- Intro
- My Story
- Ehlers-Danlos
- Dysautonomia
- SPD/SID
- Resources
- Support
- Advocacy
If you hear hoofbeats...
...think horses, not zebras. That's what most medical students are told. Go for the obvious. What happens when the obvious turns out to be incorrect? For some, the answer is treat the symptoms. It may work, it may not. For others, they are told it's "all in their head" or it's "conversion disorder" or "somataform disorder" and to get help. Still even more get shipped from specialist to specialist trying to figure out their symptoms. For many it's an exhausting, trying, painful road to find the diagnosis they need. That's how it was for me.
This time when you hear hoofbeats, it may actually be the Zebra...
Please be patient. This page is still under construction, more will be here soon.
I promise :-)
My Story
My name is Kerrilynn and I am 26 years old. I have Ehlers-Danlos Syndrome Type 3 with some vascular involvement. Secondary to EDS, I also have Dysautonomia which is a malfuction with the autonomic nervous system, my heart-rate is too high ranging from 90 to 140 just from getting up to get a drink or climbing up the stairs. I also have a very low blood pressure, which tends to stay around 90/55, it ranges from 70/40 to 100/60. The dysautonomia causes me to be very fatigued and tired easily. It's very common in people with EDS. I am permanently disabled and have to use a cane or walker for short distances and need to be pushed in a wheelchair for longer distances or if I am not feeling well. I have frequent dislocations and subluxations, sometimes more than 20 times a day. I was only diagnosed when I was 25 years old.
I've had health problems since I was a baby. I was born with a dislocated collarbone and was a colicky baby. As a toddler I was "pigeon-toed" and had to wear braces on my legs and feet in attempts to straighten them. When I was about 10 years old I started to have knee problems and got my first knee brace, at that time I was diagnosed with Condromalacia Patellofemoral Syndrome.) When I was in my teens, I was always twisting, spraining, or injuring something in someway. I was often considered a hypochondriac. When I was 16 I threw my shoulder out from spinning flags (I was part of the flag squad). During competitions I had to wear a sling and dance and perform. I had to ice it immediately after the performance. My senior year in high school is when it started to get really bad. I had horrible hip pain and was on crutches for 3 months and had to use a cane for a few months after that. My classmates were very horrible to me, calling me the "uninjured gimp." While dealing with classmates, keeping my grades up, and just dealing with highschool and preparing for college, I was also having to go for all kinds of tests at the Boston Children's Hospital. I was tested for a barrage of things, from Lymes Disease, Lupus, Bone Cancer, etc. Never occurred to them that I could have EDS, they may not have even been familiar with it since it's so rare. They finally diagnosed me with Undifferentiated Arthritis and Chronic Pain Syndrome and prescribed Physical Therapy. I dealt with the pain and went on with life. After I graduated college, the pain started to get worse and I saw a new Rheumatologist who did a series of bloodwork and I came back with a positive HLA-B27. So then they thought I had Ankylosing Spondylitis and sent me for MRI's and Xrays, not much showed up so then the diagnosis got changed to Undifferentiated Seronegative Spondyloarthropathy. The doctor tried a bunch of different medications that didn't help and basically gave up on me. I sort of gave up on trying to find out what was wrong too.
I started having problems again and looked through some support groups and came across a "Ehlers-Danlos Syndrome and other general hypermobility conditions" forum. So I checked it out (I was told I had very loose joints by the Boston Rheumy). Everything that these people described made so much sense. Then I looked at pictures of people who had EDS and the things that they could do, well I could also do these things. So I did more research and the more I read the more it made sense. I printed out some information and the Beighton scale and brought to my primary (that I have now) and she was familiar with the condition but didn't know much about it. She had me do the Beighton Scale (to test for hypermobility type EDS) and said it was very likely and sent me to the Geneticist who confirmed the diagnoses. Since then I've found some really amazing doctors in the area (from a local friend who also has EDS) who know what EDS is.
Since being diagnosed with EDS, I have also come to learn that I have Sensory Processing Disorder. This means that my brain can not organize sensory input which overwhelms my nervous system which interferes with social interactions and functioning in everyday life. There are a handful of doctors and scientists that believe Sensory Processing Disorder is a form of mild/high functioning autism.
I still struggle daily, still have horrible days, and ok days. I am pretty much home bound, so I do a lot on the internet. I am involved with several support groups (found in the Support section of this page). My hopes is to become and ambassador for people living in chronic pain. I want to spread awareness of this condition and the conditions that tend to come hand in hand with EDS, such as Dysautonomia, Chronic Fatigue Syndrome, Fibromyalgia, etc., as well as Sensory Processing Disorder and other Autistic Spectrum Disorders.
~Kerrilynn
Videos of my experiences can be found on my YouTube Channel.
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome (EDS) is a rare genetic collagen deficiency. Collagen is often referred to the "glue" that holds the body together. Pretty much every part of your body has collagen in it: skin, muscle, teeth, blood vessels, organs, etc. Genetic means that a person is born with it. And deficiency means that there's something missing. It is unclear why, exactly, there is a deficiency, or what causes it. However, there is research that states that several of the genes involved have been identified.
There are multiple types of EDS and is often referred to as the "Zebra Disease" because of the way it manifests. The symptoms of EDS mimics many other connective tissue disease such as Rheumatoid Arthritis, Lupus, etc. The main types are Classical, Hypermobile, and Vascular. However, people diagnosed with one type often will show symptoms of another type. After all collagen affects nearly everything in the body.
The most common symptoms of EDS (of any type) is stretchy skin, joint hypermobility and instability, dislocations or subluxations of joints, easy bruising and many other (more information can be found at the Ehlers-Danlos National Foundation or at GeneReview and do a search for Ehlers-Danlos).
One of the biggest things I want to stress about EDS is that when you've met one person with EDS, you've only met one person with EDS. What I mean by that is that EDS is a very variable condition. It presents in so many different ways. Some people have minor manifestations and are able to live normal relatively healthy lives. Some experiences minor symptoms throughout their lives then all of a sudden it hits them like a ton of bricks. Others seem to get progressively worse as they grow and fight to stay out of a wheelchair at a young age. There are so many different ways that EDS can manifest, which is one of the reasons it is so hard to diagnose. In medical textbooks, EDS is under Rare Genetic Conditions or some similar title and only given a paragraph. What most doctors look for (if they've even heard of EDS) is the stretchy skin. Not every person has super stretchy skin. Not every person has extreme hypermobility or dislocations.
Many people go years without finding the correct diagnosis. Children tend to be naturally flexible and the level of flexibility decreases as a child grows into an adult. Dancers and gymnasts are trained to be flexible. With EDS being genetic, it tends to run in families (note that not always in the same manner). For these reasons families and doctors tend not to pick up on the fact that anything is wrong. As a child/person begins to experience more symptoms it can be seen as clumsiness, growing pains in children and adolescents, or getting older in adults.
Once a person realizes that the symptoms aren't simply going to "go away" or get better with over the counter medications, they will go to their doctor who may not even know what EDS is. The person is then most likely going to be sent for a battery of tests and specialists. Sometimes the only way to get a proper diagnoses is doing some research on their own and then bring the information they find to the doctor. Even then, diagnoses for EDS is mainly based on family history and clinical presentation. Blood tests are virtually useless and skin biopsies are possible to rule out or find if the person has the vascular type, but there are also false negatives.
There are also many other conditions that people with EDS are more susceptable to and sometimes go hand in hand. Some include Dysautonomia, Gastro-Intestinal problems, Chronic Fatigue and many others. More info on this can be found with the links provided in the Resources section.
Dysautonomia
Dysautonomia (pronounced dis-awt-o-nome-ee-ya) is a term that covers conditions in which the Autonomic Nervous System (ANS) malfunctions. The ANS is a complex system and can be very difficult to understand because it controls the unconscious (involuntary) functions of our body. Such functions include the circulatory system, castrointestinal system, urinary system, endocrine system, metabolic processes, regulation of body temperature, and many other functions.
The more common forms of dysautonomia include Orthostatic Intolerance (OI), Postural Orthostatic Tachycardia Sydrome (POTS), Neurocardiogenic Syncope (NCS), Neurally Mediated Hypotension (NMH), Vasovagal Syncope, Non-Familial and Familial Dysautonomia, Post-Viral Dysautonomia, Generalized Dysautonomia, Pure Autonomic Failure, and Multiple Systems Atrophy.
Symptoms of dysautonomia may include tachycardia (marked increase in heart rate), bradycardia (marked decrease in heart rate), chest pain, dangerously low or high blood pressure, wide swings/sudden drops in blood pressure, excessive fatigue, exercise intolerance, dizziness, fainting/near fainting (syncope/presyncope), lightheadedness, gastrointestinal problems, nausea, insomnia, shortness of breath, anxiety, tremulousness, frequent urination, seizures, cognitive impairment, visual blurring/tunneling, migraines, and poor body temperature regulation,.
More specific information on the types and treatment can be found with the links provided in the Resources and Support sections.
Sensory Processing Disorder
~Formerly known as Sensory Integration Dysfunction.
We preceive sensory input through sites, sounds, taste, touch, smells, and movement. Sensory integration is a normal, neurological, developmental process which begins in the womb in continues throughout life. Sensory processing is the process in which the brain takes in information and allows one to put that information into good use. Typical sensory processing occurs when the nervous system takes in sensory stimuli to the brain which organizes the information so that a person can act appropriately within his/her environment. People use sensory processing abilities for social interaction, motor skill development, and focusing/attending so that they can learn.
Sensory Processing Disorder (SPD) is a condition that exists when sensory signals don't get organized into appropriate responses. Pioneering occupational therapist and neuroscientist A. Jean Ayres, PhD, likened SPD to a neurological "traffic jam" that prevents certain parts of the brain from receiving the information needed to interpret sensory information correctly. A person with SPD finds it difficult to process and act upon information received through the senses, which creates challenges in performing countless everyday tasks. Motor clumsiness, behavioral problems, anxiety, depression, school failure, and other impacts may result if the disorder is not treated effectively.
Research by the SPD Foundation indicates that 1 in every 20 children experiences symptoms of Sensory Processing Disorder that are significant enough to affect their ability to participate fully in everyday life. Symptoms of SPD, like those of most disorders, occur within a broad spectrum of severity. While most of us have occasional difficulties processing sensory information, for children and adults with SPD, these difficulties are chronic, and they disrupt everyday life.
SPD can affect people in only one sense–for example, just touch or just sight or just movement–or in multiple senses. One person with SPD may over-respond to sensation and find clothing, physical contact, light, sound, food, or other sensory input to be unbearable. Another might under-respond and show little or no reaction to stimulation, even pain or extreme hot and cold. In children whose sensory processing of messages from the muscles and joints is impaired, posture and motor skills can be affected. These are the "floppy babies" who worry new parents and the kids who get called "klutz" and "spaz" on the playground. Still other children exhibit an appetite for sensation that is in perpetual overdrive. These kids often are misdiagnosed - and inappropriately medicated - for ADHD.
SPD is most commonly diagnosed in children, but people who reach adulthood without treatment also experience symptoms and continue to be affected by their inability to accurately and appropriately interpret sensory messages. These "sensational adults" may have difficulty performing routines and activities involved in work, close relationships, and recreation. Because adults with SPD have struggled for most of their lives, they may also experience depression, underachievement, social isolation, and/or other secondary effects.
Sadly, misdiagnosis is common because many health care professionals are not trained to recognize sensory issues.
Some doctors and scientist believe that SPD is a mild/high-functioning form of autism.
More indepth information and support groups can be found in the Resources and Support sections.
Resources
Ehlers-Danlos National Foundation
GeneReview Articles EDS-Classical, EDS-Hypermobile, EDS-Vascular
National Dysautonomia Research Foundation
Support
But You Don't Look Sick (Home of the Spoon Theory) Support site for many chronic illnesses.
Ehlers-Danlos National Foundation
Support Forums at MDJunction (I am a leader for the EDS Group)
Support Forum at DINET
Advocacy
I am not so sure that I believe in the trite "Everything happens for a reason." However, I do feel that I can turn my experiences into something good. I can reach out to others so that they do not have to go through the things I went through to get a proper diagnoses.
I am currently involved in an advocacy group in Rhode Island. The name of this group is called the Personal Choice Advocacy Panel (PCAP). The group is run through an independent living organisation for people living with chronic conditions called PARI. The purpose of PCAP is to discuss ways to help people with limitations continue to remain as independent as they can. Anyone is welcone to join and we embrace all types of people with any condition or illness and friends and families of people with chronic conditions or illnesses. We welcome many ideas and contributions that can be made towards this group.
I also have a channel on YouTube where I talk about my own experiences living with chronic illness, mainly EDS and it's multitude of "friends," but also about Sensory Processing Disorder and Eating Disorders. When I decided to make the videos I planned on giving more facts about EDS and other things that I deal with. However, I found that giving my own testimonials and experiences and what I personally go through on a daily basis received more responses. To me, this meant that more people would rather hear personal counts that they can relate to rather than just facts. I have connected and reached out to more people that I could have imagined. Knowing this, gave me a sense of responsibility to continue on with my story as well as a purpose.
I hope to continue and grow as an advocate and become as involved as I can to reach out to those who feel they are so alone.
Know Your Rights.
Sign the Petition to get SPD recognized in the Diagnostic and Statistical Manual (DSM)