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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. |
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May 1, 2016 06:20
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i looked up some pictures of it, almost everyone in those pictures is crying so it doesnt look like a fun time
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May 1, 2016 06:36
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sorry about your fish kid google this |
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May 1, 2016 06:55
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chances are you are the only person in your state posting in byob is here perhaps a correlation let us seek out the terrible secret of byob |
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May 1, 2016 07:00
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i have some pretty good jean-etics *sticks butt out and wiggles it at u* 
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May 1, 2016 07:39
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wow I'm aware now. good job!
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May 1, 2016 07:42
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Fish also get sick with something called ich it makes them grow white stuff on their scales |
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May 1, 2016 07:52
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May 1, 2016 07:56
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this thread makes me want to encounter someone with ichthyosis so i can be all no big deal |
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May 1, 2016 07:57
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holy poo poo
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May 1, 2016 08:06
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Sorry to hear about your kid google THIS, fingers crossed and keep fighting. My kid had 3 kidneys and had to remove one when he was 2 years old, less serious than this it seems but yeah - kids being sick is the worst. Maybe more so for the parents than the kids, the are just "used to" it... While we sit and worry our loving asses off.
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May 1, 2016 10:32
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<3 
<3 Vanisher |
stay safe little baby
---------------- |
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May 1, 2016 10:53
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i hope your son gets to have a working SPINK5 gene some day soon. |
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May 1, 2016 11:01
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I previously thought Ichthyosis was a dinosaur, so thankyou OP
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May 1, 2016 12:29
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(jokes aside, I wish the best for you and your kid)
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May 1, 2016 13:00
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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 |
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May 1, 2016 19:40
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OP I hope your kid has the +AC -Charisma version so he can at least make it work somehow. If not, i'm certain medicine will be developed Uxzuigal posted:Sorry to hear about your kid google THIS, fingers crossed and keep fighting. My kid had 3 kidneys and had to remove one when he was 2 years old, less serious than this it seems but yeah - kids being sick is the worst. Maybe more so for the parents than the kids, the are just "used to" it... While we sit and worry our loving asses off. dang was it like a bonus one that was in the wrong place or something? shoving the pancreas over or some poo poo? too much filtration power overwhelmed the bladder? |
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May 1, 2016 20:31
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also I put my money where my post is, specified research |
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May 1, 2016 20:42
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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. Was kinda "funny" - kid went into surgery, slept most of the day after narcosis. Next day he wakes up shouting my name in bed, takes 1 painkiller. Starts walking around the hospital with me, removes wires, no complaints or anything. Next day he wakes up jumping in bed. Doctors are shocked, take em to ultrasound: internal wound with minimal scar tissue... Get sent home same day. Was supose to stay 7-10days... Heh. Kid's bad rear end. Love em.
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May 2, 2016 00:20
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op i hope your kid grows up to lead a healthy successful life if he turns out to be a goon i'm sure he'll have a blast freaking out david icke followers |
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May 2, 2016 01:48
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sorry to hear your kid has the grey scale, op. ive heard there's a place to send them though (seriously though sorry to hear that are there treatments or what?) |
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May 2, 2016 05:33
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For some reason i always thought there was an L somewhere in the word ichthyosis, but this thread has made me aware of its absence. thank you, and I hope for all the best for your son
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May 2, 2016 17:41
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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 |
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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 |
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May 2, 2016 18:04
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nah I donated and specified I wanted the money to go to "unrestricted research" |
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May 2, 2016 18:09
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SniperWoreConverse posted:nah I donated and specified I wanted the money to go to "unrestricted research" cool, thank you 
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May 2, 2016 19:04
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If it weren't for byob I would have most likely never heard about Ichthyosis. Sorry that your kid has experience something like that, google THIS. I'll make a donation to FIRST once I get my paycheck this Friday. |
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May 3, 2016 00:17
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SniperWoreConverse posted:nah I donated and specified I wanted the money to go to "unrestricted research" Your support for this cause is indeed admirable, but I'm a bit concerned about the whole "unrestricted" nature of this research . . .
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May 3, 2016 03:52
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real research means getting your hands dirty. *dissects cadavers bought from grave robbers* |
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May 3, 2016 06:06
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Macnult posted:If it weren't for byob I would have most likely never heard about Ichthyosis. Sorry that your kid has experience something like that, google THIS. I'll make a donation to FIRST once I get my paycheck this Friday. same but Monday or Tuesday also: I'm getting this eerie feeling that the mantis project thread just may be this "unspecified research"... 
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May 3, 2016 22:57
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Stay safe op kid |
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May 3, 2016 23:31
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peanut posted:Stay safe op kid Just remember: OP's kid has awesome parents!
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May 4, 2016 01:29
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When I get paid I will make a small donation |
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May 4, 2016 05:16
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I've been aware of ichthyosis since last may and I've even told a few people about it since then. I hope you're kid is doing well Jett |
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May 4, 2016 14:12
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google THIS posted: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 do you know the name of the guy, or the paper title? I've been reading a little of the lit and there is some good news. Given it's location, size, and the fact you only need a single functioning copy between the pair, this most likely is going to be a curable disease in the near future through gene editing via CRISPR-Cas or similar technique. Its only going to take another few years to get the science there, and another decade after that to get regulation in place, but I'm pretty confident that by the time that child is in college, there will be an effective cure in place for these kinds of conditions, and possibly a wholesale elimination of the mutation itself from the genetic pool. So I guess I'm saying that it may be rough now, but you can be happy knowing that he will not have to deal with it all his life.
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May 5, 2016 02:08
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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 |
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May 5, 2016 03:58
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hi google THIS, i appreciated your thread about this last year and i'm glad that you and your son are still doing good. best of luck to you and my prayers go out to all people affected by ichthyosis. |
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May 5, 2016 14:28
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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 |
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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 |
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May 11, 2016 16:38
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apparently byob is a trendsetter, i see the words "chill" and "byob" everywhere and all of a sudden lots of people like weed and stuff like weed
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May 11, 2016 17:40
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