Did you know that rare diseases aren’t really rare at all? 1 in 10 Americans has a rare disease! A rare disease or condition is one that is seen in fewer than 200,000 Americans (or 2,000 Europeans). Rare disease is difficult to diagnose, and patients may wait a long time for answers. Even when a diagnosis is reached, most rare diseases are genetic, and have no FDA approved treatment or cure. World Rare Disease Day (the last day of February of each year) is a time for rare disease patients and their loved ones to come together in order to be heard as one group, recognize our commonalities, and advocate and raise awareness together.
My Rare Conditions:
- Ehlers-Danlos Syndromes (EDS) – A group of genetic diseases of the connective tissue that causes widespread instability and pain throughout the body. My type of EDS, Hypermobile EDS (hEDS) is rarely diagnosed, but it is not believed to be rare at all. Although I have it all of my life, my EDS was not diagnosed until two years ago, when I was 28 yrs old. For me, it causes widespread pain and successeptibly to a number of other less rare, but equally difficult illnesses such as Dysautonomia, Functional and Eosonophilic GI conditions, Hip Dysplasia, and Mast Cell Activation Syndrome.
- Hemiplegic Migraine – A rare type of migraine that can either be hereditary (Familial Hemiplegic Migraine) or it can occur spontaneously (Sporadic Hemiplegic Migraine). People with Hemiplegic Migraine experience symptoms such as one-sided numbness and weakness that mimic a stroke. They may experience other prolonged aura symptoms, or have symptoms of meningitis (without the infection). Impaired consciousness and ataxia (decreased muscle coordination) are also common during an attack. People with HM generally also have more classic migraine symptoms such as headpain, nausea/vomiting, and sensitivity to noise and sound. I’m sure as you can imagine, HM can be very scary for patients and loved ones alike.
I also likely have:
- Eosonophilic Esophagitis (EOE) – EOE is a condition in which a high number of particular white blood cells are present in the esophagus (the tube that carries food from your mouth to your stomach), causing inflammation. Symptoms vary, but can include difficulty swallowing, food impaction, nausea, vomiting, and losing weight unintentionally or failure to thrive in babies and children. The condition is more common in males and people with connective tissue disorders. Eosonophilic conditions can impact other parts of the digestive system as well.
I am lucky that while is no cure for Hypermobile Ehlers-Danlos Syndrome, Hemiplegic Migraine, or EOE, they generally are not life threatening conditions, and have some treatment available. Many rare disease patients face an illness that will be life limiting (including Vascular Ehlers-Danlos Syndrome patients), with no treatment available. That is why Rare Disease Day is so important!
There are many ways to get involved, from joining the conversation on social media, to advocating on capitol hill.
- Wear Blue Jeans (or a #Jeans4Genes Ribbon) to show that you care on 2/28/2017
- Find Local Events
- Join the #ShowYourRare Campaign by posting a picture of you with your face painted to Show Your Rare, Show you Care with the hashtags #ShowYourRare of #MyRare
- Join The Rare Action Network (If you are in the US)
- Use hashtags like #WorldRareDiseaseDay #RareDiseaseDay #WRDD18 #CareAboutRare #MyRare #RARE #raredisease #Jeans4Genes and #GlobalGenes on social media
Rare Disease Resources: