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It's that time again, BYOB. May is Ichthyosis Awareness Month. Time to learn about Ichthyosis and help a good cause! What is Ichthyosis? Ichthyosis is a group of rare genetic skin disorders generally characterized by scaling or plating of the skin. "Genetic" means--and you probably know this but it's astounding how many people don't--that they were born with the condition, there is no cure, and it can't be passed to others. The scaling is what gives ichthyosis it's name (ichthyo- = fish). (This is an example of ichthyosis scaling. This person probably has ichthyosis vulgaris, the most common and least serious type) Most of these conditions are autosomal recessive, so people who are born with it usually come from two carrier parents who have no freaking idea what they're getting into. The different types vary in severity from "annoying" to "a few decades ago almost no one survived past infancy," and even within a type there is a broad spectrum of presentation depending on how badly the affected gene is damaged, but here are some of the common symptoms, complications, and other problems:
Why do you care? My three-year-old son was born with Netherton Syndrome, one of the most severe types of Ichthyosis. Why is Awareness Important? You may have never encountered someone affected by ichthyosis and there's a chance you never will, but because the conditions are so rare and because they can cause a person to look dramatically "different," everyone who knows about ichthyosis is one less person who can ruin an affected person or family member's day. Social ostracization, bullying, staring, questioning, and comments can cause more misery than the actual medical aspects of their condition. Some things to consider:
What is the FIRST Foundation? The Foundation for Ichthyosis and Related Skin Types (yeah I know, it's redundant to say "FIRST Foundation" is redundant) is an awesome charity and a beacon of hope for those affected by ichthyosis. Among other things, they fund research and genetic testing (some families have to wait years for an official genetic diagnosis), and they host and sponsor events, summer camps, etc. so families can network and meet other affected individuals. Their biannual US national family conference will take place in San Diego this June, and you'd better believe I will be there. FIRST is a small but highly ethical charity, with about 80% of spend going directly to programs and services as verified by their independently audited financial statements. (source: http://www.firstskinfoundation.org/content.cfm/Ichthyosis/Annual-Report-Financials/page_id/950). If you can make a donation in any amount it would be much appreciated. And remember, BYOB, dogs can have ichthyosis too. I'm going to try to make at least one informative effortpost per week through the month of May. Coming up: some explanation of the various types of ichthyosis, and later, my son's own story. TL;DR May is Ichthyosis Awareness Month. Ichthyosis is a group of rare genetic skin disorders ranging from "slightly dry/scaly skin" to "severely disfiguring/life-threatening". My three-year-old son is affected by a severe form of Ichthyosis called Netherton Syndrome. As such I like to participate in Ichthyosis awareness and plug the FIRST Foundation, a non-profit that spreads awareness, funds medical research, and runs events that help affected individuals and families learn and network. |
# ¿ May 1, 2016 06:20 |
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# ¿ May 19, 2024 20:45 |
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TWIST FIST posted:i looked up some pictures of it, almost everyone in those pictures is crying so it doesnt look like a fun time that's because you're mostly seeing either medical photos or buzzfeed articles that probably don't even have the name of the condition right. while I don't want to minimize the medical, emotional, social, and financial struggles these conditions bring about, these people's lives are not pure misery Celluloid Sam posted:Fish also get sick with something called ich it makes them grow white stuff on their scales ironically, that's actually healthy human skin emptyquote treasure bear posted:i hope your son gets to have a working SPINK5 gene some day soon. this could actually happen. there is a British study that modifies a skin patch using ex vivo gene therapy to replace the faulty gene. the theory is that even a few square inches of skin producing the healthy protein could have generalized benefits |
# ¿ May 1, 2016 19:40 |
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Uxzuigal posted:Yeah, the bonus one was cystic+fused with the functioning liver. He's got OK liver function now 40% on one, 60% on the other. (Supose to be 50/50). Wont suffer anything bad from it. kids are pretty badass in general and i can't believe how resilient they are. glad your kid's ok |
# ¿ May 2, 2016 18:02 |
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SniperWoreConverse posted:also I put my money where my post is, specified research i'm not quite sure what you're getting at but here's some specified research if you feel you're lacking it http://www.firstskinfoundation.org/content.cfm/Ichthyosis/FIRST-Funded-Research-Projects/page_id/972 |
# ¿ May 2, 2016 18:04 |
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SniperWoreConverse posted:nah I donated and specified I wanted the money to go to "unrestricted research" cool, thank you |
# ¿ May 2, 2016 19:04 |
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Piso Mojado posted:do you know the name of the guy, or the paper title? here's a writeup https://clinicaltrials.gov/ct2/show/NCT01545323 as I understand it, the procedure is to take a skin biopsy, fix the mutated gene using a retrovirus (which, interestingly, is genetically modified HIV), grow it to about 20 cm², and graft it back onto the patient, where hopefully becomes a factory producing healthy LEKTI protein i'd try to get in line for the trial but it's across the pond and they're only accepting adults at the moment |
# ¿ May 5, 2016 03:58 |
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thank you everyone for your generosity and interest. you're good people I've been trying to cobble together an effortpost about the various types of ichthyosis. I've realized that a) I'm pretty ignorant on the specifics of a lot of the types because I am, I guess understandably, pretty focused on Netherton syndrome, which is an outlier and has a lot less in common with other types of ichthyosis than they have with each other. also it's hard to find example photos of a quality that I'd like I think what I'll do at this point is compile some good info links and maybe add them to the OP and move on with my experience with my son |
# ¿ May 10, 2016 02:52 |
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i think it was very smart planning on the part of FIRST to make the 2016 ichthyosis awareness month logo using the byob colors |
# ¿ May 11, 2016 16:38 |
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retinoids are a big deal for a lot of ichthyosis patients because they can help regulate skin generation and thus reduce the formation of scales however, they're majorly contraindicated for Netherton syndrome because in NS skin is thinner than normal to begin with and retinoids would only aggravate their condition individual responses to topical treatments and drugs is so varied that I think of treatment as building up an arsenal of stuff to try, then sticking with what works and customizing it to your needs i've heard people swear by stuff that my son has reacted terribly to and vice versa |
# ¿ May 11, 2016 20:32 |
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# ¿ May 19, 2024 20:45 |
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i'm still digging the well in the basement but once it's done i'll start collecting some primo skin |
# ¿ May 11, 2016 20:42 |