My Ehlers-Danlos Syndrome Medical History

Ehlers-Danlos Syndrome is an inheritable, genetic disease affecting the quality of collagen in the body.

Collagen is one of the most abundant proteins within the body,  making up the tissue structures of ALL body systems.

The faulty collagen produced  in the body of the Medical Zebra ranges in effects from benign hypermobility to severe musculoskeletal debilitation.

The effects don’t stop  with the musculoskeletal system  as some  EDSers experience GI issues from irritable bowel syndrome to malabsorption.

My diagnosis with EDS didn’t happen until I was 35 years old. Despite a long medical history with bizarre, acute health crisis my doctors never mentioned genetic testing. Only after diagnosing and advocating for myself did I get them to listen. After 15 years battling an invisible, “idiopathic” disease process, I finally have a name to put to my issues. Now, I can advocate for myself with the luxury of having an Official Diagnosis.

Below is the table I prepared for my genetics appointment listing the sordid details of my case. I am sharing this table as a part of my article Ehlers-Danlos Syndrome: My Experience with the Geneticist.  The document was too extensive to include in the post so I am leaving it here as a resource for those questioning an Ehlers-Danlos Syndrome diagnosis.

Please remember, each Medical Zebra Tale is uniquely individualized based on a number of factors. There are people with EDS without these complex issues just as there are EDSers with even more complex histories than mine.

Please enjoy and feel free to share My Ehlers-Danlos Syndrome Medical History!

Birth

Mother reports forceps were used and I had black eyes; reports she was highly medicated for the labor and doesn’t remember much

1986­ 1992

Severe ankle sprains due to joints rolling out when walking down the steps; Behavioral & Depressive problems; Several severe infections, majority treated at home; Began to have RLS at night and severe cramping in my legs; Menses at age 9; severe PMS (all my life as well); Terrified of the dark; Difficulty reading aloud and was seen by the eye doctor who said I had a lazy brain to mouth connection; difficulty with peers; very good at gymnastics d/t flexibility; difficulty with dance

1995

Kidney Infection; Episodes of graying of vision and dizziness; Found out it wasn’t normal to not have a BM but once a week; Pregnancy with first daughter

1997

Gave birth to first daughter; pernicious anemia during pregnancy; uncomplicated and surprising quick delivery (<6hr) within a week of due date. during prenatal care with midwife it was noted my cervix was tilted and something was abnormal about the hinge of my tailbone; PPD, severe fatigue and back pain after pregnancy

1998

Gave birth to second a daughter; labor was difficult; 1 month overdue with severe braxton hicks contractions daily; Possible miscarriage of twin during first month of pregnancy; Labor took over 24 hours and was very physically distressful not because of pain from labor but severe and uncontrollable restless legs syndrome; Pernicious anemia during pregnancy; PPD

1999

Divorce.Severe episode of spontaneous vaginal bleeding. ER treated with fluids and check for immediate danger but said I would have to follow up with a doctor. I did not follow with a doctor yet at this time, nor did I have a doctor from years. Severe lower abdominal pain went to ER told it might be endometriosis; Severe ribs pains went to ER told I had arthritis throughout all my ribs; Blacked out for 12 hours during a drive back from TN went to ER and no neurological or other medical cause could be found. Severe stress at the time; 1 spontaneous abortion

2000

Self admission to psychiatric care for 3 day stabilization for suicidal ideation; Diagnosis Major Depression and substance abuse disorder (I was drinking a lot at the time); Stopped drinking. Quit job, moved back home and started college

2002­2003

Primary care initiated when I got pregnant with my son. Pregnancy was uncomplicated besides increased fatigue, depression, severe back pain at times, tearing of the muscles in my upper thighs and even more deep stretch marks; Delivery was uncomplicated and only 4 hours long. I progressed much faster than my doctor thought I would based on my effacement when arriving; My son was healthy at birth although as a baby he would sweat really badly when I was nursing him and he also broke out in a lot of rashes and had a lot of constipation; PPD; Began to have distress from constipation and heart palpitations, got shin splints from normal activity; more fatigue; more joint pain

2004

Cont issues and finally saw doctor; Cariology did a stress test (negative) and a holter (highest 145, lowest 44, occasional PACs and PVCs) Put on Zoloft and Inderal, treated for GERD; Had a bad reaction to Zoloft; Went to new PCP

2005­2007

Cont issues worsening in severity; Weight loss, nausea and vomiting as well as severe stomach pains with meals, at random and with bowel movement; IgE testing revealed a very high level of IgE mediated immunity and calcoprotein; very high levels of serotonin in urine; diagnosed with diabetes insipidus and HTN & leaky gut syndrome; Slight Scoliosis; Received physical therapy & chiropractic work for back pain and spurring & reversal of the cervical spine shown on x­ray; MRI was normal for pituitary tumor; Barium studies showed GERD and slightly delayed motility. Delayed hypersensitivity reactions to foods showed multiple food allergies; severe depression and PTSD reaction diagnosed in therapy after my second divorce in 2008. Multiple ER trips for gastrointestinal distress and false heart attacks. Abnormal pap smear

4/2007

3 week inpatient hospitalization at for ERCP-induced pancreatitis with pseudocyst formation; ct scans showed my left lower lung was collapsed at this time and a cyst in my lungs (I just remembered about this when gathering records and I was supposed to get follow up but never did)

5/2007

3 week inpatient hospitalization for PICC line seeded infection of multifocal pneumonia and for continued elevated liver and pancreatic enzyme. RNY and cholecystectomy completed at this time.

7/2007

1 week admission for paralytic ileus and fecal impaction following 6 months of at least one ER visit a month for GI pain and distress

2008

3 week inpatient hospitalization for metabolic disturbance ; Transferred to speciality unit for suspected sphincter of oddi disorder. Received diagnosis of SOD Type I and underwent ERCP with pancreatic stent placement; Immune testing revealed previous infections of EBV, CMV, & 1 speckled ANA

2009­ 2012

Multiple ER trips for flares of GI disturbance and neck and other muscles strains * WORK INJURY (2011): severe back and neck strain during normal nursing duties with patient care; sought medical evaluation and was told I needed to find a new career because I had something very wrong with my neck. PCP was notified and I was sent for an x ray which revealed reversal of the cervical spine. No other follow up was received, but continued to have significantly issues with back/neck pain from this point on instead of occasional.

9/2012

3 week hospitalization for severe abdominal pain and findings of pneumobilia, transferred to specialty hospital for specialized follow up due to complicated history; testing revealed dysfunction in the liver enzyme of unknown function which eventually returned to normal upon release and clear liquid diet; underwent psychiatric evaluation to r/o factitious disorder; factitious disorder ruled out, but significant for depression and anxiety.  Discharge with orders for follow up with outpatient testing gastric motility, but at the time I discontinued care with specialists and went to a local GI.

2013

Cont GI exacerbations and frequent neck and back strains with normal activity; Colonoscopy/Endoscopy showed gastritis and mild eosinophilic congestion; Cut gluten out of my diet and switched to organic foods. No more major GI distress for 1 year. Overall improvement in symptoms, quit taking all medications for GI; Only 2 ER trips one for a feared heart attack and the other for a neck strain that caused my vision & hearing to get weird

4/2014

Began to have twitching under eye and the right side of my fae began to look like it was dropping; started to have increased hip pain with effects on my mobility when flared up; developing bumps on knees and elbows and angiomas and petechia all over my body; Woke one day with slight chest pain and could feel my heart racing, went to work all day but when i got home it was worse. Went to ER treated with fluids and o2 for acute kidney failure d/t dehydration however I drank plenty of water and electrolyte containing fluids that day, but was having a flare with excessive urination as I sometime do; Referred to cardiology d/t chest pain, sudden HTN after no HTN for 4 years and EKG abnormalities. Stress test was negative. Discovered a murmur and slight mitral valve regurgitation. Want rheumatology to follow up with me but PCP did not make referral because my ANA was negative; Discharged, but started to decline a lot from this point overall with my GI symptoms coming back and more neurological symptoms appearing (arthralgia, dysphagia, tremors, vision changes, sensitivity to light and noise, brain fog ect) Requested PCP to write leave for work but was refused so cont to work but boss would let me work from home often.

2015 ­2016

Constipation issues becoming distressful again requiring enemas. Joint, neck, back and hip pain became increasingly worse when I changed jobs to a more physical nursing position. Neurological symptoms and heart racing increased with the position change as well. Injured 4/2015 at work when a 300 pound patient fell on top of my injuring my hip, back and neck. Did not recover. X Ray showed reversal of the cervical spine, straighten of the normal thoracic curvature and an discrepancy between my right and left leg lengths. Comp denied claim beyond the diagnosis of neck and back sprain indicating their physician felt I had some sort of connective tissue disease based on his assessment of my medical history and the report from comp physical therapist regarding my flexibility and descriptions of pains; Severe mobility impairment, starting using a cane and limping badly; Started with a new PCP, but quickly discontinued because he thought I was just depressed even after an ER trip in which the physician recommended I got to Morgantown next time because “they need to biopsy your skin and muscles.” I had uric acid, ketones, protein in my urine as well as elevated eosinophils. Treated for pleurisy/chest pain with 1 night observation; went back to cardiology echo negative except for trace mitral regurgitation; holter showed tachycardia and bradycardia. Started on digoxin and endotolac. Colonoscopy/Endo negative for issues; CT scan showing small cyst on right kidney, small bowel anastomosis and small bowel intussusception. Was told this was due to my previous surgery in 2007 however, no other scans state the abnormality. Continued to loss weight, strength, balance, increased joint pain/swelling/night sweats, insomnia. Deteriorated, worse chest pain shortness of breath. Self-monitoring showed heart rate of 160 and o2 sat 70s. Admitted and found deficient in all essential and nonessential amino acids as well a vitamin B12 and pancreatic enzymes. Spent two week on TPN. Still having chest pains, heart racing, shortness of breath, severe nausea and constipation. Doctor diagnosed Ehlers-Danlos Syndrome due to family history of EDS & Chiari Malformation in great maternal aunt, score of 7 on the Beighton scale, in review of my family and personal medical history, and after looking at my skin hyperextensibility and severe stretch marks for someone who has never been overweight. Researched and requested transfer to University for to see if I needed to be on the TPN actually and to get my POTS diagnosed as no practitioner here would diagnosis it although the cardiologist on my case locally agreed it was likely POTS, but I needed to go to a bigger hospital to get it diagnosed.

2/2016

Admitted to the university hospital. TPN was discontinued due to a normal albumin level and I was told the testing of my amino acids wasn’t reliable; TILT table testing results met diagnostic criteria for POTS; Stool testing revealed fat malabsorption. High 5HiAA and high normetanephrines; High vitamin b 12 and slight hepatomegaly. Discharged to home with Home PT/OT/Nursing, wheelchair, orthotic order, pain, bowel and malabsorption prescriptions; follow up with cardiology, switch to PCP for primary care and ordered to follow up with GI for further investigation of malabsorption and GI problems. PCP referred to sport medicine for EDS treatment and neurology (appointment upcoming) per recommendation of GI to eval for symptoms of MS GI: referred to medical nutrition doctor for assessment of the need for parenteral nutrition due to GI distress, malabsorption and EDS; Swallow eval showed slight dysphagia with incomplete epiglottic inversion and recommended esophagram which is upcoming. Motility study was normal at 4 hours, but the morning of the study I vomited an entirely undigested meal from 9 hours before so my gastroparesis is suspected to be transient in nature; Awaiting scheduling is an ultrasound endoscopy with biopsy to assess my pancreas and to check for eosinophil infiltration as my eosinophils are elevated again. Sleep study ordered showed no need for a cpap, but also showed only  hours of sleep, no REM sleep, o2 desaturation to 82% however not sustained, tachycardia and they failed to mention how I had to keep sipping fluids all night, my husbands was in the room and he saw my hands up in the air moving while I was sleeping and I also bit my tongue very hard during the night and cried out; However none of this was mentioned in the report for some reason. This was a good night for me actually as I didn’t even break out into the severe night sweats I usually do

Present State

Bed/Chair bound due to symptoms of POTS, loss of vision and weakness/imbalance with standing, painful unsteady ambulation with severe neck, back and hip pain with walking or lifting; Neurological disturbances; severe fatigue; continuing to loss weight due to problems with nausea, early satiety and pain, still having constipation, bleeding gums, bleeding internal hemorrhoids, poor muscle control with bowel or bladder movements;  petechia after showers, polyuria, dysuria; joint pain/ swelling/subluxations/rib/hip/shoulder/neck/wrist/ sometimes thumb subluxations; insomnia with night sweats; increased brain fog, confusion, sensory overload, loss of nouns, arthralgia; numbness/tingling in hands and feet; weird tingling sensation wrapping around from front to back; increased anxiety with ridiculous startling; sensory overload; forgetting what I am saying while I am saying it, visual static and colors, other disturbances; high pitched ringing in ears, sometimes roaring in ears; small aspirations with drinking fluids; pills and food getting stuck in throat; Completely dependent on others for assistance for self care; symptoms are bad even when only sitting upright; ovary pain with severe increase in physical pain and symptoms during PMS. Short heavy, painful period


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<3 Thanks for reading and may your days be blessed with peaceful calming vibes <3

0 Replies to “My Ehlers-Danlos Syndrome Medical History”

  1. Hello – I have been looking through your blog this evening and I have found your posts to be really interesting. I’ve shared this post with my friend who suffers from Ehlers-Danlos Syndrome too.

    I look forward to seeing more posts from you 🙂

  2. Thanks so much for your comment!
    It really made me feel good about sharing my journey!

    EDS is a multi-faceted disease process and awareness is so important. I hope to write more soon as at lot is happening but look forward to more frequent updates after we get moved in the spring.

    Thanks for sharing this post with your friend! I look forward to following your journey as well 🙂

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