Thursday, April 26, 2012

This is what is wrong with my Genes.....

My name is Amy and I was diagnosed with Ehlers-Danlos Syndrome at the age of 44 in Sept 2011. I posted this blog post in 2012 and it is now 2023 so I am updating the information here because this have changed in the world of understanding EDS and also in my diagnosis. When you have Ehlers Danlos Syndrome it takes a long time to find out all of the damage and disorders and syndromes and autoimmune problems that you have that would have been missed for most people. It is not uncommon to be diagnosed with many different types of illnesses or disorder and such. It's embarrassing but there is nothing the EDS can do about the things they are diagnosed with, meaning there is usually no cure and sometimes no treatment, and there is nothing the EDS patient did to cause these issues. The condition of the EDS patient is a result of the EDS and cannot be blamed on the patient nor can they just magically feel better. EDS cannot be compared to anything that your aunt or neighbor or mother or cousin has, unless they have EDS and even then it effects all people in different ways. There are somethings that are a given if you have EDS that you will struggle with but not everyone with EDS with struggle with them in the same way.

Please be kind and understanding and most of all keep your opinions to yourself of what you think will help the EDS patient. What we need the most is knowing that we are accepted for just being us and that you are not judging us on our ability to function on any level from previous days. The ability to function changes from day to day and lots of time from hour to hour in any given day.

I hope that you will be able to learn about EDS and what it is and how you get it and what can be done about it. I am going to share my story in a very personal way here in this blog but also I am providing educational information about EDS as well. There is more involved in living with EDS that even EDS patients can imagine and because it is different for everyone things that I share will not relate to everyone with EDS but there will be things that being chronically ill will have in common and I hope those things will bring teaching, comfort, understanding and encouragment to keep pushing forward and never giving up. 

This information is provided so that one can understand the debilitating effects that Ehlers-Danlos Syndrome has on my body. Ehlers-Danlos Syndrome is a rare genetic disease with 8 different types of the syndrome. I have what is called Classical type I which affects 1 in 20-50,000 people. The list of my what I have been diagnosed with throught my life is included later in this post. They say that the good news about EDS is that it won’t kill you, and the bad news is that EDS won’t kill you. I have lots of issues with my heart that are alarming and of course dangerus.  As a child with EDS, the patient experiences chronic pain which is brushed off as growing pains and the over flexibility, which causes many many injuries and is referred to as one being double jointed.  The patient, from early childhood, feels different than those around them and is often depressed because they usually cannot participate in activities that those around them are doing which leaves them being labeled as lazy so, many of them push themselves to participate with the result being a silence of pain and suffering. As a child, I was active in different activities although I did them with pain.

Since EDS is a genetic disorder often more than one family member is affected.  In my case, I am adopted and no one in my adopted family has EDS so I was never able to relate my pain and problems with anyone else in my family.  My dad’s favorite line is, “Oh there is always something wrong with you.” Well, he is right, but I can’t help it, it is just the way my body is. I recently got in touch with my half-sister, she and I share a birth father.  My sister has EDS as well as two of her children.  

Below is a list of my illnesses that I have been diagnosed with, that I can think of, and the symptoms that I deal with. These things are very common with people with EDS. EDS is different in each person and because there are so many symptoms that match other illnesses EDS is often left undiagnosed until patients are in their 30’s or 40’s. 

Because our bodies are made up of 80% collagen that means that every part of the entire body is affected and since patients with EDS have faulty collagen or not enough collagen everything that involves collagen is compromised.  It is a genetic disease that affects 8 some doctors say 15 of the 24 chromosomes that humans are made up of.  There is no cure for EDS and there are no medicines for it other than an attempt at lessening the chronic pain. Patients with EDS have chronic pain 24/7.  Having all of these conditions without knowing that it is all caused by Ehlers-Danlos Syndrome leaves the patient feeling like they are crazy for having all of these things and the fact the many many doctors don’t know about or much about EDS causes them to discredit the patient and tell the patient that these things are all in their heads. EDS patients make many trips to the doctor and many trips to the ER as well where the patient is misunderstood or often seen as a drug seeker. In the past I have gone to the ER at least 2-3 times a month for many different reasons  and at one time I had 19 doctors that I saw on a regular basis. Just keeping up with doctor appointments is a job in itself.  

Parent’s, teacher’s doctors, counselor’s, and friends often judge the patient stating that they are lazy and hypochondriacs.  To many, it does not seem humanly impossible for one person to have some many illnesses and symptoms and still be alive or not a liar.  Patient’s with EDS face a future of deterioration in their bodies which grows more and more as the patient ages and since there is no cure for EDS and the only treatment is to try and control the pain there is not much else that can be done. As you can see from what is listed below there is not enough medicine to take care of all of these symptoms and if there were, taking all of that medicine would kill a person.

Each day I am dizzy, have a headache, body pain throughout, several joint dislocations or subluxations, muscle cramps and burning muscles, confusion, irritability, chronic fatigue, insomnia and most of all discouragement just to name a few.  Depression is a given with EDS as the patient watches life slip away from them as EDS not only affects the entire body but everything that one does in life. Daily I have to think about each thing that I do because of all the pain and other symptoms I have my endurance is greatly limited in a day. For example, If I am going to go grocery shopping then I know that I can't also wash dishes on the same day as I rarely have enough energy to do both in one day.  It is not just the pain that stops me but the chronic fatigue from the energy that the body burns when it is in pain. My life has been very hard dealing with pain and illness and being left out of life.  I have developed a very high pain tolerance having EDS so when I say that I am hurting it is more than the usual daily pain.  

I hope that you can tell that I am more than overwhelmed with having EDS and the outlook of my future as my parents are in their mid 70’s with health issues of their own.  Also, I have no husband and no children who can help take care of me now or in the future.  I feel very alone with this disease because people just cannot understand all that I deal with and when I do share instead of just listening and supporting me, they all give advice on how to treat this or that or they preach to me about healing and how my faith is lacking because I have not been healed. I am sure that I am guilty of some of the same things in offering help to others, and please forgive me if I have ever done that to you. I am terrified, frustrated, angry, grieving what I always thought my life would be like and I am very ill.  Because I didn’t know that I had EDS I always thought that I had done something wrong to cause all my pain so I have been very hard on myself and for a long time. I have been holding on to the hope, actually for me it was a fact that one day I would get better so that I will be able to go back to the mission field.  Now that I know that EDS will take away my ability to function on my own, my vision and hope and the assurance of knowing what I believed God created me to do are lost to me right now.  I need help right now just to stay alive and I see that living the rest of my life without the ability to do what I feel I was created to do seems pointless and a waste of time.  I know that my thinking can change and I need encouragement to help me make it through this time.  

In all, I have had
Surgeries: 23 that are related to EDS both minor and major

Conditions I have been diagnosed with throughout my life, that I can think of: (at birth I had very low APGAR scores, and I had a hard time learning to walk, which can be markers of EDS) There are 47 + conditions that have been diagnosed with and I have 44 of these illnesses currently that I can think of.

Ehlers-Danlos Syndrome Classical type Beighton scale I scored 9-9  

Genetic Disorders and conditions as a result of them:

  • Elhers-Danlos Syndrome Classical type Beighton scale I scored 9-9 (wondering if I have some vascular cross over)  
  • Osteogenesis Imperfecta Type 1 
  • Hemochromatosis type 2. 1 heterozygous for H63D 
  • Mast Cell Activation disorder/syndrome 
  • Postural Orthostatic Tachycardia syndrome (POTS)  
  • Dysautonomia
  • Kidney reflux corrected when I was three (damaged kidney – not sure which
  • one) 
  • Chronic Kidney Infections 
  • Central vestibulopathy due to abnormal tracking, saccades, OPK, positional and
  • Hallpike right with possibilities of lesions to include dorsal vermis of the cerebellum and
  • intrinsic brainstem lesion 
  • Peripheral vestibulopathy due to right acute labyrinthine or vestibular nerve injury
  • >2 weeks of age and left caloric weakness with possible etiologies to include vestibular neuronitis, labyrinthitis, otitis media, Meniere’s disease, or cerebellopontine angle pathology 
  • Depression
  • Dissociative Identity Disorder (mainly from medical issues in very early childhood)
  • Eating disorder – for 40 yrs. overeating/ 13 yrs starving, purging, Bulimia  
  • Insomnia  
  • Obsessive-compulsive disorder (OCD)  
  • Dyslexia 
  • Tinnitus
  • Anemia 
  • vitamin B & D & C & K deficiency 
  • Iron deficiency  
  • Heart Conditions:
  • Artrial Fibrillation 
  • PFO grade IV 
  • Atrial septal defect (ASD)  
  • Atrial septal aneurysm (ASA) 
  • Tricuspid Regurgitation 
  • Mitral Regurgitation 
  • Platypnea-orthodeoxia   
  • Ventricular tachycardia, probably related with a scar in the left ventricle  
  • Premature atrial contractions (PAC) 
  • Supraventricular Tachycardia (SVT) 
  • Normal left ventricular systolic function with mild diastolic dysfunction 
  • Autoimmune Disorders:
  • Lupus 
  • Epstein Barr/Chronic fatigue 
  • I have Mono virus that flares up  
  • Lyme disease (In Ehlers Danlos sometimes people test positive with Lyme
  • because the same items show up as high in blood work. When I tested positive I had just been bitten by a tick and was treated right away with antibiotics)  
  • Hormonal Disorders:
  • PCOS Poly Cystic Ovary Syndrome 
  • Obesity 
  • Metabolic Syndrome  
  • Hypothyroidism
  • Hyperthyroidism
  • Parathyroid blood counts get extremely high at times
  • Insulin Resistance 
  • Enlarged Thyroid with a cyst  
  • Cyst on Adrenal gland 
  • Lung:
  • Asthma 
  • Pleurisy (4-5 x’s)
  • Bronchitis (get this often)
  • Atelectasis on several occasions
  • Allergies are grass, tree nuts, dust  
  • Muscle/Skeletal:
  • RA 
  • Intracranial hypertension 
  • Ankylosing spondylitis (AS) – possible- L5 and L6 (not sure which ones) have fused on their own   
  • Fibromyalgia
  • Degenerate Disk Disease -T1 and T2 within the C7 vertebral body there is a hemangioma, C2-3,
  • C3-4, C4-5, C5-6, C6-7. C7-T1 Mild disc desiccation,
  • Scoliosis – mild. 
  • Costochondritis
  • Extra bones in feet 
  • Flat feet 
  • Gangling cysts
  • Atelectasis Atelectasis
  • Gastro:
  • Gallbladder disease - Gallbladder out 1993 
  • Diverticulitis
  • GERD (Gastroesophageal reflux disease) 
  • Irritable bowel syndrome
  • Gastritis 
  • Stomach ulcers  
  • Small lesions on esophagus 
  • Hiatal hernia  

Symptoms: I experience almost all of these within a day or several times a week,  there are a few that only happen once or twice a month. In all, there are 146 with 63 of them being crossovers meaning that they are the same in different illnesses.  

I know that many people experience many of these symptoms at times or even daily in their lives. I am just trying to gather all of the symptoms to help myself and my family and doctors understand what it is that I am experiencing. 


General/or Overall:
The rest of the symptoms are broken down by groupings.

  1. Dysautonomia
  2. Overachiever/ perfectionist
  3. Chronic Fatigue.
  4. Poor balance / Clumsiness.
  5. Difficulty walking on the uneven ground/feeling ground under feet and not being able to walk if it is too dark to see my feet.
  6. Poor / degraded motor skills at times.
  7. Difficulty driving at times.
  8. Insomnia.
  9. Burnout
  10. Poor blood circulation / cold hands & feet & end of nose. Once I get cold my face gets really really hot like it is trying to warm me up and then I get overly hot.
  11. Decreased muscle tone.
  12. Depth perception problems.
  13. Loss of sexual interest.
  14. Slurred speech.
  15. Dehydration / excessive thirst.
  16. Electric like burning sensations.
  17. Joint dislocation and subluxation.
  18. Spontaneous easy reduction or replacement of the finger digits and shoulders.
  19. Hypermobile joints pain, and sometimes the "cracking" or "popping" of them feels like it relieves the pressure.
  20. Sprains  
  21. Easy bruising, delayed wound healing {I always get bruises that I don’t know how I got them}.
  22. Low body temperature, have trouble controlling their body temperatures when exposed to heat or cold.  My normal temp is 96.7 so at 98.7 I am running a temp the same as a normal person would be running at 100.  If I get too cold I can’t get warm and my face gets really hot and red when I am really cold, when I get really hot I feel like I can’t breathe and that I will pass out.
  23. There have been times when it was hard to feel my pulse.
  24. IV (intravenous) access and even sometimes simply drawing blood for testing may require multiple attempts;{Always at least 3 or more tries}
  25. Decreased reflexes. {My reflexes never work when the doctor checks them}
  26. Bipolar feelings of worthlessness and profound depression low self-confidence.
  27. Inability to cope with daily tasks or mental confusion.
  28. Muscular pain.
  29. Near fainting.
  30. Generalized weakness.
  31. Tremulousness -being shaky.
  32. Excessive sweating, face gets so hot and red and then at the end of it I get clammy  - just once in a while.
  33. Exercise intolerance.
  34. Postprandial hypotension - low blood pressure - when I am laying down it can be as low and 89/50.
  35. Intolerance to heat.
  36. Chills - happens sometimes when I lay down, starts in the stomach and moves up and down my body, not really the same as being cold.
  37. Chemical sensitivities – I am very sensitive to medications. 
  38. Weight gain.
  39. Sometimes I get so hot that my skin and face to touch it feels like hot bread out of an oven, my face gets so red and hot that it hurts, my eyes burn and I sweat sometimes and sometimes when this happens I don’t sweat as much but I always end up feeling clammy and then I get chills and my skin looks pale and I get lightheaded and dizzy, my ears sometimes buzz or ring, I get out of breath and my chest gets very tight sometimes my heart races and sometimes if just beats hard, when I cool down it happens all of a sudden and then I feel like I have chills and my arms feel like they were drained like I taken a water pill then I get very very tired and can sleep hard for several hours afterward.
  40. Joint pain in all joints.
  41. Growing pains in childhood very severe.
  42. Pain when changing position
  43. Malabsorption – shown in blood test.
  44. Anemia – shown in blood test. 
  45. Tingling sensations
Head & Neck & Face
  1. Headache (at lower back of head) upon waking and lasts most of the morning, headache in the front on my forehead but my neck feels very tight at the base of my head and neck. Bending forward or looking up worsens the headache,
  2. Migraines.
  3. Vertigo from position change or sudden standing or standing too long.
  4. Mental fog, hard time typing correct letters and remembering what order to do things in, learning disabilities, concentration difficulties. Often search for the right word, sometimes forget how to spell things and have on several occasion have forgotten my name, have a hard time saying the right word correctly.
  5. A sense of not being present; absence of focus or a lack of clarity{sometimes I just can’t focus and remember things that are told to me} Feeling detached from surroundings -  sometimes I can't feel my legs or arms and sometimes I feel like I am just in a daze and nothing around me is real.
  6. Decreased mental stamina
  7. Memory loss.
  8. Tingling / crawling feeling on scalp and both sides of face. When this happens it feels like the top of my head is missing.
  9. Popping/cracking sounds in neck or upper back when stretching
  10. Neck spasms.
  11. Pressure/pain in the neck. Painful tension in neck. Aching neck.
  12. Pain in neck on both sides.
  13. Dizziness often worse with headache, and more noticeable when changing position. I often get headaches and my balance is not great, I tend to tip over at times. Bending over to pick something up always makes me dizzy and short of breath.
  14. Dizzy, can’t lay flat I get very dizzy and when I stand up from laying flat my heart races and I almost pass out, must have several pillows to sleep but I still get dizzy sometimes.
  15. A sensation of spinning (vertigo). Spontaneous vertigo.
  16. Lightheaded, feels like the top of my head is missing.
  17. Flushing.
  18. Rash on face. Across cheeks sometimes a butterfly shape and on forehead is itchy.
  19. Brown skin patches
  20. Hair on chin.
  21. Thinning hair at times.
 Eyes & Ears & Nose & Mouth
  1. Pain & tension along ear / eye / jaw line. Left low jaw pain.
  2. Sensitivity to bright lights, spasm of the eyelids.
  3. Difficulty reading / focusing on text.
  4. Blurry vision.
  5. Tunnel vision on occasion when I get very dizzy.
  6. Pain/pressure behind the eyes (soreness in the eyeballs).
  7. Photophobic, {I always squint my eyes in the sun, sometimes even shades don’t help} 
  8. Dry eyes. hard to focus at times, floaters, sometimes it feels like I have a film over my eyes.
  9. Eyes watering excessively upon waking.
  10. Ringing in the ears at times.
  11. Fluid-like sound in ears (like water running)
  12.  Pressure in ears/ears feels stopped up.
  13. Intolerance to loud/confusing sounds.
  14. Ears ache, like a deep ache.
  15. Sensitivity to smells.
  16. Sinus / mucous problems, always feel like I need to clear my throat.
  17. Clenching of teeth.
  18. Difficulty swallowing/lump in throat / sore throat / swollen lymph nodes at times.
  19. Hypermobile tongue, able to touch at least the end of their nose with it easily.
  20. Drooling at times it seems that I have too much spit.
  21. Tongue stings on sides and tip.
  22. A high palate and crowded baby {when I got my braces I had to have 6 teeth pulled, I had too many teeth for my little mouth. My mouth is small}
  23. Bleeding gums, Receding gums.
  24. TMJ  Often if in a dental chair with mouth open.
 Shoulders & Back
  1. Scoliosis – mild.
  2. Degenerate Disk Disease.
  3. Burning sensation in shoulder blades.
  4. Aching shoulders. 
  5. Low back pain.

Heart& Lungs & Stomach & Kidneys

  1. Tachycardia - fast heart rate and palpitations at rest or on exertion.
  2. Sudden/abrupt changes in blood pressure due to awkward position of head.
  3. Arrhythmias
  4. Heartbeats very hard, can see my shirt pumping with my heart. Pulse was always 80 or lower, about 12 yrs ago I was put on a med for rapid heartbeat (with med 110- without 120 or more)and was taking off them and heart rate was not high again, other than fast heart rate close to my period, now heart rate averages 80 or lower unless I am standing then it is 95 or higher.
  5. Shortness of breath.
  6. Hyperventilation
  7. Chest discomfort and pain. Pressure/tightness in chest
  8. Wheezing
  9. Chest pain, heaviness, aching, stabbing, tightness, catch in side when taking deep breath, hard to get a good breath in, often feel as if I am out of breath, burning sensation at top of lungs
  10. BP always between 120/80 - 95/55 (unless when running temp or having a headache).
  11. Rib pain.
  12. Breast pain, burning sensation and aching.
  13. Nausea.
  14. Reflux and GERD.
  15. Hiatal hernia
  16. Delayed gastric emptying.
  17. Irritable bowel.
  18. Bloating after meals.
  19. Stomach pain, cramps, belching with reflux, heartburn, reflux, gas, nausea, hunger comes on all of a sudden and when I begin to eat I become extremely full very quickly.
  20. Loss of appetite.
  21. Hiccups associated with drinking carbonated beverages.
  22. Menstrual problems / severe cramping during period at times. Irregular menstrual cycles.
  23. Frequent urination.
  24. Urinary urgency
  25. Frequency of urination at night
  26. Urinary symptoms while walking up stairs 
  27. Diarrhea

Arms & Legs
  1. Difficulty or pain walking.
  2. Difficulty negotiating steps
  3. Sever muscles cramps “Charlie horse” in legs.
  4. Legs have purple bumps on them all the time and when I get out of the shower my legs look purple.
  5. Leg pain, shins have stabbing pains often, applying pressure helps.
  6. Intense itchiness on shins.
  7. Major pain in muscles in arms.
  8. Arms feel heavy sometimes. 
  9. Keep my knees bent at night

Hands & Feet
  1. Tingling/numbness –in hands.
  2. Hand tremors.
  3. It is difficult to write, poor hand coordination.
  4. Flatfooted.
  5. Major foot pain all the time, bones in feet roll on top of each other.
  6. Burning under the soles of feet

  1. Soft, velvety skin that is fragile skin is elastic (stretchy) Very soft body as a baby.
  2. Scars that widen over time to create characteristic shallow "cigarette paper" scars.{My surgical scars and stretch marks look like that}
  3. Dry skin and lips.
  4. Intense itchiness
  5. Skin lesions, I get what looks like an inside-out scar and it starts as a bump and will be a sore for months at a time and they itch.
  6. Papular lesions
  7. Skin bumps - 1-5cm diameter, red, pink or yellow
  8. Translucent skin where the blood vessels below are clearly visible. In the bends of my arms, wrists,  and tops of feet.
  9. Severe hives from too much histamine from an SSRI on two different occasions.

I know that it may seem impossible for one person to have so many of these symptoms and diagnoses but if you have Ehlers-Danlos then you know that it is very common.  I am sure that I have forgotten some things for my list and as an update at the time of this posting I have found out a few other things that are wrong with me as a result of EDS.

Please feel free to come back as often as you like to learn about EDS.