Tuesday, September 29, 2015

The Kindergarten Life

I can't believe my boy is in Kindergarten. And it is no surprise that he LOVES it. I am so grateful for Evan's love for school; interacting with his peers, independence from home and his love & dedication to learning! He is so proud of his accomplishments whether a worksheet completed, drawing created or story to share. We are very fortunate to live in an amazing community and that Evan's peers are so kind, warm and accepting.
Dancing in music class!

The biggest change going into Kindergarten was getting use to a FULL DAY of school. Since Evan attended the same school for Pre-K 3&4 we had already gone through the process of transitioning into a school setting (were ichthyosis is concerned). But I was a bit worried how Evan would manage on an energy level for an entire day, as well as how his diet would be compromised from the "distractions" in the cafeteria. Luckily his energy has been great and to my surprise he comes home seemingly energized! Though all the fun of eating lunch in a cafeteria full of kids has been more enjoyable for Evan than Mommy. Eating well has never been his forte but we are still working on it!

Math center on the carpet!

As far as his skin care goes while in school, I have to admit that we have the best crew there is! Being away for 7+ hours compared to 3 is a big difference when taking care of his skin. And yet again we are extremely lucky to have a nurse, aides, teachers & staff that are all working together to make sure he stays comfortable and safe. He now gets to enjoy lunch, recess and specials at school so planning for his skin in different environments, like the temperature of the cafeteria or gymnasium to what kinds of paints he can have on his skin in art class, have been considered.

When it's too hot, Evan and a few buddies eat in the classroom!

All in all I have nothing to complain about. Evan has gotten into a good routine, now, being in school for a full day. I know he is in good hands and his skin is the "least" of my worries while he is at school. He comes home happy, excited and has lots to share about his day. I can only hope his enthusiasm for school will continue throughout the years and he will continue to "jump for joy" when the bus pulls up!
Evan's favorite thing to play, GROCERY STORE!

**Side note** I usually offer to go into the classroom in the beginning of the year to talk about Evan's skin with his classmates. Since most of the students know Evan already and they have accepted him for him, I decided to talk about ichthyosis from more of a biological standpoint than talk about differences (which I did speak about on the preschool level). I did this mainly because Evan is older and more aware now and I didn't feel like it was necessary to have a discussion about how "different" Evan was when he really isn't. He's a kid just like all of his classmates.


Wednesday, September 2, 2015

Goodbye Summer! Until Next Time!

Wow summer flew by! And we had quite a full one at that! So many fun memories, vacations and time spent at home with the family. Evan just headed out the door for his first day of Kindergarten. My emotions are going haywire but I am so excited for him and can't wait to hear about his day.

First on the list of summer fun was a trip down south to the Carolina beaches. Our entire family and extended family gather there each year. This year Joe was unable to join us again, due to work obligations, so I went down with the two boys. Thanks to the many helping hands, it was a fun vacation for all!

Listening to seashells!!

This one decided to wake up at 5am each morning. So we usually headed outside.

Evan played mini-golf for the first time!! And at an indoor course! 
AND we were with another child we met who also has ichthyosis!!

One morning it was cloudy and cool so as soon as Evan opened his eyes we went to the beach. 
Still in his PJs too! So convenient staying at a house on the ocean!

The next big event this summer was a vacation to Cape Cod! The weather was much more forgiving than the south and a cold front had come through creating ideal outdoor conditions for Evan. Unfortunately, he was a little under the weather himself so Joe and I were a bit worried to travel. Of course Evan said he "felt fine" and "didn't feel sick" to make sure we would still go on vacation. Luckily it all worked out and it was a great visit with more family.

The second time this guy got to play mini-golf!

Don't mind my sqeaky excitement!

It was a happy day!

Beach time was perfect and cool! To the point Evan asked for a blanket!

What's a Cape Cod vacation without stopping for some School House ice cream! 

Another big event this summer was our family camp out. We started the summer off with some backyard camping but Joe and I braved the wilderness to do some real camping with the boys. We headed up to the Green Mountains in VT and camped at a beautiful park with some good friends. Luckily they lived close by so we knew we had a house (aka bath tub) to go to when we needed it! Evan just loved camping! His favorite part was helping his daddy make the fire! And again we got beautiful, cool, comfortable weather which included some chilly nights! It was a great family outing!

We had a gorgeous spot on top of a grassy hill with a little nook of trees for shade!

Evan picked flowers for us!

Vincenzo enjoyed the camping life!

Evan LOVED the campfire!

The benefit to an early rising baby!



I probably could go on and on and on about how eventful our summer was. It really was the busiest summer we ever had. Which included lots of picnics, pool parties, birthday parties, playground adventures, Action Wildlife visits, LOTS of blue berry picking, fishing at the lake and the usual home fun. We were always doing something or going somewhere but also had time to wind down and rest at home after busy trips and adventures. AND did I forget to mention Evan was in the summer school session and had physical therapy at the house? Yes we fit that in too! Next post will be all about Evan's Kindergarten experience!!!

And I couldn't not post an Action Wildlife pic! We spent half of our summer there!!!


Wednesday, June 10, 2015

Happy Birthday Evan

We celebrated Evan's 5th birthday yesterday. It's hard to believe how fast time is flying on by. It feels like just yesterday he entered the world. And on that day we were filled with so much worry and fear; for his life and future on this Earth. Those feelings were uncontrollable and unfortunately not the typical feelings most parents experience with the birth of a child, their first child. Luckily we stayed strong and positive for him. Now, Evan is living his life happy and loved.

It has been quite an eventful few days of celebrating! Over the weekend we had Evan's birthday party, Monday we attended his preschool celebration/graduation and yesterday was his birthday! Not to mention he only has one day of school left before summer vacation!

Evan was just thrilled with all of the birthday attention this past week. He was very excited about his birthday party and just loved blowing out the candles on his cake. And as most children are, he was ecstatic about opening presents. He is such a sweet, loving, happy child. I am so proud of how far he has come!


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.


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!


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.


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!!!!

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!