Netherton's is from the Ichthyosis family.
Pronounced ick-thee-o-sis.
Don't know what ichthyosis is? Go here:
http://www.ichthyosis.com/Show_n_Tell.htm
There is a lot of random information on the web about Netherton Syndrome. Here are a few sites that I have found and know to be the most helpful and accurate.
F.I.R.S.T. Website
(Foundation for Ichthyosis and Related Skin Types)
http://www.emedicine.com/derm/TOPIC431.HTM
http://www.cafamily.org.uk/medicalinformation/conditions/azlistings/n235_2.html
EmmaLee was five months old in this picture, but she still looks like a newborn! This is about when we got our final diagnosis. The doctors had been telling us for a few months that it was probably Netherton's Syndrome, but all the research we had done only made us wish harder that it wasn't.
EmmaLee and I flew down to Seattle to the University of Washington - Medical Genetics and Dermatology Department. The Doctor, Virginia Sybert, is said to be the Leading Pediatric Dermatologist in the NATION. We felt like we were going to see royalty or something! She was so nice, and really listened to my concerns and questions. She was able to answer some odd, but valid questions I had that no one else had been able to answer. Such as, will EmmaLee ever be able to scar? Which the answer is No. It was a very validating experience to learn so much about all the things we had been seeing and experiencing while learning how to take care of her. We knew what happens with the disorder from dealing with it every day, but now we knew WHY it was happening.
Short Explanation: EmmaLee is missing her Epidermis (which is the top layer of skin). Your epidermis has many important roles, such as maintaining body temperature, keeping germs and bacteria out of your body, and most importantly holding in your body's moisture. The second underlying problem is that due to a genetic mutation, she also Overproduces skin cells to compensate for shedding them. Combined, these two defects cause her to loose water through her skin, causing her skin to dry very quickly and peel off. Sometimes shedding an entire layer of skin each day. The redness is caused by the lack of the epidermis which also serves as a protective layer for all the many blood vessels that lie so close to the surface. EmmaLee's blood vessels are all but exposed on her face. She scratches and bleeds very easily.
Whew... that didn't really feel like the short answer did it? Well it was. There are so many different complications and effects this has on her body, but that is the basics.
Hi Anna Dawn,
ReplyDeleteI've been researching about Netherton's. My son was just diagnosed with Hyper IgE Syndrome, or Buckleys syndrome and I was curious about Nethertons because he also experiences several symptoms particular to it. I also have a cousin who has terrible Ichthyosis. She is the oldes of 6 girls in her family. 3 have it, 3 don't (her father does, her mother does not...) She has five children of her own now. 3 have it, 2 do not. I think I will send her your blog. Her children ask lots of the same questions my boy with Buckley's has. (like why do I have this...and why can't Jesus just come down and heal my skin...that sort of thing...) I also presume you are LDS (saw the temple in the background in one of your pictures...) and so am I. I know there are so many mothers out there dealing with such difficulties. It's taken us 6 years now to even get the answers we have and it's such a relief to finally know there's a name for what we've been experiencing. Anyways, I was just wanting to write and let you know that you are not alone. Keep plugging along : )