Fearless in the face of rare disorder

Fearless in the face of rare condition

CUYAHOGA FALLS - 24-year-old Kaitlynn Heinl is just 65 pounds.  She suffers from a rare congenital syndrome called Superior Mesenteric Artery Syndrome or SMA.

Her journey started at age 12, but for more than a decade she says she was misdiagnosed as someone with an eating disorder.

She says because she was diagnosed so late, her options are limited and not guaranteed. She removed her feeding tube in August because she said it made her ill and impacted her quality of life.  

Every day she eats nearly 30,000 calories, but since her condition causes her to involuntarily regurgitate everything she consumes, she's still losing weight and is severely malnourished. But she says this existence is better than how she was living before.  

She is strongly supported by her family and her faith and is using her time to help spread awareness. 

She says she has accepted that her prognosis is now terminal.  Watch Kaitlynn's interview below and read her story in her own words below. Learn more about SMA click HERE

Kaitlynn Heinl explains her condition in a Facebook post: 
In April of this year, I was diagnosed with SMA Syndrome, or Superior Mesenteric
Artery Syndrome. It is an extremely rare condition with only 400 documented cases and because
it is often not looked for it has an extremely high mortality rate from malnutrition.
 
It is where the two arteries coming off the aorta collapse on the small intestine creating an obstruction that
prevents food from being able to travel from the stomach into the small intestine for digestion
and absorption.
 
SMA comes in two forms: chronic (genetic predisposition and developing over
the course of a lifetime) or acute (developing suddenly after a rapid weight loss).
 
Unfortunately, the symptoms of SMA are symptoms of almost every condition in existence (nausea, vomiting,
stomach pain, etc), it only shows up on specific tests, and can easily be overlooked or
misdiagnosed.
 
I have chronic SMA Syndrome which adds a series of additional complications.
The first is that SMA Syndrome rarely shows up alone. We have learned that my esophagus and
stomach do not empty properly, my intestines are slow, and my pelvic floor muscles work
backwards. Those of you that are closest to me know that I have suffered from stomach issues
for over 10 years and I now know that the reason for all of them is connected to SMA Syndrome.
 
In chronic SMA, it is common to have intermittent attacks of symptoms which is what has
happened to me over the years, but last summer my whole life changed when the arteries
completely collapsed and I developed a complete obstruction.
 
Last summer, I randomly started regurgitating food after every meal. It was extremely
bizarre and it didn’t happen every day and it wasn’t everything I ate, so I wasn’t too concerned. I
still had plenty of energy to run and lift, so I dismissed it. However, after the several weeks the
regurgitation started to happen more frequently, so I told my parents and made an appointment
with my primary care physician.
 
I explained what was happening and how it occurred so suddenly. One day it just started happening. He thought maybe it could be due to the prescription medicine I was on for slow motility, so he decreased my dosage and scheduled an appointment for me with a gastroenterologist. I wasn’t able to get into the GI Dr. until September and by this point the regurgitation had escalated and I noticed a significant decrease in energy. Overall, I just
felt awful. I had no energy to workout and I started to get nerve pain (pins and needles in my
thighs).
 
When I saw the GI Dr., I explained what was going on and he accused me of inducing
the vomiting and being bulimic.
 
10 years ago when I first started getting stomach aches, I sought treatment from my primary care physician and he thought it was possible that I was lactose intolerant. He told me to no longer have milk products and see if that resolved my symptoms. At the time, milk products made up a decent amount of my diet and being a 12 year old girl, I had no idea about how to adjust my nutrient intake to compensate for the lack of dairy products.
 
As a result, I lost weight. The stomach issues did not resolve themselves from the elimination of dairy,
so I went back to the doctor, but now I was accused of being anorexic and told that I was having
stomach aches because of not eating enough and that if I just ate more my digestion would speed
up. However, I was having the stomach aches to begin with, so there was no correlation between
my weight and the stomach aches.
 
Long story short, the stomach problems back then were due to the SMA Syndrome and would be considered an “intermittent attack”, but I was misdiagnosed with an eating disorder and pulled out of school freshmen year of high school for an intensive outpatient program. I would like to go on record for anyone that has accused me in the past of being anorexic, I didn’t have an eating disorder 10 years ago and I don’t have one now.
 
It is hard for me to comprehend why people get so much enjoyment out of labeling others when they have
no idea what is going on behind the scenes. Any time I have ever lost weight, ate a certain way,
or increased my exercise was in an attempt to remedy the pain I felt from the stomach aches.
 
have been accused by [some family], doctors, and peers of having an eating disorder and making up the stomach aches as an excuse not to eat. That is completely false. You try having stomach aches after every meal and tell me how much that makes you want to eat.
 
My only association with food has been pain and discomfort for over half my life. Maybe if a doctor would have listened to me the first time I tried to address the stomach aches, my life would not be how it is right now.
 
Back to last Fall, after that unproductive appointment with the GI, my mom scheduled me
an appointment with an endocrinologist as autoimmune and thyroid problems are prevalent in
my family. All of my bloodwork came back negative for everything he tested me for, so he
recommended I see an oncologist/hematologist and a neurologist for the nerve pain.
 
After appointments with both, we were no closer to an answer and my symptoms were escalating and I
was starting to lose more weight.
 
In November, we made our way to another GI Dr. who wanted to run some tests. On my 23rd birthday, I was being wheeled in for an upper endoscopy. The test showed “slow digestion,” but nothing else. He ordered a few other tests like an upper GI series and a gastric emptying test. The tests showed some things, which were clear indicators of SMA Syndrome, but he overlooked them and told me that they came back negative.
 
At this point, I had been regurgitating almost everything I ate no matter what I was and felt miserable for six
months. I barely had the energy to go to class, Matt had to drive me to school most days because
I had trouble focusing and it wasn't safe for me to drive, and I had episodes of blacking out and
falling from low blood pressure.
 
In January, another doctor misdiagnosed me with something called Rumination Syndrome where the subconscious causes the stomach to contract involuntarily and leads to the regurgitation. He recommended behavior
therapy to resolve it. So I started seeing the therapist that he recommended and to my surprise,
she had no idea what he was referring to or how to help me.
 
My symptoms continued to worsen and I couldn't get a follow up appointment until March. When I did finally get a follow up, he recommended I see a few other specialists, so we made appointments with them and waited. I
had to take Spring semester off of school because I didn't have the energy to get out of bed most
mornings let alone go to class.
 
In April, when I had an appointment with one of the specialists at the Cleveland Clinic, she told me that nothing she does would help me and that I needed to see a someone in nutrition support because by this point I hadn't been able to keep anything I ate down for nine months despite trying my hardest and had lost 25+ lbs.
 
I was physically in probably the best shape I had ever been in when this all started last summer. I was at a healthy weight, regularly increasing my strength, and running with ease, so I did not have 25 lbs to lose. I spent
9+ hours in the cycle of eating and regurgitating every day for 9 months just trying to eat enough
to keep me alive. I barely did anything during this time. I couldn't make plans with friends, go to
school, or workout. I was consuming over 4000 calories every day, but due to all the
regurgitation I was still losing weight.
 
During the appointment with the nutrition support doctor at the Clinic, I was told that I had to be admitted and get a feeding tube. It was one of the worst days of my life which is really saying something after all I had dealt with over the past 9 months.
 
He admitted me that Monday and I had a nasojejunal tube placed to ensure that I was able to get
nutrition since my stomach seemed to be part of the problem. We still had no idea what was
causing my symptoms at this time.
 
Then, the team of doctors that were assigned to my case threw out SMA syndrome. They said I was presenting exactly how they would expect out of someone with this condition. The fact that my regurgitation was projectile is what tipped them off. When I would eat, my mom and Matt had to cover the entire floor and walls with party table
clothes to try and contain the mess. I pretty much destroyed our carpet from accidentally missing
the designated area. I had no control over where the food went no matter how hard I tried to aim.
 
They did a CT test for the SMA Syndrome and it came back positive. I can't even explain how
much of a relief it was to finally have a diagnosis after everything that I had been through, but
my relief didn't last long after learning more about my condition. The Cleveland Clinic told me
that my symptoms would resolve themselves once I regained the now 30+ lbs that I lost because
it would restore my mesenteric fat pad that in normal, non SMA sufferers keeps the arteries from
collapsing on the intestines.
 
They said I had to have the feeding tube at home because they didn't think I would be able to keep anything down orally until I regained all the weight. I was hospitalized for almost 2 weeks because they had to watch me for something called Refeeding Syndrome which is where your electrolytes get all messed up when your body starts receiving nutrition after an extremely prolonged period of malnutrition. It can be deadly and cause all kind
of problems with your heart.
 
After I was discharged from the clinic about 6 weeks ago with the nasojejunal tube removed, but instead with just a jtube in my side, I started to have intolerance to the tube feed.
 
Honestly, I wasn't tolerating it well in the hospital either, but they said it would improve over
time. It did not. During the past few weeks, I spent a great deal of time researching my condition.
I like to know what's going on and do not take the words of doctors as Gospel. Through my
research, I learned about the difference between acute and chronic SMA and that weight
restoration only works in acute cases because that person didn't have any predisposition
to the condition.
 
I also learned that the best chance for a more favorable resolution to the symptoms in
chronic cases was a surgery called a laparoscopic duodenojejunostomy. 
 
Overwhelmed, frustrated, and still feeling miserable, I made an appointment with my primary care doctor and updated him on everything. He completely agreed with me and said I needed to make an appointment with a GI surgeon because this approach wasn't working. He also did a basic metabolic panel on me and called the
next day to let me know I needed to go to the ER as soon as possible for an IV of potassium
because my electrolyte levels were all off again and my potassium was dangerously low. I was at
risk for my heart stopping.
 
There is no cure for SMA. I am thankful I have two parents and a brother who have rearranged their whole lives to accommodate me. I feel guilty for having this condition because it doesn't just impact my life, but theirs too.
 
My intention with sharing all of this is not to make anyone feel sorry for me. I want to
raise awareness about this rare condition and give a little bit of insight on what I have been going
through the past year. If I can help one person by sharing my story, it is worth it. No one knows
what to say to me or how to help, but right now I just ask that you keep me in your prayers.
 
 


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