Undiagnosed Mystery Illness and How to Proceed When Every Lead Has Failed
The Grueling Pain and Suffering of Undiagnosed Illness
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 the present day.
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.
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 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 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. He had his wisdom teeth extracted prior to starting college and there were many 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.
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
- 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 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 dentist tried ozone treatment, which helped in terms of energy afterwards 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)
- 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
- 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 negative or benign result unless specified in italics. (listed in alphabetical order)
- Abdominal Ultrasound
- Cardiac Stress Test
- Chest X-ray
- Colonoscopy - Polyp of 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 Contract - 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 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
- Osmololity Stool
- Osmololity 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 - Ozone gas injections
- Infectious Disease
- Internal Medicine
- Physical Therapy
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.
- 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 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 was only being 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.
Current Leads and Closed Doors
After over six months since having applied to the National Health Institute's "Diagnosed Disease Program" and many repeated transmissions and mailing of medical records and follow-up phone calls, my son received the unfortunate news, on 2/25/19, that they will not be able to accept him into their program. It's been approximately 15 months since his illness progressed to the maddening state that it is in now.
In early February 2019, while continuing to do more and more research into his mystery illness, my son found the documentary "The Root Cause" (see the trailer and review below) and instantly made a connection to the chronic issues he has from having had his wisdom teeth extracted just prior to college in 2007. He continues to suffer from jaw and gum pain to this day. He had complications from his surgery (pain and retained tooth fragments) that his general dentist, who also performed the surgery, has dismissed on many dental visits.
On 2/26/19, my son saw a holistic dentist for a 3-hour workup consisting of CT scan, ultrasound, and other tests. He was found to have numerous cavitations, some that have even spread to form new ones. He is slated to have surgery as soon as possible. We do not know if this will be the answer to his condition, but it's the only thing we have going at this time. I will continue to update this post once the surgery has been completed.
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