The story of Michael
My name is Michael and my nickname is 1RareZebra. A zebra is someone who has rare medical condition(s) and in my case (4) of them. I may appear fine to most on the outside (hence the term “invisible illness”). While one of these conditions alone is disabling and life-impacting: sharing this many is certainly not easy. Without having any knowledge of these conditions while growing up, it all makes sense now as to why I had to work twice as hard as the average person in many circumstances throughout my life just to keep up. It wasn’t until the last few years that more answers were found. My mission now, is to help others in similar circumstances navigate their way through this life-altering journey.
In 2020, I almost made it onto the TV show “Chasing the Cure” hosted by Ann Curry and was featured as a top case study. The show was ultimately cancelled but the following is what I submitted and want to share with the Rare Disease forum:
* DERCUM’S DISEASE: I was diagnosed in 2019. It is one of the rarest and most painful conditions in the world. It is a progressive disorder affecting connective tissue, adipose tissue, lymphatic & immune system. There is no cure. I have hundreds of debilitatingly painful tumors (lipomas & angiolipomas) growing underneath the skin and on certain organs: pressing against nerves/muscles/joints throughout my entire body. Some are palpable yet some unseen without a specialized setting via MRI or specialized ultrasound. Most exercise and average daily stressors expedite the growth of these painful tumors; or cause flare-ups of existing ones. My tumors tend to be of various sizes (rice to fist sized) diffuse + nodular (mixed type) and positioned deeper in body (arms, back, jaw, shoulders, chest, throat, ribs, abdomen, legs, hips, brain, etc..).
“The best way to describe the pain of DD is imagine putting on a tight scuba wet suit filled with rocks, pebbles, grains of rice, golf balls and hard oranges all covering your entire body and imbedding themselves through your muscles, nerves, tissue and organs. Now imagine nobody believing you when you say it hurts to wear this wet suit”
Dercum’s is an insidious disease that doctors have seldom heard of and many say, “lipomas aren’t painful”. DD patients are told to simply lose weight, change our diets, etc.. Studies reveal that surgically removing them oftentimes causes regrowth of more; thus no long-term pain relief. This condition also affects other systemic bodily functions and causes chronic fatigue, mobility issues, lymphedema, concentration issues, muscle weakness and extreme resistance to weight loss. Liposuction is preferred over individual excisions. That’s not a cure but can provide a (transitory) quality of life improvement that most medical insurances don’t cover as they consider it “cosmentic” when in my case, it’s life altering. For more info on DD please visit:
* EHLERS-DANLOS SYNDROME (hEDS): I was diagnosed in 2017. Considered an overall rare connective tissue disorder (genetically defective collagen production) causing systemic and musculoskeletal issues along other comorbidities (like POTS and MCAS) with NO CURE.
“ Collagen is the glue that keeps everything together in the body. Those who suffer from hEDS feel like a broken doll sewed together with the seams constantly coming apart. The body feels like a rubber band that has been overstretched remaining in that position and is incredibly painful and unpredictable.”
There are currently thirteen (13) known types and I have the Hypermobility type. There is no genetic marker yet identified for hEDS. There are certain overlaps of the various sub-types and affects everyone differently. In my case, it causes random painful dislocations and subluxations of various body parts such as shoulders, ankles, knees, spine, hips and ribs. Also poor wound healing, scarring issues, hernias, neurological issues, random musculoskeletal stabbing pain, cramps, body misalignment, brain fog, fatigue, poor metabolization of topical/internal analgesics and anesthetics, etc…”. For more information please visit: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
* CUSHING’S SYNDROME: : I was diagnosed in 2016. Mine was due to a rare adrenal tumor causing high cortisol production and was “cyclic”. I did not show the “classic” physical signs of Cushing’s so was even harder to diagnose. I was often-times dismissed due to my other conditions or lack of awareness. I had to remain diligent as a growth the size of a grain of sand was found on my right adrenal gland. It was listed as an “incidental” on my reports that my mother noticed. After many years and tests, my cortisol was confirmed high. I was advised to get gastric bypass surgery to lose weight (caused by Cushing’s) in lieu of adrenalectomy. One simply cannot lose weight with Cushing’s. Having gastric bypass with Dercum’s Disease, hEDS and Cushing’s could have further negatively impacted my life, so I refrained. The adrenal tumor grew, as did my cortisol readings so finally an adrenalectomy was approved after numerous cancelations. During the biopsy they identified two (2) tumors in one. Per the post-surgical biopsy, the main adrenal tumor was encased in another separate tumor (not seen on scans – only after surgery). I suspect it was encased in a Dercum’s tumor. While my cortisol stabilized once my left adrenal “woke up” now it’s on the low side again! For more information please visit: https://rarediseases.org/gard-rare-disease/6224/cushings-syndrome/
Mast Cell Activation Syndrome (MCAS): I was diagnosed in 2019. A mast cell (also known as a mastocyte or a labrocyte) is a migrant cell of connective tissue that contains many granules rich in histamine and heparin. Specifically, it is a type of granulocyte derived from the myeloid stem cell that is a part of the immune and neuroimmune systems. Mast cell activation syndrome (MCAS) is a condition with signs and symptoms involving the skin, gastrointestinal, cardiovascular, respiratory, and neurologic systems. Mast cells are present throughout most of our body. They can also be paired with neurons (nerve cells), including autonomic nerve fibers. Each person may have a different reaction within their body. This causes me tachycardia, swelling, allergic reactions, fatigue, bloating, difficulty swallowing, chemical product sensitivity, etc.. For more information, please visit: https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome/
COMORBIDITIES STEMMING FROM THE ABOVE-MENTIONED:
• Lipoma in Brain: wrapped around posterior/splenium section of the Corpus Collasum
• Arachnoid cyst (base of skull)
• Tortuosity with loops of upper cervical internal carotid arteries (twisted arteries).
• Prominent retro cerebellar CSF space which may represent an arachnoid cyst. • Right Bundle Branch Block with suspected Dysautonomia
• Arthralgia (severe Joint Pain)
• Back Pain: Scoliosis, Spinal Stenosis, Herniated Discs, Bulging Discs, Fissures (L4-S1)
• Positive Antinuclear antibody (devoid of Lupus)
• Early onset body-wide Osteoarthritis, Bursitis, Tendonitis, Muscular issues, Hip Pain, Daily random radiating pain and overall body stiffness
• Abdominal Hernias & Diastasis Recti
• Episodes of low cortisol (Adrenal Insufficiency)
• Metabolically resistant or allergic to mostly ALL major pain medications including all Opioids, Morphine, Fentanyl, Naltrexone + Lidocaine, Ketamine and even Caffeine (after numerous negative encounters from prescriptions/procedures and nobody believing me I had this confirmed by out-of-pocket pharmacogenetic testing)
• Chronic Cystitis and Pyelonephritis: resistant to a growing list of antibiotics (cause unknown after scans/scopes and showing multiflora occurrences)
• 6 pre-cancerous Thyroid Nodules (devoid of Hypothyroidism).
• Positive genetic marker/carrier for Gilbert’s Syndrome, IgA, IgG and igM immunoglobulins tested and in normal state
• Costochondritis
• Chronic Fatigue
• Lymphedema
• Hypertriglyceridemia (caused by Dercum’s not diet)
• Seeing white flashes of light when base of neck is tapped. Sensitivity to flashing strobes and photophobic along with phantosmia (Electroencephalogram tests were negative). Not tested for Chiari Malformation.
• Complex Sleep Conditions: Central Sleep Apnea, Obstructive Sleep Apnea, Deviated Septum, Insomnia, Periodic Sleep paralysis and conversely, Synesthesia.
• Digestive: Diverticulosis, Abdominal Distention, Nausea and Hypoglycemia • Excessive growth of cherry angiomas (several hundred)
• Metabolically resistant to weight loss
• Mental fog affecting executive functions (precipitated by conditions)
I’ve been examined by top specialists in various prestigious clinics and practices: Geneticist, Primary Care, Neurology, Pain Management, Surgeons, Endocrinology, Rheumatology, Cardiology, Sleep Specialists, NeuroPsychology, Oncology, Physical Therapy, etc..
I’m hoping that with advancements in Genetic Research that there are entities that want to study those of us left behind by complex multiple conditions. My dream would be to have a team of researchers to collect our DNA to find the commonalities & genetic markers for future generations so that they can perhaps have a better quality of life.
The list of modalities I’ve tried to maintain quality of life is extensive (traditional medicine, functional medicine, nutraceuticals, mind-body work). Fighting with your own body is challenging. Advocating for yourself is critical, but exhausting. The hardest part of the journey was being dismissed and demeaned by medical professionals. The toughest part now is getting quality care and finding specialists that want to learn and help. Never give up!
In closing, I’ve lost many things due to my progressive health conditions but need to continue fighting for solutions and quality of life. In the past I was a martial artist, avid hiker, fisherman, photographer, massage therapist, musician, writer and worked hard for 25 years in the corporate world as a regional manager. I ultimately had to go on disability (SSDI) much too young. I learned that living with disability from chronic illness includes a mourning phase of your past life. It can be very cold & isolating (especially if one has a smaller support network). I’m very thankful for those who are still walking with me on this life path and will do whatever I can to continue to help others.
Thank you for reading my journey,
Michael 1RareZebra