May was Ehlers Danlos Syndrome Awareness Month and when I had shared quite a bit of information on the blog about my health issues. September is Pain Awareness Month and I thought since I have gotten a lot of answers and diagnoses since then, I'd do a post on those now. Here's a breakdown of everything for those of you interested in the details and more explanation of what I have. It's also difficult when someone does ask me what I have or what's wrong, although I'm so thankful they do want to know, it's just quite complicated that I thought it might be easier to have it all written down in one place to share.
I have Ehlers Danlos Syndrome (EDS), a genetic connective tissue disorder that affects all the systems in your body. I was diagnosed with Hypermobile EDS by my rheumatologist and confirmed by my dermatologist, cardiologist, geneticist, and primary care practitioner with the Beighton Score Test, physical exam, genetic testing, and symptoms. As of right now, I have also been diagnosed with comorbidities of EDS that are Postural Orthostatic Tachycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), Arthritis-Adrenaline Disorder (AAD), MTHFR Gene Mutation, Median arcuate ligament syndrome (MALS), Superior Mesenteric Artery Syndrome (SMAS), Nutcracker Syndrome (NCS), May Thurner Syndrome (MTS), Chronic Venous Insufficiency (CVI), Thoracic Outlet Syndrome (TOS), Carpal Tunnel Syndrome, Raynaud’s, Vestibulopathy, TMJ Dysfunction, CranioCervical Instability (CCI), Costochondritis, Ichthyosis Vulgaris, Keloid & Hypertrophic Scars, Non-Alcoholic Fatty Liver Disease, Abdominal Aorta Atherosclerosis, Hypoplastic Ribs at T12, Sacralization of L5, Small Right Inguinal Hernia, Sinus Arrhythmia, & a Heart Murmur.
I was diagnosed with POTS by my cardiologist with a tilt table test.
A condition that affects circulation (blood flow). It involves the autonomic nervous system (which automatically controls and regulates vital bodily functions) and sympathetic nervous system (which activates the fight or flight response). POTS is a form of orthostatic intolerance, the development of symptoms that come on when standing up from a reclining position, and that may be relieved by sitting or lying back down.
Symptoms include:
- High/low blood pressure
- High/low heart rate; racing heart rate
- Chest pain
- Dizziness/lightheadedness especially in standing up, prolonged standing in one position, or long walks
- Fainting or near-fainting
- Exhaustion/fatigue
- Abdominal pain and bloating, nausea
- Temperature deregulation (hot or cold)
- Nervous, jittery feeling
- Forgetfulness and trouble focusing (brain fog)
- Blurred vision
- Headaches and body pain/aches (may feel flu-like); neck pain
- Insomnia and frequent awakenings from sleep, chest pain and racing heart rate during sleep, excessive sweating
- Shakiness/tremors especially with adrenaline surges
- Discoloration of feet and hands
- Exercise intolerance
- Excessive or lack of sweating
- Diarrhea and/or constipation (source)
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I was diagnosed with MCAS by my allergist because of symptoms and relief from treatment (bloodwork did not confirm because it can be difficult to get the bloodwork and 2x24 hour urine samples done while knowing when you are in a flare).
When the mast cells in your body release too much of the substances inside them at the wrong times. Mast cells are part of your immune system. They’re found in your bone marrow and around the blood vessels in your body. When you’re exposed to stress or danger, your mast cells respond by releasing substances called mediators. Mediators cause inflammation, which helps your body heal from an injury or infection. This same response happens during an allergic reaction. Your mast cells release mediators to remove the thing you’re allergic to. For example, if you’re allergic to pollen, your mast cells release a mediator called histamine, which makes you sneeze to get rid of the pollen. If you have MCAS, your mast cells release mediators too frequently and too often.
Symptoms include:
- Skin: itching, flushing, hives, sweating
- Eyes: itching, watering, nose: itching, running, sneezing
- Mouth and throat: itching, swelling in your tongue or lips, swelling in your throat that blocks air from getting to your lungs
- Lungs: trouble breathing, wheezing
- Heart and blood, vessels: low blood pressure, rapid heart rate
- Stomach and intestines: cramping, diarrhea, nausea, abdominal pain
- Nervous system: headache, dizziness, confusion, extreme tiredness (source)
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I was diagnosed as homozygous for the C677T variant in the MTHFR Gene by my maternal-fetal medicine specialist and primary care practitioner with genetic testing.
Methylenetetrahydrofolate reductase, or MTHFR, is an enzyme that breaks down the amino acid homocysteine. The MTHFR gene that codes for this enzyme has the potential to mutate, which can either interfere with the enzyme’s ability to function normally or completely inactivate it. Homocysteine is an amino acid that the body produces by breaking down dietary proteins. High levels of homocysteine can damage blood vessels and lead to blood clots. People who have high homocysteine levels tend to have low levels of vitamin B-12. Women who test positive for an MTHFR mutation may have an increased risk of preeclampsia, blood clots, recurrent miscarriages, or giving birth to a baby with congenital disabilities.
Symptoms of homocystinemia due to MTHFR mutations include:
- Abnormal blood clotting
- Developmental delays
- Seizures
- Microcephaly
- Blood clots
- Poor coordination
- Numbness or tingling in the hands and feet (source)
I was diagnosed with AAD by my geneticist with an evaluation and my symptoms.
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I was diagnosed with MALS by my cardiologist with a color doppler ultrasound.
A condition in which the median arcuate ligament presses too tightly on the celiac artery (a major branch of the aorta that delivers blood to the stomach, liver, and other organs) and the nerves in the area (celiac plexus).
Symptoms include: The first sign of MALS is pain in the upper abdomen after eating. The pain causes patients to avoid eating, which can lead to weight loss. Other associated symptoms may include:
- Nausea
- Diarrhea
- Vomiting
- Delayed gastric emptying (a delay in food moving from the stomach into the small intestine (source)
I was diagnosed with SMAS by my cardiologist with a color doppler ultrasound.
A digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum.[1] Symptoms vary based on severity, but can be severely debilitating. SMAS typically is due to loss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery).
Symptoms include:
- Abdominal pain
- Feeling full quickly when eating
- Bloating after meals
- Burping (belching)
- Nausea and vomiting of partially digested food or bile-like liquid
- Small bowel obstruction
- Weight loss
- Mid-abdominal "crampy" pain that may be relieved by the prone or knee-chest position or by lying on the left side (source)
I was diagnosed with NCS by my cardiologist with a color doppler ultrasound and CT Angiogram.
A condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed.
Symptoms include:
- Blood in the urine (hematuria) which can occasionally cause anemia requiring blood transfusions
- Abdominal or flank pain that may radiate to the thigh and buttock. Pain may be worsened by sitting, standing, walking, or riding in a vehicle that shakes.
- Chronic fatigue syndrome and fatigue symptoms
- Pelvic congestion syndrome, causing symptoms such as chronic pelvic pain, pain during intercourse, painful or difficult urination, painful menstrual cramps during periods, and polycystic ovaries
- Orthostatic proteinuria (elevated protein excretion while in the upright position)
- Orthostatic intolerance (feeling light-headed or having palpitations when standing upright) (source)
I was diagnosed with MTS by my interventional radiologist and confirmed by my vascular surgeon with a venogram and a CT Angiogram.
Caused when the left iliac vein is compressed by the right iliac artery, which increases the risk of deep vein thrombosis (DVT) in the left extremity. DVT is a blood clot that may partially or completely block blood flow through the vein. (source)
With a DVT, symptoms include:
- Changes in skin color, with it looking more red or purple than normal
- Heaviness, tenderness, or throbbing
- Pain that feels like a cramp or charley horse
- Skin that’s warm to the touch
- Swelling
- Veins that look larger than usual (source)
I was diagnosed with CVI by my cardiologist and confirmed by my interventional radiologist with ultrasounds. Reflux of right common femoral, great saphenous, lesser saphenous, popliteal, & peroneal veins. Reflux of left common femoral, great saphenous, posterior tibial, & peroneal veins.
Valves in your veins (usually in the leg or sometimes the arms) don't work, causing blood to pool in your legs and putting increased pressure on the walls of the veins. May be due to valve dysfunction (usually hereditary) or due to valve destruction after a deep vein thrombosis (DVT) or blood clot.
Symptoms include:
- Heaviness in the affected limb
- Swelling
- Pain (source)
I was diagnosed with TOS by my cardiologist with a color doppler ultrasound and ROOS Test.
Thoracic outlet syndrome refers to a group of conditions characterized by the compression of the nerves, arteries, and veins that pass through the space between the collarbone and the first rib. This space is known as the thoracic outlet. Anything that narrows the space inside the thoracic outlet can put pressure on the blood vessels and nerves. This can cause pain in the neck, shoulders, and arms.
Symptoms associated with venous thoracic outlet syndrome include:
- Pallor or paleness in one arm
- A weak pulse in the arm
- Pain, tingling, or swelling in the arm and hand
- Weakness or a loss of sensation in the arm and hand (source)
I was diagnosed with Carpal Tunnel Syndrome by my neurologist with EMG Testing.
Carpal tunnel syndrome is a painful, progressive condition that occurs when the median nerve in the wrist is compressed. Also known as median nerve entrapment or median nerve compression, it may happen when a nerve swells, the tendons become inflamed, or something causes swelling in the carpal tunnel.
Symptoms include:
- Pain
- Numbness
- Tingling
- These symptoms occur in the thumb and the two fingers next to it, as well as half of the ring finger. They may extend to the rest of the hand and into the forearm.
- As the condition progresses, symptoms may persist during the day. The person may lose grip strength and find it harder to form a fist or grasp small objects. Opening a bottle of soda, doing up buttons, or typing on a keyboard can become a challenge.
- If left untreated, the muscles at the base of the thumb may wither away, and the person may no longer be able to tell hot from cold with the thumb and finger. (source)
I was self diagnosed with Raynaud’s by my symptoms.
- A person with Raynaud’s disease experiences pain in the extremities, for example, the fingers, when temperatures drop.
- Blood vessels narrow and almost completely shut down. Fingers or toes turn from white to blue and, then, as the blood returns, they flush red. (source)
I was diagnosed with Vestibulopathy by my cardiologist with VNG Testing.
- A disorder characterized by dizziness, imbalance, nausea, and vision problems.
- Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. (source)
I was diagnosed with Costochondral Separation by a physical trainer with a physical exam.
Each of your ribs is connected to your breastbone by a piece of cartilage. The point where your rib connects to this cartilage is known as your costochondral joint. Costochondral separation is an injury that occurs when one or more of your ribs separates from this cartilage. This type of injury is also called a separated rib.
Symptoms include:
- Sharp pain between your rib and breastbone
- Sharp pain when breathing, sneezing, or coughing
- Pain that comes and goes
- A popping feeling when the injury happens (source)
I was diagnosed with Costochondritis by a physical trainer with a physical exam.
The ribs are connected to the breastbone by tough, protective tissue called cartilage. When this cartilage becomes inflamed, the condition is known as costochondritis or chest wall pain. While this condition is usually temporary, it can be alarming, as the pain can become so significant it mimics a heart attack.
Symptoms include:
- Chest discomfort and pain may be stabbing, burning, or aching in nature. The ribs most affected are the second to fifth ones.
- The following activities usually worsened the pain associated with costochondritis:
- Significant amount of coughing
- Strenuous exercise
- Physical activity using the upper arms, such as lifting boxes (source)
I was diagnosed with TMJ Dysfunction by my primary care practitioner with a physical exam and symptoms.
The temporomandibular joint is located at the base of the skull. Commonly referred to as the TMJ, it allows for the movement required for chewing and talking. The joint connects the mandible, which is the lower jaw, and the temporal bone, which is on the side of the skull. Since the TMJ allows for movement both up and down as well as from side to side, it is one of the most complex joints in the body.
There is a range of symptoms linked to TMJ, including:
- Pain
- One of the most obvious symptoms of a TMJ disorder is pain that is felt when moving the jaw. However, other symptoms that may occur with a TMJ disorder include headaches or migraines, neck ache or backache, and earaches or pain around the ear that spreads to the cheeks.
- If the pain is not located near to the jaw, a doctor will often look for other symptoms before diagnosing a TMJ disorder.
- Sounds
- A common but often painless symptom is an unusual popping, clicking, or even grinding noise that can occur while eating, talking, or simply opening the mouth.
- Noises that occur when moving the jaw are not always a symptom of TMJ disorders. In fact, jaw noises are quite common. It is only when the sounds occur alongside pain or limited movement of the jaw that medical advice may be needed.
- Buzzing, ringing, or numbness in the ears can occur alongside earaches, and these symptoms can also be associated with TMJ disorders.
- Restricted movement
- Limited movement that prevents the mouth from being opened fully or the jaw from being moved in certain directions can cause severe discomfort in everyday life. (source)
I was diagnosed with CCI by my geneticist with an evaluation and symptoms.
Craniocervical Instability, also known as the Syndrome of Occipitoatlantialaxial Hypermobility, is a structural instability of the craniocervical junction which may lead to a pathological deformation of the brainstem, upper spinal cord, and cerebellum. It primarily occurs in patients with Ehlers-Danlos Syndrome and other hereditary disorders of connective tissue. About 1 in 15 people with EDS will go on to develop CCI due to a lack of connective tissue support at the craniocervical junction. While some EDS patients present with this condition after a head and neck injury (such as whiplash), for the most part this condition tends to manifest gradually through repetitive stretch injuries from actions as simple as turning one’s head.
Symptoms include:
- A heavy headache: a constant to near constant headache that can be described as feeling like the head is too heavy for the neck to support (feeling like a “bobble-head”)
- A pressure headache: an impairment of CSF flow causes intracranial pressure which would be aggravated by “valsalva maneuvers” such as yawning, laughing, crying, coughing, sneezing or straining.
- Dysautonomia: brainstem compression can lead to a dysfunctional autonomic nervous system (the involuntary regulator of all body functions). Symptoms of this include, but are not limited to:
- Tachycardia (rapid heart)
- Heat intolerance
- Orthostatic intolerance (low blood pressure when standing)
- Syncope (fainting)
- Polydipsia (extreme thirst)
- Delayed gastric emptying
- Chronic fatigue
- Neck pain
- Central or mixed sleep apnea
- Facial pain or numbness
- Balance problems
- Muscle weakness
- Dizziness and vertigo
- Vision problems
- Reduced gag reflux and difficulty swallowing
- Ringing in the ears and hearing loss
- Nausea and vomiting
- Impaired coordination
- Downward nystagmus (irregular eye movements)
- Paralysis and more (source)
I was diagnosed with Ichthyosis vulgaris by my dermatologist with a physical exam.
Ichthyosis vulgaris is a type of ichthyosis, a group of related skin conditions that interfere with the skin’s ability to shed dead skin cells, causing extremely dry, thick skin.
Symptoms include:
- Ichthyosis vulgaris may present as skin dryness with accompanying fine, white, or skin-colored scales. Often, the skin will also flake.
- The scaling associated with ichthyosis vulgaris can also cause the skin to crack in areas that are severely or persistently affected. Cracking most often occurs on the soles and palms.
- Scaling can also lead to general discomfort and pain and make the skin more vulnerable to irritation and further drying. While rare, in some people with ichthyosis vulgaris, scaling interferes with the sweat glands causing either excessive sweating (hyperhidrosis) or an inability to sweat. (source)
I was diagnosed with Keloid & Hypertrophic Scars by my dermatologist with a physical exam.
Hypertrophic scars occur when there is a lot of tension around a healing wound. These scars are thick and raised, and often red in color. They may remain like this for several years. Hypertrophic scars are the result of an imbalance in collagen at the site of the wound. Keloids are reddish nodules that develop, as gristle-like connective tissue forms to heal a wound. A keloid continues to form even after the wound has healed, resulting in a large mound of scar tissue.
Symptoms include:
- Both keloids and hypertrophic scars can be painful and itchy. They generally occur on the upper body, upper arms, shoulders, neck, or earlobes.
- Restricting movement, as the skin is no longer as flexible
- Forming within the boundaries of the original wound
- Creating healing tissue that is thicker than usual
- Being red and raised to start with but becoming flatter and paler over time (source)
I was diagnosed with Non-Alcoholic Fatty Liver Disease by my primary care practitioner with an MRI.
The liver typically contains some fat. However, if it builds up, it can cause fatty liver disease. This means that the liver is not able to function normally. Fatty liver disease can occur when there is more than 5% fat in the liver.
Symptoms include:
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I was diagnosed with Abdominal Aorta Atherosclerosis by a CT Angiogram.
Atherosclerosis is a narrowing of the arteries caused by a buildup of plaque. It can result in a shortage of blood and oxygen in various tissues of your body. Pieces of plaque can also break off, causing a blood clot. If left untreated, atherosclerosis can lead to heart attack, stroke, or heart failure. (source)
Most symptoms of atherosclerosis don’t show up until a blockage occurs. Common symptoms include:
- Chest pain or angina
- Pain in your leg, arm, and anywhere else that has a blocked artery
- Shortness of breath
- Fatigue
- Confusion, which occurs if the blockage affects circulation to your brain
- Muscle weakness in your legs from lack of circulation
- Weight loss
- Mid-abdominal "crampy" pain that may be relieved by the prone or knee-chest position or by lying on the left side (source)
I was diagnosed with Hypoplastic Ribs by a CT Angiogram.
Labeled at T12. Means there are four lumbar vertebrae and the lumbosacral junction is at L4-L5.
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I was diagnosed with Sacralization of L5 by my physical therapist with a physical exam and confirmed by a pain specialist with an X Ray and CT Angiogram.
Sacralization is a common irregularity of the spine, where the fifth vertebra is fused to the sacrum bone at the bottom of the spine. The fifth lumbar vertebra, known as L5, may fuse fully or partially on either side of the sacrum, or on both sides. Sacralization is a congenital anomaly that occurs in the embryo.
Other symptoms associated with sacralization may include:
- Arthritis at the fusion site
- Bursitis
- Disc degeneration
- Biomechanical difficulties in movement
- Limits to range of motion
- Posture control problems
- Scoliosis
- Leg pain, buttock pain (source)
I was diagnosed with a Small Right Inguinal Hernia by a CT Angiogram.
An inguinal hernia occurs when part of the intestine or fatty tissue pokes through a weakened area of the abdominal wall to either side of the inguinal canal. The inguinal canal is a passage that occurs on each side of the lower abdomen and connects to the genitals.
Symptoms of an inguinal hernia may not appear at first. One of the first symptoms may be the feeling of heaviness or pressure on the groin. Other symptoms may occur as the hernia grows larger. Some of the symptoms of an inguinal hernia may include:
- Small bulge to one or both sides of the groin that may disappear on lying down
- The scrotum may appear enlarged in males
- Pressure or heaviness in the groin
- Weakness in the groin
- Pain, burning, or gurgling at the bulge site
- Sharp pain or discomfort that increases when lifting, coughing, bending, or exercising
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I was diagnosed with a Sinus Arrhythmia by my cardiologist with a heart monitor.
Sinus arrhythmia does not relate to the sinus cavities in the face but to the sinoatrial or sinus node in the heart. The sinoatrial or sinus node is located in the upper chamber on the right side of the heart, which is called the right atrium. The sinus node is known as the heart’s natural “pacemaker,” meaning it is responsible for the rhythm of a person’s heartbeats. Normal sinus rhythm is a regular rhythm found in healthy people.Sinus arrhythmia means there is an irregularity in the heart rhythm, originating at the sinus node. (source)
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I was diagnosed with Heart Murmur by a general practitioner and confirmed by my cardiologist with a physical exam.
Heart murmurs result from vibrations, or turbulence, that blood causes when it flows through the heart. It produces sounds that doctors can hear through a stethoscope.When heart valves open and close, they make a “valve sound.” However, valves that do not open or close normally can cause blood to leak backward or prevent blood from flowing forward, which can create a sound called a murmur. Blood that moves very quickly through the heart can also create a type of murmur called a “flow murmur.”
Symptoms include:
- Shortness of breath
- Dizziness
- Fainting
- Bluish skin
- Chronic cough
- Palpitations
- Swelling in the legs or abdomen (source)
Currently waiting for diagnosis of Interstitial Cystitis (IC)
A chronic bladder problem. Your bladder holds pee after your kidneys have filtered it but before you pee it out. Symptoms can come and go. Or they may be constant. Interstitial cystitis causes urgent, often painful bathroom trips. You may have to pee as many as 40-60 times a day in severe cases. It can even keep you up at night. The bladder pain people feel with IC can range from a dull ache to piercing pain. Peeing may feel like just a little sting, or it can feel like serious burning.
Symptoms include:
- Bladder pressure and pain that gets worse as your bladder fills up.
- Pain in your lower tummy, lower back, pelvis, or urethra (the tube that carries pee from your bladder out of your body)
- For women, pain in the vulva, vagina, or the area behind the vagina
- The need to pee often (more than the normal 7-8 times daily)
- The feeling you need to pee right now, even right after you go
- For women, pain during sex (source)
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