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 am 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 microdeletions and duplications. Today’s syndrome is a duplication variant of the disease we covered yesterday! I’m bringing this all up because I had a thought in the process of writing these that I worried some of you might’ve 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 bros 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 imposter 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 7,000 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? The National Organization for Rare Diseases says, "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 ‘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 17q12 Duplication as a syndrome occuring 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. The signs and symptoms include association with “developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects, non-specific dysmorphic features, hypotonia (which is decreased muscle tone), cardiac and renal anomalies, schizophrenia.
The prevalence of this disease is less than one in one million. Diagnosis can be confirmed through genetic testing using chromosomal microarray, or CMA. Treatments for people with this syndrome include physical, occupational, and speech therapies, as well as behavioral health management. The 17q12 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 7,000 varying 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 #14, 17q12 Duplication Syndrome
I’m yannick-robin. Thank you for your time.
Resources: