Learn more about the project and how to submit your submission here.
Lucille was diagnosed with Eosiniphilic Esophigitis in March 2013 at 17 months. She currently can only drink her amino acid medical food to grow and thrive. She has been trialing different fruits and vegetables since August to no avail. She has not one safe foods yet. We hope and pray that one day we will find one food that will be safe for her to eat so she can be more "normal" and not feel so left out and isolated.
I have a rare genetic disorder called Multiple Endocrine Neoplasia Type 2A. It is an autoimmune disease that causes tumors to grow on my endocrine glands including a rare thyroid cancer called Medullary cancer. My grandmother and mother also have the disorder. I have joint problems and muscle weakness associated with the disorder and I find that I get fatigued quicker than my friends. I get support through the AMEND (Association of Multiple Endocrine Neoplasia Disorders) and the Thyca (Thyroid Cancer Survivor's Association) FB pages and their web sites.
Nicholas and I both have rare diseases. I have intracranial hypertension and Nicholas has a rare brain tumor called hypothalamic harmatoma. But Nicholas does not let that get in the way. He is only in 1st grade, reads on the middle 4th grade level, and is in gifted classes! We couldn't be more proud. We support rare disease day because we know what it's like to live with them. And we would love to find a cure for them all!!
Mark is 1 year old, has infantile spasms, and Epilepsy, and has been diagnosed with West Syndrome. He is delayed, and still is experiencing seizures. But Mark is a joy, and has the most beautiful smile. We hope for recognition, and medical advances so he can have a long, happy, productive life.
NPS employees showing our support for the Handprints Across America initiative. We had the pleasure of hearing fist-hand from two incredibly inspiring rare disease patients on Feb 28.
My name is Christian (Christy), and I am 41 years old and I have Intracranial Hypertension(IIH). My body produces too much CSF and crushes my brain and puts pressure on my optic nerves. On 2/12/2013, I woke up at 2 am with the worst headache imaginable. To date, even with medication; this headache has never gone away. I have lost all of the peripheral vision in my right eye. With the vision problems and medication I am afraid to drive and have not for over six months now. This rare disease keeps me from being the wife, mother, grandmother, daughter, sister, aunt, friend, etc. I so long to be.
I was diagnosed with Stage IV adenoid cystic carcinoma in my nasopharynx in September 2013. I went to Seattle, WA for neutron beam radiotherapy in November and December. I am back in Atlanta, and now I am under the care of Dr. Charles Moore of Emory University Hospital! If it hadn't been for my private patient advocate, Donna Fisher Cummins, doing the research and leading me to Emory, I would not have had the appropriate treatment. People need to be aware of their options for treatment before jumping in to the first one offered, especially if it is a rare disease!
I am a very active person with running, working out and other activities. I was paired with my lovely Lucie through the wonderful people at WhoIRun4.com, which pairs those of us who are blessed to be able to run and pair them with someone who is not able too. Lucie is a beautiful young lady with AHC. I feel blessed everyday that I have Lucie in my life and that I can run for her and dedicate my energy to her. I love the UK and hope to visit one day and possibly meet her in person!
Multiple System Atrophy nonprofits around the country come together to support Fight MSA and Chef Kerry Simon on February 28, 2014, Rare Disease Day, kicking off “MSA March Awareness Month.”
December 2013 our son was diagnosed with Chronic Granulomatous disease. We are currently in first stages of bone marrow transplant process with Cincinati Children's Hospital
Aiden has Eosinophilic Esophagitis. He is 5 years old. He loves books and school. He has had a rough 5 years but he takes it in stride and there are still lots of smiles and fun. He is a great advocate for himself as he shares his story to his friends. He is my little hero.
CADASIL Association at NIH on Rare Disease Day.
Anne McGuinness, President, Barbara Hunt, Vice President,and Janice Ragazzo, Associate Trustee.
Connexion Healthcare is a communications partner that understands the nuances and complexities of rare diseases. Our goals are to broaden the understanding of these natural diseases, while ensuring access to innovative therapies for an underserved patient population. On February 28, Rare Disease Day, Connexion Healthcare provided a free luncheon for employees. The guest speaker was Lisa Clarke of New Jersey,
the mom of Charlie, who has cystic fibrosis, or CF.
We support Rare Disease Day because our son Elliott has a rare genetic disorder called DICER1 Syndrome. This disorder can cause many issues with the human body. Because of this disorder he has had Type 1 PPB (lung cancer) and bilateral cystic nephroma as well as a recurrence of it. Elliott was diagnosed with cystic nephroma when he was 9 months old and eventually diagnosed with DICER1 and PPB at 1. He has had his left kidney removed, part of his right kidney removed (twice) and a cyst in his lungs. He has been through a lot but that has not stopped him from being a happy two year old boy.
I'm holding the sign for Rare Disease Day. My husband was diagnosed with Corticobasil Ganglionic Degeneration (CBGD),a form of PSP, in January 2012. With the help of another therapist we made tags with the curePSP and Rare Disease Day logos with green and blue ribbon and passed them out to all the therapists at Holy Cross Hospital with information on PSP and Rare Disease Day. My co-workers have been a great support to me and my family and we all pray one day there will be a cure - because hope matters.
Harry is battling Familial Hemiplegic Migraine. My son & I are raising our hands with him in support of him and this very difficult fight against this rare, debilitating disease that most doctors know nothing about.
This is TK and he has Greig Cephalpolysyndactyly Syndrome. He was diagnosed when he was 25 weeks gestation. TK is a happy 2 1/2 year old who has delays in all areas of development. Though he may not walk or talk he has managed to capture the love of all by his infectious smile!
Congressman Garland Pierce and NC State Senator Gene McLaurin gather with others for Rare Disease Candlelight Vigil in support of Rare Disease Day and in honor of Tristan who was born with Jeune's Syndrome and died from complications of it.
Kindergarten Students at I.Ellis Johnson celebrating Rare Disease Day
In 2006, I was diagnosed with Aggressive Fibromatosis, also know as Desmoid Tumors in my low back/flank. Desmoids are a rare form of soft tissue tumors that only 2-4 out of a million people are diagnosed with annually. (Learn more at www.dtrf.org) So far, I've had 3 tumors surgically removed, had 33 rounds IMRT radiation, 3 rounds CyberKnife radiation and currently have a 4th tumor. There is currently no cure for Desmoids. I truly appreciate the efforts of Rare Disease Day to help raise awareness for so many rare diseases!
Proud Fire Captain Daddy to our 5 year old daughter, Chloe, who has Sturge-Weber Syndrome. ❤️❤️❤️
Khale fights a battle against multiple rare diseases. He is in bone marrow failure from Shwachman-Diamond Syndrome. This is a systematic disease which affects almost every body system of his in some way. He has a feeding tube and is homebound to due a compromised immune system. He also suffers from a rare genetic disease causing bone deformities. Doctors are still working daily to fully diagnose him.
My name is Kristin and I'm battling Cushing's Disease. My four year old son Jackson was born with a rare disease called systemic mastocytosis. Together we both are fighting two different rare diseases.
Maddie has neuropathic chronic intestinal pseudo-obstruction. Fayetteville, AR.
Anna is a 7 year old with Muckle Wells Syndrome.
I have Complex Regional Pain Syndrome. There is no cure, but prompt diagnosis and intensive physical rehabilitation may bring about remission. Many care providers aren't familiar with this diagnosis, and many insurance plans require patients to fail multiple nerve blocks before they will cover more expensive, but much more effective forms of treatment. This lack of awareness and access to appropriate care is why many patients with CRPS progress to a chronic and highly debilitating form of the disorder. I support Rare Disease Day because awareness is the key to improving the lives of people with CRPS.
The members of the Top Side Aviation Club in Washington, DC are happy and excited to learn about NORD's initiative and we pledge to spread the word about the Rare Disease Day. We hope each person affected by an awful illness sees their suffering disappear as new cures are developed. We also send smiles, positive thoughts and urge you not to lose hope. One day, may you become doctors, nurses, Reiki Masters... wherever your ambition takes you. May those who care and advocate for you never tire, and to all you youngsters across the nation, BE STRONG!
This is the best photo I could get of my little guy! Collin was diagnosed with Neurofibromatosis in early December 2013 at 19 months of age. Right now the only "issues" he has are the little Cafe au Lait spots that initially made us concerned and decided to seek diagnosis. We hope that this is the extent of his NF, but we just have to "wait and see." Since December, I have seen first hand what an amazing community the NF community is. I have learned of what horrible things NF can do to kids and adults, like tumor growth that can cause blindness, amputations and cancer. Scary stuff.
Maximus is a 4 year old from DeQuincy, La who is living with a condition known as Methylmalonic Acidemia Mut-. He is the life and inspiration of his entire family. He is very small and is connected to his feeding pump via Jtube. MMA Mut- causes Maximus' body to not make something called COA mutase. Because of this, his body only partially breaks down protein. When his body tries to break it down, it stops short of finishing the process and this causes methylmalonic acids to build up and begin to poison him. There is no cure. Maximus Trenton Daynjer has his own FB page devoted supporting him.
I fight to create awareness about Huntington's Disease and found these lovely ladies to fight with us.
Fulton County Schools Superintendent , Dr. Robert Avossa, Senator John Albers and City of a Milton Mayor Joe Lockwood came to Andre's class to celebrate Rare Disease Day with him and his classmates.
Andre celebrated Rare Disease Day in his classroom with Fulton County Schools Superintendent, Dr. Robert Avossa, Senator John Albers and Milton City Mayor Joe Lockwood. The Milton Herald newspaper was also there covering the event.
I'm Kelly and I have classical Ehlers Danlos Syndrome. I want to raise awareness for everyone that fights and gets told on a daily basis "but you don't look sick." Having to justify how you're feeling only makes the fight harder, it doesn't make the pain any less. I'm so thankful for all of the support that I have in my life. Here's to raising awareness for everyone that fights against a lack of knowledge and treatment options!
Callum was diagnosed with Langerhans cell histiocytosis a few weeks after he was born. We started chemotherapy and steroids when he was just two months old. We are incredibly lucky to live near doctors who were able to quickly identify and begin treating this rare disease. Our hope is that Rare Disease Day can help get the word out about LCH and the search for a cure. Callum's prognosis is good and his attitude is incredible. His dad tells him that the scars and treatments are just giving him his superpowers, so for each treatment, we dress him in a superhero 'uniform'. Today, he is Batman.
I support Rare Disease Day because my husband inherited Alports Disease as a baby. He experiences mild hearing loss, mild loss of eye sight & complete kidney failure. He is 29 years old, on dialysis and in search of a kidney transplant. He is my Superman.. And my hero. I can't imagine a day without him and want to do everything I can to help him share his story, inspire others and ultimately, find him a kidney match.
Ethan was diagnosed with Glutaric Acidemia Type 1 via NBS. Thanks to early detection, fantastic doctors, proper treatment and therapy he is a very happy and active 2 year old. His cousins are helping to raise awareness in their high school. Here's a picture of the Ringgold High School students who participated by wearing jeans for genes and blue jean ribbons. Ethan is in the middle being held by his oldest cousin, Zack.
Angela Larson and Friends
I've suffered migraines since I was a teen. For the last four years they have turned for the worst, and I have been diagnosed with Hemiplegic Migraines. I'm a mother of three, and it's not easy to take care of busy kids and of the house. These migraines are not as common, and present all the characteristics of a stroke or a TIA. It's very scary, and it has taken a toll on my life. I cant' work, go to the beach, or take a sun bath. I'm always wondering what will I be able to do today? That is simply horrible. Plus, I even black out, have speech problems and problems moving. It has affected my family too.
At 1 & 1/2 weeks Julie was diagnosed with Alpha-1 Anti Trypsin Deficiency. She gets regular bloodwork done and an ultrasound of the liver once a year. This can affect her lungs and/or liver. Not many people know that they have this until 20's-20's and they start having complications with their lungs and/or liver. She is now 4 years old and loves gymnastics and likes to read!
These three kids are on a youth bowling league with Rare diseases and on Friday night their parents bowl. We got everyone together to take a picture on Rare Disease Day since we are all together to bowl with the kids. This league and the youth league tomorrow are just one big family. Everyone came together to help out with this for the kids. Fort Lewis Youth Bowling league and Fort Lewis Friday Night Mix!
I still remember that day when my parents came home crying out because doctors said my sister, Kathy, probably had cancer. After lots of research, doctors found out that she has Schwannomatosis: a rare genetic disorder. At the moment she had 20 surgeries and most of them happened on her spinal column. For our family Kathy is our hero and our INSPIRATION! We still don´t understand why God chose our family for this life experience, but what we are sure about is that one day will find a cure, that can help all people suffering of this condition.
My 10 year old daughter, Daphne, has Neurofibromatosis Type 1 (NF), and Moyamoya Disease. NF is a genetic disorder that causes tumor growth on various types of nerves, and Moyamoya disease is a rare, progressive cerebrovascular disorder involving blocked arteries at the base of the brain, and formation of tiny blood vessels that resemble a "puff of smoke". Despite the many health challenges she has faced, Daphne finds joy in each day, and shares it with all who know her.
Hannah has defied many odds. Her birth is a miracle. Born with severe osteogenesis imperfecta (brittle bones). To date she has sustained over 126 bone fractures throughout her body.........but look at that smile. It brightens any room. Our FAITH IN GOD has carried us far. HE remains our constant source of strength.
Zane was diagnosed with the severe food allergy FPIES ( Food Protein Induced Enterocolitis Syndrome) when he was 6 months old. Now at 27 months old, he thrives on 10 safe foods and elemental formula.
My Mother has PSP. After years on misdiagnosis my Mother & our family were so happy that she was finally diagnosed. Little did we know that this disease has no cure, no treatment & is one of the most cruelest diseases out there. My Mother is a fighter, she has been living with this for over 7 years. She is bedridden, can't speak, can't eat, drink, see, is fully dependent on others. What hasn't been robbed from her is a hearing skills. She can hear very well & understands. She just is unable to respond back these days. But she keeps fighting because Hope Matters.
Taylor is 11 months old and was diagnosed at 5 months with Pseudohypoaldosteronism Type 2 (PHA2). PHA2 affects the way her kidneys process potassium. She will be on medication and a low potassium diet for life. The PHA2 also caused damage to her heart from uncontrolled hypertension. Through the Internet, we have met another family with PHA2. Taylor is definitely a rare and special little girl.
Congratulations and Thanks for the support on Rare Disease Day!
Amy Nash Touchet, 33yo, passed yesterday after battling a rare, agressive, neuroendocrine gastric cancer for the last 7 months. She is the mother of two young children, Noah 5 and Ashlyn 3. She is loved and will be missed by her husband and companion, Paul, her parents, siblings, friends and patients. Amy was an OT for Santa Clara County Childrens Services for the past 10 years. She loved her work with children of all ages, many suffering from rare diseases. Her patients loved her so much!! She has left an indelible mark on our hearts forever. Infinite love, infinite strength. RU Amy Strong!!!
Christian, diagnosed with Atypical HUS at 3 months of age and on daily dialysis for 18 years, celebrates Rare Disease Day with his Archbishop Hannan High Sr classmates.
We support Rare Disease Day because we have seen directly that these diseases can be conquered. Christian is currently on the kidney transplant list - something he could not do 2 years ago - because of a breakthrough drug called Soliris. Once Christian receives a kidney transplant, he can live a near-perfectly healthful life.
We hope raising awareness helps create this same outcome for all affected by rare disease!
As a company focused on the development and commercialization of novel therapeutics to treat debilitating rare diseases, Aegerion is proud to join hands with the communities across the world to celebrate Rare Disease Day and to raise awareness for rare diseases, especially for people and families affected with Homozygous Familial Hypercholesterolemia (HoFH).
BioMarin’s U.S. MPS Sales team “raised their hands” to support our patients with Rare Diseases!
I have atypical Hemolytic Uremic Syndrome (AHUS), and the University of Oklahoma school of drama has supported me and my husband throughout the last eight years since we moved to Oklahoma. When my husband, Matthew, gave me a kidney on March 7th, 2013, OU covered his classes and made us feel supported and loved. My students in the School of Drama mean so much to me, and they volunteered to be a part of this picture because they know how much it means to me. We celebrated by wearing zebra ribbons, by eating Little Debbie Zebra Snack Cakes, and by making our own stylized version of the "Handprint." BOOMER!!
Brandon was diagnosed with NF at 6months old. He has 5 tumors near his brain and had a bone deformity in his left leg. He underwent 4 surgeries to try to correct the bone in his left leg but his leg never healed. His 5th & final surgery was amputation below the knee. He is now running, playing and climbing right along all the other kids. The tumors in his brain haven't affected him yet but he will have yearly check ups to make sure they don't grow and cause him any problems. Brandon is my NF hero & I hope one day a cure is found for NF.
Hands in Japan supporting Rare Disease Day internationally
BioMarin's Commercial Group works hard to help patients prescribed BioMarin therapies have access to them. Rare Disease Day is an opportunity for us to join others supporting patients and their caregivers!
BioMarin reaches out to friends and families of current and future patients to celebrate and support Rare Disease Day! Pictured above are members of BioMarin’s Research and Drug Discovery department that are committed to rare disease and dedicate themselves to the development of lifesaving therapeutics. Rare disease treatment is a passion for BioMarin. We are proud to show our support of this important day!
BioMarin’s Research and Drug Discovery department derives passion from patients in need, and shares the hope for a cure. Being rare does not mean being alone. The journey starts with awareness and support. BioMarin is part of your team. We thank the brave academic scholars, dedicated clinicians, and passionate family members for championing the research in rare diseases that focuses ideas into medicinal hope.
BioMarin’s Pompe Syndrome clinical research development leadership team gathers to recognize and thank the patients and their families who volunteered part of their lives to help the rest of the Pompe community.
BioMarin’s Morquio Syndrome clinical research development leadership team gathers to recognize and thank the patients and their families who volunteered part of their lives to help the rest of the Morquio community.
BioMarin's Achondroplasia Clinical Operations Team is dedicated to improving the lives of patients and families. We are proud to participate in NORD's Handprints Across America campaign!
BioMarin's Oncology Clinical Sciences team passionately supports patients with Rare Diseases and their families by conducting quality clinical trials with a novel therapy that targets specific molecular defects in tumors with the hope of providing meaningful advancement in the care and quality of life for these patients. We are dedicated and committed to addressing the unmet medical need in patients with cancer.
BioMarin’s Regulatory Affairs and Pharmacovigilance teams are reaching out to show our support! We’re dedicated to fighting rare diseases one approval at a time!
In the Human Resources department at BioMarin, we focus on our people who are making a big difference for patients with rare genetic diseases. Rare Disease Day is an important day at BioMarin because we get to spend time with patients who inspire us to deliver therapies when there are few if any drug therapies available.
BioMarin's Cellular and Molecular Biology (CMoB) Group supports those with Rare Diseases by focusing our creative and technical expertise on conceiving and testing innovative therapeutic concepts that provide the foundation for new treatments for patients.
We show our support for those affected by rare diseases and their caregivers while working hard to develop breakthrough medicine in the Cell Culture Process Development Department of BioMarin Pharmaceutical.
At BioMarin, we strive to develop breakthrough treatments for patients around the world suffering from rare genetic diseases through great science and great teamwork. The Development Sciences Project Management team is honored to be able to help patients, their families and caregivers. It is a privilege to be a part of Handprints Across America!
As part of Rare Disease Day, CDM Princeton will be raising awareness through internal activities and outreach to selected clients. Employees have been invited to raise awareness about the rare diseases affecting their lives and those they care about by listing those diseases as part of an awareness wall. Employees will also participate in a fundraiser for NORD and a group photograph. This outreach is part of CDM Princeton’s focus on providing special care and dedication for all stakeholders involved in the care and treatment of people with rare or complex conditions.
“We support the people and the care givers of the rare diseases by maintaining computer systems for development and manufacturing of relevant medicines by BioMarin Pharmaceutical.
Hi! My name's stephanie and I support rare disease day in memory of my daddy, brother and sister. All three of them have passed away from Neurofibromatosis type two. My brother and dad in January and May '07 respectively and my sister in February '11. They live on in our memories and hearts daily and I hope someday that cures are found not only for NF but for every other rare disase and disorder out there so the suffering can end! My love for them will never end and I support this day and wear my believe tee shirt in memory of them and everyone else who has been lost.
Sophie was diagnosed with Erythema Multiforme, a rare reaction, after she was given penicillin for an ear infection as a toddler. She nearly died in the process, and still must approach issues of infection risk with great caution as there is no treatment for this diagnosis. She is one of Southeastern Wisconsin's true Rare Disease Day supporters!
Charlie was diagnosed with Hemophilia A - Severe, rare bleeding disorder, the day after he was born. He is one of Southeastern Wisconsin's true Rare Disease Day supporters!
Lexi is a teenage advocate for people with bleeding disorders and autoimmune disorders. As a sister of 2 siblings with rare disorders, and a friend to others who have a variety of rare diagnoses, Lexi is one of Southeastern Wisconsin's true Rare Disease Day supporters!
The Translational Genomics Research Institute is a non-profit research institute located in Phoenix, AZ. TGen's Center for Rare Childhood Disorders (C4RCD) applies the latest tools of genomic medicine to provide answers for parents wanting to identify the disease or disorder affecting their child.
This photo shows some of the research team including staff scientists and bioinformaticians. We are excited to show our support for Rare Disease Day!
Visit www.c4rcd.org to find out more.
Betsy and Lily say Happy Rare Disease Day in honor of Betsy's two-legged daughter, who has Epidermolysis Bullosa.
Our 2-year old daughter was diagnosed with eosinophilic esophagitis 6 months ago. Despite having only 3 safe foods, she enjoys cooking in her play kitchen!
Patients, families, caregivers and Dr. Drake from the Soft Bones and HPP (hypophosphatasia) community at their patient education meeting in California.
See the odd zebra? The cute lanky one with spots instead of stripes? That's me. It took more than four decades from symptom onset to diagnosis.
The list: Hemiplegic Migraine, Chiari Malformation, thoracic Syringomyelia, Tethered Spinal Cord Syndrome, and underlying it all, Ehlers-Danlos Syndrome.
When I'm wearing my NHB (Normal Human Being) disguise, I look like any woman. You'd never guess that there's anything wrong. That's why I support Rare Disease Day.
Help us fit in even as we stand out.
The Williams Syndrome Association raises their hands to honor Rare Disease Day!
My wife of many years, Robin recently passed at age 56 from PSP disease which she had for 6yrs. She was unable to walk, swallow, or speak much at the end stage. However, Robin remained strong and accepting of her eventual fate. She is now with God forever. She was a mother who was very kind and special in so many ways. As with many shown here, and recognized on Rare Disease Day 2014, we are grateful for the laughter and special memories we share.
When I was nine months old I was diagnosed with Neurofibromatosis. I try not to let the disease define me and know that God allowed me to have disease for a reason. Going through the things that I have especially with the way I was treated by others in school has allowed me to look past others' imperfections and see the person inside. Through the years I have learned that beauty is so much more than skin deep.
This is Liam. He just turned 2 and we are supporting Rare Disease Day because he has Hydrocephalus/ Dandy Walker.
Diagnosed with Sporadic Hemiplegic Migraines.
Nolan Val Kostiha, 7 months old, diagnosed with Congenital Disorder of Glycosylation Type 1A. Gordon ISD, Nolan's dad's hometown and employer purchased Rare Disease Day shirts and wore blue in honor of Nolan "NoKo".
I was born with Neurofibromatosis (type 2). I have been battling the disease all my life including losing my hearing and left side facial function at 21. However, I don't let a day go by that it stops me from having dreams and fulfilling them. When people ask about my disease, some can't even pronounce it and most have never heard of it, but it gives the opportunity to raise awareness for a cure. Yes, I have a rare disease but that only means I'm unique. Why fit in when you were born to stand out?! 🙂
I am a 50 year old survivor of a rare orphan disease called Sarcoidosis. I was initially diagnosed in 2006 when I had a large mass removed from my lungs. I am Stage 3 with this disease in my lungs, bone marrow, liver, hips, and spine. I have been to specialists and have bern treated with steroids and chemo. This disease affects me every single day. I am a paralegal by day and a singer/songriter playing in a band on the weekends. There are times I have no air to sing, and this terrifies me. I do not let the disease win, though. Everyday I try my best to give back, to make a difference and to survive!
Eli 8 yrs old 2nd grade Rosamond Elem school, Riverton UT is a great supporter of rare disease research. He gave a $5 donation from his piggy bank to American MedChem Nonprofit Corp (americanmedchem.org) toward kids rare disease research. BRAVO!!!
Robert Owenby is our 4 year old NF hero. Robert is an amazing young man. Our family is so blessed to be touched by Robert's strength and courage as he battles NF each day. Please take a moment today and learn and share about Children's Tumor Foundation and NF, a rare disorder that causes tumors to grow through out the body. #run4robert #CTF #NORD #rarediseaseday #EndNF
Olivia was diagnosed with Mastocytosis at about 6 months old. At the age of 4 she has embraced her "polka dots."
Holly, is the first in our family with NF1. The first time we heard of Neurofibromatosis was at her 6 month old well child exam. I pointed out to the Public Health nurse here in rural Alaska that even though I had moles, Holly had all these spots. She said those were actually café au late spots and could be a sign of neurological problem. Holly has since been diagnosed with Neurofibromatosis Type 1 which causes tumors to grow anywhere on the body. One of the hardest thing about Neurofibromatosis is not knowing what symptoms are NF related or not.
Aleaha, 11 years old, has a 50% chance of having CADASIL. I have CADASiL and I had passed the gene to my daughter and now my beautiful granddaughter has the 50% chance of this dreadful disease.
Darrius has a 50% chance of having CADASIL, as his mother has the rare disease and his grandfather does.
NORD's Associate Director of Public Policy, Paul Melmeyer at the Utah State House.
Isabel and Patricia, both with Maroteaux - Lamy Syndrome (MPS VI)
Dr. Harmatz and team at Children's Hospital at Oakland celebrate Rare Disease Day.
Patricia and Sami, MPS VI patients & Michelle Spooner of BioMarin raise their hands in honor of Rare Disease Day.
At 1 1/2 Logan was diagnosed with a Primary Immunodeficiency Disorder called XLA. He has had IVIG treatments once a month since then. He is 3 1/2 years old now. He is so brave and patient when going through his treatments, which take anywhere from 2 to 4 hours. Today's appointment lasted 4 hours, and here he is with a smile. I am so thankful that he was diagnosed early, even though they were not looking for this or even suspected this was what was wrong with him. If he had been diagnosed when born it would have prevented some spin-off medical issues that will affect him for the rest of his life.
Alice is 2 years old and has Food Protein Induced Enterocolitis (FPIES). I support Rare Disease Day because it brings awareness to diseases such as FPIES that may not receive a lot of attention because they are so rare.
I support Rare Disease Day because my almost 3 year old daughter has Neurofibromatosis (NF1). Each day she greets with a smile, and I (along with her family) will do what we can to spread awareness and help find a cure/treatment. The frustrating thing about NF1 is its unpredictability, we have no idea how Ella will be affected in the future. So far she is dealing with speech and motor issues, but her main challenge is tibia dysplasia in her left leg. She wears a brace to protect it and unfortunately has to avoid doing quite a few things kids her age normally do to prevent her leg from breaking. Love you Ella.
Gabriella was diagnosed at age 3 with Langerhans Cell Histiocystosis. Histiocytosis is a rare blood disorder that affects 3-5 people per million. It can attack bones, organs, and skin. The disease started in her illiac crest and grew into her hip and ate away all the bone. Before her 4th birthday a tumor was found in her sphenoid bone that grew into her pituatary causing Diabetes Insipidus. At this time she underwent 15 months of chemotherapy, steriods, and treatment with methotrexate which worked wonders. At 10 she is now happy, healthy, and extremely active. DI is the only lasting side effect.
My son has Mastocytosis, an abnormal accumulation of mast cells which may occur in any tissue of his body. Upon exposure to a particular trigger these mast cells break down with the release of histamine. The triggers can range from food, temperature change, anxiety, strong odors, to chemicals, or preservatives. The results are flushing, hives, abdominal pain, vomiting, diarrhea, extreme tiredness, joint pain, the sudden onset of cold symptoms, and anaphylaxis. His reactions are very delayed and can even hit without a known cause. Our safety is in always being prepared.
I have parry romberg syndrome and complex regional pain syndrome and this doctor has been amazing this is only 2 of my diseases that are rare but I now have 6 chronic pain diseases and he has been amazing and so supportive.
Dylan was born with a rare syndrome called WAGR-11p deletion syndrome
Sun Lakes Arizona United Methodist Church raises hands across America for rare diseases. Mia, the little girl second from left on front row has rare hematalogic anemia and Barbara, last confront row has SPS
NORD's Alexander Freitas at a Rare Disease Day awareness event at Rabobank.
Maryland State Delegate Anthony O'Donnell and his staff. We extend our sincere thanks to the Delegate for introducing Lily's Law, an expansion of the Maryland State Newborn Screening program to include several new rare lysosomal storage diseases.
CMA is a Public High School in Durham, NC. We are medically focused high school that works to help students understand the medical system, health/wellness and disease process. I am Registered Nurse who teaches at CMA. I was diagnosed with TracheoBronchial Malasia in October, 2013 which has made me curious about diseases that impact so few in the world.
Students had all 330 students and faculty in our school cut out their handprints and we made a poster to match the Logo.
Dakotah was diagnosed at 1 with Multiple Hereditary Exostoses (MHE) which is a rare medical condition in which multiple bony spurs or lumps develop on the bones. She underwent surgery in June of 2011 to have a tumor removed off her left ulna and an external fixator put in to lengthen her arm. In December of 2011 she was able to have the fixator removed. In July of 2013 she had another fixator put in to again lengthen her arm. It was removed in December of 2013. Dakotah just had her 6th Birthday yesterday and is excited to be apart of Rare Disease Day!
Senator Montgomery, her staff, and Jason of NORD's research grant program raise their hands in honor of Rare Disease Day at the Maryland state House Event.
Advocates in Oklahoma who raised awareness at the State House for Rare Disease Day raise their hands.
I have Parry Romberg Syndrome and complex regional pain syndrome I have been hoping that going through all my medical issues I can make a difference for someone else this is a picture of myself and my parents and one of my sisters.
Isabel and her classmates in CA rally together to celebrate Rare Disease Day.
I would like to extend a sincere appreciation and thanks to my colleagues – the public health servants and pharmacy leadership team, for their support and participation in the RDD 2014 Blue Denim Genes Ribbon initiative. Featured in the photo is my department, proudly sporting their Blue Ribbons, a symbol and reminder of our commitment to the provision of quality care. We strive to be a model of excellence and expand our mission of caring to the rare disease community. Thanks, again to my team who values all patients and has assumed such a critical role in the provision of access to beneficial treatments
I was diagnosed with Stiff Persons Disease after a 4 year search in 1995.No one could diagnose me even the 101 doctors in the hospital where I was an RN doing what I loved most. It changed my life completely from giving care to needing care,losing my independence in the prime of my life. The words no cure, and no research make the treatment a trial and error over the years. To explain it simply ,it is living in full body "Charlie Horse" 24 hours a day. I walk some but Jazzy is my legs.It affects every muscle in your body! Life is a challenge I won't give up! My family makes it worth every step.
Last year my son Daniel was diagnosed with Eosinophilic esophagitis which is white blood cells (eosinophils) present in the esophagus that causes inflammation and damage to the esophagus. Daniel is always smiling and has a positive attitude even when things don't look up, always saying "it could be worse". And yes it could be worse and we are grateful to have family and friends that love and support us.
Members of Bayer HealthCare celebrate Rare Disease Day and raise their hands in solidarity of the rare disease community.
Russell Teagarden, NORD Senior Vice President of Medical and Scientific Affairs, and Amy Waterhouse, Senior Advisor, Regulatory Affairs for BioMarin Pharmaceutical Inc, raise their hands for Rare Disease Day.
As Ambassador for the Central Tx. Region, I had Guillain-Barre Syndrome, a virus that attacks the immune system causing temporary paralysis. Hospitalized a year and being 1 out of 7 in the world with the most severe case, I have become involved in helping others and being a strong advocate for rare diseases. I am also an Author today. Our Texas group organized our first rally at the Tx. State Capitol and organizing it again for next year. We work with our community doing fundraising.for treatments and research. Join us on our FB page: Rare Disease Day Texas 2014 how you can get involved too.
Kate has ectodermal dysplasia. The disorder effects her teeth, skin, nails, and respiratory system.
Taylor is 2 years old and has FPIES: Food Protein Induced Enterocolitis Syndrome.
I am Joseph and I have Histiocytosis. It is a rare blood disease that I have lived with my entire life. We support Rare Disease Day because my disease is rare and it is important to get the word out and raise awareness. Hopefully by raising awareness my doctors can find a cure. I am lucky to have support from my family, friends, doctors, nurses, and teachers who are pictured here with me.
My friend/co-worker Noelle and her husband have a special son named Oliver. He has been diagnosed with xeroderma pigmentosum (where the skin's ability to repair damage caused by ultraviolet light is deficient) and eosinophilic esophagitis (an allergic inflammatory condition of the esophagus). It's a one-in-a-million combination of rare diseases, yet he is a one-in-a-million personality kid who is special in every way. I'm grateful to know Ollie and his wonderful spirit.
My Mom has Scleroderma, Sjogrens, Raynauds, CREST syndrome, Systemic Sclerosis, Discoid Lupus, Erythmia Nodosum, MS and many other reare diseases. She has been in 4 different hospitals since October of 2013 because no one seems to understand or help her with all of these diseases. She is now in her 2nd rehab center trying to gain strength in her legs that have shrunken so badly from her Scleroderma that it makes walking for her not only difficult ..but painful as well. Because of her Raynauds disease, they have to put the pulse ox on her ear as they can not get a reading. Help find a cure please.
The Children's Tumor Foundation is a not-for-profit organization dedicated to finding effective treatments for the millions of people worldwide living with neurofibromatosis (NF), a term for three distinct disorders: NF1, NF2, and schwannomatosis. NF can cause tumors to grow on nerves throughout the body and may lead to blindness, bone abnormalities, cancer, deafness, disfigurement, learning disabilities, and excruciating and disabling pain. NF affects one in every 3,000 people, more than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. For more information: www.ctf.org.
Natalia was diagnosed with Ideopathic Mutli Centric Osteolysis ( IMO/Vanishing Bone Disease). There are currently less than 100 known cases of IMO in the world. The disese presents joint contractures, arthritic like conditions, and chronic pain. Natalia is in a research program at the Center for Metabolic Bone Disease and Molecular Research at Shriners Children’s Hospital for Kids St. Louis. She is an active Patient Amassador for the Chicago and St. Louis Hospitals. Natalia is hopefull that one day Dr. Whyte and his staff can “… find a cure to make her bones strong so she can race her brother.”
IIH- Intracranial Hypertension
My daughter has been a medical mystery, she has been to the National Institute if Health in Bethesda Maryland, thank to the help of the NFED, they have become our family and a great support. It has been 5 years since our visit to the undiagnosed disease program, but we still hold hope .
After years of suffering from arthritis, dysautonomia and many other painful symptoms I was diagnosed with Ehlers-Danlos Syndrome at the age of 18. Despite being bedridden for most of middle and high school I was able to improve enough to attend college at the University of North Carolina. In 2015 I will graduate with a degree in nursing so that I can use my career to promote awareness and understanding of rare diseases. To those of you who have also been affected by any kind of rare disease, keep fighting and stay strong! Things will only continue to improve as we learn more about these uncommon illnesses.
Avery was born with Peter's Anomaly, which affects development of the eyes, and includes glaucoma and cloudy corneas. She was blind at birth and required many surgeries to give her any functional sight. The success of the surgeries in infants and young children isn't high, and we hope more research is done to improve this. She has had 14 eye surgeries, including 7 cornea transplants. Today, although Avery is considered legally blind, she has functional sight and does extremely well, but Peter's Anomaly has no "cure" and the health of her eyes is very vulnerable. She's our little fighter!
My son Nate was born in May of 2011 with Pseudohypoaldosteronsim, type 1, MTOD. It took a few weeks, and some random magic (which I am forever grateful for) that he was even diagnosed before we lost him. The first few months of his life were spent in two separate level III NICUs. He's had a rough start in life, but he's one amazing, strong, sweet little boy - and I'm so proud to be mama to my limited edition peanut!
Alistair has x-linked Chronic Granulomatous Disorder (CGD), a life threatening primary immune deficiency. Ali takes lots of medications to prevent infections, has frequent hospitalizations, and lots of restrictions--no mulch,soil, standing water, fresh cut grass, leaves, no swimming in oceans, rivers, ponds or streams, and lots of special hygeine precautions. He is a sweet, silly, generous and love-filled 6 year old who rocks the world of everyone he meets. We love this rare and special little boy!
The Cutaneous Lymphoma Foundation is a patient advocacy foundation supporting every person affected by cutaneous lymphoma by promoting awareness and education, advancing patient care, and facilitating research. We're excited to participate in Rare Disease Day and raise awareness of this rare form of cancer.
Baking a Difference ~ supporting Rare Disease Awareness Week at Acalanes High School in Lafayette, California with this gift of handprint cookies.
Jonathan was diagnosed with an ultra rare disease, Atypical Hemolytic Uremic Syndrome, in 1993. He is now 21, and despite being on dialysis and enduring many years of this disease, he still loves life and thrives.
Lydia Jo was born completely blind in 2006 with Congenital Glaucoma. It affects .05% of babies in the US and is a lifelong disease. This disease is incurable though somewhat controllable. Lydia has undergone 10 surgeries, w/ 1 being laser and 2 being Ahmed Valve Implants, 1 ea eye. She has been put under anesthesia more times in her 8 years of life than I could keep track of. She will always be on eye drops. I can happily say that Lydia can see with her right eye now and we pray to keep it that way. We support Rare Disease Day because Lydia and I care about all of us.
My name is Michelle and 4 years ago I developed the rare disease- Opsolconus Myoclonus Syndrome (OMS), which affects 1 in 10 million in children. I have the adult-onset form which led to 2 long years of no treatment and searching for answers. Finally after getting a diagnosis and fighting insurance companies for treatment approval, I have many more good days than bad. I support rare disease day so less people suffer & more research is done on rare diseases. There is no cure for OMS, but with currently weekly IVIG treatments I can have excellent days where I return to my passion of skiing in Colorado!
My grandson and my sister both have a rare disease called Trigeminal Neuralgia.This disease has no cure and very little awareness so we started a support page to let other sufferers know they are not alone, and to raise awareness.
Thomas Moffett was diagnosed with Multiple System Atrophy (MSA), a progressive neurodegenerative disorder characterized by a combination of symptoms that lead to autonomic nervous system failure and motor control (movement) dysfunction. The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. There is no remission from the disease and there are currently no cures. In the USA, 30,000 people suffer from MSA.
NORD's Tai Spargo and television personality Patricia Richardson "raised their hands" for rare diseases while conduct TV interviews for Rare Disease Day
Russell Teagarden, Senior Vice President of Medical and Scientific Affairs at NORD, and Janet Woodcock, M.D., Director, Center for Drug Evaluation and Research at FDA, raise their hands for Rare Disease Day.
September 2009 I clinically suffered a stroke. After I kept having stroke like sympthoms I was finally diagnosed in 2011 with Hemiplegic Migraines. This is a real rare disease that one moment you can be normal and the next you loose your left side, face falls and you can't talk. At the age of 40 I was told I can not work due to this disease. I got three young kids and at times can not even tell them I love them.Hemiplegic Migraine Disease is a real and rare disease
Laurel Hill First Baptist Church members of Laurel Hill, NC, took pictures in Handprints Across America to support Rare Disease Day.
Lauren turned 5 last February 8. She was diagnosed with Greig's Syndrome a few days after she was born.
She has worked hard and is very determined in conquering the challenges that Greig's Syndrome gives to her. She has motor, speech delays and seizures. Rare Disease Day has inspired us in raising awareness which we have started with Lauren's big brother Matthew. I believe that awareness leads to acceptance, support, compassion and love to all of those who has to live their lives with a Rare Disease. These are the things that will make Lauren's future brighter.
On October 1, 2012, at 16 1/2 months old, Bailey was diagnosed with Neuroblastoma AND an extremely rare neurological autoimmune disorder called Opsoclonus Myoclonus Syndrome. OMS affects 1 in 10 million children under the age of 5 & occurs when the child's immune system gets confused while attacking a Neuroblastoma (tumor) & also attacks their brain. Bailey is 2 1/2 now & currently still on treatment, but doing well. She & her big sister Hannah, 4 1/2, are the best of friends as well as each others support system.
Employees of The Bank of Maine Calais Banking Center are helping to promote awareness of Rare Disease Day by handing out ribbons on February 28th. We have many members of our community living with different rare diseases. Some of them we know their stories others live their lives never speaking of their disease.
This is Brennan, our wonderful baby boy with a gentle disposition and the sweetest smile. Brennan was born August 7, 2013 and passed away January 23, 2014, just under 6 months of age. He was diagnosed with Atypical Teratoid Rhabdoid Tumor (AT/RT), a rare and highly malignant brain cancer. Only about 30 cases are diagnosed in the US each year. Research funds are limited for pediatric cancers and AT/RT is still not fully understood. Brennan is dearly missed, but we hope his story sheds light on yet another rare disease!
My name is Amanda and I am 17 years old and I have Intracranial Hypertension. My body produces too much CSF crushing my brain and putting pressure on my optic nerves. My body is fighting the invisible tumor it thinks I have in my brain. I have had MRI’s, CT’s, lumbar punctures, labs, and multiple prescription drugs that seem to do more harm then help. I have an LP shunt that helps relief some of the pressure and a month after I had the surgery my shunt broke so I had to have another surgery and put a new LP shunt. Even after surgery I still get the really bad headaches.
I support Rare Disease Day because my son Gabriel was diagnosed with Schwartz Jampel when he was 3. My son passed away February 4,2013 and he was only 4. This is a way for me to keep him alive and help and support families everywhere.
In 2012, I was diagnosed with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), and Transverse Myelitis (TM). CIDP occurs 1 in 100,000 people, and TM only occurs in 1 per million. Both disorders are autoimmune in nature - CIDP affects my peripheral nerves, and TM affects my spinal cord. In the beginning, I was paralyzed from the waist down. Through intensive physical therapy, I relearned to walk, but it is a daily struggle. I also receive monthly infusions of IvIg to keep my immune system from attacking itself. I support Rare Disease Day because I am a fighter!
Megan lives with multiple rare diseases including mitochondrial disease, dysautonomia, ehlers-danlos syndrome, gastroparesis, and more. Everyday there is something to battle but she does it with a smile and a positive attitude and tries to support and inspire others through her Facebook page Healing Hopefully. Life is now about enjoying the small things and embracing the good days.
Ayla has Epidermolysis Bullosa (EB), which is a rare genetic skin disorder that causes the skin to be so fragile that the slightest friction can cause severe blistering--inside and outside the body. Ayla has a mild form called EB Simplex, meaning her blisters are not widespread or internal. Children with EB are often referred to as "Butterfly Children" because their skin is as fragile as a butterfly's wing. There are children who suffer with blisters/wounds that can cover up to 75% of their fragile bodies... agonizing pain that many of us could never imagine.
My daughter Esmé has a rare genetic form of epilepsy known as PCDH19 Female Limited Epilepsy (FLE) that causes drug-resistant clustering seizures and a range of developmental delays. She is one of approximately 200 known cases world-wide. Esmé has extremely low tone, severe physical delay, and speech apraxia in addition to her seizures. It took us two years to find her diagnosis (and she may yet have another disorder too). Having such a rare disorder has meant that finding community and medical research has been difficult, so we make our own hope with our foundation The Cute Syndrome Foundation
I am Anissa and I have Neuromlyeitis Optica, which affects my spinal cord and optic nerves. I was diagnosed at the age of 19 in December of 2012. I started showing symptoms when I was 17 years old (now 20.) It took 2 1/2 years for them to diagnose me. I could remember being seen by 20 different doctors and still had no clue until I had a relapse in December 2012. With this disease I have had three eye prescriptions and over 10 relapses. I am now in Nursing School for my Bachelors in Science of Nursing. We all have one unique thing about us and that is WE ARE FIGHTERS!!
While I live in California, I am in Alaska to run the 1000-mile Iditarod Sled Dog Race which starts the day after Rare Disease Day. This photo was taken during today's training run, February 24th. My goal is to get the Rare Disease Day banner I held on the summit of Mt. Everest in 2010, across the finish of the Last Great Race, in Nome Alaska. After going for more than 14 years undiagnosed, I goal became: spread the word about rare disease resources (NORD). I was diagnosed with Wegener's granulomatosis in 2007.
I'm from Greensboro, NC and I have hypoparathyroidism and thoracic endometriosis.
Xavier and Ronan are brothers living with Food Protein Induced Enterocolitis Syndrome (FPIES), a rare allergic reaction in the gastrointestinal system. Finding safe foods is a challenge, but we are blessed by a fantastic support system and a strong FPIES community!
Spencer was born in Dec 2012 and has Pediatric Mastocytosis. His solitary mastocytoma is on his left jawline along with other spots on his body. We are proud to celebrate rare disease day and help bring awareness to this orphan disease. Spencer is wearing his rare disease day shirt and his big brother is holding up the handprints across America sign. We live on the east coast of Canada.
My son Max has Idiopathic Intracranial Hypertension. His body produces too much CSF crushing his brain and putting pressure on his optic nerves. His body is fighting the invisible tumor it thinks he has in his brain. He has had MRI’s, CT’s, lumbar punctures, labs, and multiple prescription drugs that seem to do as much harm as help. My husband and I and our four children will be wearing shirts we made for Rare Disease Day to raise more awareness of these diseases that have no cure!
Christopher is 9 years old, he was diagnosed with Hyperinsulinemia at 7 months of age. When he was originally diagnosed at Children's hospital in Boston we didn't know any one with this disease. We now have a great network of supportive families who are able to give advice and support to each other. We are no longer alone. Christopher is now doing great and we were able to wean him off his medications last year.
ND Rare Diseases is a newly founded non-profit organization with a mission to connect North Dakotans who have a rare disease or disorder with resources. Pictured are several planning members of the non-profit who show their support for Rare Disease Day 2014.
Johnathon was born normal then received varicella vaccine resulting in Landau-Kleffner Syndrome, a rare seizure disorder affecting speech. He actually went to school with another boy in same class with the same syndrome. There are less than 200 people who suffer from this syndrome.
Katrina has Kabuki Syndrome with Scimitar Syndrome. Both are rare. She was born prematurely and has had over 40 surgeries. I was told she may not live and if she did, she may jot walk, talk, or eat. She/we have been blessed as she is able to do all. She met a boy with the same syndrome who lives over 800 miles away. We take turns visiting each others families.
My husband Michael was diagnosed over 7 years ago with Pompe. He spent 4 1/2 years in assorted hospitals. He was lucky enough to get involved with clinical drug trials and was also the first patient to receive a diaphragmatic pacemaker. It is his spirit and those whom he surrounds himself with that has enabled to get as far as he has, even with this dreaded disease.
I have Parry Romberg Syndrome. I was diagnosed at the Mayo clinic last year, even though I have had symptoms since I was 18 (now 27). Even after my face started going in, it still took forever to get a diagnosis, because most doctors had NO idea what was going on. I am on tough meds (which cause a lot of side effects) to try and stop the progression from going in & causing more side effects. There is no cure and no known course of action. I know that we all understand this too well...to feel unknown is not a good feeling! I always try my best to KEEP SMILING & ENJOY LIVING LIFE! We ARE one in a million!
Hunter (2 years old) has a very rare, still unnamed form of spondylometaphyseal displaysia (SMD). The three most "common" forms of this genetic disorder have only a 1 in 1,000,000 occurrence rate. Complications of SMD include lifelong joint and skeletal issues, particularly of the spine, and short stature. The cast Hunter is seen wearing is to help correct his infantile scoliosis, which is typical with SMD but is another rare condition on its own.
Julia has EE, asthma, food allergies, and eczema.Though Julia has had EE her entire life, she was not diagnosed until 2012. She had her first endoscopy in 2001 because of multiple GI issues. At the time we were told that the biopsies did not show anything, evidently they weren't looking for eosinophils. When Julia was diagnosed with EE, her doctors, Dr. Furuta & Dr. Fliesher, looked back at the biopsies from 2001 and did find eosinophils. We have been able to manage Julia's EE with Beudesonide and eliminating additional foods from her diet. She currently avoids peanuts, tree nuts, eggs, wheat, & shellfish.
Ethan was born with Bartter syndrome, believed to be one in a million in USA. Here is his class, his teacher and principal of North Road school supporting Ethan and everyone who is suffering just like our son from rare incurable disease. Ethan and rest of us raising our hands for you. We are not Alone. EthansCure.org
In 2012, Billy was diagnosed with Langerhans Histiocytosis. During his year of Chemo Therapy, he continued to play hockey and remain active. We are thankful for the support of Billy's hockey team through Billy's ups and downs. Our hope is for more awareness and research for all rare disease's.
I have ocular toxoplasmosis which impacts the vision in my left eye. My sister shared this opportunity with me and together we are posting our pictures to help support others who are dealing with rare conditions.
I have had migraines since I was 15 years old. I became a sufferer of Sporadic Hemiplegic Migraines in 2004. I wasn't diagnosed until 2008. In this picture I have my head shaved for my stepfather who had cancer. But with my disease, I have stroke like symptoms and they can be triggered by almost anything at anytime. Over the past 4 years I have come to the point of not being able to work a regular job and I am fighting for disability. I am trying to get a business of my own Irish Serpent Eclectic started, doing hand done glass etching and chainmaille jewelry. I also paint and do photography.
This is my mom Terri Lynn Welling she has Lambert Eaton Syndrome, Dysautonomia P.O.T.S and Autonomic Neuropathy. When she first heard that Rare Disease Day was in need of help to spread the word Mom jumped right on the band wagon and started making phone calls and writing letters. She was successful in her endeavors and received a proclamation from our Governor for the State of Maryland. She has faced this rare disease and disorders with courage and attempts to do whatever she can to spread the word that more needs to be done not only for herself but from everyone that is facing a rare disease.
The Staff of Chiesi Pharmaceuticals Inc. applauds the Handprints Across America 2014 project, and sends its best wishes in the hopes that your initiative receives deserved attention. While our Research and Development department works hard for medicinal breakthroughs, we offer those affected by rare diseases and their caregivers our heartfelt support.
Jackson was a healthy, normal little boy, developing right on track, when at 14 months he had his first myoclonic seizure. Our world was turned upside down when our sweet, adorable little boy was having 20-40 seizures a day which eventually turned into 50-70. His seizures changed and he started having drop or atonic seizures. He was diagnosed with Lennox-Gastaut Syndrome in August 2012. He fights seizures daily, is very delayed, cannot speak and has sensory seeking issues. Despite all this he is our world, our perfect little boy! It is our mission to raise awareness about seizures and epilepsy.
In 2006 I was diagnosed with Primary Billary Cirrosis which took some time to understand and I changed my life and did well managing this disease. Then in May 2013 I was suddenly hospitalized and diagnosed with Pulminary Arterial Hypertension and Scleroderma which drastically changed my life. I still have not adjusted but with amazing family support it is starting to get easier.
I was diagnosed at 17 with Antithrombin 3 Deficiency (a blood clotting disorder). When I was taken to the hospital, they discovered I had hundreds of blood clots resulting in PE's and a massive DVT in my left leg. The doctors and nurses did not expect me to survive the night much less the next week. Last week I turned 24 and have graduated from college despite the challenges that come along with living with a rare disease.
Elijah was born healthy and happy and developed normally until he was 4 years old when he was diagnosed with Late Infantile Batten disease. It took almost a year of slowly losing his abilities to walk, talk, eat and almost daily seizures to get the diagnosis. The disease occurs in an estimated 2 to 4 of every 100,000 births in the United States, but there is no cure.
In 1974 I was diagnosed with Retinitis pigmentosa / ushersyndrom commonly called RP and is a disease of the eye that leads to loss of vision and blindness. I have little vision left now, but I get around with help from family.
Back in 1991, Dr. Jerry Fleishman and Dr. David Buchholtz in Baltimore, Md diagnosed me with Complicated Complex Migraine Syndrome, which is now called Hemiplegic Migraine with aura. According to ORDR, symptoms vary but may include visual disturbance, sensory loss, difficulty with speech, weakness on one side of the body, confusion, and impaired consciousness. When people hear the word "Migraine" they naturally think "oh a bad headache, it's more on the lines of a stroke. I very seldom have a headache during an attack. Weather, smell, food and noise can trigger attacks leaving you bed ridden for days.
Our son Ethan is a boy made out of love and laughter. Arriving one June with sparkling blue eyes and cornsilk hair, every one of us adored him instantly and beginning at four months he graced us with the heartiest belly laughs we’d ever heard. At ten months, our hearts shattered when he was diagnosed with Tay-Sachs Disease, and a mere nine months later, on February 15, 2014, here we stand at his memorial service holding his picture and his sisters, showing our support for Rare Disease Day. Together we are not rare – together we are strong!
They smile and they laugh.
They run and they play.
They cry and ask for Mommy and kiss makes it all better.
They whisper secrets and sing along to their favorite song.
They like ice cream and their favorite food is spaghetti.
They're not any different from other children other than that they have a rare disease.
May your family keep faith, never lose hope and love each other a little more.
Raise your hands and raise awareness for Rare Disease Day.
Cassandra Quintos, diagnosed with NOMID almost 3 years ago.
Written by CQ aunt, Shiela Hizon
On October 15, 2013, we learned that our 10 month old daughter, Annabel, has Tay-Sachs Disease, a genetic neurological disorder which causes progressive loss of abilities and eventually death, usually before the age of 4. We do not fit the typical ethnic profile and were never counseled on prenatal genetic testing and the possibility of being carriers for this terrible disease. We cherish every moment we have with our precious girl and strive only for her comfort and happiness during her short time with us.
30 million people in America have a rare disease. 15,000 people worldwide have Friedreich's Ataxia. I am one of them. I keep moving on my recumbent trike, to fight disease progression. Not only can cycling help keep me healthy, but I ride to inspire others to stay as active as possible. Alone we are rare. Together we are strong. Take the unbeaten path. #MoveYOURway for Rare Disease Day February 28, 2014 with me! www.curefa.org
Laken is a 4.5 year old boy who has a gastrointestinal disease called Eosinophilic Gastritis. Eosinophilic Gastritis is a rare disease in which a type of white blood cell, the eosinophil, causes injury and inflammation to the stomach. [APFED]. Along with GERD, he is also allergic to wheat, dairy, eggs, soy, and peanuts. He has no idea he has a rare disease and thinks he's a superhero- so do we!
Ethan is battling Bartter syndrome,rare kidney disorder. He was born with it, but he was misdiagnosed for the first 4 years. We nearly lost him twice. His kidneys wasting potassium with other important electrolytes. Ethan suffers with over 25 symptoms.. Ethan is great warrior, and a sweet heart boy. It's difficult to live with rare disease ,especially without any support or understanding or right treatment. Ethan's friends would never guess,that he is seriously sick , because he looks normal to them. So good to have this day,so we can all get together and send a hug to each other. We love you guys.
I'm Tambra I've been suffering from dercums disease type II since 2011! I have painful growths growing throughout my body attaching to my nerves. I'm wheelchair bound and use a cane sometimes. There is no cure, no real treatment except comfort care. This disease has taken my body over. I fight everyday just to stay pain free.(www.healthfiend.com/top10 most painful diseases) dercums disease is the 4th most painful disease. I'm thankful for Dr.Karen Herbst whose research is the only thing helping this disease. I fight for my life and others like me!
U.R. Our Hope is a non-profit organization that assists individuals and families with undiagnosed and rare disorders. We are based in Austin, Texas but our outreach is throughout the United States as well as Canada, Great Britain, and Australia.
Participants at NORD's regional PNH patient meeting in Orlando, FL
I was diagnosed with Common Variable Immune Deficiency (CVID) at age five. CVID affects about one in every 25,000 people, making it one of the most "common" (ironic name!) of the otherwise rare Primary Immune Deficiency Diseases. My CVID is complicated by a high anti-IgA titer, meaning that I risk anaphylaxis when given blood or blood products. Nonetheless I have received IVIG treatment successfully for 30 years. Rare diseases also affect others in my family, including my sister (Chiari Malformation) and my father-in-law (Pulmonary Fibrosis). I took this picture during my monthly IVIG infusion.
Hi, my name is Anabelle and I am 3 years old. I have a rare chromosome disorder called 15q11.2 microdeletion. This has left me with many other complications, including epilepsy, being nonverbal, and intellectually and globally delayed. My mommy always tells me she wouldn't change me for the world but she will change the world for me.
Natalie and her service dog, Cassius
I was diagnosed with a birth defect at 34. I now have understanding of all of the difficulties I grew up with and many that are still coming along. Living with a medical mystery all your life only to find there is no cure could have been devastating. I refuse to let it be, however future generations can be spared this difficult situation with research and funding. Let's make many of our Rare Diseases instead Extinct Diseases!
My name is Christina Gaylor. I am 35 yrs old. In 2001 I was diagnosed with FAP and rectal cancer. I had emergency surgery and had my entire colon removed. I had j pouch surgery. Then in 2008 I was diagnosed with a desmoid tumor. I had surgery to try to remove the tumor but it was wrapping around my mesentric artery. Instead they decided my Gaul bladder needed to be removed. I started chemo. In 2009 I was diagnosed with chronic pancreatitis, had to be on a feeding tube for 6 months. I did 4 types of chemo. My tumor is about 45% smaller now and now I'm just monitoring it.
I'm soon to be 50 years old and two years ago I was diagnosed with Late Onset Tay-Sachs Disease. A very rare form of a disease that normally affects infants and children. It's been a tough battle, but I'm fighting it as best I can.
Shayne suffers from a rare disease called fibrous dysphasia . Her cousin Kaitlin is helping Shayne show her support for all people who suffer from a rare disease.
After two years of struggles our little man was diagnosed with Polymicrogyria. His brain did not form typically during development in the womb. Having a diagnosis has helped us immensely. We understand more and know what to look out for in the future. Knowledge truly is power! It helps us tailor his therapies and make decisions about his care so hopefully he will have a better future. He is a sweet little boy and his smile is infectious!
My daughter Angela Lynn Hagerman was born November 5, 1976. At her 6 weeks check up, the doctor noticed that she hadn't gained much weight, and her length was the same as birth. He sent her to an area hospital, and they referred us to James Whitcomb Riley Hospital for Children in Indianapolis, IN. The diagnosis was Cushing's Syndrome. A benign, hyperplasia tumor was removed from the Left Adrenal Gland; however, March 11, 1977, Angela succumbed to the disease. An Autopsy showed the right adrenal gland had developed tumorous, also. The Docs had never seen bilateral, Adrenal tumors.
Connor is 8 years old and has PKU. He is pictured here with his third grade classmates and teacher. We decided to submit this photo because Connor's school has done a tremendous job in helping us manage his PKU at school so he can focus on learning, playing and making new friends. We are blessed that Connor's PKU is treatable and hope Rare Disease Day raises awareness for other children living with rare diseases that may not be as lucky.
Health science high school students sponsored a walk to raise money for rare disease day.
This year, CADASIL Together We Have Hope Non-Profit will be talking with the student on February 28, 2014 about rare diseases.
I was inspired to quilt a banner featuring the Rare Disease Day logo, the Cure PSP ribbon and a photo of my parents. My mother, Joan Cullen, died at the age of 72 in 1999, after having lived with PSP for approximately 7 years. My father, Jack Cullen, was her devoted caregiver, along with my brother, two sisters and myself.
She was a vibrant woman who loved to play bridge, bake, and travel before she was ravaged by the symptoms of PSP. Speech became difficult and the last thing I heard her say (a week before she died) was the Lord's Prayer.
Let's Cure PSP now so no one else has to suffer!
Karlos has many birth defects one including spondylocostal dysosotosis, jarcho Levin syndrome, congenital scoliosis, pectus excavatum, right aortic arch, mirror image branching, vascular ring, reactive airway disease, thoracic insufficiency syndrome and a few others they are working on diagnosing.
My name is Carmen C., I am 49 years old and I have Hermansky Pudlak Syndrome . I have some Pulmonary fibrosis but for now I am stable. For me, long transplant nigth not be an option due to the number of antibodies I have because multiple blood and platelets transfusions. As part of the rare disease community I want to encourage research and funding for rare diseases ! I want a cure!
The Cystinosis Research Network Executive Committee at a recent board meeting, work hard every day to address the needs of the Cystinosis community. Since 1996, CRN has strived to raise awareness, educate, support families, and fund promising research projects that offer improved treatments and a higher quality of life for those living with a rare genetic disease called cystinosis. Cystinosis affects 500 people in the United States and 2000 people worldwide.
Jenna, 6 years old, Eosinophilic Gastroenteritis: a rare disease of the gastrointestinal tract characterized by crampy abdominal pain, nausea, vomiting, diarrhea, gastrointestinal bleeding, and weight loss.
My life & my family's life has been turned upside down from my constant & agonizing pain of central pain syndrome, CPS secondary to an AVM (Arteriovenous Malformation) hemorrhage & surgery.
My son was diagnosed with Guillian Burre Syndrome in Dec 2012. He received the IVIG treatment for 4 days and went through 6 months of physical therapy. Today he is in great health! But we will never forget the scary time where we didn't know what was happening. It took 7 doctors to figure out what was wrong! If more people knew about this disease he could have been treated faster!
My mother died in 2011 from Broncholitis Obliterans Organizing Pneumonia after dealing with the disease for 10 years, since then I have dedicated my life to raising awareness for rare disease.
I have CAPS (NOMID). I was diagnosed in 2011 at the age of 20. Since starting Anakinra my life has changed tremendously 🙂
I was diagnosed in 2011 with aggressive fibromatosis(desmoid tumor). I had surgery where they removed about 3/4 of my tumor and have been treating this disease with alternative medicine and major changes in my lifestyle since. I have been truly blessed to have lots of support from my family and friends.
Eden was diagnosed at 20 months old with eosinophilic esophagitis, a disease which we still know so little about. Now two and a half, Eden's main symptoms are dysphagia (difficulty swallowing) and severe eczema outbreaks. She can't eat foods containing eggs, wheat or nuts, and it seems the list of allergens is continually growing. The only way to monitor the condition is through regular endoscopes with biopsies.
My adopted son had Leigh's Diseases and passed in August 2010 at age 14. I have since continued Bubba's journey by continuing to raise awareness to Mitochondrial Dysfunction/Disease and continue to learn about as many rare diseases as possible. Also supporting many of my friends when they need to have a listening ear. Even accompanying them to hospital for moral support. I was a part of raising Rare Disease Day Us awareness in Louisiana, getting a proclamation from the Governor Bobby Jindal.
Neleh Kate has Food Protein Induced Entercolitis Syndrome (FPIES), along with IgE and immune mediated allergies. She is left with less than 20 safe foods at the age of 4. We are blessed with wonderful doctors and a great support system from friends and family.
Cole has epidermolysis Bullosa and Dyskeratosis and Cornelia de Lange syndrome! 3 rare diseases and his birthday in February 28 2009, which is also international rare disease day. He is trying to help raise awareness for his conditions as there is very little research and no local organizations involved.
Jocelyn has atypical Cryopyrin Associated Periodic Syndrome. She is the toughest 6 year old I know. She rarely complains and always has a positive outlook. She is simply AMAZING!
Our daughter Becca has CMTC and we are gearing up to celebrate Rare Disease with her preschool class and sharing the message with the entire school with our entire family wearing Rare Disease Day shirts.
This is Ahuva in her "rare" shirt. Ahuva has Mast Cell Activation Syndrome and reacts to many, many things including most foods (some even airborne), preservatives, plastics, many meds, environmental triggers etc. We have a FB page called Minis with Masto to help connect with others like her. We need a cure !
Staff from the International Pemphigus & Pemphigoid Foundation (IPPF) are proud to participate in Rare Disease Day. The IPPF is dedicated to improving the quality of life of all people diagnosed with, or affected by, Pemphigus or Pemphigoid (P/P). P/P are rare autoimmune blistering diseases which affect the skin and/or mucous membranes.
I am coping moment-by-moment with the relentless, unimaginable and incurable agony of Central Pain Syndrome secondary to a thalamic (deep brain) Cavernous Malformation bleed & surgical resection. Cavernous Malformations are a vascular malformation, AKA cavernous angiomas & cavernomas.
Central Pain Syndrome is poorly understood & unknown among many medical communities, as well as the general public.
Advocacy, awareness and research are the basis of my hope.
My son Ethan has an Arachnoid Cyst pressing on his brain stem. He was diagnosed at age 3 but told that his cyst would never grow. We were told to have an MRI at age 8. We went to a different doctor this time and found out his cyst had grown by 30%. Two weeks later my son was having brain surgery. After surgery we found out that my son's cyst had almost grown back to the same size it was. Right now Ethan's Arachnoid Cyst is stable. I started a foundation due to the frustration and lack of research and information to help him and kids like him. Pediatric Arachnoid Cyst Foundation, www.pediatriccyst.org.
We support Rare Disease Day because we were our mom's 24-7 caregivers, for three years, while she suffered from Paraneoplastic Cerebellar Degeneration (PCD). This autoimmune response to cancer (Ovarian, in our mom's case), took away here ability to speak, walk, stand, swallow, and see clearly while her body fought tremors every moment. After winning an essay contest and holding a school fundraiser, we sent a videotape and funds to the Mayo Clinic, a foundation was created in her name, and a team of researchers began to study PCD (which was eventually moved TO the list of rare diseases). For mom, with love.
Skylar was recently diagnosed with familial mediterranean fevers, he's been suffering with pain since he was born. None of his pediatricians would take time to find out why he continued to get so sick, after being hospitalized and meeting with a doctor who was genuinely eager to help he did genetic tests that confirm he has Familial Mediterranean Fever as well as an unknown mutated gene on marker 16, causes and effects unknown.
Follow our journey at Facebook.com/fmfgeneskylar.
was diagnosed with refractory Crohn's Disease in 2011 after living with pretty constant stomach pain for years. Doctors never suspected Crohn's Disease because my symptoms didn't fit what they expected they should be. Since then I have been diagnosed with Ehlers Danlos Syndrome and Chiari Malformation. I believe in spite of this that I can and will still have a great life! Endurance Leads To Glory!
My name is Steve Schleuder. I am 26 years old and was diagnosed at 18 months of age with Infantile Nephropathic Cystinosis, a metabolic, genetic disease that affects about 500 people in the United States. Symptoms of Cystinosis in the first few years of life are severe failure to thrive, dehydration, electrolyte abnormalities, and renal failure. I had a successful kidney transplant in 1999 at age 11. I still take 50 plus pills everyday to manage symptoms, but live life too. I will graduate college on April 27th, 2014.
I suffered for years with pain being sick, tired, and no one would listen. I even had a doctor tell me it was all in my head.
After years of fighting, testing, and more bills than money We moved a small town in central Illinois. There the beginning of my hope started. I have 5 rare disorders. My doc calls me his walking pee-tree dish.
I support NORD and Rare disease day because no-one wants to listen when you try to explain why you can't do, or can't pay for. I would love to exchange bodies with the U.S. Senate for a couple days. Bet we would get all sorts of funding for research then.
Happy to bring my PKU story (PAH deficiency) to NIH Rare Disease Day and engage governmental partners and research experts with the advocacy community. I welcome the opportunity to bring awareness and lend my support to those who make orphan treatments possible. Dietary treatment saved my life and my children’s’ lives, thanks to many PKU pioneers and rare disease heroes who strive, persevere and demonstrate political courage. Proud to bring an international voice to RDD by uniting members of the European Society for PKU and Allied Disorders Treated as Phenylketonuria and making RDD a global celebration!
Ian is 8 years old & has been diagnosed with Pitt Hopkins Syndrome (PTHS). Less than 300 people have been diagnosed with PTHS world-wide. We think there are probably many undiagnosed people out there, as the genetic testing to detect PTHS has only been available since 2007. PTHS children are typically happy and very social. PTHS is characterized by developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures and intellectual disability.
I'm 38 years old and 12 years ago I got diagnosed with Aggressive Fibromatosis (Desmoid Tumors). There is no cure for this type of "localized" cancer. There is about 2-4 cases per million a year. I have done 3 types of chemo and have had 11 surgeries on my right leg (from knee to hip). My goal is to educate as many people as possible about this rare disease.I am a fighter and will not loose this battle. God is my strength.
I was diagnosed in 2005 with Mycosis Fungoides, a cutaneous T-cell lymphoma. MF is incurable and often fatal. My chances of getting it were 1 in 400,000. My doctors all agreed that there was one specialist in New York that I should see. My insurance company said no. They sent me instead to a specialist in another state. Two hours on the train to get there, two hours back. I'm lucky my disease was caught early. I started treatments 3 times a week. I went into remission. It came back. I'm now back down to 1 treatment a week. Probably for the rest of my life. The specialists at NYU saved my life.
Kenzie has a 19q duplication. She seems to have the largest duplication of all the documented cases but also seems to be the least affected. Some minor health issues and significant developmental delays are the obstacles we have faced so far. There is not much documentation on what we can expect for her future since she seems to have surpassed all documented milestones so far. To us that makes her blessed and her potential development limitless. These accomplishments did not come without struggle and future ones will not either. Everywhere she goes she touches peoples hearts and puts smiles on faces.
McKayla was diagnosed with a rare liver disease know as Primary Sclerosing Cholangitis or P.S.C. in Dec 2012 at the age of 12.
I am a polio survivor, living with Post Polio Sequelae. Post-polio sequelae (PPS) is a syndrome that affects some people who have had polio (poliomyelitis), which occurs after recovery from the initial infection. Characterized by the development of progressive weakness in muscles that were affected by the original polio infection. In addition, those affected may experience extreme fatigue and joint pain. Skeletal deformities, such as scoliosis, may occur and other symptoms. The severity of symptoms vary. In severe cases, symptoms mimic the rare disorder known as Lou Gehrig's disease.
Our group suffers from a brain disorder. A principal symptom of Mal de Debarquement Syndrome is a constant sensation of rocking motion, like on a boat. Cognitive impairment is another. There are no treatments. Two of my friends got theirs from a cruise. I got mine from a flight... 6 yrs ago. Many do not know their trigger. Since 2011 we've run awareness walks in Denver, CO. My friends are all wearing their MdDS Walk t-shirts but I am proudly wearing my Rare Disease handprints t-shirt.
Dave F. at work in the studio of WBUR Boston. I am a radio news anchor at WBUR, Boston's NPR News Station. After overcoming prostate cancer I began having double vision. Tests revealed a tumor in the base of my skull. Surgery at Tufts Medical Center in Boston in July 2011 removed most of the tumor which a biopsy concluded was Chordoma. Following surgery I underwent Proton Beam Radiation from October 2011 to December 2011 at Mass General Hospital.... So far...so good 🙂
This photo was taken at the Fibromuscular Dysplasia Society of Americas 2013 Annual Meeting just for Rare Disease Day 2014. As rare disease patients we find support and comfort in being able to get together and meet others who understand exactly what your going through. Many life long friendships have been formed at our annual meeting, it really is a life changing event.
Barbara: “You can’t live a perfect day until you do something for someone who will never be able to repay you.” ― John Wooden
Theresa F. from Wisconsin is living with Klippel-Feil Syndrome and advocating for this Rare Disease - make the unknown known. Supporting rare diseases and the Klippel-Feil Syndrome Alliance. Research, increased knowledge and dissemination of knowledge for both the medical professionals and patients as well as care and treatment plans and pain medications from birth through adulthood are needed.
Our daughter Elana has a rare disease called Primary Ciliary Dyskenisia (PCD). This ravenous disease affects the lungs, sinuses, ears, and reproductive system. Less than 400 people are diagnosed with this disease. During Elana’s first 4 years of life, we took her to 6 hospitals in 3 states. She saw over 25 different doctors. At 4 she was diagnosed with PCD. Elana is now 10 and has had over 20 different surgeries. She will require various surgeries throughout her life. Elana’s days are filled with inhalers, breathing treatments, sinus rinses, chest physical therapy and a steady stream of antibiotics.
NORD’S staff is proud to support Rare Disease Day and serve as the US sponsor of the day.