Helping Marina Get To Specialty Medical Clinic

(Above photo: Marina with Lego Rainbow Zebra)

In medical school, when it comes to diagnosing a patient, students are taught, If you hear hoof beats, think horses, not zebras.” Basically this means looking toward more common diagnoses than those that are rare. It’s a measure to save time, resources and theoretically get to a diagnosis faster.

My older sibling, Marina (Mars), is a zebra. They are among the people with not just one, but multiple rare diagnoses that went undiagnosed for years and has resulted in a very serious health situation.

Theres so much to say and I want to tell you everything in the most accurate way. This is why I asked Marina to write the narrative for this page, to make sure all the facts are correct. Marina is running out of time! Her body is failing. The best doctors in NY State all agree that there is no textbook for this case. Their surgeon said "We are writing the textbook as we go along…" because there is essentially no research or guidance for cases such as Marina’s. I don't want to lose my precious sibling! We are doing everything we can to get to the people who have dedicated their careers to complex and multi-systemic conditions with hope that more novel treatments will help stop or slow damage that is occurring and maybe even repair some of the damage already done.

Please be advised some photos may be considered graphic.

(Youtube Video Link)

From Marina (Mars):

“I was diagnosed with a genetic connective tissue disorder, Ehlers-Danlos Syndrome, in 2016 after 18 years of pain, mysterious symptoms and unanswered questions. Since then a number of other co-morbid disorders have developed and been diagnosed, the most severe of which has been dysfunction of my autonomic nervous system which controls all the functions that happen involuntarily like heart rate, blood pressure, body temperature regulation, digestion, sleep cycle regulation, etc.

In 2019, my gastrointestinal (GI) symptoms progressed to the point that eating solid food was becoming difficult and weight loss was occurring at a fast pace. Through 2020, I saw multiple Gastroenterologists who specialize in motility disorders and failed to get a diagnosis to explain why eating led to severe nausea, vomiting and constipation for up to 6 weeks at a time.

Finally, in early 2021, I tried one more doctor and was immediately put on medications to help with my symptoms and set up for multiple tests. Those tests revealed that my stomach, small and large intestines were all significantly delayed, explaining my symptoms. For months we trialed different combinations of medications to help improve my GI function and lessen the severity of my symptoms. With very little success, I was referred for a surgical consult in October 2021. I had my first surgery to try to help with stomach emptying in December 2021 which led to knowledge of a problem in my large intestine that would also require surgery. In January 2022,

2 ½ weeks after surgery, I suffered an unexpected GI bleed that went untreated for multiple days because the symptoms mimicked those of my typical autonomic dysfunction flare ups.

(Above photo: Marina and Surgeon)

After vomiting blood, my surgeon knew something else was wrong and ordered urgent blood work. This showed a hemoglobin level of 3.8, which is a severity of anemia that is not life sustaining and indicated ongoing internal bleeding. No one could believe that I was talking and giving a complete medical history in the Emergency Department, let alone, conscious. After 2 ½ units of blood and multiple iron infusions, my levels started to improve, but eating was becoming nearly impossible.

On January 18, my surgeon decided that it was necessary to place a PICC line which is a catheter placed in the upper arm that runs through a vein and sits just outside the heart. This line would allow fluids and nutrition called Total Parenteral Nutrition to be delivered to the body, bypassing the entire GI system. The plan was for TPN to be a 4-6 week treatment to add calories necessary to gain weight and strength for the next surgery. In April, I had the left half of my colon (large intestine) removed and it was visibly damaged. The pathology team was so taken aback by the damage seen that they took the case to the GI Pathology Consensus Conference at the hospital. They reported fibrosis (scar tissue), muscle atrophy (weakening and damage) and neural hypertrophy (increased nerve bundle size due to damage). This indicates that there is some kind of systemic process at play that is continuing to damage my nervous system and destroy my GI organs.

(Above photo: Marina's surgical sites)

For the last year, my GI function has continued to decline. I am 100% dependent on TPN and fluids to live. GI motility tests completed recently show significant progression of damage and loss of function that is likely now intestinal failure which is a life shortening condition and generally requires permanent dependence on TPN. My medical team in NYC consists of multiple providers in gastroenterology, neurology, rheumatology, hematology, immunology, cardiology and more. No one has answers to explain what disease process is causing this catastrophic and progressive damage.

A new clinic is opening later this month outside of Salt Lake City, Utah that will specialize in complex neuro immune axis conditions such as mine and have the resources and specialists to trial treatments that no one else has the knowledge or comfort to administer. This clinic is truly one of a kind and has agreed to make me a priority patient due to the time-sensitivity and severity of my case. The co-founder of this clinic is a highly respected neuro gastroenterologist who I have long dreamed of seeing. She has a level of expertise and dedication to patients like me who constantly find themselves passed around like a hot potato due to the time and resources needed to properly handle complex cases. She is, at this point, the only person with the knowledge and willingness to take on the challenge of fighting back against the disease that is killing me.

(Above photo: Marina in Hospital)

This endeavor will be expensive. Very expensive. My insurance is through NY State and does not provide out-of-network or out-of-state coverage, so in addition to travel and lodging expenses, medical expenses will have to be paid out of pocket. There is no other option at this point. We’ve exhausted everything. My health is worsening and my condition is now life-threatening. This clinic is our only hope at a treatment that may slow or stop the disease process and possibly allow some of the nerves to heal over time to preserve some amount of GI function.”

Marina never asks for anything. They dedicate so much of their time to educating people on Ehlers-Danlos Syndromes, Dysautonomia, Gastrointestinal Dysmotility Disorders, Disability and Chronic Illness. When they aren’t educating people, they are advocating for and supporting others all over the world who may be recently diagnosed, lacking in support systems or just simply in need of someone to talk to. Right now, Marina needs help making this trip to Utah possible so they can continue doing what is so important to them – helping others.

Please consider donating to this fund and sharing with as many people as possible. We don’t know exact costs at the moment as things are happening quickly and the priority is just getting Marina out to the clinic. We will add more information as it becomes available, including how funds are being used along this journey and update our fundraising goal as necessary.

If you would like to mail a check, please use the following address:

Marina Lombardi

P.O. Box 34

Mongaup Valley, NY 12762

(Above photo: Marina during GI bleed)

Marina plans to document this journey, just as they have much of their medical experiences over the past few years on social media.

Find them on Instagram and Facebook @MarsTheEnbyZebra or check back here for updates.

Community is everything to Marina. We thank you so much for your support as we navigate these rough waters.

Sincerely,

Anthony