Welcoming New Friends!

Well, we have had a lot of new traffic coming to my blog from our new friends on FaceBook via the
Netherton's Syndrome Research Group

And we say WELCOME! It really is comforting to meet all of you out there who are going through the same thing as us. I am truly inspired by this lady Carly Findlay who has Netherton's and has not let it dictate how she wants to live her life. She looks happy, and outgoing, and most of all she is not afraid to be herself no matter what anyone else thinks! Check her out!

Also the story of an adorable little boy named Jack really hits home for us. So many things that he and his parents are going through are all too familiar. They are doing an amazing job raising awareness in their country and fund-raising money for Netherton's Syndrome Research. I really admire their positive approach to their situation. They have done interviews, newspaper articles, etc. and have really gotten the word out there about Netherton's. They have set up a website: Netherton's Syndrome so go check it out too!

Anyways- thanks for visiting! And there are links to my specific posts about EmmaLee and Netherton's Syndrome in my side bar under my profile and pics.

Or- Everything related to EmmaLee, including pictures here:
EmmaLee

Staphylococcus Aureus - Staph infection

Our first run-in with a skin infection, which is supposed to be very common for individuals with Netherton's Syndrome, was last November. The skin culture showed two different types of Staph on her skin and it was obvious that something was not right. She was in agonizing pain, wouldn't let anyone touch her, hug her, pick her up, even pulling down her pants to use the potty was too painful.  The infection started on her legs, at least that's where I first noticed the discoloration and bumpy appearance, but soon began showing up on her torso, back, and arms.

The last time it was most likely contracted from a dog with a staph infected wound we had been around. I say most likely because it is VERY rare for a human to be infected from canine staph. A google search, which believe me isn't always accurate, gives many reasons why humans don't contract staph from dogs. The first and most important one is that humans have a skin barrier. Your skin keeps harmful bacteria out of your body, and since staph is not airborne it doesn't get in through your nose or mouth. The rare occasions are when humans have an open wound around the infected animal. EmmaLee doesn't have this skin barrier. She is that rare exception when staph becomes contagious from dogs through her open skin.  Now, I'm not a doctor...or even an expert on infections and types of bacteria...but I know more about my daughter than any professional ever will. I don't claim to be smarter than them, just more intuitive to my child's needs... "a mother's intuition" sums it up.  Granted, there is no proof nor evidence that the last infection came from that dog,... but I just feel it.  It makes sense.  The only logical source for the infection.  Coincidence?   No.   Maybe in these circumstances it is normal human behavior to find something to blame for someone's pain and suffering,...that's fine. I'll admit I just need to make something responsible for causing this trauma in our lives.  If I have nothing to explain this, how will I ever know when or how it might occur again?

It has. Saturday night EmmaLee was in so much pain that I took her to the E.R.  I think it was quite easy to diagnose this time since we now knew what a skin infection looks like, feels like (to her) and it's course of action.  It started hurting several days before. I knew something was happening, and her skin was different than normal (for her).  I feel so bad because I am the type of mom who says, "quit crying", "just get up and walk" (even when it hurts), and "okay, if you won't let me help, do it yourself".  Yes, bad mom.  I just know that the second I feel for her, really understand that she is in unbearable pain, I can't hold it all together anymore.  I've felt like a wreck these past few days, puffy eyes and always on the verge of tears. I can't stand to see my baby hurting like this.  We were changing her clothes to go to the hospital and she said something that just broke my heart. She says through sobs "I can't believe this is happening to me. I can't handle this."  Yes I know... me either.  Just writing about it makes me cry again.

Anyways, we got her on some antibiotics which seem to be working already. She still hurts, but she's not crying.  She's tough.  I hope I am helping her become a strong individual, but it sure feels wrong sometimes. I don't let her feel bad for herself, or make excuses why she needs special preference.  Don't misunderstand, I love my daughter more than anything, but I don't want her to become someone who feels like they were cheated in life and can never be happy or have a normal life. I want her to understand her uniqueness and then get over it, not dwell on her differences and wish for better things.  Acceptance, that's what it is.  I want her to accept it, and move on.  I'm sad to admit, but it took me a long time to accept our situation.  Trust me, dwelling on why things happened this way won't change anything. Wishing for things to be different, leads to disappointment and anger. I love her and I have to be strong for her, even though it's hard for me. 

Sorry for my random train of thought, I just needed to get it all out. I'm sure she'll be better in a few more days and back to her usual silly self again.

Oh, and she now wears glasses. At first I was apprehensive about the whole thing.  I mean, doesn't she have enough to deal with without adding this?  But I want her to have good vision, and now that she's been wearing them for a couple of weeks I can't imagine her not having them. She's just so darn cute. Anyways, it seems like glasses are becoming so commonplace nowadays that it hasn't been an issue even once. I remember when I was in school, yeah I say that like I'm old :-), and kids were just plain cruel to kids in glasses. I guess we will see what the school year brings, but for now hopefully we can get past this infection and just enjoy our beautiful Alaskan summer... except for that darn rain! Lol.

Why do I even have a blog?

So...the point of this blogging thing is to share what's going on in our life with our family and friends, but what's the point of blogging if it takes up the actual time you should be spending with your family? We have just been really busy lately, there is so much going on that I have grossly neglected my blog. I appologize and will try to get on track...starting with some pictures of EmmaLee getting on the bus on the first day back to school (again.)

This is her third year in Preschool at the Elementary in the Special Education Program. Her birthday is coming up in November so she'll be 5 for the majority of the school year. I'm glad that she will have this extra time to catch up before kindergarten although she will be one of the oldest in her class throughout school. I was always the absolute youngest one in my class. My mom pushed me ahead to 1st grade after my 3 years in preschool and I skipped the whole kindergarten fun. I was the last one to turn 16 and go on dates, and last to drive or get my permit. Blah Blah Blah... anyways, here's the pics.

Wedding Card and a few more pics

The wedding colors were pink and lime green, so I made a tri-fold card to coordinate and coincidentally it goes right along with Day 67- Think Pink challenge over at 365Cards!!

And now some more wedding pictures...

My sister Nicole and her (very serious) boyfriend, Chad.

Bride

Oops, I forgot this picture of Em with the bride, Miranda. Her flowergirl dress was really similar to Miranda's wedding dress!

Beautiful Flower Girl

My cousin Miranda just got married yesterday and EmmaLee was her little flower girl. She was so adorable!! I didn't get a lot of pictures, but here's some cute ones.

Scrapbook Day- 4/18/09

I recently went to a scrapbook day hosted by our Creative Memories consultant. I'm not very productive at those things, it's just too much fun talking!! But I did manage to complete this one scrapbook page. I entered it into the page contest, but didn't win. Hope you like it!

This layout goes along with a couple others I have already made about EmmaLee's 1st birthday, thats why I didn't think it neccessary to include that many pictures.

I made the button tree and backstitched the trunk and limbs. I also made tons of French Knots along the middle border. I love to sew on my pages! It took a while but I think it's fun to play around and especially when I'm really happy with the result.

Hearing Problems

We have recently have had a lot of hearing issues arise. EmmaLee gets quite a bit of "buildup" in her ear canals that we can't clean completely out and it has affected her hearing. Which in turn affects her speech development. She hasn't had a "normal" result from a hearing test since her birth. We were going in to see the ENT about every 4 months to have him clean off her ear drums, but it still didn't seem to be enough. We have since started going in about every other month to have her ears checked/cleaned. We have been in twice when the Doctor said that they were pretty clean, and he didn't need to do anything. But the times he does, are dreadful!!

He uses a long tubelike vacuum to suction off the debri clinging to her ear drum. The noise is quite loud, and she just screams like crazy. Mostly she's just scared of the noise, but it takes me and two nurses holding her body down so the Dr. can do it. She flails her arms and legs and jerks her head away from him so much that I have suggested using sedation for the times they need cleaned out. I can't imagine that he gets very close to the ear drum if he is constantly worried about her twitching her head and so not getting too close that it could injure her. We havn't had to sedate her yet, but we'll see about the next appt.

So in December we had him put tubes in her ears to help with the draining, and she also had her adnoids taken out. Apparently they help produce a lot of unneeded mucus. It seemed like she always had a runny nose, so it helped with that alot too. Well, the tubes have already fallen out within 2 months and they didn't help with the hearing much. One thing that the Doctor said was that when he was in there placing her tubes, he has never seen anyone with eardrums as thick as hers. The actual Tympanic Membrane is thicker than usual, which he thinks also might be causing her hearing problems. Which makes sense that her ear drums might be thickened since her skin is so rapidly turning over and producing new layers.

Originally we assumed the hearing loss was caused by the debri "buildup" in her ear canals and on the surface of the eardrum itself. The "buildup" mostly consists of dead skin cells, but then with her bathing process everything in her ear canals gets wet and waterlogged turning it into a kind of "goop". I clean her ears out thoroughly every day with a looped ear curette, but I won't ever go in deep enough that I might injure her ear drum. We love the ear curette, it works so well with getting out the debris and skin that gunks up in her ear. We use the white looped one that is second to the bottom in the picture.


At one point we were using a lighted ear curette that was amazing and prevented me from getting too close to the eardrum, but it was a sample and when the light burnt out we couldn't get insurance to buy a replacement for it. It worked like a flashlight, but used an led light that shone up the base of the ear curette and lighted up just the tip that was inserted into her ear. Oooh, I found some pictures to explain it better. I really wish we could afford to buy her a new one of these, it was great.

Well now that the hearing loss might be due to the thickness of the TM, we have started to discuss hearing aid options with the Doctor. But about a month ago we had another hearing screen right after a cleaning at the ENT and it really made a difference. For the first time we received a "normal" test result meaning she can hear at normal ranges. I have been so happy thinking that things are going to get easier for us, we wont need to look at hearing aids, and she will start to talk better and understand us better.

Well yesterday we went to the ear Dr. and he was very pessimistic about the "normal" audio results. He basically said that he thinks they did it wrong. If she's never had a normal reading before, why does she all of a sudden hear perfectly? I was at that Audiology appt. myself. I watched them do the tests, and I don't think they did anything "wrong". I can tell that her hearing has improved alot since we bumped up the cleanings at the Dr.'s. The Doctor, however, wants a "second opinion" and we will have to get her re-tested. So much for getting my hopes up.

Catching Up...

What you've missed...

For Halloween EmmaLee was Princess Belle and Ethan was her Knight. She demanded that we call her Princess EmmaLee Belle for weeks afterward! Oh, and I was a scarecrow.

I absolutely love the wig on her. I was kinda hoping that she would too, since she will never have a full head of hair. I've always been open to the idea that she might want one someday, I thought maybe even as early as 5 or 6 years old. Nope, she did NOT like it, just too itchy.

And... EmmaLee turned 4. She wasn't very happy on her birthday, not even blowing out the candles. But obviously she liked the frosting. There WERE stars around the whole border of the cake, until she ran her fingers through it. I actually sat there and secretly watched her do it, I think every kid is allowed at least that on their birthday! lol! What made her finally smile? ELMO pajamas!!!!

My Layouts

Okay, so these are really old pictures in the layouts but I've never scrapped them on anything. And...I actually made everything for the layouts myself!! Pat. Pat. Yes, I'm patting myself on the back.

And yes, I realize that these still need some journaling or explanation...at the very least, a date.

Part Two- The Diagnosis

Netherton Syndrome.

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.

Part One- The Disease

First of all let me start by saying that it is classified as a syndrome, not a disease. Although it does fall under the definition of disease, it is much more complex and thus called a syndrome.

I have adopted the term "disease" to try to signify the severity of it to onlookers and rudely inquisitive people.

Don't get me wrong, I welcome questions and would much rather explain it openly, but I do admit that my blood starts to boil when I hear whispers and comments behind my back as we pass strangers in the aisles of stores, "What's wrong with that baby?", "Oh my gosh! She got burned!","Look at that red baby!", and the most recent "What color are you?".

Once put to paper, so to speak, I guess they don't sound quite as bad as I interpret, but the tone in which they were uttered makes a vast difference.

Most of the time these comments are not made to my face and do not require an answer or explanation, and in previous years I was deeply upset by them and would hurry away trying to put as much distance as possible between us.

Lately I have confronted these ignorant exclamations and tried to explain that it was not caused by trauma, but genetics.

This is my answer:

"She was just born this way.
She has a rare genetic skin disease, and she will have it all her life.
There is no cure, only treatments.
It is not contagious, so you can't 'catch' it.
But she is still such a happy girl!"

Then I kiss her cheek.

And continue to answer their questions,
but now they are phrased delicately with concern and sympathy.


Part Two-The Diagnosis...coming soon.