My Dear Friend

What happened to my friend!?!

I am sure you have all seen by now how much she is struggling. Praying to God and using all her strength to keep it together and raise her family. She cried out for help this last April to no avail.

{My 16 year old daughter, Jenicee, is in need of assistance...We need at least $600, at this time, for her to see Dr. Paolo Bolognese, MD Neurosurgeon. She has been diagnosed with Cerebellar Ectopia=Chiari Malformation but the NS didn't want to put the Chiari dx down because he didn't feel all of her symptoms were related...of course not, they also go along with tethered cord syndrome! (She also has Hypermobile Ehlers Danlos Syndrome with multiple crossovers, gastroparesis, several types of neurocardiogenic dysautonomia, has had several surgeries -including having just had to have her right knee repaired after a fall-her kidneys are not doing well at all, and many more issues that would take a page to list.) I have already sent most of her medical records from JHH, WVU Hospitals, and DC Children's National to Dr. Bolognese to review. He had his nurse call and tell me that he sees several issues on her imaging that he feels need attention. Jenicee's body is quickly and progressively failing. She went from walking "normally" to needing a walker, to now wheel chair in less than 1 year. She also has went from eating mostly normal to NG tube, to PEG Tube, to G-J Tube. Jenicee has Maryland Medicaid and they will not pay out of state...we have appealed to no end...because she has seen this one NS and and a couple of other local NS, even the "Pediatric Section Chief of Neurosurgery" at Johns Hopkins-that don't know their arse from a hole in the ground, we cannot get approval for any reason unless she sees Dr. B and he can show proof that she needs surgical help that only he can provide. Children's Miracle Network said they may be able to help with surgical costs but she has to be an "established patient."}

Their family has been through so much! I can't even go into how much more there is to say. I wont get that personal today. But I understand why nobody helped. They would have to get ahold of her.. somehow. Then get an address from her to do anything. Well, things have changed since then. She now has a paypal account and the email is jonniejo_mcd@hotmail.com 

I am praying with JonnieJo and her family that somebody
who reads this could possibly help them find hope!

You can help JonnieJo and families like hers by clicking along the right side of this blog to learn more about them.

American Ninja Warrior

Did you guys see American Ninja Warrior? Michael Stranger's wife said she has Ehlers Danlos Syndrome and that for her it is a terminal illness. She has received a ton of backlash within the EDS community because she called it terminal which to many people means that a person is believed to have six months or less of life to live. This is a quote (by permission) about this topic from an EDS support group but warning that it is (at least to me) very intense:

"In just the last week, we've lost five of our zebras from our support groups here on Facebook. They have died from EDS or EDS related comorbidities. There is a common misconception that you have to have the vascular type to die from EDS and that's simply not true. Anyone who tells you EDS can't kill you is either misinformed or is afraid of their own mortality. That doesn't mean it's a death sentence for every person, but we have to be realistic. 80% of our bodies are made up of collagen and zebras have defective collagen. That means 80% of our body parts have the potential to fail on us in some way, which could potentially lead to our death if it goes undetected or untreated. And many of our comorbidities cause other systems to fail in this sort of cascading effect that doctors find hard to diagnose and deal with. In other words, one thing goes wrong, and then it's like dominoes. That can result in disability or death fairly quickly, which is what happened in Barbie's case this week.
So the short answer is, "terminal" is probably the wrong word to use. "Fatal" or "morbid" might have been better, I don't know. I'm not up on the proper terminology. The point they were trying to get across is the seriousness of the disease and I'm very, very glad they did because the seriousness is what's going to bring more awareness for us, which is desperately lacking. Five zebras died suddenly this week. Those are just the ones we know of. They were young and vibrant and better treatment might have saved them."

~By Lael Youngblood Tallini

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We are desperate for attention on awareness for research and to get questions finally answered.
You can also help by donating to the nonprofits above or the families found on the right side of the blog page.
Thank you for your support!!

Unknown Author

I was thinking today that when we refer to an illness as being “manageable”, healthy people assume we mean we can “live with it easily”–but that isn’t true at all.

My illnesses might not be killing me just yet, but it still infringes upon my quality of life just about everyday. And I’m not saying that for pity. I’m saying it because it’s true and I don’t feel like healthy people understand that.

Manageable really just refers to the ability to lessen the intensity of certain symptoms (Is that even a good way to put it?)

It doesn’t mean I’m cured, or not in pain, or healthy .. at all.

I think this misunderstanding is adding to the lack of compassion and confusing the people around me about what chronic illness is, and what it’s like to live with one.

I think this is why it’s important for us to tell our stories.

~Unknown Author~

Call to Action

Now is your chance! Navigate up to the top of this blog for links to research. To the right are families who NEED your help. LIKE/SHARE!

Donate to what? Can you spell that?

Have you donated to cancer research? That is an excellent way to support chronic illness! Please read through this post:

One rainy Saturday night in February, I stood over a sink in a public restroom, silently washing my hands. I looked over to see a woman at the sink opposite of me; she seemed to be reviewing my reflection in the large bathroom mirror.

Her gaze hovering intently on the pale pink Power Port scar above my right breast, and the feeding tube delicately hung over my skirt. Locating her gaze to meet my eyes, she very frankly asked, “Do you have cancer?”

I shook my head and replied that I did not have cancer, but a rare disease called systemic scleroderma. The woman without a word shut off her sink, reached over to the paper towel dispenser and then turned back to me. “Oh,” she replied, and quickly left the restroom.

I stood wavering between a few different emotions: anger, hurt, disappointment and unbelief. Did my disease really deserve nothing better than a simple “Oh”? I pondered for a moment what this encounter would have been like if the illness I was stricken by was in fact cancer. This stranger probably would have told me that I was brave, and she may have even shared with me stories of loved ones she knew battling cancer. There most certainly would have been a tear shed, and even a silent hug, followed by a “But you’re so young!” and a sincere “Good luck!” Why is it that only one disease seems to command the compassion of others, while the rest are lost and forgotten?

The answer lies quite simply in our media. With recent releases such as “The Fault in Our Stars,” “Me and Earl and the Dying Girl,” “Chasing Life” and “Red Band Society,” disease seems to have recently stormed the media spotlight. Suddenly illness is a hot Hollywood theme, in one fluid motion leaving vampires who sparkle, ridiculously attractive young werewolves, and supernatural romance in its wake. While many people would argue that it brings media attention to those with medical conditions, some of us are not so swayed. The media portrayal of disease is extremely limited, focusing almost exclusively on cancer.

In the Hollywood world, cancer is portrayed to be a disease that only afflicts devilishly handsome young men and women who all face it valiantly with sarcasm and humor. Their stories are full of “cancer perks,” getting away with shenanigans, and young, tragic romance, leaving at least one main character dead. Think on this for a moment. If a “Fault in Our Stars Two” was created, would you watch it? Before you jump to yes, know the plot. It consists of Hazel, after the devastating loss of her love, living everyday life as someone who is terminally ill. It would probably include a lot of Netflix watching and days spent in bed. Eventually her recurring episodes of fluid-filled lungs would increase; she might suffer horrendous pain that no opiate could ever relieve.

No one is interested in watching endless suffering; viewers want a cure, or a quick demise. Chances are, due to that audience preference, you will never see scleroderma, lupus, multiple sclerosis, mitochondrial disease, Ehlers-Danlos syndrome, myasthenia gravis and so many others life-threatening illnesses portrayed in film. These diseases are what you call chronic and degenerative; this means the patient might have these conditions with no hope for a cure their entire life.

Similar to cancer patients, we are bound to oxygen tanks, feeding tubes, trachs, central lines and other medical devices. We take large amounts of prescription medications, have weekly procedures, surgeries, and tests, attend support groups, struggle with severe pain, anxiety, and depression, mourn over the lose of our former lives and unfortunately, must also watch as the friends we have might die. Many of us actually go through aggressive chemotherapy as treatment for our disease.

Unlike these movie and TV portrayals of illness that have become so popular, chronic illness sufferers receive no “cancer perks,” as the cinema likes to call it. All we receive are snide comments about how we don’t look sick, that we shouldn’t be parking in handicapped spaces, and that we would be healed if we only changed our diet and lifestyle. We sometimes even get told, “At least its not cancer!” The world knows what cancer is; however, the majority of people have no idea what beholds a chronic disease sufferer because they have never been exposed to it. Can we truly blame people for their lack of empathy when all the media feeds them are stories centered on one disease?

So, to the woman in the restroom who decided my disease wasn’t enough to even generate a generic positive reinforcement, I do not hold you accountable. Nevertheless, as a patient suffering from an extremely debilitating, and eventually terminal illness that has destroyed my life, I ask that you please recognize that any disease, whether you’ve heard of it or not, deserves compassion. Original Post

Just Another One of Those. What Do They Call It? Chronic Illnesses?

"Another long name to another chronic illness. Ehlers Danlos Syndrome. This one is rare you say?"

Q. "Just how is Ehlers Danlos Syndrome different than other chronic illnesses? Isn't it another term for fibromyalgia? They just hurt all of the time but look healthy right?"

A. Although Ehlers Danlos Syndrome may remind you of people who have fibromyalgia it is not the same condition. 

Approximately one in 50 Americans are estimated to have fibromyalgia, or between 3 and 6 million people in the U.S. (American College of Rheumatology, 2004)
Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. (Full Web Citation) 

People with fibromyalgia can be diagnosed with EDS and vice versa both correctly and incorrectly. There are some who have both conditions. In fact, many symptoms do overlap. The problem is that the medications found to help people with fibromyalgia do not control symptoms in those with EDS.

Is It Fibromyalgia or Ehlers Danlos Hypermobility Syndrome?

Bruce Buehler, MD, Pediatrics, General, 11:21AM Mar 19, 2012

Fibromyalgia remains an enigma for diagnosis and testing. No specific cause or gene has been isolated. Often it is the diagnosis of exclusion after an extensive medical workup. Recently, patients with Ehlers Danlos syndrome type 1 have been shown to have many of the physical complaints associated with fibromyalgia.

Ehlers Danlos type 1 has a specific gene test. The main clinical features are excessively soft, elastic skin that heals poorly after injury. There is looseness of all the joints with dislocation of the knees, elbows, and shoulders being common. The underlying cause is abnormal collagen causing loose ligaments and poor skin integrity.

Type 3 Ehlers Danlos, also known as hypermobilty type, has the same symptoms but there is no genetic test available yet. The clinical findings to determine type 3 include, cigarette paper scars that are translucent, and a history of joint dislocation after minor lifting. Patients have weak ankles and often experience sprains just walking. Patients can easily push their thumbs back to touch their wrists and younger patients can place there feet behind their heads. Finally, patients can place their hands flat on the floor when bending from the waist. Many patients have mitral valve prolapse.

Patients with Ehlers Danlos hypermobility syndrome experience joint pain, especially after standing or lifting. They have a feeling of pain in their skin, which has not yet been explained. Due to joint mobility, they develop artritis in their late 20s. Many of these symptoms mimic fibromyalagia, but treatment is quite different. Specific medications are used for fibromyalagia, whereas for Ehlers Danlos the treatment is intensive physical therapy and analgesics. Physical therapy is focused on strengthening the muscles above the joints while not stretching the ligaments. Skin lacerations should include subcutaneous sutures, trying to avoid suturing the skin alone." (Full Web Citation)


There are medications and treatments found for fibromyalgia.
There are few doctors who have even heard of EDS.

This puts people who have EDS is a very hard situation. Most have to find their own way to find treatment and adequate care. They are prone to surgery and pain. Lack of support and research creates a need.

Few people have EDS and so there aren't many to spread the word of the need to research and help with the condition. This is where you could help. If you donate just ten dollars to research and then one dollar to the families listed on this site, you would fund hope.

Annabelle Griffin with Vascular Ehlers-Danlos on ITV

Ehlers Danlos Syndrome Support For Families

Ehlers Danlos Syndrome The Story of Pain Revealed By 3 Days Grace

ShoutOut to Stiff Zebras!

The few people out there who know anything about Ehlers Danlos Syndrome are unaware that it is possible to have this suffering without hypermobile limbs. We refer to them as stiff zebras. Hypermobility is not required. In the most severe form of Ehlers Danlos (a spectrum disorder), there are people who are hypermobile and people who are stiff. Some family members are hypermobile and others are not and they are all within the same subtype of EDS. The Brighton criteria discusses what requirements there are for joint hypermobility syndrome and EDS. They have to have hypermobility OR arthralgia. So, if you learn about somebody with Ehlers Danlos Syndrome who is not hypermobile know they are in an equal amount of pain as those who are.

What we do have in common in addition to daily muscle pulling, stretching, tearing, and pains is included below. Not everyone will have the same ones but this is a general list.

Joints: • Different types of EDS have differing degrees of joint problems. Joint dislocation and incomplete dislocation called subluxation is common and recurrent. • Spontaneous easy reduction or replacement of the finger digits and shoulders occurs. • Hypermobile joints cause pain, and sometimes the "cracking" or "popping" of them feels like it relieves the pressure. • ‘Pes planus’ or being flatfooted is common and feet can flatten even more as one ages. • EDSers can develop osteoarthritis earlier than typical, and they often have difficulty or pain walking. They can appear klutzy. • Some EDSers’ hands collapse from the pressure of a simple handshake. It is difficult to write, and often finger splints help a great deal. • Cervical (neck) instability occurs in some types, and some people may have trouble holding up their head. • Another frequent joint problem is fluid effusions into the knees, ankles and elbows, primarily in Classical or Kyphoscoliosis types. (effusion: The escape of fluid from the blood vessels or lymphatics into the tissues or a cavity) • In the Kyphoscoliosis type, many infants have severe muscle hypotonia (floppy babies), generalized joint laxity and scoliosis at birth, or develop a progressive scoliosis (a curvature of the spine) within their first year of life. • With Vascular EDS, joint hypermobility may be limited to the small joints of the feet and hands or may be very lax all over. As with other types, VEDS patients often are first diagnosed as hypermobile, only later learning that they have VEDS!

Skin: General EDS skin traits include: • Easy bruising, delayed wound healing, differing types of scarring. • Thinner skin than normal, especially in the Vascular type. • Those with VEDS have translucent skin where the blood vessels below are clearly visible. • Soft, velvety skin that is fragile and sometimes highly elastic (stretchy) is found, especially in the Classical type. • Classical type EDS may experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic shallow "cigarette paper" scars. • Surgical incisions may present problems with healing, with stitching EDS skin sometimes described as "like sewing butter." often requiring sutures being closer together and left in for a longer time than usual. • With severe CEDS, even just leaning on the table with your elbows can cause the skin to split or may have molluscoid pseudotumors on elbows and knees. (molluscoid pseudotumors are small, spongy tumors consisting of fat surrounded by a fibrous capsule found over scars and pressure points). • Skin that sags and wrinkles is characteristic of the Dermatosparaxis type of EDS. Extra (redundant) folds of skin may be present as affected children get older. • Skin hyperextensibility to some degree occurs in all types of EDS except Vascular.

Cardiovascular: • People with EDS tend to have low body temperatures, may have trouble controlling their body temperatures when exposed to heat or cold, and many have blood pressure problems. • Some have dilated aortic roots, incompetent heart valves, and autonomic dystonia or POTS (a syndrome where you have wide and serious blood pressure swings with position changes). • Many people with EDS bruise very easily and often severely. It can be difficult for a medical professional to "feel" their pulse. • Mitral valve prolapse is not a sign of EDS, though someone with EDS may have MVP; it is not diagnostic for this syndrome.

Neurological Symptoms: • Poor balance, severe headaches including migraines . • Decreased deep tendon reflexes. • Intracranial vascular abnormalities. • Brain "fog", a sense of not being present; absence of focus or a lack of clarity • Spinal stenosis (narrowing of spinal column) and/or scoliosis. • Chiari malformation (the brain tonsils protrude down through the forum at the base of the brain) occurs in some EDS patients.

Dental: • Half of all EDS patients have a hypermobile tongue, and are able to touch at least the end of their nose with it easily. • A high palate and crowded baby and adult teeth are common, even though many EDS patients have smaller than normal teeth. The high palate and smaller teeth can make fitting dentures very difficult even when explained to the dentist prior to the dentures being made. • Pre-molar and molar teeth often have high cusps and deep fissures with root problems, and enamel hypoplasia can cause decay and possible early extractions. Sometimes teeth actually crumble when losing the enamel. • Patients with Classical type offer suffer with juvenile periodontal disease. All EDSers are cavity prone, and have increased bleeding from anywhere in the oral cavity due to the fragility of tissues. Braces can cause problems as they can damage the gums and tongue while moving teeth quickly. • TMJ (temporomandibular joint) pain and clicking occur in about 30% of the general population, and about the same incidence occurs in EDSers. Often if in a dental chair with your mouth open for an extended period of time, the joint will repeatedly sublux. Taking a pillow so you can prop your hand up to support your jaw during the procedure will prevent it from happening and also reduce your pain level from TMJ. • Studies have proven that lidocaine (a local anesthetic used during dental procedures) often works poorly or not at all with EDS patients. • Some people with EDS complain of always feeling like there is a lump in their throat when swallowing, and often have other swallowing and voice problems.

GI system: Gastrointestinal complications of EDS run literally from one end to the other. Frequently EDSers suffer from reflux and GERD, stemming from an incompetent esophageal sphincter that allows stomach acid to backflow up the esophagus and cause burns in it. Diverticula have been seen throughout the G.I. tract. • Tissue extensibility and laxity can also cause lack of contraction of the stomach, causing food to not move down into the intestines. • Megacolon and rectal prolapse may also occur, primarily in childhood but megacolon is also seen in adults. (Megacolon is an abnormal dilatation of the colon (a part of the large intestines) that is not caused by mechanical obstruction. The dilatation is often accompanied by a paralysis of the peristaltic movements of the bowel.) • Irritable bowel syndrome is a common co-diagnosis. Constipation can result from the flaccidity of the large bowel, more water being pulled from the stool the longer it remains in the colon, and from pain medications.

Eyes: An EDSer may have many different eye problems depending on the type of Ehlers-Danlos they have including blue sclera, microcornea (very small cornea), epicanthic folds, and wide-spaced eyes. Other common problems are: • Many EDSers are photophobic, some squint causing an "angry" appearance and angiod streaks. • Loose tendons and ligaments around the eye create hard working muscles that get tired. Strabismus is the medical terms for eye conditions commonly called by these various names: eye turns, crossed eyes, cross-eyed, wall-eyes, wandering eyes, deviating eye. • Myopia (near-sightedness), astigmatism, and early presbyopia (a vision condition in which the crystalline lens of your eye loses its flexibility, making it difficult to focus on close objects.) occur often in EDS patients. • Dry eyes are a common and uncomfortable problem. • Other EDS related problems are detached retinas and ectopia (displaced) lenses. • Persons with Ehlers-Danlos syndrome should see an Ophthalmologist annually so the internal eye can be checked for retinal and lens problems among other things. This is not an O.D, a Doctor of Optometry, but an MD with a specialty in eye issues.

Pain: Pain with Ehlers-Danlos syndrome can range from none to chronic debilitating pain. It is subjective, individual, and different for each of us. For many patients, this is the worst symptom of all! Causes of this pain can be repeated trauma of constant instability from recent subluxations and dislocations as well as degenerative joint disease. Sometimes poor posture brought on by lax ligaments and weak abdominal muscles cause increased pressure on the spinal joints. Some with EDS do not have pain; others develop it later in life, and others begin to suffer severe pain as children. • Many things are useful in treating EDS pain such as heated pools (92-94 degrees), gentle stretching, walking (if your joints allow), and emotional support that recognizes the degree of your pain and is non-judgmental. • Occupational Therapists who make splints and assess what you may need may help to make daily life easier. Heat and cold packs help a lot. Always use cold for the first 24 hours after an injury to decrease swelling and limit bleeding into the area, and then switch to heat. • Other possibly helpful things are yoga, relaxation therapy, massage, acupuncture or acupressure, diversion, TENS units and chiropractic maneuvers by a knowledgeable chiropractor. • Common pain management problems are related to medications either in a too low a dose or prescribing the wrong medication, overemphasizing risks, using a "cookbook" approach, patients refusing helpful medications because they worry about addiction, and doctors afraid of prescribing because of their misunderstanding of the DEA laws. • Often pain is undertreated in children, the elderly, and minorities. Less than 2% of all chronic pain patients (not just EDS patients) using pain medications correctly for pain become addicted. One can become dependent, but can be easily weaned off narcotics in a short amount of time. • Medications often used with EDS are: muscle relaxants, NSAIDS, steroids, lidocaine patches, antidepressants, narcotic and nonnarcotic pain medications. Remember that over 4,000 mg. of Tylenol daily causes liver damage. Different combinations of medications work for each individual. • Pain can be completely debilitating and keep you from needed sleep. Often family and friends don't believe you ... the worst part of all.

Emotional Effects of EDS: Should either physical disability or chronic debilitating pain make your life feel destroyed, feelings of worthlessness and profound depression may set in; often talking to a counselor or medical professional will help. Regrettably, a tragedy occurs when we not only have to contend with no longer being able to do the things that we have loved doing, but also has to battle for family and friends' belief, respect and understanding. It appears that everyone with an invisible disability sadly experiences this. While someone with EDS is mourning their loss of ability and freedom, others often accuse them of just being lazy, malingering, or becoming an addict to the pain medications that allow them to live their life. Because of this, we should not confuse their endeavors to live life and be positive with assuming they are feeling well or doing better. Knowing you have EDS doesn't suddenly make things worse for you physically, but may allow for better physical management, and ideally allow for the prevention of any real problems, even if none exist currently. So knowing you have it is not necessarily a bad thing. Personal doubt about one's mental and physical abilities can add to the fear that others can't possibly believe or understand what you're going through. Inability to cope with daily tasks or mental confusion can have a demoralizing effect.

Reference Citation Crediting to EDNF

Among ourselves we have thought of other ideas that could be added to this list but may be brought up during future posts or just elaborating on these.

If you would like to help please see The Full Blog 
                                                    and The Trickle Effect

The Trickle Effect

The mission of this website blog is to provide a place for people who are concerned about those who live through the struggle of Ehlers Danlos Syndrome. If you offer a kindness to such a cause please check out the links at the top of the page where donations to research for a cure can be made. 

The hope is that for every $20.00 donated to the cure research that $1.00 is donated to one of the families currently struggling with this debilitating systemic congenital condition to aid them to a better quality of life. Such families are found along the right side of the blog.

Welcome!

Welcome and thank you for taking the time to view Ehlers Danlos Family Contributions blog. 

There are many reasons to help families in need with ehlers danlos syndrome. Lets begin by defining this connective tissue disorder. 

What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome (EDS) is an inherited condition that affects the connective tissues in the body. Connective tissue is responsible for supporting and structuring the skin, blood vessels, bones, and organs. It is made up of cells, fibrous material, and a protein called collagen. Ehlers-Danlos syndrome is caused by a defect in collagen production. This condition is caused by a group of genetic disorders.


There are six major types of Ehlers-Danlos syndrome:
arthrochalasia
classic
dermatosparaxis
hypermobility
kyphoscoliosis
vascular


The area affected differs with each type of EDS. However, they all have one thing in common: hypermobility. Hypermobility is an unusually large range of movement in the joints.


The hypermobility and classic types of Ehlers-Danlos syndrome are the most common. The other types are rare, with the dermatosparaxis type affecting only 12 children on record worldwide. According to the Genetics Home Reference, EDS is seen in 1 in 5,000 people worldwide (Genetics Home Reference, 2006).


Reference



Now we will continue by discussing challenges related to Ehlers Danlos Syndrome



1. Lack of information from doctors world wide. People with Ehlers Danlos Syndrome usually travel many miles to seek treatment due to scarce familiarity with the condition.



2. Systemic problems occur. Very few people or none with Ehlers Danlos Syndrome have no other medical problems diagnosed. The other diagnosis' are often but not always secondary diagnosis to the Ehlers Danlos Syndrome.



3. Often people with Ehlers Danlos Syndrome are minimized. They are told the problems, being so many, are all in their head. Many have been diagnosed with psychiatric disorders that do not fit them.



4. People with the Vascular type of Ehlers Danlos Syndrome have a lower life expectancy. People with any type are at risk for life threatening complications.

If you are in a position to improve the quality of life for 

people having this condition please act today!


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Research funding options at the top of the page.