Undiagnosed Mystery Illness: When Every Lead Has Failed
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 the 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 wrote this article with the hope it goes viral and falls into the hands of expert medical professionals or researchers who can identify a diagnosis and ultimately, a successful treatment plan. I'll continue to edit this article based on new findings.
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, 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.
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 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 in 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 are solid muscle mass.
There's no significant family medical history besides renal and liver cancer of his maternal father and maternal grandmother.
Complete List of Symptoms
(The listed symptoms wax and wane, 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
- Abdominal pain, upper and lower, focused on left side primarily
- Blurred vision (most recent symptom)
- Chest pain & pressure
- Cold hands and feet
- Extreme fatigue & overall weakness
- Eye pressure
- Feelings of heart attack (normal EKG)
- Gastroesophageal Reflux Disease aka GERD (diagnosed 6/2017)
- Hair loss/thinning
- Hot flashes
- Inability to exercise or exert
- Intolerance to most foods
- Jaw pain (since high school, chronic)
- Joint pain
- Lightheaded, faint, dizzy
- Loose stools and intermittent diarrhea
- Loss of all muscle mass
- Memory fog
- Muscle cramping and fasciculations
- Muscle function loss
- Muscle loss - extensive
- Nausea, often severe
- Numbness and tingling in feet (newest symptom)
- Painful swallowing/persistent lump in the throat
- Poor coordination
- Pounding heart also felt in other areas of the body
- Red bumps on feet (newest symptom)
- Sharp ear pain
- Shortness of breath
- Tingling of the skin
- Tongue feels coated
- Unintentional weight loss of 40lbs (from February - May 2018)
Confirmed Diagnoses Thus Far
- Anemia - mild, chronic (hematology is not concerned; states very mild)
- Carpal Tunnel Syndrome - (EMG)
- 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.
- Declining Platelets - 207,204,190,185,168,169,162
- Hyperprolactinemia (elevated Prolactin)
- Hyperlipidemia (elevated cholesterol)
- Hypogonadism (low testosterone)
- Idiopathic Leukopenia and Neutropenia (decreased white blood cells)
- Elevated Lipase - slightly elevated
- Corn Allergy - mild
- Gastritis - chronic
- 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
- 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.
What This Mystery Disease is Not
What has been ruled out:
- Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease
- Blood Diseases
- Cancer or Malignancy (released and cleared by Hem-oncologist)
- Cardiac Disease
- Celiac Disease
- Diabetes Insipidus
- Gallbladder Disease
- Kidney Disease
- Liver Disease
- Lyme Disease - we still question whether this could be the culprit despite negative result
- Multiple Schlerosis
- Whipple's Disease
Completed Diagnostic Testing
Assume a negative or benign result unless specified in italics. (listed in alphabetical order)
- Abdominal Ultrasound
- Cardiac Echocardiogram
- Cardiac Stress Test
- Chest X-ray
- Colonoscopy - Polyp of the sigmoid colon
- CT Scan Chest and Abdomen w/wo Contrast
- CT Scan of Abdomen and Pelvis w/Contrast
- CT Scan of Mouth for Oral Cavitations
- ECG 12 Lead - sinus tachycardia, same time fever and pneumonia diagnosed
- EMG with Nerve Conduction - Carpal Tunnel Syndrome
- Enteroscopy - developed aspiration pneumonia a few hours post-procedure/chest pain and fever
- Gastric Emptying Study
- MRI, Pituitary w/wo Contrast - Pituitary Adenoma
Completed Laboratory Testing
Assume negative or benign result unless specified in italics (listed in alphabetical order)
- 5-HIAA Urine 24-hour
- ALPHA-1-ANTITRYPSIN QN
- Amylase & Lipase - mildly elevated Lipase
- Antinuclear Antibody
- Blood Cultures
- Breath Testing, Lactulose - +SIBO
- C-Reactive Protein
- Calprotectin, Fecal
- Carcinoembryonic Antigen
- CBC - Mild anemia
- Comprehensive Metabolic Panel
- Copper - pending
- Creatine Kinase
- D-Dimer, Qualitative
- Electrolytes Stool
- Epstein Barr
- Fecal Fat
- Fecal Leukocytes
- 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.
- Folic Acid
- Follicle Stimulating Hormone
- Fungal Culture
- Glucose - always borderline or slightly elevated
- H. Pylori Antigen EIA
- Heavy Metals - Positive for Organic Arsenic
- Hemoglobin A1C - Borderline
- Hepatitis Panel
- IBD Expanded Panel
- Immuno Occult Blood - Positive
- Influenza A/B
- Ionized Calcium
- Iron, TIBC, Transferrin - Low Iron
- Lipid Panel
- Luteinizing Hormone
- Lyme Antibody
- Lyme/Western Blot
- Mayo Paraneoplastic AutoAB2
- Metanephrines, Fractionated Urine
- Metanephrines, Plasma
- Methylmalonic Acid Serum
- Mitochondrial and Smooth Muscle Antibody
- Occult blood Stool - Positive
- Osmolality Stool
- Osmolality Urine
- Pancreatic Elastase, Fecal
- Parathyroid Hormone
- Peripheral Blood Smear - Atypical, reactive-appearing lymphocytes, which could reflect a viral or reactive process
- Prolactin - Hyperprolactinemia
- Sedimentation Rate
- Stool Enteric Protozoan Panel
- Stool PCR
- Testosterone - Hypogonadism
- Thyroid Panel
- Vitamin B12
- Vitamin D
- WBC Stool
- Xylose Tolerance
Specialists Consulted to Date
- Functional Medicine
- Gastroenterologist x2
- Holistic Dentist
- Infectious Disease
- Internal Medicine
- Physical Therapy
- Precision Medicine
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.
- Hepatitis A, B and C (has all positive titers)
- Influenza - not this season
- 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.
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 in search of a new internist to take on his case. We've been fortunate to have connected with a renowned pathologist at a major university, thanks to this blog! The university team (who practice Precision Medicine) was actively and aggressively working to find a diagnosis, but this has since ceased and we are trying to reignite this connection. More to come, so please follow and stay tuned and if anyone reading this has any suggestions, please reach out to me.
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.Helpful 1
© 2018 Debra Roberts