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Undiagnosed Mystery Illness: Where Do We Go From Here?

Updated on December 18, 2018
Deb Vesco Roberts profile image

As a nurse and mother, I am helping my adult son find a diagnosis for a mystery illness and help others who may be suffering, find help too.

Source

Disclaimer and Release of Liability

The purpose of this article is to educate and increase awareness about mystery illnesses based on this shared personal experience. We do hope that it may also stand out as recognizable with the public and medical community, that could lead to viable treatment. No person will be held liable for any shared advice or suggestions.

With My Son's Permission

As a concerned mother and registered nurse, I am sharing the story of my adult son's mystery illness with the hope that it will yield some leads that might help us figure out his undiagnosed illness. The more I read and research, the more I'm learning that mystery diagnoses are not uncommon and that many people have a lifetime of suffering and unanswered questions about what is wrong with them.

This illness has taken him to a debilitated state in less than one year. He is a husband, father, law enforcer, and military reservist, who has been on medical disability since June of this year. He, like many others who suffer in this capacity, is in need of answers so that he can continue to care for his growing family and return to the work force and regain his quality of life by ending the daily suffering.

With permission from my son, I am writing this article with the the hope of it going viral to the degree that it falls into the expert hands of someone who might be able to identify a diagnosis that could ultimately lead to a successful treatment plan. I will continue to write articles based on any findings, so that others can benefit from this research.

I have listed below, every test and procedure that has taken place during the worst stages of his illness that started in March 2018 to November 2018 (present).

I welcome any input based on personal or professional research or experience that could possibly identify a cause for this very perplexing scenario or if you wish to share a similar story, I welcome those in the comment section below. I appreciate and respect any and all experts who might also have insight to this very difficult illness.

For the sake of privacy, I will keep my son's name and any other personal, identifying information, such as the name of his physicians and medical treatment facilities, confidential.

A Strong Man Taken Down By a Disease Unknown

2016
2016 | Source

Background and Medical History

Until about a year ago, my 29-year-old 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 that he eventually outgrew. His only childhood concerns were 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 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 was 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 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 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.

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. Joint pain
  16. Lightheaded, faint, dizzy
  17. Loose stools and intermittent diarrhea
  18. Loss of all muscle mass
  19. Memory fog
  20. Muscle cramping and fasciculations
  21. Muscle function loss
  22. Muscle loss - extensive
  23. Nausea, often severe
  24. Painful swallowing/persistent lump in throat
  25. Poor coordination
  26. Pounding heart also felt in other areas of the body
  27. Sharp ear pain
  28. Shortness of breath
  29. Tingling of the skin
  30. Tongue feels coated
  31. Unintentional weight loss of 40lbs (from February - May 2018)

Confirmed Diagnoses Thus Far

  1. Anemia - mild, chronic
  2. Carpal Tunnel Syndrome - (EMG)
  3. Declining Platelets - 207,204,190,185,168,169,162
  4. Hyperprolactinemia (elevated Prolactin)
  5. Hyperlipidemia (elevated cholesterol)
  6. Hypogonadism (low testosterone)
  7. Elevated Lipase - slightly elevated
  8. Corn Allergy - mild
  9. Gastritis - chronic
  10. Malabsorption
  11. 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
  12. 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

Source

What This Mystery Disease is Not

What has been ruled out:

  1. Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
  2. Cancer or Malignancy
  3. Cardiac Disease
  4. Celiac Disease
  5. Diabetes
  6. Gallbladder Disease
  7. Gastroparesis
  8. Kidney Disease
  9. Liver Disease
  10. Lyme Disease - we still question whether this could be the culprit despite negative result
  11. Multiple Schlerosis
  12. Pancreatitis
  13. Whipple's Disease

Completed Diagnostic Testing

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

  1. Abdominal Ultrasound
  2. Cardiac Stress Test
  3. Chest X-ray
  4. Colonoscopy - Polyp of sigmoid colon
  5. CT Scan Chest and Abdomen w/wo Contrast
  6. CT Scan of Abdomen and Pelvis w/Contrast
  7. ECG 12 Lead - sinus tachycardia, same time fever and pneumonia diagnosed
  8. EKG
  9. EMG with Nerve Conduction - Carpal Tunnel Syndrome
  10. Endoscopy
  11. Enteroscopy - developed aspiration pneumonia a few hours post-procedure/chest pain and fever
  12. Gastric Emptying Study
  13. 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. Adolase
  4. Amylase & Lipase - mildly elevated Lipase
  5. Antinuclear Antibody
  6. Blood Cultures
  7. Breath Testing, Lactulose - +SIBO
  8. C-Reactive Protein
  9. Calprotectin, Fecal
  10. Carcinoembryonic Antigen
  11. CBC - Mild anemia
  12. Comprehensive Metabolic Panel
  13. Copper - pending
  14. Cortisol
  15. Creatine Kinase
  16. D-Dimer, Qualitative
  17. Electrolytes Stool
  18. Epstein Barr
  19. Fecal Fat
  20. Fecal Leukocytes
  21. Ferritin
  22. Flow Cytometry Whole Blood - Mixed phenotype, no monoclonal B cell population identified, see 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.
  23. Folic Acid
  24. Follicle Stimulating Hormone
  25. Fungal Culture
  26. Gastrin
  27. Glucose - always borderline or slightly elevated
  28. H. Pylori Antigen EIA
  29. Heavy Metals - Positive for Organic Arsenic
  30. Homocysteine
  31. Influenza A/B
  32. Hemoglobin A1C
  33. Hepatitis Panel
  34. HIV
  35. IBD Expanded Panel
  36. IGF-1
  37. Immuno Occult Blood - Positive
  38. Iron, TIBC, Transferrin - Low Iron
  39. Lipid Panel
  40. Luteinizing Hormone
  41. Lyme Antibody
  42. Lyme/Western Blot
  43. Magnesium
  44. Mayo Paraneoplastic AutoAB2
  45. Metanephrines, Fractionated Urine
  46. Metanephrines, Plasma
  47. Methylmalonic Acid Serum
  48. Microsporidia
  49. Mitochondrial and Smooth Muscle Antibody
  50. Mononucleosis
  51. Occult blood Stool - Positive
  52. Osmololity Stool
  53. Osmololity Urine
  54. Pancreatic Elastase, Fecal
  55. Peripheral Blood Smear - Atypical, reactive-appearing lymphocytes, which could reflect a viral or reactive process
  56. Phosphorus
  57. Prealbumin
  58. Prolactin - Hyperprolactinemia
  59. RPR
  60. Sedimentation Rate
  61. Stool Enteric Protozoan Panel
  62. Stool PCR
  63. Testosterone - Hypogonadism
  64. Thyroid Panel
  65. Troponin
  66. Urinalysis
  67. Vitamin B12
  68. Vitamin D
  69. WBC Stool
  70. Xylose Tolerance

Specialists Consulted to Date

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

An application has been submitted to the National Institute of Heath for Undiagnosed Disease Program and is still pending review and acceptance (submitted 9/2018).

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 son is under the care of the Chief of Internal Medicine as well a team of specialists at a, highly regarded, East-coast hospital system and we are pleased with the quality of care that his is receiving, but it took a bit of a fight in the first two months to get to this point. His complaints were being disregarded by his initial practitioners and he could only be seen by a Physician's Assistant. After escalating a series of complaints, his case was reviewed and transferred to the Internist he sees now. This current team of specialists have thoroughly looked for everything imaginable, but have not been successful in diagnosing his condition and every lead has proven to be benign in figuring out this very complex case.

My best advice to anyone who is suffering with 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 will listen; it may take diligence and effort to make that happen, but do not 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, do it. It's the only way to prove that your symptoms are not psychosomatic and to get someone to listen and take your situation seriously. Do not ever give up, do your homework, read, and network, which is what I am doing now.

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

Other Daily Supplements Taken To Improve Gut Heath

Source

© 2018 Debra Roberts

Comments

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    • profile image

      Laura 

      4 weeks 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 

      5 weeks 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 

      5 weeks 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 

      6 weeks 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 

      7 weeks 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 

      7 weeks 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 

      7 weeks ago from Ohio

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

    • profile image

      Kathy Kulp 

      7 weeks 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 

      7 weeks 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 

      7 weeks 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 

      7 weeks 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 

      7 weeks 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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