Showing Our Stripes for Rare Disease Day

By The Migraine Mantras Team

Rare Disease Day, recognized annually on February 28th, brings awareness to various medical conditions that fall under the category of 200,000 patients or fewer in the US, and 2,000 patients or fewer in the EU. An alarming 1 in 20 people will live with a rare disease in their lifetime.

It has been found that 80% of rare diseases have identified genetic origins while others are the result of infections (bacterial or viral), allergies, and environmental causes, or are degenerative and proliferative. 50% of rare diseases affect children.

Over 6,000 rare diseases are characterized by a wide diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Rare diseases are often hidden under relatively common symptoms, leading to misdiagnosis and delaying treatment. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by rare disease patients and their families.

Many of us here at The Migraine Mantras live with rare diseases in combination with our battles with migraine. Today, we are telling our stories of that side of the coin: what it’s like to be diagnosed with a rare disease, how it affects our daily lives, and how we have learned to fight on.


Liza: Avascular Necrosis

WebMD definition: Avascular necrosis (AVN), also called osteonecrosis, aseptic necrosis, or ischemic bone necrosis, is a condition that occurs when there is loss of blood to the bone. Because bone is living tissue that requires blood, an interruption to the blood supply causes bone to die. If not stopped, this process eventually causes the bone to collapse.

Sometime in 2008 I began to have issues with my lower spine. Reluctantly, I went to an orthopedic where he discovered I had a bulging disc and after physical therapy and drug treatment we decided to go for a laminectomy. During my very routine surgery, it was discovered I had AVN and that it was already in the advanced stages.

Avascular necrosis is rare with fewer than 200,000 diagnosed in the United States per year. The cause of AVN continues to be argued, but it is thought that long-time corticosteroids use could be the culprit, as well as joint or bone trauma and fatty deposits in blood vessels. I have since read that autoimmune diseases and chemotherapy might also cause AVN. While my doctor endeavored to save my hip, after the core decompression failed and the bone continued to die, there was no other recourse than hip replacement. I had the surgery in 2009 and I was 35. I was the youngest hip replacement on that surgical ward, but there have been many who have had the surgery younger. There were no complications and while recovery was tough, I’ve not had problems since. However, someone who has had AVN in one joint is at much higher risk to develop it in another joint.

As someone who has a couple of autoimmune diseases, who uses corticosteroids often and gets infusions every six weeks for the autoimmune diseases, I wouldn’t be surprised if I turned up with AVN again. But I am trying to maintain a positive outlook.

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Jeannette: Ehlers Danlos Syndrome, POTS, Colonic Dysmotility, Hemiplegic Migraine

Under the diagnosis of Ehlers Danlos Syndrome, I have 25 separate diagnoses. I also have comorbid conditions such as POTS, colonic dysmotility, as well as sporadic hemiplegic migraine. This is what it means to be systemic — it impacts many of my systems, everywhere there is collagen: my gastrointestinal, endocrine, neurological, musculoskeletal and circulatory systems.

Before knowing the why, being treated as a bunch of individual parts and symptoms was exhausting. It’s important to treat the whole person, the whole body is a system. Sadly, insurance companies pay by the part, not as the whole.


Jorie: Ehlers Danlos Syndrome, POTS, Chiari Malformation

I did not receive any of my rare disease diagnoses until I was well into my 20’s. I’ve battled with my health for almost all my life, but I really felt defeated when I was told I had this strange genetic condition called Ehlers Danlos Syndrome. I had only heard of it in passing, and had really no clue what it meant to actually live with it. Then, I found out I had Chiari Malformation as well.

EDS attacks the body’s connective tissue, causing a range of symptoms including joint instability (dislocations, subluxations, and hypermobility), chronic pain, fragile skin, inability to heal properly, and more. Connective tissue makes up our entire body: skin, bones, blood vessels, etc., which means EDS can be very debilitating. There are 13 known subtypes of EDS—I am diagnosed with the classical genetic type.

As with many other diseases, EDS also comes with comorbid conditions. I personally experience POTS (postural orthostatic tachycardia syndrome), which is a form of dysautonomia: a disorder of the autonomic nervous system. This illness causes my heart rate and blood pressure to go haywire, making me feel faint, dizzy, or nauseated much of the time.

Chiari Malfomation is another rare disease affecting my brain and spinal cord. Chiari is a deformity of the cerebellum causing it to swell into the spinal column and block the natural flow of cerebrospinal fluid. This can cause symptoms such as severe headache, neck pain, dizziness & confusion, issues with balance, fine motor skill problems, and more. Many people with Chiari eventually need surgery to remove part of the base of their skull (a craniectomy) or their lamina (spinal laminectomy) to allow for decompression in their spinal cord and restore the flow of CSF. Mine fortunately isn’t that bad, but one day I may need surgical intervention.

Finally having the answers to these health issues gives me relief and confidence that one day we will find a cure for rare diseases. For now, I aim to have a positive attitude and continue to use my voice to spread awareness and help others have hope.


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