligament syndrome. MALS is a congenital issue of the diaphragm, where it is situated too low in the body. In MALS the diaphragm lowers when exhaling, and cuts off both blood and nerve supply to the abdomen. MALS is an issue with the celiac plexus nerves, and the compression of those. This causes the pain felt with MALS. When patients eat, it causes the stomach to distend, pushing on those nerves. Since these nerves also control passive digestion, there are a lot of other symptoms that are associated with a compression of the celiac plexus. MALS is diagnosed by seeing a low-lying diaphragm on a CAT scan, by having greater then 200cm/s velocities on a doppler ultrasound in the celiac artery, and lastly by having a celiac plexus block. The celiac plexus block is a procedure that is done in the hospital under sedation to numb those nerves. The block is considered successful if it relieves your pain, and you can eat. MALS is treated with surgery. I use an open approach, because it is more successful than a laparotomy. The surgery requires a stay in the hospital, and after being discharged I want my patients to stay in Connecticut for 3 weeks to ensure that any potential complications are adequately taken care of. May I evaluate where your pain is?”
I pulled up my shirt and Dr. Hsu assessed my abdomen, palpating each quadrant. He palpated over the center of my upper abdomen and the familiar pain increased.
Dr. Hsu continued after his assessment, “I have reviewed the CAT scan that you brought, and you do have a low-lying diaphragm. The doppler ultrasound, that we did in office, showed that the velocities in the celiac artery are greater than 200cm/s, both when you are inhaling and when you are exhaling. This indicates a potential compression of the celiac artery. The next step is to have a celiac plexus block, which Jennifer will help schedule you for. Do you have any questions for me?”
I could feel the tears welling in my eyes.
Dr. Hsu was convinced that I had MALS.
From my research MALS was so rare, that it did not have a diagnostic code for insurance billing until 2018. I couldn’t believe that I may have finally found the answer, after searching for years! I wanted to hug this doctor I just met, although he didn’t seem like a hugger.
“I also have low blood sugars, could that be related to MALS?” I asked. “Yes, many of my patients have low blood sugars from malnutrition.” He answered. “As long as your GI has looked at your pancreas and concluded that your pain is not coming from there.”
I told Dr. Hsu which testing I had already completed. The only additional tests that he wanted me do before having the block was a HIDA scan and a gastric emptying study. MALS is a diagnosis of exclusion, meaning that you must ensure that there is not another more common ailment that is causing the pain. I completed both of those tests, and of course they both came back normal.
I saw Dr. Hsu for the first time in January of 2021. Dr. Hsu has his medical office in Danbury, CT but completes his operations at Stamford Hospital in Stamford, CT. Dr. Hsu originally gave me the option to get the celiac plexus block close to home. Celiac plexus blocks were originally developed to treat the pain from pancreatic cancer, and pancreatitis. Historically, most patients who get a block are nearing the end of life and are looking for a pain management option.
When looking for a local provider to do the block, I only ran into red lights. At my local teaching hospital, they only would permit the block for end stage pancreatic cancer patients. They downright refused for an otherwise “healthy” 35 year old, because they said that the block was too risky. Even though Dr. Hsu knew I needed to complete the block, as the main diagnostic test for MALS, I couldn’t force my local doctors to do anything they were not comfortable with.
Ultimately, I decided that I would have to travel to Connecticut to complete the block to finish testing for MALS. The block was on a Wednesday, so I planned to travel to CT on a Tuesday and stay until Thursday morning. My wonderful friend Becca was going with me to be my driver for the block. She knew that she would have to drive me after the procedure, as I would not be able to drive myself. We also decided that, even though I had to be in Connecticut for a medical procedure, we could still go and have a bit of fun together.
Becca and I stayed in Danbury, CT the night before my block. I had to be at Stamford Hospital at 9am, and it was an hour drive to get there. Becca and I made the drive chatting about the weather (it was 70 degrees in March!) and listening to music. Secretly I was very anxious for this procedure. Not only was I worried about the procedure being painful, but I was also worried that the block would not work, and I would again be stuck in that undiagnosed limbo. Unable to get any help because there was “nothing wrong.”
Stamford was one of the bigger hospitals that I had had ever received care at. When we went inside, we had to get our pictures taken for an ID, and after sticking the ID sticker to ourselves we attempted to find where I had to go for my block. It took a couple of different staff giving us directions, and finally a nurse to escort us to the waiting area. In the waiting area there were fireplaces, which seemed strange for a hospital, but in a good way. It felt comfortable, like a cozy cabin in the winter.
Becca and I were escorted back to the staging area, where the hospital staff were going to prepare me for the procedure. A nurse with black hair came into the room and introduced herself as Connie. Then the interventional radiologist came in to talk to me while Connie was starting and IV. “Hello,” The Doctor said, “My name is Dr. Byrns and I am going to be doing your celiac plexus block today. Hopefully we can get you eating without pain. We are going to use the posterior approach, so we will have you laying on your stomach for the procedure. Do you have any questions?”
“So I should order some food so that I can test out the block right?” I asked. “Yes, the nurse will give you the menu so that you can order what you want.” Dr. Byrns said. Connie gave me the menu. I ended up ordering tacos, and a grilled cheese. Anything I ate and drank caused severe pain, even water, so I knew that the items I ordered would be a good test to see if the block worked. I also ordered a soda, as I could not drink anything carbonated at all without vomiting and having the severe pain.
The interventional radiology room was ready, and it was time to get the block. A celiac plexus block is a procedure where they inject numbing medication into the celiac plexus nerves that follow the aorta through the diaphragm. They use long needles to enter the back, on either side of the spine, to inject the medication in the right place. These nerves were the ones that are responsible for MALS pain, and when injected with the numbing medication it would be a test to see if those nerves were indeed causing my pain and symptoms. After the block, if it was successful, I should be able to eat and drink without pain. I’m not much of a praying person, but I said a small prayer that this was the answer I needed, and I could get help.
Dr. Byrnes and Connie came into the room. They directed Becca back to the outer waiting room and said that they would get her when the procedure was completed. They said that it would take about an hour. Connie wheeled my hospital bed back to the procedure room. In the procedure room there was another bed, and a CAT scan machine. The needles would be guided by the measurements taken from the CAT scan. Connie and Dr. Byrns helped me get onto the CAT scan table, and lay on my stomach. It took a long time for them to get into the right position.
I kept feeling little pokes on my back where they put markers to mark the position they were in before I went back in the CAT scan to check the position of the markers. Thankfully I was sedated a little bit for the procedure. I remember the entire thing, but felt groggy. “Okay,” Dr. Byrns said, “We are ready to inject the medication now.” “All right.” I replied. The needles entering my back and going into the celiac plexus where horribly painful. I moaned, and cried out, but the pain did not last long.
Replacing the pain was another sensation that I had never felt before.
“How are you doing, Lisa?” Dr. Byrns asked. “I don’t know.” I replied. “I feel weird.” There was this sensation that felt like an emptiness, like my body telling me that I needed to eat something. It wasn’t particularly unpleasant, but more annoying than anything.
I described the sensations that I was feeling to Dr. Byrns, and to my surprise he laughed. “What you are feeling is hunger.” He said still chuckling. “Most of our MALS patients forget what hunger feels like because they are so used to pain all the time. This pain overpowers the feeling of hunger.” They wheeled me back to the recovery room, and waiting for me was my arrangement of food, and the Coke I had ordered. Connie went to get Becca, so that she could be with me.
For the first time, since I had my daughter Abbigail, I did not feel that horrible pain.
It was glorious.
When you are unable to eat without pain, something as simple as feeling hunger and being able to comfortably eat, is something I will never take for granted.
Becca came back into the room behind the nurse. I had not started eating yet but was excited to try. I picked up the taco, took a bite, chewed and swallowed. It wasn’t the most spectacular taco I had ever had, but I just wanted to keep eating everything. Usually when I ate, my pain started immediately after the first bite. So far, I felt nothing except the slight easing of my newfound hunger.
I grabbed the coke, popping the top. It tasted so good I chugged it and asked for another one. I ended up eating the taco, the grilled cheese, an apple, 4 cokes, and a bottle of water. I might have overdone it a little bit, but after being unable to eat comfortably, it was amazing to have a meal and feel good after it!
I was now feeling another sensation that I did not recognize. It felt like a pressure in my stomach. “I have never seen you drink a soda, let alone four of them in one setting.” Becca said laughing.
Dr. Byrns had come back into the room to see how I was feeling after eating everything. “How are you feeling?” He asked. “I’m doing great!” I said, “I have no pain, but I’m feeling this pressure sensation now after eating.” Dr. Byrns chuckled again, and informed me that I was feeling full. I had never felt the feeling of being full either, only pain. It seemed astonishing that I could get to 34 years old without ever feeling true hunger or fullness. I thought that “hunger” was a gross tired feeling, and full was painful. The sensations of hunger and fullness are not exactly something that people talk about and compare their sensations. I was born with MALS, so I had never had the opportunity to feel normal feelings relating to eating.
After the block I immediately had an appointment with Dr. Hsu to let him know how the block went, as well as to discuss the next steps now that I finally had a diagnosis.
I had MALS!
It’s strange, you never want something to be wrong with your body, but when you are in the situation that I was a diagnosis feels like a huge relief, because then there is finally treatment and the knowledge that I was not crazy all that time. Pain is the signal that there is something wrong with the body, MALS was just so rare that it took finding the right specialist to diagnose it.
Dr. Hsu told me that the only treatment for MALS was a huge open surgery. He said that he would have to move my organs out of the way to get to my spine, where the diaphragm was connected to the to it by the median arcuate ligament. Dr. Hsu would remove this ligament, and then remove the damaged nerves that were causing the pain. He said that with the surgery, once recovered, I should expect to feel the same as after the celiac plexus block, if not better. Dr. Hsu explained that the block was a temporary thing, whereas the surgery would be permanent, so the results from surgery are generally better.
Dr. Hsu did warn that, although his surgery had a 92% success rate, there was a population of people where the surgery did not work, and made them worse. I understood the potential complications and took the first surgery date that I could, June 17, 2021.
The surgery was more complicated than expected.
When Dr. Hsu opened me up, the celiac plexus and surrounding area was covered in scar tissue, even though I had never had surgery in that region. A surgery that was supposed to take about 2.5 hours ended up taking almost 5 hours. I will forever be grateful for Dr. Hsu and his team. When I woke up in recovery, my incision felt like a burn, but the MALS pain that I had felt for so long was gone and I was finally able to eat without pain for the first time in my life.
After I had my surgery with Dr. Hsu, he encouraged me to get genetic testing. MALS was very rare, but a lot of people who had MALS also have an underlying connective tissue disorder that had predisposed them to the condition. Since I had a lot of scar tissue, for no reason that I knew of, Dr. Hsu suspected that I might have an undiagnosed connective tissue disorder.
That being said, I wasn’t convinced that I had anything like that. How could I get to 35 years old without anyone ever suggesting that I had something systemically wrong with my body? With any rare conditions, most of the time you must travel to get adequate care. This was no exception.
Ironically a friend of mine was diagnosed with a connective tissue disorder, so I asked her where she went to get assessed for it. She told me that she saw Dr. Milunsky at the Center for Human Genetics in Boston and that she felt that I would like Dr. Milunsky, as he was very thorough. One thing that was helpful about the Covid pandemic, was that it freed up a lot of doctors that normally were completely booked. At the time, because of the pandemic, you were not supposed to cross state lines, apart from travelling for medical care. I was able to make an appointment with Dr. Milunksy within the month.
Dr. Milunksy’s office is in Cambridge, right next to a park and a Whole Foods. With the pandemic happening, it turned out that his office was in a perfect location. Scott and Abbi were able to get a bite to eat, and then go to the park while I was in my appointment.
I did not envision how long my first appointment with Dr. Milunsky would be. Dr. Milunsky is a petite older man, with graying hair, a white lab coat, and an English accent from immigrating from South Africa. He would peer at me at my quizzically through his tiny wire framed glasses every time I said something he reported as “peculiar.” The appointment dragged on, for almost 3 hours, but I learned so much.
Dr. Milunsky is a connective tissue disorder expert, has written books on the importance of genetic diagnosis, and has published studies. His office was lined with books he had written on various genetic diseases. I could tell that first day that I met him that he was a doctor who truly cared about his patients. He started the appointment by going over my medical history, starting at birth. He was interested in the fact that I was born prematurely, and had a hernia present at birth.
When we got to my family history about my Paternal Aunt’s, I shared that most of my them had had their hips, and knees replaced, as young as 42 years old. “Does that seem odd that so many of your Aunt’s have such trouble with their joints?” He asked. “I just thought it ran in the family, and was normal.” I replied shrugging. “It is absolutely not normal.” He said, in a matter of fact tone. He was not saying it that way to be mean, he seemed just as frustrated as I was.
I shared about my lovely grandmother, who’s name I gave to Daughter as her middle name. When my grandmother had to have a surgery, at almost 80 years old, she was given a medication called Heparin. From what I remember, and what I have been told, Grandma ended up having a severe allergic reaction to the medication. The reaction caused her to have organ failure and her limbs started dying. Unfortunately, to save her life, she had to have both her left hand and multiple toes amputated. Of course, Grandma was left handed. Being without her dominant hand was hard, but Grandma was a fighter. She even learned how to write again with her non-dominant hand.
From my work as a paramedic I have give heparin to 1000s of people, with very few ever having any type of reaction to it. Grandma’s reaction to the medication was certainly not a common one. Dr. Milunksy asked if I had ever had allergic reactions, or strange reactions to medications or foods. I have multiple medication allergies, and some food allergies, but I also told him that I thought that was just part of life to be allergic to random things. Dr. Milunksy shook his head and continued.
Some of the questions he asked, took me completely by surprise and left me wondering what reasons he had to ask it. I assumed that he would enlighten me at the end of the appointment. “Do you like salt?” Dr. Milunsky asked. “Yeah, I do.” I said. “I probably eat way more then I should!” “You do not need to worry about eating too much salt, and for someone in your position you should never limit salt intake. I will get to why at the end of the appointment, after I do a physical examination.”
Dr. Milunsky brought me into a separate room and assessed how far I could bend various joints, looked in my mouth, and took the end of a ballpoint pen, scratching it along my skin of my forearm. As usual, I developed a raised, red mark on my skin where the scratch was. “What do you think of that?” Dr. Milunsky said, pointing to the mark on my forearm that was still there after completing his assessment. “Looks normal to me.” I said. Dr. Milunsky chuckled at my response.
I was amazed at his skill. Dr. Milunsky’s office was, and still is, the only medical office I have ever been into where the doctor physically drew my blood themselves. Anywhere else I have been to, a nurse or phlebotomist draws. It. When he missed my vein the first time, he apologized profusely. I told him that it was okay and he was not the first person to ever miss my veins. He told me that he felt bad, and did not like to make a habit out of missing. After the blood draw and physical exam he brought me back into his office.
Dr. Milunsky cleared his throat and started talking. “I suspect that you have a connective tissue disorder called hypermobile Ehlers Danlos Syndrome. There are 13 different types of Ehlers Danlos Syndromes with the hypermobile type being the most common. For now, diagnosis is clinically based, and the blood that I drew for you will rule out the other types of Ehlers Danlos Syndrome (EDS). There is research being done right now to isolate the gene responsible for hEDS. EDS happens due to a defect in the DNA, which alters the production of collagen. Taking collagen supplements will not help you, because your body would just continue to make the faulty collagen. I suspect that we can trace the origins of the syndrome to your paternal side, as it is obvious that some of your aunt’s have it. You meet the diagnostic criteria for hEDS, with hypermobile, stretchy joints, soft skin, stretchy skin, atrophic scarring, flat feet, a previous CSF leak, hernia at birth, piezogenic papules on heels, and being born prematurely.
I also suspect that you have mast cell activation syndrome. The scratch mark that I made on your arm is called dermatographia and is a sign of MCAS. It is common for MCAS to occur with hEDS due to mast cells also being mutated. Mast cells are part of the immune system and create responses to invaders. I suspect that your Grandmother had Ehlers Danlos and MCAS. With MCAS some reactions can be severe, and life threatening, I will start you on some mast cell stabilizing medication to help those symptoms, and to prevent any serious reactions.
The reason why I asked you if you liked salt was to assess for autonomic dysfunction. Most people with EDS also have something called postural orthostatic tachycardia syndrome. Everything in the body is constructed of connective tissue, including the vasculature, like veins and arteries. People with Ehlers Danlos will often report being dizzy, lightheaded, and fainting. This is from the blood vessels inappropriately dilating or constricting. Eating a diet very high in sodium is a way to naturally raise the blood pressure to mitigate the effect of the autonomic dysfunction.
I also want to test you for cystic fibrosis. With your history of severe pneumonia, and a pancreatic cyst, I think it would be a good idea just to rule it out. I also need to see your daughter to assess her.”
I was blown away.
I went into this appointment fully expecting to be told that nothing was wrong with me. I was not prepared to be diagnosed with all these new illnesses, and having the added worry that I might have unknowingly given my daughter this genetic disease. All the things that I thought were normal, were not.
When you have a genetic disease, which is not glaringly obvious from looking at me, other members of your family likely have the disease as well. Having dermatographia, or skin writing, seemed normal because my Dad and brother could also do it. I had never thought about that fact that we all likely share the same genetic disease.
Growing up I was a competitive athlete. I did cross country running, swimming, track, snowboarding, and tennis. Playing contact sports and running competitively was probably two of the worst things that I could have done to my body and my joints. I have early onset arthritis in the majority of my joints, and can frequently dislocate all of my joints. Even my pelvis, ribs, and sternum can dislocate. Though I am used to it, my dislocating joints are just as painful as a normal person dislocating their joints. It just happens daily for me. I think that the difference is that I can usually self-manipulate my joints back into the right positions, where normal people are not used to being able to do that.
I’ve found that Representation and not feeling alone is important. Being disabled is the only minority group that you can enter at any time. Although it hard to think about, everyone is only one accident or illness away from becoming disabled.
I had never considered that when I had gotten sick, that I may never get better. That once I got sick, I kept getting hit with blows that always kept me down in one way or another.
I have severe joint pain and fatigue. It eventually got so bad that I stated using a cane and a power chair. I had mixed feelings about all of this. Using a wheelchair and a cane was like putting glasses on for the first time. I did not know what I was missing, until I started using them. Both made my life so much easier. I think that is the thing about mobility aids. You do not understand why people need them, unless you need them yourself.
Just the other day, my Daughter said that she was happy I got a wheelchair so that I can go on walks with her. Before I got sick, I would bring Abbi on hikes with me. She always loved it. I had not realized how much she missed it until she said that to me.
After I had MALS surgery, it took about six months before I really felt recovered. Dr. Hsu had said that MALS surgery can take up to a year to recover from, so I felt lucky that I was able to recover and eat without that familiar pain.
After the surgery I still had that strange pain under the left side of my ribs. The MALS pain in the center of my abdomen was now gone, but the other pain on the left side remained. I assumed that the left sided pain was left over nerve pain from the nerves that Dr. Hsu had removed.
Almost exactly a year after I had my MALS surgery, I had just returned home from my new job as a 911 dispatcher. I was in my bathroom brushing my teeth after work. The left sided pain had been more annoying lately, but had not gotten too bad yet, so I had been ignoring it. I figured that if it was anything major it would get worse eventually.
That night, out of nowhere, I felt like someone was trying to forcefully rip my stomach out through my abdominal wall. It was like a combination between labor contractions, abdominal spasms, and MALS pain. The pain was focused on the left side but radiated to my left flank and left shoulder blade. The pain was so bad that I could no longer stand and laid on my bathroom floor.
It was completely incapacitating.
I vomited a couple of times and had diarrhea. I did not know what I had done with my cell phone, and it was 4am, so no one in my house was awake. Laying on my floor, in that much pain, I considered that this was how I was going to die.
Pain this bad must mean that there was something seriously wrong. I passed out from the pain.
After a couple of hours, the pain got slightly better, from a 10/10 to an 8/10. I was still in severe pain, but at least I was able to move. I drove myself the two miles to the local emergency room to get evaluated. I thought for sure, that my gallbladder or something major must be failing. I could not be in this much pain without something obvious going on.
When I got to the ER, I was brought back to a room, an IV was started and lab work was drawn. I waited patiently. The doctor also wanted me to get a CAT scan so that was completed. When everything was done, the doctor came back into the room and told me that “Everything was normal, so that I should follow up with my compression syndromes doctor.” Could this be MALS again? It felt like the pain I had felt form MALS, but much more severe. I wondered if MALS came back a second time, if the pain would be that worse.
The power of social media and support groups in the rare illness and disabled community is amazing. I have so many online friends who had similar illnesses to me. When you already live in a rural state, trying to explain rare issues to peers, and doctors can be exhausting. Most of the time, with rare illnesses, the person suffering from it must become the expert, to protect yourself. I can’t tell you how many times I have been to a doctor and they have blatantly googled my conditions in front of me. While I appreciate them doing research, I would prefer for them to do that before seeing me.
If you remember, the only reason that I was finally diagnosed with MALS was because a loverly woman on the internet suggested it to me. I reached out to my friends on the internet for help. There is a MALS facebook group for people who are in the process of diagnoses and treatment. I went to the group, described my symptoms, and asked for recommendations. I knew that I was first going to reach out to Dr. Hsu to make sure that MALS had not returned, and that my surgery was still working appropriately.
On the group, there were some ideas as to what could be going on. Many people commented and said that I should get checked for other vascular compression syndromes. Some asked I could have SIBO, which is an overgrowth of bacteria in the small intestine. I knew that I would likely need to travel to get adequate care again. I made an appointment with Dr. Hsu’s office and sent my most recent cat scan for review. Most of Dr. Hsu’s follow up care is completed by his nurse practitioner Suzie. I was able to make an appointment with her, that was only a couple of weeks out. Thankfully with the covid pandemic, it made it easier for a lot of offices to do telehealth visits. This visit was no exception.
I logged into the portal and waited for Suzie to also long on. Finally my ipad screen lit up, and it was time to begin the appointment. “Good morning.” Suzie said. “What can I help you with?” At that point my abdominal pain and other symptoms had been going on for about a month. “Well, about a month ago I started having this pain under my left ribs. It radiates to my back and left should blade.” I told her. “Do you have any other symptoms?” “Well when the pain is really bad I’ll have nausea, vomiting, bloating, and severe diarrhea.” I replied “Dr. Hsu and I have looked at your CAT scan and there is no evidence of MAL regrowth.” Suzie said. “We are suggesting a CAT scan with contrast to look at the arteries better, as well as being assessed for nutcracker syndrome. I would also reach out to your pain management team and get a splenic block, and a block to assess for ACNES, which is an issue with the nerves in the abdomen.”
“Okay I’ll see about doing all of that.” I said.
Starting over with a new diagnosis seemed overwhelming. I felt like I was going to war again. I suspected nutcracker syndrome at that point. I had a lot of symptoms of it, and I already had MALS. A lot of compression syndrome patients have multiple vascular compressions at once.
The treatment for nutcracker syndrome was another major surgery where they transplanted the kidney that was getting damaged from the vascular compression elsewhere in the body. I knew if I had to have another major surgery to get rid of this terrible pain, I would. I reached out to multiple surgeons who treated compression syndromes. Although Dr. Hsu did not see nutcracker syndrome on my scans, Dr. Hsu is a MALS expert, and I knew of a fair amount of people where Dr. Hsu has missed the other compression syndromes on them.
I ended up reaching out to two other vascular surgeons; Dr. Foley in Wisconsin, and Dr. Nagarsheth in Baltimore. The appointment with Dr. Foley’s staff came first. I had a telephone visit with his nurse, and then another visit with his nurse. Ultimately, they could see no evidence of nutcracker syndrome on my scans. They did not think that I needed to fly out to be seen in person.
For the appointment with Dr. Nagarsheth, it was required that I see him in person, as he did not have the option to be seen via telehealth. The first appointment I was able to get with him was on Halloween of 2022. My online friend Alice, who also had MALS surgery with Dr. Hsu, agreed to meet me in Baltimore. She used to live in Baltimore, had friends there, and wanted to show me around the city. She was also a first responder at an airport, so we had that in common as well. I really appreciated Alice offering to meet me there. Not only was I able to save on accommodations, because she split the price with me, I could meet the friend who got me through the rough times with MALS.
I flew to Baltimore on a Sunday so I ready for my appointment that Monday. Alice agreed to pick me up at the airport since she was able to borrow a friends car. I waited outside on the curb. I had never been to Baltimore before, so I excited about seeing the city. Alice pulled up in a silver sedan, I put my bags in the back seat, and got into the passenger seat next to her. It was surreal meeting this person that I had talked to so much over the last two years. I gave her a big hug. We were both going through a lot. Alice had brain cancer, and was in active treatment for that. When I met her in person, she was doing experimental treatments from Duke. Meeting Alice I felt like I met this long lost friend who just understood me. She understood the health stuff I was going though, as well as the fight for diagnosis and treatment.
The time for my appointment with Dr. Nagarsheth had come. I was grateful to have Alice there with me for the appointment. There is something to be said about having a companion at appointments. I find that doctors are less likely to gaslight you if you have a witness. I did not think that this doctor would be one of the one to gaslight me. I had heard, from my vascular compression friends, that he was a great doctor, and would be able to help me.
The office, where Dr. Nagarsheth practiced was in downtown Baltimore. We ended up having to valet park our car, which was an interesting experience and something that I didn’t usually do. We let the valet park the car, and went into the building. Before my appointment with the doctor, I had to have a doppler ultrasound. I was thankful that I was getting the ultrasound in his office, so that I could ensure that it was done with the correct protocols. With rare diseases, there are instances where they are not found because of the testing being done incorrectly. This has happened to me with the 5 CAT scans and the MRI I had had done. All of the radiologists had missed MALS until I saw seen by a doctor who understood MALS, and was able to look at my scan himself.
When the doppler ultrasound was done I was escorted into a room, and waited for Dr. Nagarsheth. Alice joined me at that point too. It was nice having the company. We ended up having to wait a couple of hours to see the doctor, because he had an emergency patient that he needed to tend to. I was not going anywhere until I saw Dr. Nagarcheth. I had come too far and needed answers. He was the one that could give them to me.
Finally, Dr. Nagarsheth had arrived from the hospital, and entered the little exam room. He was a tall, middle eastern man with black hair and brown eyes. When he entered the room he was still wearing his blue surgical scrubs with the white drawstring. “Hello, I’m KJ Nagarsheth.” He said, “I apologize for being late, but I had an emergency surgery today that went much later than expected. What can I help you with today?”
I described the patterns of my pain, and the symptoms that accompanied it. I talked about how I had a CAT scan and that Dr. Hsu told me that the MAL had not grown back and it appeared that my MALS surgery was still working. I told Dr. Nagarsheth that I had also consulted with another nutcracker surgeon in WI, Dr. Foley, who had told me that he could not see nutcracker syndrome on any of my scans I had sent him. Dr. Nagarsheth had me lay down on the exam table and palpated my abdomen, which of course it was excruciating. He seemed to be contemplating and trying to figure out what to do next.
I knew from others, who had seen him, that he would help me to the best of his ability. “I have reviewed the CAT scan and the ultrasound that we did here today in office. The angle of your superior mesenteric artery is actually around 130 degrees, so it is not possible for you to have nutcracker syndrome. Nutcracker syndrome is the compression of the left renal vein in between the superior mesenteric artery and the aorta. Your angle is high enough that it would not be possible for a compression to happen there. I also evaluated that your MALS surgery is still working appropriately, and the velocities in your celiac artery were normal on both inhalation and exhalation. So, you do not have any other vascular compressions syndromes. Looking at your pain patterns and the symptoms you are describing, severe diarrhea, nausea, vomiting, and hypoglycemia; I suspect that the pancreas might be the thing that is causing you pain. Do you have a GI doctor that could evaluate your pancreas?” Dr. Nagarsheth asked.
“I do not right now, but I think I am going to go to VCU Health in Richmond, VA to get my pancreas evaluated.” I replied.
“Yes, I think that would be a good idea. VCU has a great pancreas program, and I think they would be able to help you there.” Dr. Nagarsheth said. After having MALS surgery I expected to be healthy for longer than a year. I was so frustrated that my body was likely failing me yet again.
I think what people do not realize, is that I could have done all the yoga, organic eating, supplements, and exercise in the world, and I still would have gotten sick. Illness and disabilities do not care that you are young, and have a family, they take what they want when they want to.
After my trip to Baltimore, I ended up making the next appointment I could at VCU. I was able to get in to see them the week before Thanksgiving. I was to be travelling there for a week to get very specialized pancreas testing. VCU was one of the few places on the East Coast that had a designated pancreas specialty. I figured that where others had not found any issues with my pancreas, my pain was either not from my pancreas, or the issues I had were hiding in plain sight.
When it was time to travel to my appointments in Virginia, Scott and I decided that we wanted to drive to VA, so that we could have the comforts of our own vehicle while we were there. I had appointments and testing all week. I ended up having endless amounts of blood work, a liver ultrasound, an endoscopic ultrasound, a MRI with secretin injection, pancreas genetic testing, and a fecal elastase test.
They were testing for a thing called minimal change chronic pancreatitis (MCCP). It is a chronic inflammation of the pancreas but is called “minimal change” because the damage is at the cellular level, and generally does not show up on traditional scans. It also does not usually show up in abnormal laboratory work.
At the end of the week, I had a final appointment with Dr. Khan, who was the pancreas specialist, and transplant surgeon. As much as I did not want something else to be wrong, I needed answers and hoped that his appointment would provide them. In the appointment was Dr, Khan and his nurse assistant Lyndy. Scott of course accompanied me as well. Dr. Khan assessed my abdomen, and I went over the symptoms that I faced every day.
I felt like I was having to repeat the same thing to doctors all the time. I wanted to make them all a PowerPoint to describe my symptoms.
“I have reviewed your scans, and I really cannot see anything at this point. I think you will need to wait until the genetic testing and the fecal elastase test comes back. If your fecal elastase is low it will indicate that your pancreas is not making appropriate digestive enzymes. We will wait until the fecal elastase and genetic testing comes back to plan.” Dr. Khan said.
I was frustrated.
I came all that way, and still didn’t have answers yet.
Scott and I made the trek back to Vermont from Virginia, and were just pulling into our driveway. I got a notification that I had a new test result. I logged into the portal and looked at it. The Fecal elastase test had come back and showed that my result was low. This signified that my pancreas was damaged enough to be unable to produce digestive enzymes anymore. For myself, instead of the insulin and glucagon function of the pancreas failing first, the exocrine function that makes digestive enzymes had failed. I had every symptom of having low enzymes.
I scheduled a follow up appointment with Dr. Khan after my genetic results also came back. The genetic testing was a book full of different mutations on various genes. I could make no sense of it and google really didn’t help much with that. It was like reading a difference language.
The appointment with Dr. Khan came. Thankfully this appointment was a telemed appointment instead of having to travel to Virginia in person again.
Dr. Khan explained that along with the enzyme function of the pancreas failing, I had mutations to the CFTR and CASR genes. I eventually was found to be a cystic fibrosis carrier. Having the mutated genes and being a cystic fibrosis carrier had caused the issues with my pancreas. He also suspected the blood flow disruption from MALS caused pancreas issues, but there was no research on either.
Dr. Khan explained that the surgery they do is called the total pancreatectomy with islet auto transplant, called the TPIAT. They were going to fully remove my pancreas to treat the pain from chronic pancreatitis. Then they would extract the cells that make insulin from my diseased pancreas and transplant those into my liver. The goal after surgery was to reduce pain, mitigate the risk of pancreatic cancer, and to hopefully preserve as many islet cells as possible so I wouldn’t need insulin after the surgery.
A total pancreatectomy is a massive surgery, where most of the digestive tract is taken out and redone. I felt like I was going to into battle all over again. MALS surgery was brutal enough, I now had to go through another major surgery if I wanted any quality of life. I geared up for this next fight. I knew that I was either going to get better, or I would die trying.
Pancreas pain is this terrible, unrelenting, pain that never stops. It always felt like I had a hot brick in my abdomen, slowly burring its way out. The pain would start in the upper left abdomen, and radiate to the right side of my abdomen, my left flank, left shoulder blade and neck. It was even difficult and painful to swallow. When I was having flares of the pancreas pain it felt like a steady, unstopping, labor contraction. I wanted that organ out of my body more than I could describe. I felt everyday like it was poisoning me.
When Lyndy called me to schedule the surgery, and preoperative appointments, I took the first available date. The day my life was going to change was February 14, 2023.
I did the best I could over the next couple of months attempting to manage my pain and getting affairs in order as much as possible. Being confronted with your own mortality at only 36 years old is daunting. My daughter was only 5 years old, and I had been married to Scott for nine years. I knew that I was going to one of the major transplant hospitals on the East coast. Dr. Khan was a dedicated transplant surgeon and did an average of one TPAIT surgery a week. I felt confident my team’s ability to keep me as safe as possible, despite the complexness of this surgery.
My Valentine’s Day surgery came. I joked with Scott that my Valentine’s gift to him would be my hopeful newfound health. I was scared, but knew that I was so sick, and needed the chance at life. The only way to get better was to have the surgery. At the time my hair, that I was trying to grow out, had started falling out in clumps from the severe malnutrition.
The surgery was scheduled for about 12 hours. They would be removing seven organs, including my diseased pancreas. My pancreas would be brought to a lab a couple of blocks from the hospital, and the islet cells that make insulin would be extracted there. The islet cells would then be suspended in a solution for later infusion into my liver. While the islet cells were in the lab being removed from the pancreas, the transplant team would be reconfiguring my digestive tract without all the organs. When my islet cells were ready, they would bring them back and infuse them into my liver, where they would live for the rest of my life. The hope was that they would produce enough insulin on their own, so I would not need to take insulin.
We ended up flying to Virgina, so that we would not have to make the 14 hour drive back in the car after I had had major surgery. I had to stay in Virgina for a month after the surgery, to ensure that I was close to the hospital after being discharged. I had to be at the hospital at 5:30am on the 14th.
Scott and I got there, and the staff settled me into the preoperative room. Eventually, Dr. Khan and Lyndy came into the room to talk to me and go over the plan for the day. The plan was to be put under anesthesia. After I was successfully out, they would put in a breathing tube, arterial line, and a central line in my neck. I would have a NJ feeding tube for the first couple of days until they could make sure I was eating and drinking enough. I would not be woken up immediately after the surgery and would be in a coma for the first 24 hours to give my body some time to adjust to its new reality.
They would update Scott as much as possible throughout the entirety of the procedure. Around 10am they were finally ready to take me back to the operating room. The hospital bed was wheeled into the operating room. If you have never been wheeled into the OR for a pancreas transplant, let me tell you that it was overwhelming.
In the room there was about 10 people in there waiting for me. The room was huge, and all the medical equipment laid out glistened in the bright lights. I noticed what I thought was a gallery, like you see on Grey’s Anatomy so that students can watch surgeries. Besides heart and lung transplants, I was having one of the other major transplants that you can have. Once I was assisted to the operating table, which felt narrow enough that I could fall off, Dr. Khan was there telling me that I would shortly be under anesthesia. That was the last thing I remember before waking up in the ICU.
Despite still having the NJ tube, and breathing tube, it was a relief waking up from the surgery. When I woke up, even though I had a lot of surgical pain, I could tell that that horrible pancreas pain was gone. Scott told me that my surgery went much longer than they were expecting, and they had not completed the surgery until around three in the morning. Dr. Khan had told Scott that I had a great islet yield of 900K islets, so it would be unlikely that I would need insulin very long.
When the surgery started, they discovered that most of my organs were encased in scar tissue which had made them adhere to each other and my abdominal cavity. It took a while to free my pancreas from the mess that they found. Dr. Khan suspected the scar tissue was from my previous MALS surgery as well as from my connective tissue disease Ehlers Danlos Syndrome.
After the surgery I recovered for a month in Virginia. I had a couple of complications, a blood clot in my liver, and then sepsis immediately after returning home.
Overall, my recovery was not as bad as I envisioned. Initially I had to inject myself with long acting insulin, and blood thinner shots. I got into the swing of things. Learning how to use my new body was interesting. I only had half of my stomach left, so eating was complicated. I have to take 4 different medications just so I can eat, and to make what is left of my stomach contract to push food through my digestive system.
Overall, the changes were mostly positive ones. I was able to eat without pain, for the fist time in a very long time. The unrelenting pancreas pain was gone. It had turned out that my gallbladder was diseased, in addition to my pancreas. The gallbladder thankfully had to be removed during the TPIAT anyway. With taking the digestive enzymes, I no longer had nausea, vomiting, and severe diarrhea. I feel pretty normal, which was a nice feeling. I was so grateful for Dr. Khan for believing me, finding the cause of my awful pain, and treating it.
Throughout my chronic illness journey I have been a believer in the power of spreading awareness for rare and underdiagnosed medical conditions. After a stranger on the internet helped me find my own MALS diagnosis, I wanted to help others in the same way. The internet has enabled me to be able to assist others in finding doctors to treat these rare illnesses. I found Spoonie Sister Shop when I was first diagnosed with MALS and bought a “MALS strong” shirt. I felt so alone in that moment, being able to share my diagnosis with others helped me process what was happening to me. I have always felt supported by Spoonie Sister Shop in every part of my chronic illness journey. When I’m having a rough day cuddling in my “Out of Spoons” blanket, or getting comfy in my “fighting invisible battles” sweatshirt helps me feel better. I also have met a community of people who understand what I have went through, and that is so worth it.
I like spending time with my family and my pets, and I wanted to share my story to raise awareness for rare medical conditions.
You can follow Lisa’s medical journey on Instagram @lisaimpey86 or on TikTok @lisaimpey
Note from Michelle (Owner, Spoonie Sister Shop): “I am so grateful to Lisa for her willingness to share her story and chat with me 1-on-1 about her experiences with Minimal Change Chronic Pancreatitis. Because of Lisa, I sought out help at VCU as well and ended up getting properly diagnosed with and treated for Minimal Change Chronic Pancreatitis. This has been completely life changing for me, and it was all because Lisa was so open about her experiences and encouraged me to seek help from Dr. Khan. Thank you, Lisa!”
Disclaimer: This is simply the story of Lisa’s personal experiences with chronic illnesses. This blog is not to be taken as medical advice. If you have any medical concerns, always seek the help of a doctor or licensed medical professional.
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