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!


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-

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!!!


Tuesday, February 24, 2015

The Life I Envisioned

Many people have their life planned out. Some from when they are very young, others as they get older. Some people know exactly what they want to do professionally in life, they know exactly what their wedding is going to be like and some even have a picture in their head of what their kids might look like. They have everything all planned out. Or at least a plan of what they hope their life might be like. Me, not so much. As much as I would try to envision these things in my life, it was never really possible for me to do since they had not happened yet. I never pictured the "American dream", the house with the white picket fence. Just to have a house to live in, any house, would be a dream! I just let my life play out and accepted whatever came my way. All I ever expected out of life was to be happy, live happy.

I had(have) plans and vague ideas about what I wanted to do in life. I did plan on going to college for something.  I knew I wanted to get married and eventually have children. I knew I wanted to travel and enjoy life and try not to "grow up" too quickly.  After graduating from high school, looking at colleges was very intense for me. I was never one of those people that knew exactly what I wanted to do, professionally. Coming from a family of teachers I had always planned on teaching someday. When I was getting ready for college I was in much more of a creative, art-like, phase and was contemplating culinary or design. I chose design as I planned to, one day, own my own business of some sort. After graduating college I got a job in a high school, working as a paraprofessional, and decided then that I wanted to go back to school for my Master's in Education.

After receiving my Master's, my energy turned into focussing on a wedding. I wasn't one of those girls who had their wedding planned out to a -T-. Who pictured it all their life, as they grew up. Before I met Joe, it was impossible to envision my wedding when I didn't know who my groom was. Yes, I could kind of picture the decorations, the cake, the dress or even walking down the aisle. But it was impossible for me to really envision the true purpose and meaning of marriage without feeling that love. I even remember trying to picture my wedding after I met Joe, after we knew we were getting married but still couldn't. Not until it really happened.

When we found out we were pregnant we were very surprised but also very excited. We just got Bruli (literally 2 days before) and he was going to be the "kid" for a couple of years. I remember, as I started the nursery, trying to picture what my first born would look like. I remember looking in the crib and closing my eyes and not seeing anything. My baby face would pop up in my head. I remember thinking how cool it was not being able to picture it since it hadn't happened yet. And I do remembering thinking that it didn't really matter what the baby looked like because it was our baby. All that mattered was that we were together.

Throughout Evan's life I have held my head up and tried to stay positive. For him and for me. Happy was the only way to feel after he survived the NICU days. Happy was the only way to feel when he came home and reached his 1st, 2nd, 3rd and 4th birthdays. This WAS the life I envisioned. A happy life with my family, my child. Caring for him. Doing whatever it took to make him happy and feel safe and feel loved.

Some parents who have a child with special needs might say that it was something that they didn't plan for or didn't even expect would happen. I didn't expected to have a child with special needs but I knew that if I did it wouldn't matter. It wouldn't turn my world upside down. No way could it be considered a "burden" because it was my BABY. There was no need for me to be sad or devastated how dramatically my life would change. It wasn't about me.

No parent wants to see their child struggle developmentally or see them in pain or see them forced to be put in awkward social situations because of a physical uniqueness. As much as I have thoughts about what I would like Evan to do in life, it is hard to paint a picture of the unknown. I know he will walk someday. That vision is clear. That picture is vivid. I don't know when it will be but I know it will happen. I envision a very happy life for him. I would assume 'so far so good' since he is a cheery little champ! I envision a long and eventful life for him. The details of that life are still to be determined and thats ok. Sometimes it's nice not knowing what life is going to throw to you and just live. Happy.

Speaking of happy..


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


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.


Saturday, January 3, 2015

Neurology Visit

Evan visited his Neurologist yesterday to follow up with his developmental progress. He, as always, was a trooper especially since he is just getting over a stomach bug plus a yucky cold. His doctor was very happy to see how much he improved over the past year and a half. It is obvious he is still very delayed for a 4 year old so our goal is to "figure out" what's going on and make a plan to help him improve developmentally. So we have a few things we need to get done over the next few months.

Evan first saw his Neurologist in the beginning of 2012 because we were concerned with his delays. At that time Evan was the youngest child with Harlequin we knew of. So a lot of our assumptions were that his diagnosis and preterm birth were the result of these delays. He had an MRI done which showed under developed spaces of Myelin. And the plan made at that time was to increase all his services in hopes that it would help him reach the milestones which come so easy to many "normal" developing children. Though his therapies have immensely helped him improve across the board, he still struggles to reach milestones and the ones he has achieved, took years.

Over the past few years we have connected with families who have children with Harlequin, many who were born after Evan. It was interesting for me to see these children grow up and surpass Evan in the motor world. It confused me as we seemed to "blame" HI for his delays yet these other HI kids were doing so well developmentally. Granted he is the most preemie out of all the HI kids I know of, I have started to think that there is something else going on which is causing him to take so long to develop gross motor abilities. I have been asked if his lack of diet was thought to be causing his delays. I find it hard to believe since he has always gained weight and actually ate pretty well his first year of life. Yet he met very few milestones in the first 18 months of life. And after seeing multiple dietians, a naturopath and Yale's GI doctors, his weight gain is not average but its consistent. I mentioned this to the Neurologist when we met with her but she seems to think it's something else.

After evaluating Evan and being very pleased with how much he has improved since the last time she saw him, she still had some concerns. She wants him to see an orthopedist before we continue with a 2nd MRI. He has seen one before but at that time he wasn't nearly as "motor" as he is now. She also noticed how hyper-reflexive he was which is a sign of a nervous system "issue". She made a comment that even though he has been diagnosed, there could be underlying issues with the mutations he has in his genes. Evan has mutations in his ABCA12 gene which causes HI. When he was born his dermatologists mentioned that one of the mutations has never been reported. So this leaves lots of room for the unknown. I was confused as I thought these mutations just affect his skin. But there is so much they are still learning about the condition, with the Neurologist mentioning how a missing protein may be affecting more than just his skin.

I'm not sure if we will ever know if it was the premature situation, intense NICU stay, the unknown of what his mutations completely affect or all of them combined, that have ultimately caused these challenges for Evan. Nevertheless I am certain that we will triumph and get him to where he needs to be with time and a little (well a lot of) work. It has been evident that it takes him a long time to achieve developmental milestones, remembering at his 1st birthday he was like a newborn in many ways, but we will get there. Knowing that he has made more improvements in the past year than he has in his whole life reassures me for the future. He is our 'young warrior' and has been impressing me everyday for the past 4 and a half years and I'm sure will continue to do so for the next 50+.

Now please enjoy the cutest video ever!


Sunday, December 21, 2014

Our Facebook Page

I created a Facebook page so that everyone can keep up with my little guys at a finger's reach. I told myself I wouldn't, as I have the blog to update everyone but it is honestly easier & faster to update Facebook. Though I still plan on keeping up with the blog, I could also update the FB page when I don't have a chance to sit down at the computer to write.

Now that both of my boys have specialists to tend to, I wanted to be sure all of my family, friends and friends of friends are able to find out what is the latest news with my boys. Soooo here is the latest:

Evan, as you read already, is on the move. He is crawling all over the house, rolling around his cars and trucks. He loves to sit under the piano and tap on a drum or strum his little Mickey Mouse guitar while I play on the piano. He LOVES to play with the baby and show him his toys. He is such a great big brother and always tries to comfort the baby when he cries. He loves to help hold Vincenzo's bottle or "change his diaper". Evan says, "Goodbye baby. I go school now," every morning before  he leaves and "baby I home now," when he gets back. It is quite adorable.

Vincenzo is growing up fast. Something that is foreign to me since Evan takes so long to grow. He is wearing 6 months clothes already and is a whopping 15 1/2 lbs at almost 4 months old. He's wearing clothes that Evan was wearing when he was a year old!!! We recently were at the doctors following up with Cardiology. Vin had his 3rd EKG and Echocardiogram and did a very good job staying still for the doctors. Not sure how that will work when he's a wiggly 6 month old! All test came back good and the tumor in his heart has not changed size which is good in Cardiology's eyes.

We are getting very excited for Christmas! I hope everyone has a very happy holiday!!!

Check out our Facebook Page here!!