- CASE FILE
Hundreds of excruciatingly painful tumors body-wide + Connective Tissue Disorder w/Rare Complex Conditions: DERCUM'S, hEDS, MCAS, CUSHING'S
ABOUT THIS CASE FILE
Diagnosed with Dercum's Disease, Ehlers-Danlos Syndrome (hEDS), Mast Cell Activation Syndrome (MCAS), Cushing's Syndrome and other comorbidities. All considered rare conditions - and in some cases even scarcer in men. Infamously known in the medical community as a “complex” medical case; this means that receiving proper care is challenging even after diagnoses.
I don’t mind sharing this in public because these are the facts and consolidates everything because this could also help someone else or me one day:
* Dercum's Disease: One of the rarest and most painful conditions in the world. The condition is over 100 years old – yet the cause is still unknown, WITH NO CURE. It is suspected to be an adipose tissue/lymphatic/connective tissue or immune disorder. I have 100’s of debilitatingly painful fatty tumors (Lipomas and Angiolipomas) growing underneath the skin and on certain organs: pressing against nerves/muscles/joints throughout my entire body. Everyday feels like constant burning, stabbing, throbbing. Some patients suffer from over 1,000 painful lipomas/angiolipomas. They can become disturbingly visible and most are unidentifiable without an intricate setting via MRI or specialized ultrasound. My growths tend to be of various sizes (grain of rice up to fist sized) diffuse & nodular (mixed type) and positioned deeper in comparison to others (arms, back, jaw, shoulders, chest, throat, ribs, abdomen, legs, hips, brain, etc..). Exercise and many types of physical/emotional stressors expedite the growth of these painful tumors; or cause more painful flare-ups. This is an insidious disease and most doctors have never heard of it and say, “lipomas aren't painful” and simply tell you to lose weight or suggest surgically removing them. Limited studies and currently identified Dercum’s patients reveal that surgically removing them oftentimes causes several more to grow in their place; thus no long-term pain relief. In my case, due to a separate connective tissue disorder (hEDS), surgery on so many painful growths are not an option - nor was it recommended by my Geneticist, Endocrinologist or a top Oncology Surgeon so basically have to live with the pain. Consequently, on top of the pain, this condition also affects other systemic bodily functions and causes extreme fatigue.
* Ehlers-Danlos Syndrome (hEDS): 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 so patients who suffer from this feel like a broken doll sewed together with the seams constantly coming apart. There are 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... The body feels like a rubber band that has been overstretched remaining in that position and is incredibly painful. Medical professionals are not overly familiar with this condition and often-times dismissed it as “all in your head”.
* Cushing’s Syndrome: In my case was due to a rare adrenal tumor causing high cortisol production. My case was “cyclic” and 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 was found on my right adrenal gland and was listed as an “incidental” on my reports with no mention of it outside of that. 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 (nor some of the others). Having gastric bypass with Dercum’s Disease, hEDS and Cushing’s could have further negatively impacted my life, so I refrained. The high cortisol and damage to my body continued. The tumor grew, as did my cortisol readings so finally an adrenalectomy was approved. 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 all in one (not seen on scans – only after surgery). The recovery time from the years of damage created by high cortisol is also underscored and takes a lot longer to recover from, or in my case, did not help with my other conditions.
* Mast Cell Activation Disorder (MCAS): 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..
OTHER COMORBIDITIES FROM THE ABOVE-MENTIONED:
- Arthralgia (severe Joint Pain), Bursitis, Tendonitis, Muscle Pain/Weakness/Cramps, Hip Pain, Daily random radiating pain and overall body stiffness
- Back Pain: Scoliosis, Spinal Stenosis, Herniated Discs, Bulging Discs, Fissures L4-S1
- 3 confirmed and 5 suspected Hernias
- Overall Chronic Pain: early onset body-wide Osteoarthritis
- Lipoma in Brain: wrapped around posterior/splenium section of Corpus Collasum (listed as rare congenital lipoma by MRI tech, Neurologist called it a “cyst” but I question this due to Dercum’s and MRI/MRA that shows a lipoma so technically needs to be monitored for growth)
- Tortuosity with loops of upper cervical internal carotid arteries (twisted arteries). Was advised by Neurologist that this was just “swollen arteries due to blood pressure issues from Cushing’s”.
- Seeing white flashes of light when base of neck is tapped. Sensitivity to flashing strobes. Sleep paralysis & disturbances. Phantosmia (gasoline smell). Electroencephalogram tests were negative.
- 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)
- History of recurring oral thrush, ear infections, strep throat and swollen lymph nodes
- Positive genetic marker/carrier for Gilbert’s Syndrome
- Positive Antinuclear antibody (devoid of Lupus)
- Severe Fatigue
- Early stages lymphedema and overall Inflammation
- Digestive issues: Diverticulosis, Abdominal Distention, Nausea and Hypoglycemia
- Excessive growth of cherry angiomas (several hundred)
- Pes Pedes and Piezogenic pedal papules with structural changes in feet
- Metabolically resistant to weight loss; or fluctuating 100 pounds up and down (thyroid
tests were negative)
- Right Bundle Branch Block with suspected Postural Orthostatic Tachycardia Syndrome and
- Cyclical Hypogonadism
- Severe Obstructive Sleep Apnea (100% CPAP compliant)
- Painsomnia (a term for Insomnia due to pain causing poor sleep cycles)
- Major Depression and Anxiety (precipitated by conditions)
- Brain fog affecting executive functions (precipitated by conditions)
- A myriad of other issues from side effects of remaining medications
I've been examined by top specialists in various prestigious clinics and practices: Primary Care, Neurology, Pain Clinic Specialist, Endocrinology, Rheumatology, Cardiology, Sleep Specialists, NeuroPsychology, Oncology, Physical Therapy and Top Researchers, etc.. Was prescribed many medications, modalities and have studied/experimented my whole life with alternative healing and nutritional avenues involving various regimens: Anti-inflammatory diet, Nutraceuticals, IRT, RAD, KETO, Meditation, Positive Thinking, Whole body vibration plate, Walking, etc.. Nothing seems to improve my quality of life to consistently do basic functions anymore.
Pictures don’t often do me justice as my painful lipomas/angiolipomas do not show well in photos. I appear fairly “normal” to the outside world – yet my fluctuating body habitus has been judged by some doctors as my fault (aka ‘fat shaming’). Like others in this situation I’ve been dismissed, ridiculed and demeaned by medical professionals for over a decade. For example, I had a Neuropsychologist assess my declining executive function abilities 2 years ago (prior to being formally diagnosed with all of my conditions). The clinical report he wrote showed declines in executive functions but it was also gut-wrenchingly inaccurate and he accused me of “malingering”, “doctor-shopping”, “not trying hard enough”, etc.. While the various diagnoses that proceeded justify my challenges, it doesn’t take away how I and many of us are treated along the way to answers. Such comments are reckless to people in a weakened state trying to advocate for themselves to find answers in attempts to get better. I almost gave up searching for answers after this...
I look for help (a cure – or at a minimum a team of specialists). I’m hoping this show can have a special series to bring awareness towards "invisible illnesses" and how this impacts our lives beyond diagnoses. Specifically, for people with “complex cases” that are essentially dismissed along their journey – and moreover disregarded after diagnosis. I was born with some of this, but what do the rare few of us who suffer from all of these combined conditions have in common? Can we expedite the finding of Genetic Markers for these conditions so we and others don't have to suffer?
In closing, I have recently lost everything due to my health but need to continue fighting for solutions and quality of life. In January of 2019, I lost my profession of 24.5 years with the same company as a Regional Security Manager after I could no longer keep up. Chronic illness is not only debilitating but very cold and isolating. I’m slowly losing my personal relationships with some who have said they’d always be there. I still have to care for my elderly mother yet we may become homeless in the near future until I can get approved for SSDI.
Thanks for reading,