Friday, May 15, 2015

Ichthyosis Awareness Month 2015: Evan's Skin

Sometimes it is hard to wrap my head around the fact that Evan cannot live without Aquaphor. Seems hard to believe that something as "simple" as putting on lotions/emollients is keeping him alive. Or that bathing multiple times a day not only hydrates him and keeps him infection free but makes it easier to move around, without pain. Having healthy skin was something I definitely took for granted before Evan came along. I never in a million years would think that not having healthy skin (excluding cancer) was something that could be life threatening.

Evan's skin cells are not functioning properly. The mutation in his ABCA12 gene disrupts the transportation of lipids to the epidermis which is necessary to keep the skin pliable and hold in the body's moisture. His body's automatic defense is to make new skin, for protection, which is growing much too quickly to shed on it's own. Untreated skin will encase the body restricting movement & breathing, cause fissures and open wounds susceptible to infection, cause dehydration at an accelerated rate and manipulate facial features & digits, just to name a few.

Over the years, medical treatments have vastly improved for those with ichthyosis, especially Harlequin. Prior to 1984 no one, affected with HI, survived birth. It is just mind boggling that, in my lifetime, the evolution of medical care for HI has advanced so rapidly. I can only imagine the kinds of treatments (or cure :)) that will be available when Evan is 30!! I am very optimistic about the future medical advances that will be made for this disorder. And thanks to foundations like FIRST, stepping closer to a cure is possible!

Evan's skin care these days is the same ol', same ol' regimen. I think of caring for ichthyosis not as "lather, rinse, repeat" but "bathe, exfoliate, moisturize, moisturize, moisturize, repeat". Evan gets two 40-60 minute baths a day to exfoliate and hydrate, he's lubricated with Aqauphor (head to toe) 5-6 times a day, receives eye drops while awake and eye ointment while sleeping and gets frequent ear care and nail care when he's tolerant. And due to his hydration and caloric needs, he drinks a high calorie prescripted formula for nutrition,  a minimun of 36oz of water each day, and is offered unlimited snacks and "meals" (this kid is so picky he will only eat 3 specific meals/foods).

I think Bruli would totally jump in if I let him!

The biggest change in Evan's skin care, these days, is his MicroSilk tub. We have had it for almost 4 years and Evan has used it many many times. But now that he is finally reaching some gross motor milestones (sitting), it is easier to give him a bath in his big tub. One flaw of having a (almost) 5 year old that is the size of a skinny 18 month old, is that I have been getting away with using the infant tub one time too many. Since Evan is finally able to verbally communicate, he makes it very clear that he doesn't want to take a "blue bath" and I don't blame him! Evan LOVES his MicroSilk tub. This tub emits millions of oxygen rich bubbles, so small they are intended to deliver oxygen to your pores. Since Evan essentially does not have pores because his skin is so tight, I hope and wonder that this type of bath technology is making it possible to treat his skin in a new way. Not only does this tub significantly help with skin management but Evan is happy, relaxed and comfortable when using this tub.

I am very thankful that Evan was our first child. Ichthyosis and motherhood coexisted. It was all I knew what being a mother was like. There was never a time when Aqauphoring, after a bath or diaper change, seemed anything but normal. Now as a mother of two, Evan's baby brother being unaffected, makes me appreciate the little things. I probably would never think of how easy and quick a diaper change was if Evan was the younger brother. I am glad that I am able to appreciate these types of changes between caring for both boys instead of being discouraged about how easy it "use to be" if Vincenzo was born first. I like how ichthyosis has made me appreciate the finer things in life because with all considering we really do have a wonderful one.



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Sunday, May 3, 2015

Ichthyosis Awareness Month 2015

It's Ichthyosis Awawreness Month!! A month we recognize this life long disorder and come together to spread awareness. For the past few years I have hosted fundraisers for the FIRST Foundation. I contributed to "It Makes Cents to Help FIRST" and hosted two T-Shirt sales, Evan's FIRST Fundraiser, to raise donations for the foundation. This year has been very busy as our newest member was recently welcomed. So my time has been consumed with my two little miracle boys. But as luck may have it, FIRST started the RAISE Campaign to "Raise Awareness, Funds and Hope for FIRST".

So can you help me RAISE for FIRST??? Donations of any kind are the stepping stones to a promising future for those affected! For everyone who makes a donation, I will send a custom magent with the Evan's FIRST Fundraiser 2013 design on it, as a thank you! Any awareness that can be brought to ichthyosis or FIRST would be greatly appreciated!!! Feel free to share this photo! It can also be shared from our Facebookpage as well!

#HelpEvanFindaCure




And how I always love to start off Ichthyosis Awareness Month (IAM) is with the facts:

There is no cure for Ichthyosis.

Ichthyosis affects people of all ages, races and gender.

Ichthyosis is not contagious. It is caused by a genetic mutation in 1 of 40 genes that make up the skin.

- Ichthy comes from the Greek root meaning fish.

Some form of Ichthyosis affects more than 16,000 babies each year.
There are more than 28 forms/types of Ichthyosis.
Hearing and vision impairments are associated with those affected by Ichthyosis.
Ichthyosis Vulgaris is the mildest and most common form, accounting for about 95% of the cases.

Serious medical complications are associated with most forms of Ichthyosis including dehydration, infections, blistering, overheating, and rapid calorie loss.

The FIRST Foundation is the only patient advocacy organization in the country funding research for a cure.



Facts about Harlequin Ichthyosis:

Harlequin Ichthyosis (HI) is very rare and the most severe form of Ichthyosis.

HI affects maybe 1 in 1,000,000 people.

Each parent has to be a carrier of the mutated gene but show no signs of Ichthyosis.

An HI infant is born with plates of skin that crack and split apart leaving the body susceptible to life threatening infections.

At birth, the eyes and mouth are forced 'inside out' due to the tight plates of skin.

The ears of an HI infant may appear to be misshapen or missing, but are fused to the head by thick skin.

In the past, this disorder was always fatal but due to improvements in care it is now possible for an HI infant to survive.

The oldest person living with Harlequin Ichthyosis is 31 years old.

-Stephanie Turner (22) is the first woman, with harlequin ichthyosis, to have children.



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Wednesday, April 29, 2015

Spring Break Fun

We have been busy, busy, busy! I feel like I am repeating myself! It's hard to blog these days while caring for these two active boys! We had lots to do during Evan's spring break and I tried to make it an enjoyable week, filled with lots of activities and events!

First on the list was a movie. My mother and I took Evan to the local theater this winter, which shows the movies that are just out of the big theaters. Evan seemed to enjoy it, so I was looking foward to bringing him to a "real" movie in the big theater. On one of his first days of vacation, Joe and I brought him to see the movie Home. He was thrilled!


That smile says it all!!!


We lucked out with some really nice weather and thankfully the snow finally melted. We got to play outside a lot and took a few trips to the park so Evan could be a kid! And of course Evan wanted his brother to come along!
He wanted to play dinosaurs outside. Sure why not?


Park fun!!
He loves slides now!


Brother time!


Evan went to an aquarium when he was 2 and obviously doesn't remember. So on the only rainy day over break, my parents and I brought the kids to the Aqaurium. Evan was a bit weary at first and did not want to get out of the stroller. He warmed up and walked around with me to explore some of the fish, frogs, turtles and sharks!!





Ichthyosis Awareness Month Starts on Friday! Help us raise awareness by supporting the FIRST Foundation!! Thank you!!!!
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Friday, March 13, 2015

Snow Days

We have had quite the winter here! Not only were temps way below 0 many days but the snow was crazy too! I'm so sick of snow! Which is usually the consensus for everyone come the end of winter. Evan had quite the handful of snow days this year. Many weeks only going to school 1 or 2 days. So I have had my hands full the past few months! Luckily, this year Evan really enjoyed the snow and had some fun playing in our yard. He even got to go sledding for the first time! Enjoy the photos of this happy little kid in the snow! It was a joy for me to watch a kid being a kid!

January Snow Days
He loved walking in and kicking around the snow!


I remember the joy of playing in the snow when I was little too!


Evan was getting a kick out of Bruli's excitement too!


It's hard to tell who likes the snow more!


 February Snow Days
Good thing for snow blowers! AKA sledding track makers!

Evan's very first time sledding!!



March Snow Days
The crew


Vincenzo got out one day too!


That face is priceless! Pure happiness and joy!



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Friday, February 27, 2015

Rare Disease Day 2015

Celebrating World Rare Disease Day 2015


The reason why I blog is to raise awareness for ichthyosis. I want others to know about it, learn about it, help me on my mission to educate others and to support a foundation (FIRST) who only betters the lives and families of those affected. Of course on Rare Disease Day I am going to write about skin. But not ichthyosis skin. Epidermolysis Bullosa; EB skin.

Before Evan was born, skin conditions like his did not even "exist" in my world. I never heard of ichthyosis. Never saw anyone with it. Never saw anything online or on TV about it. I didn't know it exsisted. I had no idea what an impact healthy skin has on a human being and how easily it is to forget that your skin helps keep you alive just as any of your other organs do. Not only did I not know that ichthyosis existed, I never knew about another skin disorder which was just as, if not more, devastating that ichthyosis, Epidermolysis Bullosa.

After hearing about the possible diagnosis for Evan before he was born, my husband and I started doing research online. Unfortunately just about 5 years ago the information available is nothing like what is available today. It is quite amazing how the internet and social media has evolved in Evan's lifetime providing the most accurate information at your fingertips. Fortunately we were in good hands and were given the proper and accurate information about Harlequin Ichthyosis from the nation's leading experts. But basically the same time I learned about ichthyosis, I also learned about EB.

EB is devestating. EB is known as the "butterfly skin". I think of it as the polar opposite to ichthyosis. Where I have to scrub and scrub Evan's skin to get all of the thick build up off, EB skin is so incredibly fragile that the slightest friction can cause skin to blister, leaving open wounds. Severe forms not only affect the skin but also the soft tissues and organs. They are just as fragile to the slightest friction; even swallowing, blinking or digesting food causes pain and deterioration. Since there are only "treatments", those with EB endure a great deal of pain during bandage changes and while bathing. Open wounds are not only excruciating but are susceptible to infection. When I first learned about EB, Evan was still in the NICU and things were still pretty intense and critical. A week after he was born the National Geographic Channel aired a show called Extraordinary Humans: Skin. We knew to watch the show since our dermatologist told us a young woman with Harlequin would be featured in it. We watched Hunter's interview first and I remember feeling so relieved but still very confused trying figure out what HI was all about. After Hunter's story was Garret's story, who is affected with EB. After watching his clip I was heartbroken.  Evan was only a week old and I remember thinking to myself that I was glad Evan had ichthyosis and not EB. And I feel guilty and spoiled for thinking that.

Every time I hear someone's story who has EB, I am flooded with emotion.  I follow Jax's story online. It breaks my heart when I see his mother's posts about heading to the ER, yet again, to check his blood platelets. Or when little Easton was born; how my heart ached for his parents as he fought for months and months before he finally got to go home to his family. He as well as Jax are both currently in the hospital having procedures and surgeries done. The first child's story that I followed online was a little boy named Tripp. His mother writes a blog and I began reading it around Christmas time 2011. Not much longer after I started reading about Tripp he got his angel wings. My heart was broken for his mother, Courtney, and for their family. Too many sufferers have lost their life too soon.

Recently, EB has been talked about in Hollywood as Ian Ziering competed on the Celebrity Apprentice and chose an EB foundation as his charity. And the other day on Ellen, Robby and his family were raising awareness for EB on her show. I am so delighted for the EB community to gain more awareness.

I could only hope a cure can be found. I would gladly give up a cure for ichthyosis if one could be found for EB. Luckily Evan is OK. He isn't in pain every single day. Yes there will be bumps in the road and unfortunately possible hospital stays in the future. But overall, as of now, his quality of life is pretty good. I can hug my child. I can hold him tight and not worry about causing him pain or causing his skin to dangerously fall off. That is something that EB parents are unable to do and that is heartbreaking. You can help the lives of those with a rare disease. Especially this rare disease.

Help find a cure!!!
Donations can be made to any of the following charities. Thank you for reading, sharing and helping!

Epidermolysis Bullosa Medical Research Foundation- EbKids.org

Debra- Dystrophic Epidermolysis Bullosa research Association of America

iRefuseEB- I Refuse Epidermolysis Bullosa 



World Rare Disease Day Official Video 2015



Past Rare Disease Day Posts!!!






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Thursday, January 22, 2015

Throwback Thursday: Evan Hand-Me-Downs

Enjoy some cute pics of Evan when he was a baby. And Vincenzo wearing the same outfit years later!!! :-) Time is flying on by!!!



Evan 16 months  - Vin 4 months
I LOVE this sleeper! It's a Life is Good piece which says "Bee Happy". 
I had to save this one even though it got its fair share of Aquaphor.
(FYI- Evan just started eating yogurt and had a cute yogurt stache)




Evan 10 months - Vin 2 months
This hand-me-down was actually given to Evan from his Daddy! 
It is an outfit that the boys' great grandparents got when they were in Spain many years ago. 
Unfortunately we cannot find a picture of their Daddy wearing it. Maybe it'll pop up someday.




Evan 7 months - Vin 3 months
This onesie was definitely a keeper! Without a doubt their Daddy is their hero. 
Evan wore this countless times and Vincenzo probably wore it twice.
 Oh and Evan can still sit in the Bumbo and get out of it with no problems. 
The Bumbo goes with Vin as his chunky thighs get stuck in it!




And speaking of hand-me-downs, here is a video clip of Vincenzo getting kisses from Bruli in Evan's old jumper just as Evan did years ago!! This dog is a love-bug!

Kisses for Vincenzo
January 2015



Kisses for Evan 
March 2012



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Monday, January 19, 2015

Why I Hate and Don't Hate Ichthyosis

The life I live would not be a life at all, if ichthyosis was not a part of it. Evan is my life. (And now, his little brother too). And though ichthyosis comes with some characteristics that I without a doubt, hate, there are many reasons why I do not hate it as well.

I hate ichthyosis because it almost took my son's life.
     Watching my child cling to life in an isolette when he should have been in my belly, was a very scary feeling. Knowing this condition was at it's most crucial and life threatening state upon birth, was terrifying. I will never forgive "ichthyosis" for giving me those feelings.

I hate ichthyosis because it jeopardizes my son's health everyday.
     We have obviously gotten a hold on things over the years with skin management, feedings, hydration, body temperature, surgeries and infections. I have to admit we have been pretty darn lucky but the fact that that can change very easily, is yet again terrifying.

I hate ichthyosis because it will force Evan to be put in awkward situations because of rude and ignorant people.
     Luckily we haven't run into too many horrible souls in Evan's lifetime. The worst that stick out in my mind was the time I thought someone took a picture of him or the time at Target when a mom, who was thinking she was being a great mom, was saying something to the mom who let her child get severely sunburned. It is interesting to see how I have changed over the years when it comes to interactions with strangers. Fortunately, when we are faced with any awkward situation, I stay positive for Evan, tell him how beautiful he is and then give him a big kiss.

I hate ichthyosis because on winter days I'm fighting with humidifiers to keep the house moist and in the summer I fight with the air conditioners so that Evan does not overheat.
     I know this comes with the "ichthyosis" territory but I hate it. I hate the gut wrenching worrying when I hear about the 90 degree heat wave that is coming because it is a danger to Evan's health. I hate having to worry about loosing power during a thunderstorm because I won't have a way to keep Evan cool. I hate having to be stressed out anytime we are in the car, in the summer, because even though I have my AC on, it is never cold enough (especially since his car seat is like a personal butt warmer). I hate the winter because without good humidity, he gets fissures very easily. And for skin that heals as quick as it does, it sure takes a long time for these fissures to heal when every time you move they keep opening back up. I hate winter because tubs of Aquaphor, multiple baths and the humidifiers running 24/7, still isn't enough to keep his skin from tearing.

BUT if you are going to make a list there are two sides to it..

I don't hate ichthyosis because it has made me a much stronger person or at least, let my true colors come to light.

I don't hate ichthyosis because without it, we would not have met some absolutely amazing people and families.

I don't hate ichthyosis because it has given us the opportunity to educate others.

I don't hate ichthyosis because it has bonded me to Evan in a way I had never imagined I would be with my child.

I don't hate ichthyosis because it keeps my leather couch nice and soft!

I don't hate ichthyosis because I can get "free" chapstick anytime I want, just by giving my child a smooch!

I don't hate ichthyosis because it made me realize that clothes are JUST clothes.

I don't hate ichthyosis because it makes for easy identification to what Evan has or has not touched. (that will come in handy as he gets older and tries to be sneaky!)

I don't hate ichthyosis because it has made me care less about the insignificant things in life and care more about the important ones.

I LOVE ichthyosis because it makes Evan, Evan.




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