Rare Disease Affects 10,000,000 Americans

images‘Rare’ Disease Affects 10,000,000 Americans

Ehlers-Danlos Syndrome: First, Do No Harm

Patricia Weltin

Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder. People living with EDS have a defect in collagen, the glue that holds us together. There are six major types of EDS. Vascular (VEDS) is the rarest, but also the most deadly. Hypermobile(HEDS) is the most common EDS. In HEDS, the lack of collagen leads to dislocated joints, soft skin, fragile skin and skin hyper-extensibility. Later in life it can lead to osteoarthritis. Collagen is found throughout the body, so many other issues can arise. Some of the comorbidities of EDS include Chiari malformation, POTS, Gastroperisis, Tethered Spinal Cord, Syringomyelia and the potential culprit Mast Cell Activation Syndrome.

According to the National Institutes of Health (NIH), the incidence of EDS is about 1 in 5,000. Some doctors believe the incidence is closer to 1 in 1,000. In an interview on Virginia This Morning, EDS expert Dr. Fraser C. Henderson, Sr. said of connective tissue disorders “1 in 10 Americans have hypermobility connective tissue disorders.” Physicians and scientists have identified more than 200 heritable connective tissue disorders including Ehlers-Danlos Syndrome, Epidermolysis Bullosa, Marfan Syndrome and Osteogenesis Imperfecta.

Recently, Ehlers-Danlos Syndrome has made national news. ABC News’ 20/20 told the story of a young man with EDS who holds the Guinness World Record for most flexible person. 20/20 also told the story of young parents, Brandon and Cynthia Ross, fighting charges of child abuse leveled at the baby’s father after they brought their son to the doctor for swelling in his leg. It only took days for the hospital to allege child abuse. Brandon Ross was arrested. The Ross’ say their son, Ryder, has been diagnosed with Ehlers-Danlos Syndrome.

I first heard of the disorder, Ehlers-Danlos Syndrome, three years ago. I met a woman, who would later become my friend and my colleague, who was living with EDS. She had silver braces on her hands to hold her joints together and was in a great deal of pain. I learned that it took her over 50 years to get diagnosed and in the end she had diagnosed herself, a diagnosis which was later confirmed by one of the few EDS experts in the country. I could not imagine the years of suffering and pain, but I was comforted by the fact that EDS was rare and that few people suffered as Sandi had.

I could not have been more wrong. In my role as CEO of Rare Disease United Foundation, a non-disease specific, rare disease advocacy organization I read everything I can find related to rare diseases. I belong to dozens of disease specific groups. I read thousands of posts every month. I receive requests for help and advice almost daily. From my view of observing all things rare, I started to see a disturbing pattern; EDS was far more prevalent than any other ‘rare’ disease. In spring of 2014, my oldest daughter, Olivia, started experiencing severe unexplained pain. Her teeth were falling out. Because Olivia has Hypermelanosis of Ito (HI), I assumed her issues were related to HI. Doctors could not make the connection between HI and her symptoms. It was a mystery, but the truth was hidden in plain sight. Olivia and my youngest daughter, Hana, were diagnosed with Ehlers-Danlos Syndrome.

Ehlers-Danlos Syndrome affects more people than HIV, Parkinson’s, Breast Cancer, MS, and Type I Diabetes. There are 5 million people living with fibromyalgia, many or most are probably suffering from a connective tissue disorder. Ehlers-Danlos Syndrome is debilitating and because of the decades long wait for a diagnosis and the amount of people forced to go on disability, it is likely one of the country’s most costly diseases, well into the billions.

The estimate of 10,000,000 suffering from EDS is likely far lower than the reality. The reality is ugly. The suffering is real. The accusations of abuse are usually not. First, do no harm.

I call on the medical community to educate yourselves on Ehlers-Danlos Syndrome. This quote by Dr. Heidi Collins “If you can’t connect the issues, think connective tissues” should guide you when you are presented with a complex case. Never forget your Hippocratic Oath, especially ‘First, do no harm’ and ‘I will not be ashamed to say, “I know not.”

I call on our country’s leaders for sufficient funding to the NIH for the study of connective tissue disorders. Our money will be well spent.

I call on the media to report the real story of EDS. Here are some suggested headlines:

Millions Suffering from ‘Rare’ Disease

Ehlers-Danlos Syndrome: Making the Connection to Connective Tissue

Ehlers Danlos Syndrome: How the Hell Did This Happen?

The real story here is in an age of advanced medical science millions of people are suffering from a disease most doctors never heard of. The story here is millions of people are undiagnosed. The story here is millions of people suffer without a treatment.

First, do no harm.

*In a recent study out of the NIH, researchers found that a connection could be made among these common HEDS comorbids: Joint Hypermobility, Mast Cell Activation Syndrome, Postural Orthostatic Tachycardia Syndrome and gastrointestinal complaints. Many had elevated levels of tryptase – a protein in the blood often associated with allergic reactions. They have estimated that 4-6% of the general population have elevated tryptase levels. More people are living with the ‘rare’ disease Ehlers-Danlos Syndrome than Alzheimer’s! There should be a huge increase in funding for this research. Every single doctor should be educated in EDS because they are likely to see several patients in their career and they will be baffled. They will misdiagnose. They will dismiss. They will tell millions of people that it is all in their heads, like doctors did to my daughter. Let’s end the needless suffering now and at the very least get these people a correct diagnosis.

On Being an Advocate

20150206_Salerno_RareDiseaseUnitedFoundation_BeyondDiagnosisArtExhibit_Frame0061

On Being an Advocate

Patricia Weltin

The week before World Rare Disease Day is chaotic, it is also a reminder of why I became an advocate. Of course, the short answer is that my children have a rare disease. I had already become Olivia’s advocate while we traveled from that one nanosecond that you know something is not right with your child until our ever-changing present. At first, we are able to brush aside our concerns, placated by doctors, friends and family. Then we can no longer avoid the tearing at our heart because our child is not well.

I find that helping others in a similar situation gives me an outlet for my grief, a sense of knowing, and a feeling that if l looked in another mother’s eyes I would see the depths of my fears reflected there and know I was not alone. Advocacy also gives me a sense of control over something I feel controls me much of the time.

After about six months of advocating for rare, it became like second nature. I rarely dislike my work, but it will push you to your limits. There are no days off. There are no nights that you don’t fall asleep reading medical articles and anything and everything rare. Sometimes, I don’t like the work because I see too much. I often feel ashamed because the country I live in and love sees my child as less, or worse doesn’t see them at all. Maybe one day they will see us and I will be out of a job. Until then, we have a lot of work to do.