The Importance of Naming Every Rare Disease, Rare Disease Daily #14
Description
Vocal Characteristics
Language
EnglishVoice Age
Young Adult (18-35)Accents
North American (General)Transcript
Note: Transcripts are generated using speech recognition software and may contain errors.
T minus 280 days until rare disease day. Hello, friends. Hope you're well. So if you haven't noticed already in this program, I'm going down the list of documented rare diseases in an alphabetical manner, putting all numbered diseases before getting to the alphabet. In the first two weeks of rare disease. Daily, we've gotten to know a series of syndromes caused by chromosomal micro deletions and duplications. Today's syndrome is a duplication variant of the disease we covered yesterday. I'm bringing this all up because I had thought in the process of writing these that I worried some of you might have had as well. So we're going to dismantle what lies underneath the thought together. I think a lot about the time I spend online what I say online, taking pride in myself as an advocate can be difficult considering part of being the change you wish to see means crossing paths with people who aren't ready to see you yet, which can be a painful experience if people squirm their thoughts into the squishy parts of my brain. Well enough, I start to question the point in making anything at all. I am not Hank Green or Mark Rober, science loving Brose who can also have some fun with it. I pay a lot of attention to the little things in ways that I fear bore others. I had a choice when starting rare disease daily to clump any similar diseases together in a single episode or to give them all the space to breathe. I considered clumping them together out of the impostor syndrome looming above everything I do. But then I thought about the concept of using the phrase I have a rare disease. When people ask about my health, I don't name the disorder. I say the term rare disease. Why do I do this? You ask because there are over 7000 documented rare diseases. The varying prevalence of the disorders within the population of this spinning globe really puts the term varying to use. My disease has a very, very small handful of people living with it and I only met one other one through a chance encounter. No one is going to know what I'm talking about if I say specifically what I have because no one else has it. No one wants to put the effort or money into studying it. No one cares. So why name it? Even the National Organization for Rare Diseases says quote alone, we are rare together. We are strong. All of that to say, I want to apologize to the community affected by today's rare disease. As I tried to silence you in the fight against the silencing. This is not me dogging on the term the rare disease. As I am grateful to belong to a community of over 30 million strong. I just sometimes feel a little lost and forgotten when we talk about it. So vaguely, so broadly. I would want someone to take the time to name my specific affecting almost no one disease because even me, the one person imposter syndrome and all deserves to be seen, heard and respected. I am sorry. I almost let the opinions of others get in the way of you shining. I promise it won't happen again. The National Center for Advancing Translational Sciences describes 17 q 12 duplication as a syndrome occurring when a person has an extra copy of a portion of chromosome. 17 people with an extra piece of genetic information in chromosome 17 may range from a variety of experiences including never having any symptoms to having symptoms from birth to symptoms. Developing later in life. Designed on symptoms include association with quote developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects, nonspecific dysmorphic figures, hypotonia which is decreased muscle tone, cardiac and renal anomalies and schizophrenia. The prevalence of this disease is less than one in one million diagnoses can be confirmed through genetic testing using chromosomal microarray or C MA treatments for people with this syndrome include physical occupational and speech therapies as well as Behavioral health management. The 17 q 12 Foundation assists those with the deletion as well as helping those with the duplication syndrome. You can learn more about how to help them in the episode. Transcription links Rare Disease Daily aims to raise awareness for the community of approximately 30 million us citizens who experience either one or several of the over 7000 very rare disorders and diseases. Other people like me, we desperately need your resources and help for the sake of our basic human rights and for access equality as well as to encourage every listener to investigate whether or not they are rare, any language originally gendered will be neutralized to the best of my ability. This was rare disease daily. Number 14, 17 Q 12 duplication. I'm Robin. Thank you for your time.