HUman of rare Diseases
This is Your Space
This collaborative effort features people in the rare disease space: patients, advocates, researchers and healthcare professionals alike. We have encouraged them to share their stories and offer readers a window into their lives. Enjoy and share!
"My [...] rare disease [is] abetalipoproteinemia. [...] My limitations are due to debilitating fatigue and pain. I am homebound most days, and unable to drive and work. I hope one day they will find a treatment or cure so that I can somewhat live a normal life. My greatest passion is writing. I am a poet I started writing poetry at the age of 14 and within 6 years I have written over 100 poems. This has helped me with advocating. I have interest in Reading, History, Broadway, and old movies."
"I have a rare condition called Kallmann syndrome which meant I never went through puberty. I also have no sense of smell (anosmia). I was diagnosed at the age of 23 after being dismissed as a “late bloomer” before then. I am infertile without specialised treatment and the lack of pubertal development has left me very shy, socially awkward and very hesitant in attempting physical relations. I enjoy travelling and talking and meeting with fellow patients of this condition. I enjoy the chance to raise awareness of this rare condition. Early treatment and diagnosis of the condition would have helped my social confidence and not left me feeling left behind by my peer group."
"Adrian (B.A.&Sc., B.C.L./LL.B.) is a lawyer (Ontario) and Academic Associate at the Centre of Genomics and Policy at McGill. He manages the Regulatory and Ethics Work Stream of the Global Alliance for Genomics and Health – a consortium that frames policy and establishes technical standards to enable the sharing of genomic and health related data – where he develops guidance and tools to help researchers manage consent, privacy and security, and data access oversight. Adrian’s legal research focuses on how genomic sequencing, IT, open science practices, and patient empowerment are disrupting research, health-care and our notions of data privacy and data “ownership”.
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
"After many unnecessary injections and infusions, genetic testing revealed that she was misdiagnosed with juvenile arthritis. Learning of Kinslee's CACP syndrome both prompted the pursuit of surgery for her fingers and allowed stopping of arthritis medications, greatly improving her quality of life. Though happy and playful, Kinslee does complain of joint stiffness/pain and fatigues easily. An estimated 1 in 1-2 million have CACP, likely underestimated because of frequent juvenile arthritis misdiagnoses. Partly because of its rarity, there is no known treatment to improve symptoms or prevent the inevitable joint replacement surgery that is the result of chronic joint damage. Inspired by Kinslee’s tenacity and spirit, we hope to raise awareness for proper diagnosis, research for treatment, and patient/parent support."
"This is Olivia who is 5 years old from Nova Scotia, Canada. She was just diagnosed in September 2018 with a rare genetic disease called Ataxia Telangiectasia (AT). This disease will slowly affect her mobility, her immune system will be poor and her risk of cancer is high. This disease is so rare there is no cure or treatment currently. Life expectancy is only until her early to late teens. But we are working to change that. Olivia is full of life and loves to dance, do yoga, go on walks, play with her dogs and do just about anything she can. She is our little Wonder Woman :)"
"My name is Natalie Cinman, I'm from Montreal, and I advocate on behalf of patients with Osteogenesis Imperfecta (OI), also known as brittle bone disease. I love all things food/drink, cooking, spending time with loved ones and entertaining at our house. Having OI does not prevent me from living my life to the fullest. However, I do face daily challenges when it comes to accessibility. However, this does not stop me! I just plan ahead and do my research before any time of travel. I realize that it is not realistic for healthcare professionals to have a vast knowledge about all rare diseases, the patient must therefore become their own best medical advocate! With events such as Rare Disease Days, we can shed light on different diseases that may walk into an emergency room or doctor's office. It is especially important to listen to your patients with rare diseases, they have become experts in their disease and know their bodies best."
"My name is Lucy McKay I am a UK trained doctor and a director of Medics4RareDiseases (M4RD). My brother had a rare disease and I grew up around people with rare diseases. It was a shock for me when I went to medical school and found that that rare disease education was minimal despite rare diseases affecting 3.5 million people in the UK. I wanted to do something to help drive an attitude change towards rare diseases in medical education. With the help of colleagues I founded M4RD to achieve this aim. We connect medical students and doctors in the UK and internationally with opportunities in the rare disease world such as events and competitions. We want them to #DareToThinkRare. Find out more at www.m4rd.org"
"Dr. Eric Shoubridge is Professor and Chair of the Department of Human Genetics at McGill. He obtained his B.Sc. and his M.Sc. from McGill University, and his Ph.D. from the University of British Columbia. He conducted his post-doctoral training in the Biochemistry Department of Oxford University and joined the faculty at the MNI in 1985. He was elected to the Royal Society of Canada in 2004. Research in his laboratory focuses on the molecular genetics of mitochondrial disease. His laboratory developed models to investigate the transmission of mitochondrial DNA, and pioneered cloning methods to identify the genetic defects in patients with autosomal recessive mitochondrial disease."
Syndrome de Vacterl
"Je me nomme Audrey, le 28 février prochain j’aurais 29, je suis née avec le syndrome de Vacter qui est une maladie orpheline et rare. Le nom sonne comme une maladie compliquée dis comme ça, pour simplifier je suis venu au monde avec une dizaine de malformations congénitales allant de l’atrésie de l’œsophage jusqu’à la reconstruction de la vessie, moi j’aime bien dire que ma maladie et un jeu de domino qui n’a jamais de fin, quand on répare quelque chose autre chose doit être éventuellement fixé. Depuis ma naissance j’ai subis une quarantaine d’opérations chirurgicales, donc une transplantation rénale en 2003. J’ai pratiquement grandit dans les hôpitaux, les inconvénients de ma maladie c’est que ce n’est rien qui ne se voit au premier coup d’œil, alors quand je ne me sens pas bien ça ne s’explique pas très bien alors trouver ce qui ne fonctionne pas entraine toujours une longue liste de teste chaque fois que je me rends à l’hôpital. Je suis une femme épanouis et travaillante malgré tout, partager mon histoire comme ça c’est étrange mais ça fait du bien et si sa peut sensibiliser les gens ou donner espoir à d’autres jeunes gens j’en suis très heureuse. J’ai un tatouage qui dit ‘’Parfait dans l’imperfection’’ et je crois que sa dit tout malgré les cicatrices qui est le chemin que j’ai parcourus ou même les hospitalisations il y a toujours quelque chose au bout une solution et la beauté est dans l’œil de celui qui regarde."
"This is Jarmal Waitman Jr. , he is known as Mali to everyone. Mali was diagnosed with ataxia telangiectasia about 7 years old. I was devastated as a parent but, 8 years later Mali has been blessed to accomplish life and still be a kid. He doesn't allow his short breaths or limited mobility to slow him down. He cannot do everything he used to do such as buttoning, zipping, brush his teeth alone or care for his hygiene. There is much assistance that's provided from his parents and teachers. Mali's siblings are willing to assist him as well. Mali has red eyes people assume he's sick or tired that's the Telangiectasia. Mali has a poor appetite and a slurred speech but, he still is able to make friends wherever he goes. Mali loves playing his Xbox One S with his siblings or friends. He makes videos and sings karaoke. Most of Al Mali loves to learn about God and His son Jesus."
"Emmalyn [...] has a rare genetic metabolic disorder, Glutaric Aciduria/Acidemia Type 1 (GA1). [...] She is homeschooled to keep her from being exposed to all the germs in the school system. Emmalyn is now 7 years old and full of life. She loves dancing, riding her bike, playing with mommy, and being outside. [...] Looking back now, the worst phone call we ever received is also the best call of our lives in that it was what saved Emmalyn's life. Without newborn screening and the quick response by her medical team, she would be completely debilitated [...]. There is still much more to learn about her rare genetic metabolic disorder, many more people to educate, doctors, researchers, and scientist to inspire, improved protocols to be established, and a cure to be found."
Acute Disseminated Encephalomyelitis
"I was diagnosed [with acute disseminated encephalomyelitis] around 11 years ago. I had […] inflammation of both brain and spinal cord. It left me not being able to walk or talk. Recovery was slow, care was none existent. I have [had] ever since recurrent episode of not being able to stand, sensitivity to light and nerve pain. I’ve been called a liar and some doctors even questioning my mental health. It's been an exhausting battle just to even get this far with the experts. I'm happy to take part in anything if it means more answers and knowledge of what this disease does long term and what it means for me and my family as were all a bit lost with it to be honest."