A hEDS Warrior: SMA Syndrome

"When you stand and share your story in an empowering way, your story will heal you and your story will heal somebody else." - Iyanla Vanzant

Introduction:

Hello! My name is Katelin.

I have a chronic genetic medical condition called Hypermobile Ehlers-Danlos Syndrome (hEDS). It is a connective tissue disorder that causes excessive joint hypermobility and an array of comorbidities- many of which I have.

Some of my comorbidities due to my Ehlers-Danlos are the following: Postural Orthostatic Tachycardia Syndrome, Nutcracker Syndrome (Also known as Left Renal Vein Entrapment,) Delayed Gastric Emptying/Various Gastric Issues, Raynaud's Syndrome/Phenomenon, Narcolepsy without Cataplexy, etc.

I have been struggling with medical issues and complications my entire life due to hEDS but was only recently officially diagnosed about a year ago. I finally had an answer to my pain; yet my body continues to show increasing issues and comorbidities as I get older.

I usually do not tend to seek help in this way or by platform, however my current financial circumstances due to my medical bills have been causing consistent burden to not only my overall life, but my mental health as well.

It has been a lifetime of struggle and I finally thought that maybe, I could seek out some extra help from family, friends, and the community while also raising awareness of Ehlers-Danlos Syndrome and the many battles one has to fight with it. My hope is to also share my story and maybe inspire someone with a similar situation; or even help another with their diagnosis by reading my story and using it as a way of connection.

I also wanted to say that just because someone looks young, healthy, or not particularly disabled does not mean they aren't struggling or in constant pain. This has been a re-occurring thing that has been said to me by medical professionals and people throughout my journey and it is very frustrating to say the least.

We are all battling something. Whether it is visible or not.

About Me:

I figured sharing a little about me before getting into my story would help you all get to know who I am as a person before just getting into the medical side of my life that I deal with daily.

I have to remind myself consistently that I am not only my illness; but a person with a life, feelings and a whole lot of love inside of her.

My name is Katelin. I am currently 26 years old. I have a loving family, boyfriend and five animals (four cats and one dog). I currently work as a Registered Behavior Technician and enjoy helping children on the spectrum learn skills that can help them advance through life. I love my job and the children I work with. They mean the world to me. I am certified to teach yoga, and have an interest in health and wellness. A big dream of mine is to get into nutrition/holistic health and combine my yoga certification to spread wellness to others. I battled an eating disorder for many years and am proud to say I have recovered-- I've realized food truly is medicine and I hope to spread that message in the future with my career along with helping others with my condition (hEDS) strengthen their bodies through nourishment. I also plan on possibly double majoring as a Speech Language Pathologist combined with a Registered Dietician degree to continue to help children on the spectrum (as some of them need feeding therapy.) My hobbies include creating art, writing, fashion, yoga/mindfulness, singing, acting...the list goes on! I have a deep love for nature, the universe, and am always dreaming.

Now that you know a little more about me outside of my hEDS, here is my story.

History:

As a child, I was pretty active. I do not remember many of my symptoms during this time, but I do remember consistently being and feeling sick. I would always go to the school nurse and watched the other children outside play while I would feel unwell. I frequently bent and sprained my ankles and I always felt clumsy and uncoordinated. I was rather flexible and sat in weird positions that a normal human body normally wouldn't be capable of-- which I can still do to this day. hEDS causes flexibility and effects the collagen and connective tissues in our systems, making us usually abnormally bendy and stretchy; including our skin, tissues, organs, and blood vessels.

In highschool, is when a few symptoms began to spike and really show itself. I started having many digestive issues. Chronic heartburn, pain, and slow digestion. A rare Pancreatic Rest was discovered causing a blockage and I had to have a major surgery to remove it and re-construct my stomach. At this current point in my life, I am pretty sure my hEDS has something to do with this earling finding but at the time thought it was normal stomach affair. The heartburn decreased significantly but I continued to have stomach issues. hEDS is known for causing gastrointestinal upset.

During this time, I also experienced a few episodes of fainting. However, during the time, my parents and I assumed it was low blood sugar and they would give me a fruit juice afterwards in attempt to help. I remember one episode in particular, I woke up from my sleep and stood up abruptly from my bed. I felt dizzy and my heart was racing but made my way to the bathroom. My father was awake and once I was done with the bathroom, I ended up passing out and hitting into the shower. My dad ran to the bathroom and picked me up, and I regained consciousness for a bit before passing out again. He brought me to my bed and laid me back down. I now know these are symptoms of Postural Orthostatic Tachycardia Syndrome (POTS,) a comorbidity of hEDS, which I have been diagnosed with in recent years.

The earliest memory of my actual pain starting was when I was just barely beginning college. During this time in life, we are going through a lot of changes and have many hopes and dreams for the future. Never did I think I would end up needing to leave college due to my worsening health.

I remember laying in bed and feeling an odd pain in my knees. My mother and I chalked it up to the air-conditioning in the house making my joints cold-until the pain continued to increase and spread throughout my body and other major joints. I went to many doctors during the time that told me it was growing pains (at this point I was already done with puberty,) and was consistently checked for many rheumaticalogical diseases of the body; at one point I was even almost diagnosed with Lyme-Disease. Yet, nothing completely matched up and the search continued on. hEDS causes chronic pain in joints due to consistent instability and loose unstable joints that sublux and dislocate.

I felt a constant chronic fatigue during this time as well. I didn't take it seriously until it began to effect my work and overall life. A sleep study showed Narcolepsy without Cataplexy. Only now do I know, hEDS can be comorbid with various sleeping disorders.

Due to the stress of my medical decline all while going through college and personal issues, internal conflict began to develop and I suffered an eating disorder for many years that sent me to residential treatment multiple times.

During my stay, I was in chronic pain always. I began to experience sharp pain in my abdomen and had to go to the hospital. Eventually, I ended up needed my gallbladder removed entirely. hEDS can cause many dysfunctions of the systems throughout our bodies. Bloating, nausea and stomach pain are frequent in individuals with hEDS and mast cell activation. Mast cell activation syndrome (MCAS) causes an inappropriate amount of mast cells to be dispersed throughout the body and can cause allergic reactions and can be the cause of some of these systemic dysfunctions. I have been diagnosed with chronic urticaria (hives,) in the past and high histamine. I also am allergic to dairy and sensitive to gluten and have many allergies due to this. My doctors suspect MCAS and I will be tested for it in the future. I have also been diagnosed with IBS, and delayed gastric emptying all attributed to my hEDS. This is just some of the complications with the gastric system, hEDS can cause.

My joint pain began to flare (as well as my other symptoms,) and I would always be confined to my bed and honestly depressed. I usually sleep with extra pillows to cushion my joints. I tried many things to solve the pain. Topicals, medications, etc. My bruising is very bad, and phlebotomists frequently complain of my veins moving easily; and I tend to bleed out for a while when I get a cut. All symptoms of EDS. No doctor could explain the exact cause and life was getting frustrating and tiring. I felt like a medical mystery most of the time, and it was really messing with my mental state and insecurities.

Throughout all of my diagnoses, I would do my own research because it came to the point where most doctors told me my joint pain was all in my head. I even had a doctor straight up tell my mother that I was crazy and causing the pain psycho symptomatically. However, I stood my ground and refused to believe that all the pain and suffering I had been through so far was made up and in my head. A lot of doctors don't recommend Google searching, but when you are desperate for an answer, you search for your own. I found Ehlers-Danlos Syndrome online and realized I had many of the symptoms and comorbidities associated with it. However, I read it was a rare condition and I pushed it to the back of my mind because- what are the chances I would have that? Turns out, Ehlers-Danlos Syndrome is more common than we think and it is under diagnosed.

After some time, I figured it wouldn't hurt to discuss the possibility with a geneticist. During the check-up with the nurse, she took my blood pressure and mentioned immediately that it was low and my heart rate was high- she wondered if I had a condition called POTS. The geneticist did not take that into consideration and began to examine me based on the Beighton Score; which is the diagnostic criteria for hEDS currently as there is no genetic test discovered for this specific type yet. During the time the Beighton Score was different than it is now. Yet even with my family history, he claimed he did not think I had EDS. I left there disappointed and lost without an answer yet again.

Due to me ending up being bedridden pretty often, I noticed a significant increase in my heart rate during this time when I would stand. I would often feel faint and sick to my stomach. I'd get clammy and cold fast and would need to sit, or lay on the ground and hug my knees to prevent from fainting. I had a fitbit during the time which tracks many things- one being heart rate. I noticed familiar patterns and abnormally large spikes, some as high as 165bpm- mind you, this would simply be my heart rate while standing or walking. Most individuals have a higher heart rate when exersicing. I would literally be doing nothing and felt out of breath and ill. I remembered the nurse at the geneticist mentioning POTS, so I seeked out a specialist and was eventually diagnosed with the condition. About 80% of people with EDS have Postural Orthostatic Tachycardia Syndrome which is basically a form of autonomic dysfunction or dysautonomia. It is a disorder of the autonomic nervous system (things we don't consciously control,) and effects heart rate, blood pressure, sweating, body temperature, etc. While there, the cardiologist suggested that it sounded like I could have Ehlers-Danlos and to get a second opinion. Part of me was afraid because I had already been shut down before of the possibility, but I took it into consideration.

A while later, I found increasing pain in my joints while the weather began to chill/get colder. During a visit with a Rheumatologist, I was diagnosed with Raynauds Phenomenon when she noticed my hands were cold to the touch and white. It looked like I had no blood flow to them. She asked if it happened often and I replied during cold weather. My feet have the same issue too. Even holding a cup with ice in it can cause my hands to act up due to blood vessels constricting. This enhances my pain during winter months especially. This is a common comorbidity of hEDS. This is due to structural abnormalities in connective tissue, compromised collagen, and autonomic dysregulation as mentioned earlier.

I finally went to get a second opinion from another Rheumatologist. After explaining my symptoms and life-long issues, he proceeded to promptly ask about my family history and decided to re-evaluate me for hEDS using the Beighton Score and taking my own history and family history into account. He told me I definitely met the criteria and proceeded to do his best to help me with my pain, even prescribing a special medication that could only be formulated at a special type of pharmacy that creates medicines. Unfortunately, it didn't do much to help and I deal with chronic pain daily.

Finally- I had an answer to all of my daily problems and life-long illness. It all made sense and something in my gut throughout this process was telling me it was hEDS this entire time; but part of my mind refused to believe it, even after my official diagnosis. To this day, I struggle to believe I actually have this rare condition and carry the insecurity that it is all in my head from so many years of being shot down by doctors- even if I carry most of it's comorbidities and have so much proof of the condition.

Recently:

As of more recently, I have been diagnosed with another rare complication often associated with hEDS: Nutcracker Syndrome, otherwise known as Left Renal Vein Entrapment. This is when there is a compression of the left renal vein usually between the aorta and superior mesenteric artery. It is most likely due to the hyperelasticity of tissue in people with hEDS and is what makes it more commonly found in people with the condition. I have been suffering with lower abdominal pain for years and microscopic but significant amount of haematuria for some time as well. I even when to a urologist who did a cystoscopy and couldn't find an exact cause. Fast forward a few years later and the pain got increasingly worse, specifically around my menstrual cycles. After numerous visits to gynocologists, I was checked over and over repeatedly. Everything usually came out normal except some signs in ultrasounds and bloodwork pointing to possible PCOS. The pain began to get so intense to the point I would be faint and like throwing up and missed many days of work. It was severe and was now effecting my overall life. I was told there could be a possibility of endometriosis and that my story sounded similar to those who had it. There is also a link between hEDS and endometriosis being more common in our bodies- so it was suspected.

During a trip to the Urgent Care for the pain, a discovery was made of something called Nutcracker Syndrome. Apparently it had been seen in previous reports but they never documented it until now, comparing it to previous studies and said it seemed significantly worse. It made sense as my pain had only increased as well. Symptoms of Nutcracker Syndrome are often compared and thought to be similar to the pain of Endometriosis; so it was hard to discern which was causing the actual issues without going in to check for actual Endometriosis. I was glad I had an idea of where to proceed if it didn't turn out to be Endo.

In July, I underwent a diagnostic laproscopy to check for Endometriosis but nothing was found. The doctor did say he found congestion of my pelvic veins and a very mobile/elastic uterus and ovaries. I proceeded to see a Nephrologist who sent me to a Vascular Surgeon immediately. He said my compression was very severe and apparent on the CT Scan and the veins around it are engorged. My consistent, intractable pain and the diagnostic findings are enough to warrant me surgery. I would need something called a Renal Vein Transposition. This is a procedure that would essentially move my left renal vein so it attaches to my inferior vena cava at a different location. This allows the renal vein to avoid traveling between the superior mesenteric artery and my aorta. The first surgeon actually turned me down in operating on me, because the condition is so rare and he does not have the experience with it. He proceeded to send me to another Vascular Surgeon who is his colleague and has more experience to preform it.

The surgery is an open, major procedure and I would be in the hospital for about a week, and recovery may take over a month- but can be life changing. It would essentially (hopefully,) stop my pain. I also hope it would somewhat relieve symptoms of my POTS, as it has been shown to relieve some individuals of theirs due to the compression of the vein and causing the heart to work harder than usual. It may or may not since my primary diagnosis is hEDS and the POTS could simply be from that alone, but it is a risk I am willing to take. I currently am out of work from the severe pain of the condition and am looking forward to my procedure and getting back to work and having my life back. I am currently in line to have a Venogram done ( which is basically an x-ray of the veins near my kidney,) to see which would be the most reliable vein to move/connect my renal vein to.

The Vascular Surgeon also recommend that I eventually get genetic testing done to make sure my type of Ehlers-Danlos isn't a more rare type; Vascular Ehlers-Danlos Syndrome, due to it now effecting my blood vessels/veins. This is something I hope to get done in the future, just for safe-knowing.

What Your Funding Goes To:

With your help, I will be able to hopefully pay off the many medical bills I have acquired throughout the years and more recently due to my recent laparoscopic procedure and upcoming major, rare open surgery.

The accumulated amount is rather high and I can only image the amount it would be after this next surgery.

I also currently do not own a car due to a previous accident, and need to save up for another one to get me to and from work after I am healed and recovered. I can't wait to get back to helping the kiddos.

Once all this is over, I am hoping to return to my daily life; work, possibly schooling when I can afford it, and moving in with my loving boyfriend. There are a lot of life changes coming up, and I am looking forward to a positive future and healthy life.

Thank you for all your love, support and help. I truly appreciate it and hope the universe sends you many blessings and light.

I want to also just say that no two people with Ehlers-Danlos are alike. Everyone has different symptoms, pain levels, different types and experiences; and this is mine.

Major Update:

It has been a bit since I've actually updated the description of my GoFundMe. I figured summarizing what has happened here during the last few months would be adequate enough. I have been doing small updates here and there but I think posting a larger summary would be helpful to those still curious/asking about my journey and those who have missed the smaller updates throughout.

Long story short- the journey isn't over. After my last procedure, I had an assortment of complications. I had an ileus which lasted quite a bit (my digestion/bowels did not move and seemed temporarily paralyzed for a bit,) and my incision kept opening as well. However, I soon realized that I started to experience excruciating pain and swelling in my upper left abdomen. I was experiencing frequent nausea and vomiting. Although the last surgery had fixed my Nutcracker Syndrome, it gave rise to another comorbidity often linked to Ehlers-Danlos Syndrome.

After having constant pain that would not go away, I was referred to a gastroenterologist by my cardiologist who told me that the pains I was feeling seemed more linked to my digestive track. Well- he was right. I was able to see a gastroenterologist who then did an endoscopy and suggested I had another compression. My heart sank.

Superior Mesenteric Artery Syndrome. (SMA syndrome) is a rare condition where the third part of the duodenum, a section of the small intestine, is compressed between the superior mesenteric artery and the aorta, potentially causing partial or complete blockage. This compression can lead to symptoms like abdominal pain, nausea, vomiting, and weight loss.

After the diagnosis was suspected, we fought with insurance to get an MRA done which was denied several times. After realizing how sick I was getting and the doctor pushing for an answer, it was finally approved. Once I had the MRA, it then confirmed the diagnosis of SMA Syndrome.

I quickly was sent to another doctor in attempt to try to increase my nutritional intake with a stent in my duodenum to expand the area and compression, hopefully opening up enough to allow me to properly eat. This would make me gain weight back and reverse the condition. Unfortunately, the stent did not work at all and actually made things worse and was more painful than intended.

I had frequently called the office and tried to get more help and plea to them that I was only getting sicker. That this was not working. After what intended to be a few weeks with the stent- it ended up being over two months due to scheduling issues and just general lack of care from the office.

After my stent was removed, I begged for a chance to talk with the provider and ask what the next steps were because things were only getting worse and not better. After assuming I had a mental illness, and some not so good bedside manners after having proof of my diagnosis I was fed up with the office and took my business elsewhere.

After rapid unintended weight loss from the compression and the stent failing, it was recently removed from my duodenum and a new plan of care is taking action.

The new surgeon I am seeing says that surgery is another option. These would include either a Duodenojejunostomy or Gastrojejunostomy. However, it could be a lot more complicated then we anticipate due to my many past abdominal surgeries, build up of scar-tissue, my ehlers-danlos syndrome, amongst other things. The surgeon also believes my delayed gastric emptying could have also worsened, but we are unsure of that conclusion until I get a gastric emptying study done again since its been over five years.

Our next plan of care is as follows: I will be admitted to the hospital this week to start TPN. Total Parenteral Nutrition (TPN) is a method of delivering nutrients directly into the bloodstream, bypassing the digestive system. It's used when a person cannot eat or absorb nutrients through the mouth or via a feeding tube. TPN provides a complete nutritional solution, including fluids, carbohydrates, fats, amino acids, vitamins, and minerals.

Since I am currently very malnourished the plan is to stay in the hospital for a bit to get adjusted to the TPN. I'd be there for a few days up to a week until my body adjusts to the large amounts of nutrients my body will be in taking, as well as watching out for any other complications that could arise.

After that, I will be continuing TPN at home until a further plan of care is decided. The hope is that the TPN will help me gain the weight I need, for the compression to essentially relieve itself and go away without the potential need for surgery.

However, if this fails, surgery may be the only option that is left.

I am currently awaiting a call from the hospital to be admitted.

I hope these few paragraphs kind of summarize what has been happening the past few months after my last procedure- which I thought would have been my last.

Fingers crossed the TPN reverses the SMA Syndrome and brings my light and energy back. This has been a lot on my body both physically and in the mental capacity too.

Also, I will be honest- I currently am on COBRA for insurance right now which is making things even more difficult with doctors, bills, pharmacy, etc. It sucks that even if so many things are going on medically, we wouldn't be provided with the care we need unless we have insurance. It is ridiculous and heart-breaking as someone who is chronically ill and unable to currently work. Things have been very difficult.

Thank you all for your continued support and words of kindness. I honestly do not know where I would be right now without it. Your love and care has made the darkest and hardest days, a little easier. Thank you! Love you all and I will keep you all updated as soon as I hear from the hospital.

Katelin Mendez