- 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 (2019), Ehlers-Danlos Syndrome (2017), Cushing's Syndrome (2015), Mast Cell Activation Syndrome (MCAS) along with other Comorbidities (2019). All considered rare conditions - and in some cases even rarer in men. I am known in the medical community as a “Complex Medical Case”. This means that receiving proper care is challenging. Details as follows:
* Dercum's Disease: Considered one of the rarest and most painful conditions in the world. The cause is still unknown, with no cure. It is believed to be an adipose tissue/lymphatic/connective tissue or immunologic disorder. I have hundreds of debilitatingly painful fatty tumors (Lipomas and Angiolipomas) growing underneath the skin and on certain organs; pressing against nerves throughout many parts of my body. Feels like constant burning, stabbing, throbbing. Some patients suffer from over 1,000 painful lipomas/angiolipomas. Some are disturbingly visible and most are unidentifiable without an intricate setting via MRI. My growths tend to be of various sizes (rice sized up to tennis ball sized) diffused and positioned deeper in comparison to some. Consequently, this condition also affects other systemic bodily functions. Exertion and many types of physical/emotional stressors expedite the growth of these fatty tumors; or cause more painful flare-ups. This is an insidious disease and most doctors have never heard of it and say that lipomas aren't painful and simply tell you to lose weight or try to surgically remove them. Limited studies and currently identified Dercum’s patients reveal that surgically removing them oftentimes causes several more to grow in its 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 top Oncology surgeon and basically have to live with the pain.
* Ehlers-Danlos Syndrome (hEDS): Categorized as a rare connective tissue disorder (genetically defective collagen production) causing systemic and musculoskeletal issues along other comorbidities (like POTS and MCAS). 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. 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. It feels like a rubber band that has been overstretched and remains in that position. 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, metabolizing topical analgesics and local anesthetics very poorly. Many doctors are not knowledgeable of 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. In my case, it was “cyclic” and did not show the “classic” physical signs of Cushing’s so was even harder to diagnose. This illness was hard to diagnose and I was often-times dismissed due to my other conditions or lack of knowledge. 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 the weight caused by Cushing’s in lieu of adrenalectomy. One simply cannot lose weight with this condition. 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): Mast cells, a type of blood cell, play an important role in the body’s immune system. This disorder causes an overreactive response in the body. Each person may have a different reaction within their body. This causes me tachycardia, swelling, allergic reactions, fatigue, bloating, chemical product sensitivity, etc..
- Lipoma in Brain: wrapped around posterior/splenium section of Corpus Collasum (assumed rare congenital defect by MRI tech – but I question this due to Dercum’s)
- Tortuosity with loops of upper cervical internal carotid arteries (twisted arteries)
- Overall Chronic Pain: early onset body-wide Osteoarthritis, Arthralgia:
Joint Pain, Bursitis, Tendonitis, Muscle Pain/Weakness/Cramps, Hip Pain, Daily random radiating pain and overall body stiffness
- Significant Back Pain: Scoliosis, Spinal Stenosis, Herniated Discs, Bulging Discs L4-S1
- 3 confirmed and 5 suspected Hernias
- Chronic Cystitis and Pyelonephritis and resistant to a growing list of antibiotics (cause unknown after scans)
- Previous recurring oral thrush, ear infections and strep throat.
- Resistant or allergic to mostly ALL major pain medications including all opioids, morphine,
fentanyl, lidocaine and even caffeine (confirmed by pharmacogenetic testing)
- Positive genetic marker/carrier for Gilbert’s Syndrome
- Positive Antinuclear antibody (devoid of Lupus)
- Extreme life-altering Fatigue
- Early stages lymphedema and overall Inflammation
- Digestive issues: Diverticulosis, Painful Abdominal Distention, Nausea and Hypoglycemia
- Excessive growth of cherry angiomas (several hundred)
- Pes Pedes and Piezogenic pedal papules with structural changes
- 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 and 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 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, Infectious Disease Specialists, Physical Therapy and Top Researchers, etc.. Was prescribed many medications, modalities and have studied/experimented my whole life with alternative healing and nutritional avenues regarding various regimens: Anti-inflammatory diet, Nutraceuticals, IRT, RAD, KETO, Meditation, CBD Oil, Whole body vibration plate, 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 fatty tumors 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 3 years ago (prior to being diagnosed with my conditions). The report he wrote was gut-wrenchingly inaccurate and accused me of “malingering”, “doctor-shopping”, being a “lonely person” and “not trying hard enough”. Meanwhile the report actually showed significant technical result declines. While the various diagnoses that proceeded justify my challenges, it doesn’t take away how I and many of us are treated on the way to answers. Such comments are reckless and dangerous to people in a weakened state trying to advocate for themselves to find answers in attempts to get better.
I look for help (a cure – or at a minimum a team of specialists). At a minimum, I’m hoping this show can have a special series to bring awareness towards "invisible illnesses" and how this impacts our lives. Specifically, for people with “complex cases” that are essentially dismissed during their journey – and moreover forgotten about after diagnosis. I was born with some of this, but what do the relatively 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 answers. 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. Support groups are helpful. I can no longer really care for my elderly mother and we may become temporarily homeless in the near future until I can get approved for SSDI.
Thanks for reading,