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!!!

Rare Disease Day 2014

Rare Disease Day 2013

Rare Disease Day 2012

 

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

   

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) said 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.

 

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!

 

 

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!!

 

Tis' the Season

The Holidays are rapidly approaching and Evan is just delighted! He is very much into Christmas this year and Santa and PRESENTS!!! It is such a joy to see him get all excited over decorating, making cookies and getting & wrapping gifts. I have been anxiously awaiting for Evan to understand this season.

When we went to cut down our tree, Evan kept repeating over and over "Im so excited! Im so excited!" We brought a sled and everything as this was this first year there was snow on the ground while picking out a tree!!!

Evan had a holiday sale at school so he had the opportunity to buy presents for the family. I heard he took his present buying very seriously and never once asked or wanted anything for himself! A true gift giver!! I can't wait to see what he picked out for me. I have a feeling it will be by far my favorite gift.

But as much as it is the "season of giving" it is definitely a time to remember and be grateful for our blessings and the wonderful life we get to live. This is Vincenzo's 1st Christmas and Evan's 1st as an eager Santa fan! This will be a memorable holiday for sure!

Cookie Time!!!

 

Beyond Thankful

This year has been eventful. My pregnancy was quite the adventure from start to finish including a hospital stay at 36 weeks due to high calcium resulting in a parathyroid removal surgery at 37 weeks. I gained a whopping 60 pounds and gave birth via cesarean to a 9lbs 9oz chunker. As you may have read last month, Vincenzo has his own set of "challenges". Nothing like Evan but enough to cause worry and questions. But I still cannot help but be incredibly grateful for my perfect children and my perfect life.

Perfect. A word that many people strive to be. But what is perfect? I absolutely do not strive to be perfect in society's eyes nor want to be. Perfect has a different meaning depending on who you ask. And to me, perfect is what I want it to be. Perfect is being happy with your life. Perfect is being happy with yourself. Perfect is cherishing every moment with the people you love. I am happily married and have happy children. If you ask me, that's pretty perfect. The saying goes, "There is no such thing as perfect." This is true in respect to society's perfect because that perfect is not real. Perfect is what is perfect to you. I have my perfect so I can't say that it doesn't exist. No, it may not be what many consider perfect but it is to me.

This Thanksgiving is very special to me. My family is complete now that Evan is a big brother. We have 2 new babies in the family other than Vincenzo, who we will get to visit with on this holiday. I am beyond thankful for my family. And that goes for every single person in it. My parents and in-laws have been a huge help since the baby has been born (and obviously prior to). They have given me breaks and I have gotten many full night's sleep. They bend over backwards to help us when we need them and I am incredibly grateful for that.

My husband is truly an amazing person. I am so thankful for everything he does for our family. He works so hard to provide for us and makes it possible for me to stay home with our boys. Something that I do not take for granted and am so privileged to do. I know there are mornings when he's leaving for work before 6am wishing he was the one who got to stay home. He is such an amazing father and if you thought Evan had a nice smile, you should see it when Joe walks in the room. Evan absolutely adores his daddy and Vincenzo too!

I am beyond thankful for the life I have been given and the life I get to lead. I love my normal. I love my perfect family, pets included! I hope you all have a wonderful Thanksgiving and holiday season. Remember to not take the precious things in life for granted. Spend as much time as you can with your loved ones and cherish those moments.