February 28th is the International Rare Awareness Day. People around the world virtually and physically gather together to and show their support to families and patients who are affected by Rare Diseases. On this day, the patients themselves celebrate their rareness and “Love their Rare Disease!”.
Here is some basic data on rare diseases:
- Today there are 7,000-8,000 rare diseases diagnosed
- 95% do not have a cure
- 50% are children
- 30% of these children will never reach the age of 5
So, what can we do? I decided to do my part to help patients and families of these rare diseases. My name is Eleonora and I am a neuroscientist by education and training, now I advocate for rare diseases. As a scientist, I have the unique qualifications to use my knowledge to connect patients, families, researchers, clinicians, healthcare professionals, and society using the social media platforms.
Thanks to friends who are artists and historians, I am able to incorporate the science of rare diseases with the impactful power of art as an awareness strategy. Along this journey, I have connected with wonderful researchers and clinicians as well as amazing patients and moms.
Together we work to raise awareness on rare diseases, share quality scientific knowledge, and support each other. Our group is the Rare Special Powers and I would like to take this opportunity to introduce these special friends who are reshaping our society and changing the world one step at a time. They are a silent army, often put on aside, but their motivation is stronger than the indifference and their love bigger than any selfishness. Please take a moment to welcome them in to your life and you too will see miracles happen. I thank each and every one of them for their help, willingness, and strength.
Facebook @universalmankind @finestrediassisi, Twitter @drpas84ele, Instagram @drpas84ele, Pinterest @drpas84ele
Here are their stories…
Polly. My name is Polly Moyer (UK) and I co-exist with Mal de Debarquement Syndrome (MdDS), which translates as ‘bad disembarkation’ and is usually triggered by exposure to passive motion such as from flights or travelling on water. Although this condition is more common amongst adults, some patients have reported onset during childhood. The main symptoms are a sensation of rocking, bobbing and swaying, often described as ‘the feeling of being on a boat, when you’re not’. I am the co-founder of “Action for MdDS UK” and our main aim is to get the trialed opto-kinetic stimulation protocol made available to patients with MdDS free of charge. I am also really excited by the research being done in the United States, which is exploring how cranial stimulation can be used to treat MdDS.
Polly is also the author of “Healthy approaches to rare conditions”: https://doi.org/10.1136/bmj.i2042
Facebook @MdDS_UK #Together
Pete. My name is Pete (UK) and I am a Complex Regional Pain Syndrome (CRPS) sufferer. My personal experiences with CRPS is that it takes your life, you lose your friends, family, work colleagues because of the Stigma of an INVISIBLE ILLNESS. With an invisible illness, people often assume that since you don’t look sick, you must be fine. People often cannot comprehend what they can’t see. CRPS is the most painful medical condition known to man at a 45/50 on the McGill pain scale, because it is so painful and it is hard to find a good doctor to treat it, CRPS has the grim nickname ‘The Suicide Disease’. CRPS is a disease of the central and autonomic nervous system. I run a group on Facebook called “Big STEPS little feet/CRPS Chronic pain” where I offer knowledge, support, and research to those affected. I have linked up and met some wonderful people on my journey and I hope it may continue. Raising awareness is key, and it is time for change. We have put together an amazing team of people, and with them, 2018 will be a good year! CRPS can be a lonely place, please don’t feel alone come join us. You can also find me on Twitter!
Facebook @Bigstepslittlefeet, Twitter @bigstepsf #YouAreNotAlone
Alan. My name is Alan (UK) and I have established the “Ataxia and Me”, a patient group based in Wales with a global following. ‘Ataxia’ means ‘lack of order’. People with ataxia have problems with movement, balance, and speech. It is a neuro-“degenerative” “life-limiting” condition and has no cure. I am determined to make information, awareness, and knowledge available to patients with all rare diseases together with a support network, which is vital to reduce patient worries and not to not be left alone. Something I am also keen to see change is the “uniformity” of services available to patients with a neurological condition. For example, the services offered to a younger patient seem to cease when they transfer into adulthood. This is a very worrying situation. In Wales our rare disease day Parliamentary reception is on 14th February (Valentine’s day) so it’s fine to “love your rare disease”, we are all in this together! If all of the people with a rare disease would live in one country, it would be the 3rd most populous country in the world.
Facebook @ataxiaandme, Twitter @ataxiaandme, Instagram @ataxiaandme #AlanEveryWhere #pinksocks #WeAreInThisTogether
Sue. My name is Sue (UK, The Netherlands) and I am the chair (and co-founder) of “Pitt Hopkins UK”, a charity that raises awareness on Pitt Hopkins syndrome (PTHS) among health professionals, parents, and society as well as supports both adults and children with PTHS delivering information and funding future research via our social media. PTHS is a neurodevelopmental condition which causes delayed motor development and moderate to severe intellectual disabilities. People with PTHS tend to be either non-verbal or have a limited vocabulary. Constipation, reflux, daytime apnea, and hyperventilation are other symptoms. Management guidelines are being developed under the guidance of Prof. Raoul Hennekam, from The Netherlands, Pitt Hopkins UK will share these as they become ready via our website, social media, and our FREE Pitt Hopkins APP for families…yeah tech and rare disease are working together in support of patients! Download it!
www.pitthopkins.org.uk, Facebook @PittHopkinsUK, Twitter @PittHopkinsUK #PittHopkinsApp
Rachel and Kim. Our names are Rachel (Canada) and Kim (Australia) and we are the chairs of the “ANE International”. ANE International was created in 2016 in hope to bring more awareness to a devastating rare disease named Acute Necrotizing Encephalopathy (ANE). ANE develops and rapidly progressed shortly after a viral infection in children, but also teenagers & adults. ANE can be both genetic and non-genetic. ANE survivors are left with brain injury and neurological disorders such as spasticity, impairments in their motor skills, verbal skills and daily living skills. We, as ANE International, are currently working on our first ANE Awareness Day, which will happen on July 31st, 2018! We are busy working on a family conference that we are hoping will happen in 2020. You can find more about us at:
www.aneinternational.org, https://myunplannedlifeblog.wordpress.com, Facebook @ANEinternatio, Twitter @ANEinternationa
Anne. My name is Anne (Ireland) and I am a founding member and chairperson of the “22q11 Ireland Support Group”, set up in 2007 to support families affected by 22q deletion syndrome (22qDS) and strive for the improvement of services for those affected by this and other rare conditions. I like to network extensively with local, national and international researchers, clinicians, mental healthcare professionals, and parents. It is important to make connections between ‘us and them’ and for us all to work together in partnership. As a rare disease advocate I am dedicated to raising awareness of 22qDS as a poorly understood and under-recognized condition. Our group is involved in research and education, additionally we are joining with healthcare professionals to develop coordinated care for 22q11DS. We created YEEP (Young Expert by Experience Panel), a group of young adults Irish women with 22qDS to look for evidence-based research project to explore their lived experiences of 22qDS. YEEP allows their voices to be heard for the first time and it opened the European 22q Alliance conference with a presentation of this project. I currently work in a voluntary capacity with 22q11 Ireland and live in Dublin, with my daughter Áine aged 34 who was diagnosed with 22qDS aged 15…she is part of the YEEP!
Facebook @22qireland, Twitter @22q11_Ireland #YEEP
Benita. My name is Benita (South Africa) and I am the mother of an incredible young lady who was diagnosed with 22q11.2 deletion syndrome at the age of three and a half. Tessa is now 15 years and still faces many challenges every day. Tessa’s diagnosis changed my life. It made me stronger, stretched my mind, made me more inquisitive, resourceful, it reset my goals and expectations, brought magnificent people into our lives and it shaped the path I am on. Tessa inspires me to be a better person and she inspires those around her to love and forgive unconditionally. Having a diagnosis fulfilled a basic need of being a parent… that is having knowledge about my unique child. I therefore started the “22q11.2 SA Deletion Syndrome Foundation”, to bring knowledge to other parents.
Facebook @22qSAdeletionsyndromefoundation, Instagram @tessacoetsee #TessaInspires
Amanda. My name is Amanda (USA) and I am trained in the law, I hold a Juris Doctorate. I have spent my life as an advocate, however I never planned on the path that my advocacy would take. Nor did I realize how bewildering, confusing, isolating, and difficult this path would become. As a mother of a child with a rare disease, the path we take to being effective and strong advocates for our children is uncharted, there is no guidebook, and there are more failures than successes. For years we had no answer nor direction for our daughter. Getting a diagnosis gave me something to grab onto. In the past year since her diagnosis, I have gained massive strength in the knowledge I have been able to learn about her disorder. This strength has enabled me to target effective advocacy strategies for her to help her overcome some of the more debilitating aspects to her disorder and work with the experts that treat her. This is not always easy to do, because I also am her primary caretaker, and home educator. However, I hope I can help others that go through this “diagnostic odyssey” and I advocate for the larger new “family” of rare disease patients that I share this odyssey with so I recently started a Facebook group: The 22q11.13 duplication.
Twitter @RackerbyAmanda #justamom
Veronica. My name is Veronica (Greece) and I am the mom of Andreas Rares. My son is 4 years old and he was diagnosed with Allan-Herndon-Dudley syndrome (AHDS) also known as MCT8 Deficiency. AHDS is an ultra rare and potentially life-threatening condition that only affects boys and has no cure. Along with other brave parents from all over the world we have created the 1st patient organization for AHDS, the “MCT8-AHDS Foundation”, in order to raise money for research and help AHDS families in dire need. My husband and I have managed to introduce Inclusive Sensory Adapted Cinema Screenings for children with neuro-motor disability in a local cinema; we are working on introducing special needs shopping carts in the local grocery stores, and on finding ways to build an inclusive park in our city. I am also trying to make available in my home country the only medication to decrease the long-term complications of AHDS. So you see, I will not settle for just letting the world know we exist. No, I want us to reshape the world we live in. I will not settle for tolerance. I want us to change behaviors and be included as equals. I will not settle…and neither should you.
Facebook @Andreas_Rares #MoviesForSuperheros
Michelle. My name is Michelle (UK) and I am the Founder and Chair of The “Aarskog Foundation” (AF), a non-profit leading global organization of, and for people living with Aarskog Syndrome (AS) across 24 countries. In 1998 following the birth of my first child born with AS, I was tested positive as carrier. There appeared to be very little information here in the UK or pretty much anywhere in the world, so I became passionately committed to the AF vision: that every person who has, or is caring, or living with AS gets access to much needed healthcare services, to improve life quality. Addressing AS is vital in order for it to be recognized as a short stature disability to ensure all patients have access to the same resources as any other person. The AF creates an Aarskog community and gives a voice through advocacy and exchange experiences. To this end we aim to unite, expand and put AS on the agenda of many institutions both in the UK and across the world. Today, I have become a passionate and committed advocate of Rare Disease and the Foundation is my life’s work.
Marie. My name is Marie (UK) and I am a parent carer. My life entwined with that of my adult son who has always required 24/7 care. In 1987, he was diagnosed with Tuberous Sclerosis Complex (TSC) at 8 months. TSC is a multisystemic disorder that results from heterozygous mutation in either TSC1 or TSC2 genes; it affects with a variable frequency, penetrance, and severity: brain, skin, lung, kidney, and heart. Neurological features include: Epilepsy, autism, and intellectual disability. TSC is the 2nd most common neurocutaneous diseases. In the past 30 years, my husband and I have undertaken various roles in the “UK Tuberous Sclerosis Association” (TSA). My husband is a member of the TSA Research Committee and a Public Representative of Gene Park Wales, while I am currently an Ambassador for the TSA, a Patient Representative for the Wales Rare Disease Implementation Group, and a volunteer for the National Autistic Society. Also, I co-admin a TSC Mums and Dads UK Facebook Group. I am privileged to have an insight into the lives of others sharing a similar journey. As the years advance, the personal experiences of raising a child who is not a young adult, have not only increased naturally but have been diverse. I have seen much change ad improvement in the world of TSC. However, there is still so much more to do and I retain a passionate ambition to help improve the lives of those affected by TSC and other rare disorders.
Twitter @uktsa #TeamTSA #IAMTSC #TSCURE
Emmy. My name is Emmy (UK) and I am the writer behind the blog “Life Without A Label”; the hope is promote and raise awareness with our story on what it is like living day to day with rare disease and also to reach out to other families who, like mine don’t tick all the boxes when it comes to an overall diagnosis, that “magical label”. We are very much living in a round whole medical world, but we are square pegs and that means we just don’t fit! It is the highs and lows of having no diagnosis for boys while our daughter has a super rare diagnosis of Brainstem Migraine with Aura! To be honest I am still finding my feet and my direction from a personal stand point in my advocacy, but I know my heart lies in helping all rare disease and undiagnosed families have their voices heard and most importantly find understanding and support. I also help run the CRPS support group with Pete, I am very proud to be a part of it and we have big plans for 2018! But I’m also “just a mum” trying to support our kids through the “diagnostic odyssey” and learn all we can about our daughter’s condition! To be honest I don’t even have time to think about my physical disability, it may slow me down but it makes me all the more determined!
https://lifewithoutalabel.wordpress.com, Twitter @label_life, Instagram @life.without.a.label #undiagnosed #themagiclabel
Rita Francisco. My name is Rita (Portugal) and I am a Congenital Disorders of Glycosylation (CDG) patient advocate and volunteer at the “Portuguese Association for CDG and Related Metabolic diseases” (APCDG-DMR). APCDG was founded in 2010 and, in 2016 it created CDG & Allies – Professionals and Patient Association International network, an unrivalled infrastructure dedicated to patient-centered research, using CDG as a model community and disease. Currently, I am a PhD student under the scope of this research network, and I am studying immunological function/dysfunction in CDG patients. CDG is the umbrella term for over 130 different rare metabolic disease subtypes. Most patients have a multi-system involvement, but for the great majority of CDG subtypes no targeted treatment exists. To address this and many other challenges, such as lack of awareness, social support, and knowledge, among others, we have been developing a patient-empowerment and capacity model, being patient-centered research one of the main cornerstones of our actions and intents. One of our mottos is: “ If you want to go fast, go alone; if you want to go far, go together”.
Facebook @SindromeCDG @worldCDGawarenessday, Twitter @cdgsindrome @CDG_Portugal #CDGwish
A special thank to Tessa for her painting and Jazz for her drawing, they are two amazing young artists!