T-MINUS 281 DAYS UNTIL RARE DISEASE DAY
Hi friends, hope you’re well. What can I say, the disabilities be disabling me sometimes, which is why yesterday didn’t happen for Rare Disease Daily. It’s daily with a little star next to it that says “if there are the spoons for it”, you know what I mean? For non spoonies, the spoon theory essentially makes spoons capacity measurements, where in a healthy/abled persons cabinet there are limitless spoons, people like me may only have like two or one a day, so what we choose to do is rather important. Anyways, luckily we have our first disease we’re covering to actually have a foundation! So in this one we’re getting into the syndrome breakdown as well as hearing about where specifically we can help out, as well as some thoughts from parents of people living with this rare disease.
The National Center for Advancing Translational Sciences describes this syndrome as a “chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome. Signs and symptoms may include developmental delay, intellectual disability, and behavioral or psychiatric disorders. Some people with 17q12 deletion syndrome have seizures, and/or abnormalities of the eyes, liver, brain, genitalia, or other body systems. 17q12 deletion syndrome is inherited in an autosomal dominant manner (which means two copies of abnormal genes must be present in order for this to manifest downwards in the family line from parent to child); however, in most people with this syndrome, the deletion is not inherited from a parent and occurs sporadically. Less commonly, a person with 17q12 deletion syndrome inherits the deletion from a parent. Children of a person with the deletion have a 50% chance of inheriting the deletion.”
The prevalence of this disease is less than one in one million, and the diagnosis can be done through chromosomal microarray testing, or other genomic methods.
Fun fact, July 12th is 17q12 deletion or duplication syndrome day! The 17q12 Foundation is a 501(c)(3) organization that aims to raise awareness, provide up-to-date information, and facilitate resources to affected individuals and families, through supporting research via diligent networking and advocacy. They interact with the community and share stories to help others understand the experiences they live through, I will link to the video that shared some of these parent testimonials, but I’ll read some out to you now, so you can get a feeling for how the things they wish others knew about 17q12 Deletion Syndrome.
“My child doesn’t have certain symptoms now, but it’s unsettling knowing that they can develop at any time, or not at all. I wish people knew how sleepy he is. I wish people understood that just because they haven’t heard of it doesn’t mean it’s not real. It’s so hard to have people look at you like you’re making things up.”
To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
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 #13, 17q12 Deletion Syndrome
I’m yannick-robin. Thank you for your time.
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