Undiagnosed Mystery Illness: When Every Lead Has Failed

Updated on August 5, 2019
Deb Vesco Roberts profile image

As a mom and a registered nurse, I have turned to my writing to help my son get answers to his undiagnosed illness.

With My Son's Permission, I Share His Story

As a concerned mother and registered nurse, I'm sharing the story of my adult son's mystery illness (he was 28 at time of symptom onset, now 30). The more I read and research, the more I learn mystery diagnoses aren't uncommon and many people have a lifetime of suffering and unanswered questions and never a firm diagnosis.

This illness took him to a debilitated state in less than one year. He's a husband, father, law enforcer, and military reservist. He went on medical disability in June of 2018 and continues unable to work due to constant fatigue and pain. He, like many others who suffer in this capacity, needs answers so he can care for his growing family, return to the workforce, and regain his quality of life by ending the daily suffering.

With his permission, I'm writing this article with the hope it can go viral and fall into the expert hands of a medical professional or researcher who can identify a diagnosis and ultimately, a successful treatment plan. I'll continue to edit this article based on any findings so others can benefit from this research as well.

I've listed below, every test and procedure that's taken place during the worst and current stages of his illness that started in March 2018 and continues to the present day.

For the sake of privacy, I keep my son's name, identifying information, current physicians, and medical treatment facilities, confidential unless given permission to share or at which time, treatment by any particular physician or institution has ceased.

See more about his past and current physicians and facilities at the end of this article.

A Strong Man Taken Down By a Disease  170# and muscular then 132# and muscle-wasted now
A Strong Man Taken Down By a Disease 170# and muscular then 132# and muscle-wasted now | Source

Background and Medical History

Before the onset of this disease process, my son was a strong and healthy individual with no known health issues, allergies, addictions, or bad habits. He eats a healthy diet, is fit, athletic, college-educated, and in good mental health. His only complaint was ongoing heartburn and acid reflux, that started in mid-2013. To look at most of his laboratory findings and overall physical assessment, he presents clinically, as a healthy individual.

My son's child, teen, and young adulthood has been mostly benign. He was born at 41-weeks’ gestation of an uncomplicated pregnancy and delivery. He had a mild dairy intolerance his first two years of life he eventually outgrew. His only childhood concerns were frequent bouts of strep throat, ear infections, and a temporary conductive, partial hearing loss, all of which were corrected by having his tonsils and adenoids removed (at age six).

He was also of small stature at <10th percentile for height and weight, for which he was followed by a pediatric endocrinologist during the ages of 14-15 and was administered monthly testosterone injections (by me) to induce a growth spurt. He grew five inches during that year and went on be a well-proportioned, muscular, athletic, active young man of 5' 8" with his weight ranging from 160-170 pounds in adulthood; most of which is solid muscle mass.

There is no significant family medical history to report besides renal and liver cancer of his maternal father and maternal grandmother.

Complete List of Symptoms

(The listed symptoms wax and wane, are not all at the same time, and some were at the onset of the illness, while others have lingered.) My son's main complaint is an inability to eat and process almost all foods. He feels dreadfully sick after eating, has frequent belching, and persistent insomnia due to the constant and overall body discomfort. The biggest concern, is that he has severe muscle wasting, unintentional, and difficult-to-manage weight loss and is down to 134 pounds. This loss happened over the course of just three months. He reached the peak of his weight loss around late June to early July 2018 and has been able to hold steady in the 132-136-pound range by being diligent and aggressive with his daily caloric intake, despite the pain and discomfort that follows eating. He is hell-bent on beating whatever this is and is fighting hard against his body just to maintain his current BMI and trying to regain some muscle mass. If ever there was someone willing to fight for a diagnosis and a cure and to not give up, it's my son.

His only significant diagnosis is SIBO, for which he is on a strict low FODMAP diet, but his care team is convinced that this is secondary to another primary diagnosis. He prefers to not take any over-the-counter or prescription medications at this time and has had allergic or unfavorable reactions to the rifaXIMIN XIFAXAN, the drug of choice for treating SIBO. These are all of his symptoms:

Listed in alphabetical order

  1. Abdominal pain, upper and lower, focused on left side primarily
  2. Belching
  3. Blurred vision (most recent symptom)
  4. Chest pain & pressure
  5. Cold hands and feet
  6. Dorsalgia
  7. Extreme fatigue & overall weakness
  8. Eye pressure
  9. Feelings of heart attack (normal EKG)
  10. Gastroesophageal Reflux Disease aka GERD (diagnosed 6/2017)
  11. Hair loss/thinning
  12. Hot flashes
  13. Inability to exercise or exert
  14. Intolerance to most foods
  15. Jaw pain (since high school, chronic)
  16. Joint pain
  17. Lightheaded, faint, dizzy
  18. Loose stools and intermittent diarrhea
  19. Loss of all muscle mass
  20. Memory fog
  21. Muscle cramping and fasciculations
  22. Muscle function loss
  23. Muscle loss - extensive
  24. Nausea, often severe
  25. Numbness and tingling in feet (newest symptom)
  26. Painful swallowing/persistent lump in throat
  27. Poor coordination
  28. Pounding heart also felt in other areas of the body
  29. Red bumps on feet (newest symptom)
  30. Sharp ear pain
  31. Shortness of breath
  32. Tingling of the skin
  33. Tongue feels coated
  34. Unintentional weight loss of 40lbs (from February - May 2018)

Confirmed Diagnoses Thus Far

  1. Anemia - mild, chronic (hematology is not concerned; states very mild)
  2. Carpal Tunnel Syndrome - (EMG)
  3. Cavitations in 3 of 4 wisdom tooth sites after extensive workup. Surgery could have been recommended, but the dentist tried ozone treatment, which helped in terms of energy afterward for 2-3 weeks, but then worsened.
  4. Declining Platelets - 207,204,190,185,168,169,162
  5. Hyperprolactinemia (elevated Prolactin)
  6. Hyperlipidemia (elevated cholesterol)
  7. Hypogonadism (low testosterone)
  8. Idiopathic Leukopenia and Neutropenia (decreased white blood cells)
  9. Elevated Lipase - slightly elevated
  10. Corn Allergy - mild
  11. Gastritis - chronic
  12. Malabsorption
  13. Pituitary Prolactinoma (benign, 6mm) - he did not respond favorably to the drug used to treat, so no medication at this time, prolactin level has decreased, but it's still elevated
  14. Small Intestinal Bacterial Overgrowth (SIBO) - allergic reaction to the drug Rifaximin used to treat SIBO and is now taking herbals, with no improvement as of yet. Also on a strict low FODMAP diet.

Prescribed Daily Herbal Protocol For SIBO Treatment
Prescribed Daily Herbal Protocol For SIBO Treatment | Source

What This Mystery Disease is Not

What has been ruled out:

  1. Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease
  2. Blood Diseases
  3. Cancer or Malignancy (released and cleared by Hem-oncologist)
  4. Cardiac Disease
  5. Celiac Disease
  6. Diabetes
  7. Diabetes Insipidus
  8. Endocarditis
  9. Gallbladder Disease
  10. Gastroparesis
  11. Kidney Disease
  12. Liver Disease
  13. Lyme Disease - we still question whether this could be the culprit despite negative result
  14. MEN-1
  15. Multiple Schlerosis
  16. Pancreatitis
  17. Whipple's Disease

Completed Diagnostic Testing

Assume a negative or benign result unless specified in italics. (listed in alphabetical order)

  1. Abdominal Ultrasound
  2. Cardiac Echocardiogram
  3. Cardiac Stress Test
  4. Chest X-ray
  5. Colonoscopy - Polyp of the sigmoid colon
  6. CT Scan Chest and Abdomen w/wo Contrast
  7. CT Scan of Abdomen and Pelvis w/Contrast
  8. CT Scan of Mouth for Oral Cavitations
  9. ECG 12 Lead - sinus tachycardia, same time fever, and pneumonia diagnosed
  10. EKG
  11. EMG with Nerve Conduction - Carpal Tunnel Syndrome
  12. Endoscopy
  13. Enteroscopy - developed aspiration pneumonia a few hours post-procedure/chest pain and fever
  14. Gastric Emptying Study
  15. MRI, Pituitary w/wo Contract - Pituitary Adenoma

Completed Laboratory Testing

Assume negative or benign result unless specified in italics (listed in alphabetical order)

  1. 5-HIAA Urine 24-hour
  2. ACTH
  3. Aldolase
  4. ALPHA-1-ANTITRYPSIN QN
  5. Amylase & Lipase - mildly elevated Lipase
  6. Antinuclear Antibody
  7. Blood Cultures
  8. Breath Testing, Lactulose - +SIBO
  9. C-Reactive Protein
  10. Calprotectin, Fecal
  11. Carcinoembryonic Antigen
  12. CBC - Mild anemia
  13. Comprehensive Metabolic Panel
  14. Copper - pending
  15. Cortisol
  16. Creatine Kinase
  17. D-Dimer, Qualitative
  18. Electrolytes Stool
  19. Epstein Barr
  20. Fecal Fat
  21. Fecal Leukocytes
  22. Ferritin
  23. Flow Cytometry Whole Blood - Mixed phenotype, no monoclonal B cell population identified, see the comment. The peripheral blood shows a mixture of mature granulocytes, phenotypically normal T cells, B cells without light chain restriction, and monocytes. The findings are nonspecific and require clinical correlation.
  24. Folic Acid
  25. Follicle Stimulating Hormone
  26. Fungal Culture
  27. Gastrin
  28. Glucose - always borderline or slightly elevated
  29. H. Pylori Antigen EIA
  30. Heavy Metals - Positive for Organic Arsenic
  31. Homocysteine
  32. Hemoglobin A1C - Borderline
  33. Hepatitis Panel
  34. HIV
  35. IBD Expanded Panel
  36. IGF-1
  37. Immuno Occult Blood - Positive
  38. Influenza A/B
  39. Ionized Calcium
  40. Iron, TIBC, Transferrin - Low Iron
  41. Lipid Panel
  42. Luteinizing Hormone
  43. Lyme Antibody
  44. Lyme/Western Blot
  45. Magnesium
  46. Mayo Paraneoplastic AutoAB2
  47. Metanephrines, Fractionated Urine
  48. Metanephrines, Plasma
  49. Methylmalonic Acid Serum
  50. Microsporidia
  51. Mitochondrial and Smooth Muscle Antibody
  52. Mononucleosis
  53. Occult blood Stool - Positive
  54. Osmolality Stool
  55. Osmolality Urine
  56. Pancreatic Elastase, Fecal
  57. Parathyroid Hormone
  58. Peripheral Blood Smear - Atypical, reactive-appearing lymphocytes, which could reflect a viral or reactive process
  59. Phosphorus
  60. Prealbumin
  61. Prolactin - Hyperprolactinemia
  62. RPR
  63. Sedimentation Rate
  64. Stool Enteric Protozoan Panel
  65. Stool PCR
  66. Testosterone - Hypogonadism
  67. Thyroid Panel
  68. Troponin
  69. Urinalysis
  70. Vitamin B12
  71. Vitamin D
  72. WBC Stool
  73. Xylose Tolerance

Specialists Consulted to Date

  1. Acupuncture
  2. Cardiology
  3. Chiropractic
  4. Endocrinology
  5. Functional Medicine
  6. Gastroenterologist x2
  7. Hematology
  8. Holistic Dentist
  9. Immunology
  10. Infectious Disease
  11. Internal Medicine
  12. Neurology
  13. Nutritionist
  14. Oncology
  15. Ophthalmology
  16. Physical Therapy
  17. Precision Medicine

Alternative Treatments

My Son had his wisdom teeth extracted before starting college and there were instances of retained bone fragments and/or pieces of tooth that he would spit out from time to time. His general dentist (who also performed the surgery) was not concerned about that or his ongoing complaints of jaw and gum pain for years following the surgery.

For this concern, he has researched oral cavitations that house trapped bacteria that is thought to cause chronic infection in the body. He sought the assessment, advice, and ultimately tried ozone gas therapy from a holistic dentist. He received ozone therapy x1 for testing positive for these cavitations and very briefly felt a tad better. His symptoms do tend to wax and wane with short periods of increased energy, so it wasn't clear if this actually helped or not and there is much controversial debate on the topic.

Vaccinations Received

  1. Adenovirus
  2. Hepatitis A, B and C (has all positive titers)
  3. Influenza - not this season
  4. Meningococcal
  5. PPD
  6. Tdap
  7. Varicella
  8. MMR (positive titer, no vaccine)

The Quest For Optimal Health and Quality of Life

My best advice to anyone suffering from an undiagnosed condition is to keep pressing your care team to move forward and to never doubt yourself. Only you know how you feel and can accurately relay that information to your providers.

Practitioners must "treat the patient" and not the lab results. If you can't get answers, move on to another physician until you find someone who'll listen. It may take diligence and effort to make that happen, but don't be afraid to be proactive in your quest for help. Even if they tell you "it's all in your head" and suggest a psychiatric evaluation, go ahead and do it. It's the only way to prove your symptoms are not psychosomatic and get someone to listen and take your situation seriously. Do not ever give up, do your homework, read, and network like I'm doing now.

Sometimes it takes an army to get answers and you'll have to fight small and seemingly never-ending battles to get answers. It's worth the fight to get your life back and feel good again.

Other Daily Supplements Taken To Improve Gut Heath
Other Daily Supplements Taken To Improve Gut Heath | Source

The Undiagnosed Disease Network at the National Health Institute - DENIED

An application was submitted to the National Institute of Heath (NIH) in Bethesda, MD, for the Undiagnosed Disease Network (UDN) in late September 2018 and his case was ultimately declined in late February 2019. We had high hopes for his acceptance, as this was our his last hope at more in-depth testing with experts who specialize in this arena, and the application process was quite involved. This was a huge disappointment after such a long waiting process.

Current Leads and Closed Doors

My son was under the expert care of John's Hopkins, in Maryland, from the onset of his symptoms until May 2019 when he and his family moved back to our hometown. It was a fight the first two months to get to that point as his complaints were mostly disregarded and he was referred for psychiatric evaluation instead. He could only see a Physician's Assistant and never a doctor, which was beyond frustrating.

My son's wife and I escalated a series of emails and phone calls to get his case reviewed and finally transferred to internal medicine and other specialists. This team thoroughly looked for everything imaginable but was unable to diagnose his condition.

My son is now under the care of a local M.D. and in search of a new internist to take on his case. We have been fortunate to have connected with a renowned pathologist at a major university, thanks to this blog! This physician and the university team (who practice Precision Medicine) is now actively and aggressively working to find a diagnosis. I will share more about this as I'm permitted. We are very hopeful and excited to have such an expert on board. More to come, so please follow and stay tuned.


This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

Questions & Answers

  • Where does Vibrio bacteria come from?

    I believe it comes from contaminated seafood.

© 2018 Debra Roberts

Comments

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    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      3 months ago from Ohio

      Sadly, no. We are still hoping for this post to somehow go viral enough to fall into the right hands.

    • profile image

      jerry godinho 

      3 months ago

      Thanks for writing on mystery illness. Modern medicine does not have all the answers. I use chiro, naturapath and massage therapy and also try to heal health. Thanks for writing a wonderful and insightful post.

    • profile image

      Snehal 

      3 months ago

      This is so sad and confusing at the same time. I really wish someone is able to help. Or did you find help yet?

    • Melody Dunithan profile image

      Melody Dunithan 

      4 months ago from Indiana

      An undiagnosed illness that goes for a long time is scary. I pray that someone will be able to relate to this and have information that will help. I hope the surgery has a positive impact. I have no great medical connections, but perhaps, someone down the road does. I've shared in the hopes that others will, too.

    • profile image

      Megan Kerry 

      5 months ago

      This is such a thorough post. I am so sorry for what your family has been through. I hope this information can reach someone who is able to come up with an answer for you. I am a nurse as well in Canada so I'll share this with some people I know in the hopes that it might spark something.

    • profile image

      Erica (The Prepping Wife) 

      5 months ago

      Wow, the amount of challenges your son faces is insane! I’m so sorry. The amount of time with doctor visits and testing has to be both physically and emotionally taxing on both of you. Big hugs to you both!

    • profile image

      Andrea (2oddravens) 

      5 months ago

      I hope that you're able to find some answers soon! It is awful having a condition that you can't really get help for because the doctors don't know what is going on. I pray for your son's health, and that he has a healthy, happy life.

    • profile image

      Subhashish Roy 

      5 months ago

      As it is illnesses are scary. And if it is a mystery illness it must be so tough dealing with the unknown.I feel for your son.I pray, may God bless him & cure him.

    • profile image

      Thuy 

      5 months ago

      I sincerely hope you find the answers you are looking for and that whatever it is can be treated! It’s so scary to not know what is happening to a family member and I’m sending you all my best wishes

    • profile image

      Candace 

      5 months ago

      Stay diligent! I pray your son gets some answers soon.

    • profile image

      Candace 

      5 months ago

      This is so thorough. These doctors need to have more concern and awareness when it comes to treating illnesses. I pray he gets better soon.

    • profile image

      Lindsay Brown 

      5 months ago

      Reading about this makes my heart so sad for you and your son. The intense amount of testing he has gone through must be tough in and of itself and then not finding any concrete answers, infuriating. I pray that your family finds the answers and a diagnosis soon.

      In the meantime, if you are still looking to get your post here to go viral, have you tried submitting it to secondary sites? I know that Thought Catalog publishes posts similar to this and their submission process is simple. It may help get your message out there to new eyes.

      You and your son are in my thoughts. Good luck with finding the answers you are looking for.

    • profile image

      Live Learn better 

      5 months ago

      I can only imagine the fortune gone into this. All I can pray for is that God's divine healing hands touch him.

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      5 months ago from Ohio

      He is a military reservist, but has only spent a few weeks in Germany and then in New Mexico for his job for 4 months...which ironically, he fell severely ill shortly after that assignment. We can't find any correlation though. I will look into the radium; I do not think that one has been checked. Lyme never leaves the list of possibilities. He has been an avid outdoorsman all his life, so we are suspicious.

    • profile image

      Lauren Forsythe 

      5 months ago

      He's gone through a lot of tests, and I pray you figure out what is wrong soon! My first thought is that this sounds like Lupus or something else autoimmune. I saw he was negative for the ANA test. However, I think there are a small amount of people that have Lupus but a negative ANA. I could also understand how Lyme disease hasn't been completely ruled out.

      Does your son have any travel history to other countries?

      Has radium toxicity been ruled out? He sounds similar to the radium girls story where they had an unknown illness that started in the jaw and moved systemically.

      Was he ever deployed in the military? I know there are some people struggling with undiagnosed disease from burn pits they were exposed to while deployed.

    • profile image

      Carol 

      5 months ago

      The battery of test he’s been through is extensive. I pray you find the underlying cause. Great advice about pressing the medical team and going with your gut.

    • profile image

      quidindustries@gmail.com 

      5 months ago

      I seriously hope you can find some answers. This is so sad, and I feel bad for him, having to go through that. This could be any of us! Praying you find out what is going on and also for his speedy recovery!

    • profile image

      Scott DeNicola 

      5 months ago

      When I originally read this I was thinking some form of Celiac. You mentioned what’s happening today with so many IBS and Celiac cases and it has to do with how we have changed wheat in this country. From what I’ve seen and read years ago there was a change to have our wheat produce more per field and that change in the wheat is not tolerated by our bodies. That’s why people can’t eat wheat in the US but go to Italy and have no problem with it. I’m not a doctor by any means but there are a few documentaries on it. What’s with Wheat is one I recall. I’ve also read a lot about gut health causing all sorts of other issues like inflammation etc. I hope you find out what’s going on with him and god bless you both.

    • profile image

      clio 

      5 months ago

      So sorry for your son! And thank you for sharing this journey, so that others can contrbute or benefit from the experience.. I hope they can soon find out more about this! Best of luck.

    • profile image

      Laura 

      8 months ago

      I am so sorry your son is going throyfh all this. I am sending prayers. Yes, i will definately share this on my page. I hope you find some answers soon.

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      8 months ago from Ohio

      I will ask about the D-Robose.

      He did have allergy testing in the summer and all they found was corn sensitivity. I wonder if the testing was not a comprehensive panel that they did on my son? Worth checking into.

      How are you feeling now and how long did all of this take to diagnose?

    • profile image

      Tia 

      8 months ago

      I have a lot of similar symptoms and had similar difficulty getting any help from doctors. I have two suggestions that might be useful:

      1. Has your son tried D-Ribose as a supplement? It can help a lot with chronic fatigue for some people. In my case, it helped me feel better, and it also helped me figure out what the root cause of the problem was, because instead of feeling constantly awful, I only felt awful sometimes. Eventually, I was able to see the pattern.

      2. For me, the problem is mold. I have a confirmed (skin-prick-tested) mold allergy, but many doctors don't seem to realize that mold can be a food allergy, too. It sounds like your son has had enough testing done that he would know by now if he is allergic to mold, but in case not ... it might be worth checking.

      3. This suggestion is a bit "out there" but there is increasing interest in microbiome analysis. Maybe your son could find answers that way? Just a thought ... I have no experience with this.

      I hope you find the answers you are looking for.

    • profile image

      Emily 

      8 months ago

      I am so sorry to hear all of this. I hope that y'all get the answers that you need and that your son has a full recovery to health. I am wishing the best of luck!

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      8 months ago from Ohio

      Hi Sally, thank you for your kind words and suggestion. I’m so sorry to hear of another person suffering from so many of these symptoms. I’m glad you have a working diagnosis. I feel like I’m coming across more and more people with Crohn’s, IBS and Celiac, And it makes me wonder what we are doing today that precipitates so many of these diseases. What is in our diets or the environment that could causing so much turmoil in our bodies? I’d be interested in hearing how you cope day to day with these symptoms, what helps, and what exacerbates them?

    • profile image

      Sally McNeil 

      8 months ago

      I am so sorry your son is enduring these debilitating symptoms. I myself endure the majority of the symptoms listed, and have been diagnosed with a multitude of conditions, unfortunately all of which I will have for the rest of my life. When reading your story the first thing that came to mind was Crohn's disease, but i see your son has consulted 2 X Gastroenterologists and has undergone a conlonoscopy and nothing of this nature was found. Thats not

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      8 months ago from Ohio

      Kathy Kulp...looking into it now, thank you!

    • profile image

      Kathy Kulp 

      8 months ago

      Please consider a reading from the Medical Medium who channels spirit and has much success!!!! Please do this!

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      8 months ago from Ohio

      Gingeber,

      Thank you! He lives on the east coast, so no, he has not tried the Mayo Clinic yet. May I ask what your mystery diagnosis is? (you can message me if you'd prefer to not announce it publicly).

    • profile image

      Gingeber 

      8 months ago

      I was wondering if you had considered going to the mayo clinic?

      I went as a last resort and was finally given a diagnosis after three years

      Of many specialists not having a clue. Sending prayers that you get your

      Answer soon.

    • Deb Vesco Roberts profile imageAUTHOR

      Debra Roberts 

      8 months ago from Ohio

      Thank you Susan, I will do whatever it takes for him to get his life back! Yes, he has had both air and water testing at their home. That was done after he tested positive for high levels of arsenic, which has been deemed to be organic arsenic in nature and no longer a concern. Great question!

    • Mekenzie profile image

      Susan Ream 

      8 months ago from Michigan

      You are a mom who will uncover all stones to find a cure for your dear son. My heart hurts for you. Have you had your home inspected by an indoor air quality specialist for mold or chemical toxicities?

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