- 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
Please click “read more” below to expand for more information. Currently, formally diagnosed with the following conditions and comorbidities:
* DERCUM'S DISEASE: One of the rarest and most painful conditions in the world. The condition is over one hundred years old – yet the cause is still unknown, WITH NO CURE. It is suspected to be a progressive adipose tissue/lymphatic/connective tissue or immune disorder. I have 100’s of debilitatingly painful fatty tumors (Lipomas or 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, aching. Some patients suffer from over 1,000 painful tumors. They can become disturbingly visible and most are unidentifiable without a specialized setting via MRI or specialized ultrasound. My growths tend to be of various sizes (rice to fist sized) diffuse and 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 average physical/emotional stressors expedite the growth of these painful tumors; or cause more painful flare-ups. This is an insidious disease doctors have never heard of and say, “lipomas aren't painful” and simply tell you to lose weight or suggest surgically removing them, or liposuction. 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 100’s of painful growths is not an option - nor was it recommended by my Geneticist, Endocrinologist or Oncology Surgeon; so basically have to live with the pain. Consequently, on top of the pain, this condition also affects my other systemic bodily functions and causes extreme fatigue, mobility issues and restrictions to weight loss.
* 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/unpredictable. Medical professionals are not very 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. While my cortisol stabalized oncce my left afrenal “woke up” now it’s on the low side again!
* 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:
-- Lipoma in Brain: wrapped around posterior/splenium section of the Corpus Collasum
-- 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”
-- Arthralgia (severe Joint Pain)
-- Back Pain: Scoliosis, Spinal Stenosis, Herniated Discs, Bulging Discs, Fissures L4-S1
-- Overall Chronic Pain: early onset body-wide Osteoarthritis, Bursitis, Tendonitis, Muscle Pain/Weakness/Cramps, Hip Pain, Daily random radiating pain and overall body stiffness
-- 5+ Abdominal Hernias
-- Diastasis Recti
-- Low cortisol reading now. So in essence in an “Addison’s Disease” state.
-- 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)
-- History since child 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)
-- IgA, IgG and igM immunogobulins tested and in normal state
-- Severe Fatigue
-- Early stages lymphedema
-- Inflamatory markers elevated. To include very high Lipoprotein (a) and Homocysteine levels.
-- 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 Nervous System Sleep Apnea, Obstructive Sleep Apnea, Insomnia, Sleep paralysis, Painsomnia, Exploding Head Syndrome, Deviated septum. 100% CPAP compliant
-- 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 Dysautonomia
-- Cyclical Hypogonadism
-- 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: Geneticist, Primary Care, Neurology, Pain Clinic Specialist, Endocrinology, Rheumatology, Cardiology, Sleep Specialists, NeuroPsychology, Oncology, Physical Therapy and Top Researchers, etc.. Was prescribed many medications and modalities. Those close to me know that I have studied/experimented my whole life with alternative healing and nutritional avenues involving various regimens: Anti-inflammatory diet, Nutraceuticals, IRT, RAD, KETO, FODMAP, CBD/MMJ, Meditation, Positive Thinking, Whole body vibration plate, Excercise, Aqua-Therapy, etc.. Nothing seems to improve my quality of life to consistently do basic functions anymore...
As with many “invisible illnesses” I appear ‘normal’ to the outside world. Pictures don’t do me justice since my conditions do not show well in photos. My fluctuating body habitus has been judged by many as my fault. Like others in this situation, I’ve been prejudged and humiliated by medical professionals for over a decade and told to lose weight, exercise or seek mental therapy because it's “all in my head”. 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. This is reckless towards people suffering trying to advocate for themselves in hopes of finding answers and attempts to get better.
Looking 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 people’s lives beyond diagnoses. Specifically, for people with multiple “complex conditions” that are essentially dismissed along their journey – and moreover disregarded after diagnosis because not much can be done. WHAT DO THE 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 ANYMORE?
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. Nowhere close to retirement. Slowly losing my personal relationships with some who I thought would always be there. Chronic illness is not only debilitating but very cold and isolating. Current public assistance is at its limit with housing in my state and may become temporarily homeless until I can get approved for SSDI.
Thank you in advance for reading and providing inputs,