Assorted symptoms indicating a genetic connective tissue disorder

Posted by sallysunshine @sallysunshine, Apr 8, 2021

Hello folks, I've compiled a list of my symptoms, in the hopes that doctors will use it to diagnose and treat me. Yesterday, I learned that Clinical Genetics, had refused my Primary Care Provider's referral to him for diagnosis. I then sent him the following information in the hopes that he would reconsider. I've heard that Mayo Rochester is refusing to accept/diagnose/treat patients with EDS or suspected EDS, but nobody seems to know why (including me).

Assorted symptoms of connective tissue disorders (Ehlers-Danlos Syndrome, Marfan Syndrome, Chiari Malformation, Dysautonomia, and Related)

Migraine headaches
Neck and shoulder pain and stiffness
Chronic insomnia
Upper body weakness
Poor fine motor skills
Blurred vision
Difficulty thinking and concentrating
Weak hands – deformed thumb joints
Shortness of breath
Sensitivity to light, seeing floaters
Frequent and urgent urination
Wake up choking
Pulsatile tinnitus (head pounds to beat of heart)

Marfan Characteristics

Arm span greater than height
Double jointed
Sydney line
Deep hip sockets

Autonomic and Cardiopulmonary Issues:

Reduced heart rate variability
Exercise intolerance
Sweat too much
Fatigue when standing
Shortness of breath
Cold hands and feet
Labile blood pressure
Shortness of breath
Pulmonary nodules

Neurocognitive Issues

Difficulty findings words
Short term memory loss
Working memory loss
Sensory: hypersensitive to light, sound, motion, touch
Aphasia – very slow to respond to questions due to need for processing time

Childhood Characteristics

Floppy ankles – could not be upright on skates as child
Developmentally slow as a child – socially, intellectually, and physically
Was shunned, excluded, and bullied as a child
Physically weak – I've never done a push up or pull up
Picked last for team sports – poor coordination
Came in last for all runs
Poor fine motor skills – sloppy writing
Inattentive – diagnosed with ADD as an adult
Fell asleep in classes – sleep disorder from early age
Double jointed legs with odd way of sitting
Lost track of time and took a long time to walk home after classes ended

Miscellaneous Connective Tissue Disorder Symptoms

Coat hanger pain in neck and shoulders
Migraine Headaches – flashing lights in peripheral vision, rarely pain
Hypermobility joints
Abnormal thumb joints
Reynauds Syndrome diagnosed about 2005
Muscle weakness
Swolllen hands
Hair loss – eyebrows, arms, legs
Sacroiliac instability
Cervical spine instability
Peetechiae (broken blood vessels under the skin)
Thin, translucent skin
Thin, wrinkled, stretchy skin on hands
Uterine prolapse
IBS Symptoms that seem unrelated to diet – intermittent
Jaw dislocated numerous times in life, had to be reset by chiropractors
Severe stretch marks during pregnancy
Knee pain
Subluxations of spine
Chiari malformation with fluid buildup diagnosed in 2010 at Noran
Sprained ankle took a year to heal
Neck stiffness
Memory problems
Blurred vision
Excessive sweating

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This is a comprehensive list, Sally. I know it was a lot of work to compile it, I'm confident it will serve you well as you work with your care team to confirm a diagnosis and move forward.

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