Rare Diseases

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"Hi!! I'm Jenn and I received my A.W.A.R.E. necklace to show my zebra stripes for several chronic illnesses. Six big conditions (EDS, POTS, MCAD, Ichthyosis Vulgaris, Raynauds, Sjogrens) and something like 42 total because special snowflake! First big condition is Ehler's Danlos Syndrome. Everyone with EDS has issues resulting from defective collagen. Think of collagen as the glue that holds your body together. When your glue isn't great then everything in your body can malfunction. Subluxations & dislocations of joints (shoulders, ribs, hips, jaw, bones in your ear), stretchy skin, heart and GI problems, blood vessel issues! It’s such a varied illness MANY of us are told it's in our head. I went undiagnosed for 37yrs.
Most EDS patients have other disorders because they're all tied together. POTS is a dysautonomia that can result in passing out when you stand up. MCAD is where your body can treat anything like you're allergic to it. Auto immune conditions bringing up the rear. I have Raynaud's, circulatory issue with my hands and feet, and Sjogren's which affects my entire exocrine system! Makes me a raisin. Awareness is important. I actually figured out 5 of my big 6 diagnoses through @youtube and @instagram Other people shared their journey and I was able to connect the dots. If I can spare someone what I went through then this will all be worth it!
Chronic illness is hard. Everyday. My GI tract has suffered immensely after so many years of no answers. I have dismotility of my esophagus, intestines and gastroparesis of my stomach. I have 2 feeding tubes and a port for infusions. I'm so thankful for the answers I have. But what could it be like now if 20 years ago I would have seen someone wearing a zebra striped necklace and I stopped to ask why....? Hit me up with questions!" @ChronicallyJennKacey


"I am Ashley and I am from Canada. I was diagnosed with idiopathic intracranial hypertension (IIH) in 2018 just a few months after I completed my university degree. IIH is also known as Pseudotumour Cerebri.  Looking back, I am pretty sure that I actually had symptoms of IIH during my final semester of my university degree and it almost prevented me from finishing it. The symptoms of IIH actually mimic that of a brain tumor but no tumor is present. Very severe headaches are the most common symptom. I like to describe the headaches as it feels like your head is trying to give birth to your brain out the back of your neck. It can also feel like your brain is being squeezed really tightly. Spreading awareness about IIH is so important as so many people do not know what the condition is, let alone what I experience daily with this condition. IIH is a chronic invisible illness. I look fine on the outside, but it sometimes doesn’t match how I am feeling on the inside. This necklace will always be a reminder that I must put myself and my health first. I actually make videos on YouTube about my life with IIH. I started making YouTube videos so my family could learn what my life was actually like with IIH as my social media often only shows when I’m feeling good. I quickly have learned that by sharing my story and by sharing what I go through with IIH that I can help others feel like they are not alone." @ashleystuart94


"I choose the Zebra pin as it represents rare/chronic illness, I really want to raise awareness for my condition ehlers danlos syndrome type 3 as it’s been a hard journey to get diagnosed I’ve always had the condition but it was always dismissed as growing pains or hormonal when I was younger until the dislocation started, I saw many doctors, surgeons but they had no answers for me as to why my body was in so much pain from these dislocations & why they would happen daily, until I finally got to see a geneticists who after looking at me & my family history gave me a diagnosis. There has been a lot of blank face’s & remarks of your a ‘special case’ it feels very isolating & I’ve became house bound & this year I started my instagram @meeds_andmyhead page to discover people like me & make some new friends, I also hope by sharing my experience may help someone get help/diagnosis quicker then I did, it’s also helped me get over some pretty dark moments in my life. This year I’ve chosen to have my shoulder fused to stop the dislocations it’s a rare operation here in Newcastle upon Tyne so again I’m that ‘special case’ but if I can share my journey I hope it will bring more awareness of the rare/invisible condition." @meeds_andmyhead


"My name is Lauren Deluca and I am a rare disease advocate. After a life threatening medical emergency was mishandled, I was left suffering untreated with Superior Mesenteric Artery Syndrome. It is a rare disease which causes the duodenum and intestinal track to become clamped shut resulting in debilitating pain and the inability to eat. Rather than receiving compassionate care, I was met with suspicion and accused of drug seeking rather than being treated like a person in need of medical assistance. After being denied care, neglected, and abused, I set off to create the now, "Chronic Illness Advocacy & Awareness Group”, better known as @CIAAGOfficial. Our organization is a place for patients to be able to speak out about the abuses taking place within the medical system due to the so-called opioid crisis. In the course of advocating for myself, I discovered that millions of individuals suffering from rare diseases and incurable conditions were being force tapered off their opioid medications to satisfy the will of the political body, while sacrificing compassion and basic human rights. Through our advocacy, we educate the community and policymakers on the differences between safe, effective use of opioid medications versus the abuse of illicit drugs. In a time where our country is moving toward social acceptance of each others differences, we have created a system that engages in extreme discrimination against the sickest and most vulnerable citizens. I now dedicate my life to helping others and teaching the truth about the changes taking place in our medical system that effect our care, while helping to break the stigma against individuals who need opioid medications to manage their incurable illnesses/conditions. We all deserve compassionate care in our time of need and through our organization, we are changing hearts and minds one person at at time.” @ciaagofficial 


“Our son Owen was born on February 7, 2018 weighing in at nearly 12 pounds and almost 2 feet long. When he was two weeks old he was officially diagnosed with an extremely rare genetic syndrome called Beckwith-Wiedemann Syndrome (BWS). BWS gives children a higher risk of developing childhood cancers. Owen’s risk is 1 in 5 children, or about 25%. It is so rare that most doctors haven’t heard of it and most pediatricians need to google it before taking care of these children. BWS affects every child that is diagnosed with it differently. Not one child is the same, which makes diagnosis and early recognition extremely tricky. Combine that with the fact that little is known about it and you have children who are getting diagnosed very late or not at all. This is concerning because  BWS babies rate of growth is so extreme that if they do get cancer it grows much quicker in them than it would in a non BWS child. For this reason, BWS babies are given ultrasounds and blood draws every three months until the age of 8. Owen was born with an extremely large tongue that never fit in his mouth which he had reduction surgery on at 7 weeks old because it was obstructing his airway. He was also born with a very large belly, hemihypertropy (enlargement or uneven growth of one side of the body), hypoglycemia, and an umbilical hernia.  Owen also sees countless specialists and therapists. Even though BWS babies go through so much they are resilient and are always smiling. Owen is our pride and joy and we wouldn’t change him for the world. Our family has spent the last two months raising awareness for Owen and all the BWS babies out there by starting Larger Than BWS. Larger Than BWS aims to connect BWS families and educate those who have never heard of it. We are hoping that the more awareness that is raised the more children will be diagnosed which ultimately could save them from cancer. Our family is proud to wear these awareness necklaces, yellow for pediatric cancer awareness and is one of the BWS colors, and stripes for rare disease awareness. Together we hope to make BWS known instead of a question!” @largerthanbws 


"You’re never prepared for being the parent of a child with a rare disease. My husband and I thought having twins was going to be our biggest challenge. For 10 months, we lived in beautiful chaos, adjusting to life as a family of 5 and were doing pretty well until our (then) 10 month old son had his first seizure. We were reeling. Seizure medication, epilepsy, AVM. What does this all mean? On May 8, 2013, Silas underwent a neuro-angiogram to determine the cause of his seizures and abnormal blood flow. But after his procedure, the doctor informed us that the test determined Silas actually had Sturge-Weber Syndrome. Sturge what?! We were relieved to have a diagnosis but terrified by what this meant. As we sat in the waiting room, anxious to see our baby, we googled Sturge-Weber Syndrome. We found a link to The Sturge-Weber Foundation and stared at the words “Researchers have discovered the gene mutation that causes Sturge-Weber Syndrome”. Our first glimmer of hope. Two months later, my husband flew to Denver, CO to meet the staff of the Foundation, many other families who had walked in our shoes, and even shake hands with the Dr. Pevsner the man who’s team had discovered the gene mutation. From that point we began advocating, volunteering and getting involved in any way we could. A big initiative of ours was to find a way to raise awareness and money. We are big music lovers and often frequented a local coffee shop/music lesson venue where our children, mostly Silas and his big sister, LOVED the family night karaoke. At the age of 2, Silas would stand on stage and sing along to the Yellow Submarine. On that stage, Rock for a Cure was born. While Sturge-Weber can cause patients to deal with seizures, glaucoma and facial birthmarks that require laser treatment, Silas has only had to deal with seizures to date. We were blessed to have 3.5 years seizure free, though have recently been dealing with new seizures we are trying to get under control. Our hope is that through continued awareness and fundraising, we can make a positive impact on our son’s life as well as the rest of the Sturge-Weber community.“ @rockforacure

Rare Disease

Rare Disease Stories

Rare Disease