Educating the Trolls..

Friday night I couldn't sleep after seeing a picture of a Harlequin baby being misused for attention on Facebook. Reading the comments made me nauseous especially since there was no information given about the baby as to what it was or how someone could really help. The only words connected to the picture were 1 LIKE = Get well soon. Seriously people? Do you really think that liking the picture is going to help the baby get well? Obviously not, just like all the other FB junk chain pictures saying LIKE if you respect, Ignore if you have no soul blahh blahh. It's disgusting what people will do for attention and I wasn't about to sit there and let all of the ignorant people continue to say horrible things about an innocent baby whose photo was stolen.

My immediate reaction was to comment on that photo to try and educate the commenters and trolls. Incredibly unsuccessful. As I commented with what the diagnosis was and added a FIRST link, I noticed it was useless because at least 30 new comments were coming in at the same time. Many people were commenting that it was baby Brenna and referred people to her site. Fortunately, I knew it wasn't Brenna since I had seen this picture when Evan was born. I fell asleep aggravated as the comments accumulated over 10,000 and the likes were reaching 500,000. There was obviously too many people wrapped up in this viral photo and impossible to educate them when thousands of comments were being posted as the minutes passed.

I woke up early Saturday morning eager to try and educate others about HI, especially the ignorant trolls. I decided to make a picture collage of Evan with information on what the condition was and where to go if people really wanted to help. This is what I came up with. (Please excuse my errors. I was fired up and didn't check spelling)

click to enlarge

The top picture is of Evan at 9 days old and the bottom at 2 1/2 years. There are some mixed feelings with people I know about 'putting Evan's photo out there for all to see'. The top photo is already on my blog as well as a few others, with my permission. And as much as it is a photo that maybe frightening or hard to look at, it's the truth and is what Evan looked like when he was born. There is no sugar coating it, it is what it is. I know that there are evil and ignorant people out there but the way I look at it is that education should be honest. And that is what this picture represents. No, I have no control what the creeps and trolls do but if I don't educate others then misconceptions will continue. 

My boy is beautiful. He is an amazingly happy little man and always has a smile on his face. He will grow up knowing that he is perfect just the way he is.

 

The Season of Giving..

I hope everyone had a very Merry Christmas and a Happy Holiday! The new year is just around the corner and more of our family celebrations have yet to be celebrated. I have been a little MIA from the blog to the point where this is the first time I have logged in, in over a week. As you could probably tell from my last post, Heartbroken, it was a pretty gloomy week here before Christmas.

That whole situation has made me appreciate life even more and has made me feel so incredibly fortunate for everyone and everything in my life. The whole "26 Acts of Kindness" is a wonderful avenue to pursue which I am partaking in. In light of the holiday season, I ask you to consider making a donation to a charity, help out another who is in need or volunteer somewhere. And to make sure your loved ones know how grateful you are to have them in your life. I am so grateful to all of my family members, friends and strangers who have been so kind to Evan and to all who have supported the FIRST Foundation.

Even though my life feels complete, a cure for my baby is all that could entirely complete my life. Possessions and luxuries could never truly make me happy or feel 'completed'. Every shooting star, lucky penny, or wish I make, is for a cure to be found someday for my lil man. A cure from the comfort issues with scales & dryness, dehydration, crazy metabolism, and infection risks. I would never want to change the way my baby looks but if  I could take away all the complications and life threatening challenges I would in a second. Maybe someday it will be found. Fortunately Evan is a happy little man so we will do just fine until then. (I keep telling my sister to go into Ichthyosis research since she is a Scientist and is pretty much a genius with genetics and pharmaceutical research.)

No matter the 'Act of Kindness' you choose, it will make your soul feel better. The FIRST Foundation is a wonderful non-profit organization that connects families who are affected by Ichthyosis and educates those who are not familiar with the disorder. They host conferences both national and regional to connect families and share the newest information regarding research and treatments. This foundation also helps fund research for a cure. They have been nothing but a wonderful conection for our family.


A few other charities you may be interested in helping:

Autism Speaks- www.autismspeaks.org
    In memory of Rachel D' Avino, a Behavior Analyst who lost her life in the Sandy Hook tragedy.

Trisomy 18- www.trisomy18.org
    In honor of two miracles I personally know who are affected by Trisomy 18

Debra- www.debra.org
    In memory of a little boy named Tripp Roth and in honor of a baby boy named Easton Friedel who is currently fighting Epidermolysis Bullosa to stay alive.

Thank you!! Enjoy your New Year celebrations!!!

     

Heartbroken..

This post is written with a heavy heart. The events in Newtown, CT have strongly impacted my soul. I am devastated for the families of the victims and those who experienced this tragedy unfold. Being a Connecticut resident, an aspiring teacher and having many many friends, family members and acquaintances in the CT school system, it hits way to close to home. I give my most sincere condolences to all who lost a child or family member in this unfathomable tragedy.

Evan and I had an appointment that morning in Hartford (which ironically was changed at the last minute instead of Danbury). I saw something on Facebook mentioning a school shooting as I waited for  the doctor to come in. All I was thinking was, who do I know in Newtown?  The appointment was pretty quick and we were back in the car by 10:30 - 11:00. Once the radio came on, I started to hear more information about what was going on. All they were saying was that one person was confirmed dead, the shooter. I kept changing the channel to get more info but it was lacking. Immediately when I got home, I turned on the TV as I prepared Evan's bath. What a horrible feeling. From what I thought and was hoping wasn't going to be bad, turned into devastation. I was instantly emotional and trying not to be as I did not want to upset Evan.

I listened to the TV as I gave Evan a bath trying to hold back tears. Luckily he fell right asleep afterwards and I was able to get some of my emotions out. No names were mentioned until they released the shooter's possible identity. I was quick to google his name and then my heart fell to the floor. One of the first things that popped up was, "Dawn Hochsrpung, principal of Sandy Hook Elementary". A woman who I worked closely with on the start to my educational journey for my Master's. Still unconfirmed at that time of her condition, I would not believe it was her. I was quick to message a friend I worked with at the same time as Dawn. Reading his message response "It's her" brought me to sobs again. I could not believe this had happened to her, to her school. More bad news rolled in as I received a call from my sister. My mother's best friend's niece also worked at Sandy Hook. She unfortunately did not survive. Yet another brave soul who was trying to protect the students. My heart aches for her family. Though the pain I feel could not compare to those who lost a family member. I am so sorry.

It has been a gloomy weekend here in CT. I had no desire to 'have fun', listen to Christmas music, or finish my Christmas shopping. I pretty much didn't feel like doing much at all. I mustered some energy to play the piano and find myself repeating Silent Night. I have been going in 'waves' as Im sure many are. Our state and country are devastated but we will move forward. A tragedy like this puts things in my life into perspective. Knowing how lucky I am to have my friends, family, husband and an amazing son is a blessing. Realizing how precious and short life is makes me only want to live and lead a positive lifestyle.

Praying for Newtown

Bless you all..

Sharing Stories: The Toddler Years

Last week I posted, Sharing Stories, and explained that I would be a guest writer on the blog, Confetti Skin, Beauty Within. Harlequin ichthyosis has been one of the discussions on this blog and I was asked to write about my experiences caring for my child with HI through the toddlers years. You can read that post HERE or read below what I submitted to their blog. Be sure to check this blog each week to read others' stories about living with Harlequin ichthyosis.

"The toddler years I had envisioned for Evan are not what we are experiencing right now. Even with all the challenges he faced with his skin and as a 30 week preemie, by the age of two, I did not expect him to have the delays that he has. I never expected him to be walking by two but I thought he would, at least, be sitting. It has been quite a challenge. Not only caring for a child who requires specific, meticulous skin care and therapies but caring for a child who still requires those infant needs (two years and counting) is draining.

By no means am I disappointed with Evan’s progress. I am extremely proud and impressed with his accomplished milestones (which are endless) and his pleasant, happy demeanor. Even though Evan still has many infant needs, it is tolerable. Not only because I would do anything for him but because he rarely fusses, gets cranky or cries. He tolerates the long drives to Yale and the never ending doctor visits. He tolerates the skin care, baths and Aquaphor applications. He is a little social butterfly when we go out anywhere by smiling, waving and giggling at others and his surroundings. He loves to play with his toys, watch his favorite cartoons and snack on cheese puffs, veggie sticks or yogurt melts. He has made a significant leap in progress with his cognitive and receptive skills in the past 6-8 months. And he has made some progress in his fine and gross motor skills over the past 6 months as well. But I would refer to them as baby steps rather than leaps.

As of now, at 2 1/2 years old, Evan needs support when sitting, neglects to prop when tipping/falling, needs prompts and encouragement to rollover, tires easily when propping on his tummy, stands with support for up to 30 seconds, uses a prone-stander, pony walker and custom highchair to strengthen his core and legs, and will rarely bear weight on his hands when placed in four point. He receives multiple physical therapy sessions a week and weekly to bi-weekly occupational therapy, speech, aqua-therapy and developmental teaching sessions. His gross motor abilities have always been the most delayed and most difficult for him. With his excessive calorie needs and not being a good eater, he tires easily and looses calories quickly.

Diet has always been a struggle for Evan. He has never been a good eater and never had a big appetite. He is still on the bottle which is about 80% of his diet. He eats PediaSure Peptide 1.5. (which is 42.5 calories per ounce!!!). At meal times, he will eat a little bit of yogurt, pureed baby food or my dinner mushed up. Most of the time he refuses the spoon from entering his mouth. He doesn’t struggle to eat, chew or swallow, he is just choosing not to. He snacks on Gerber cheese puffs, veggie sticks (potato based), yogurt melts, baby cookies, crackers or cereal. And of course the snacks are his favorite thing to eat and opens his mouth wide when offered them! Evan will drink at least 5 ounces of water from a sippy cup everyday.

Carrying Evan around is exhausting. The baby carrier alone probably weighs close to 20 lbs and Evan is getting closer to 19 lbs. Since he cannot sit on his own, using the carrier is the only way to cart him around for errands and appointments. I put the carrier into the stroller when I can but for errands he gets popped right into the shopping cart. His tiny little feet stick out over the edge since he is definitely outgrowing this seat in length. About 95% of the strangers we bump into ask me “How many months is he?” Considering, many parents only use the carrier while their child is still unable to sit independently.

As far as practical tips or things I have to do (other than what I have mentioned) when caring for Evan, have to do with being clean. Since infection is such a risk I have to make sure things aren’t germy or dirty. And with Aquaphor, EVERYTHING gets gooey and gross. All toys with exception to electric toys get washed constantly. Whether it’s the plastic shapes, rings, animals, or cars being thrown into the dishwasher or the cloth books, rattles or stuffed animals being thrown in the washer, it’s a never ending battle. Plastic electric toys are wiped down with a clorox wipe, soapy rag then paper towel. Cloth electric toys are wiped down with a rag and once it gets to the point of no return, these toys get the boot. Books are constantly being wiped down as well as all of the surfaces Evan plays or eats on.

Since Evan isn’t walking, I don’t have to follow him around with a rag to clean up his Aquaphor fingerprints. Anything he touches needs to get wiped down. Not because I think Aqauhpor is yucky but because it can catch and collect all kinds of dirt and germs (and lots of Bruli hair). I use a lot of receiving blankets because since I know they are clean, I feel more comfortable with Evan’s head resting against it. Making sure he has a fresh & clean blanket to rest his head on when being held, in the car seat, rocker, couch, bed or when being changed bed helps to prevent Aquaphor build up which prevents bacteria build up. Yet another never ending battle especially since Aquaphor does cause some wear and tare around the house, especially to the washing machine.

Evan is a very smart little boy. He is soaking things up like a sponge and he is picking up on some sign language to communicate. He babbles a lot and attempts to repeat the sounds he hears in a word when prompted. He understands basic commands or requests and he knows what he wants and how to get it. He has a lively bubbly personality and always has a big grin on his face. It is interesting that he is smart enough to understand what we ask of him in therapy to master the gross motor skills that usually comes naturally to a child. (We will say things like rollover, push up, stand, hold on, pull, etc) Evan is making his way, slowly but surely.

There is no definite answer or reason why Evan is so far behind developmentally right now. Not every child with HI will or has experienced the same developmental progression as Evan. Everyone is different. Everyone develops differently and in his or her own time. Evan’s preemie status, intense birth, severe neonatal period, excessive calorie needs and lack of appetite combined could all be the reason for his developmental path. We don’t really know for sure. But looking at it through a different spectrum, Evan has avoided the need for a feeding tube (as of now), has never gotten a skin infection (knocking on wood), did not have any reflux issues, and is a very well behaved child for all he has to put up with. It has been a bumpy road but we are coming to a straight-away. I am excited for Evan’s future and am incredibly proud of how far he has come. He is the light of my life and puts a smile on my face day and night."

Don't forget to check Confetti Skin, Beauty Within to read MORE stories!!!!!!!

 

2 1/2 Years Later

Wow. Two and a half years have past since we welcomed Evan to this world. And on that day this point seemed so far away and no where in sight. Time flies, as the saying goes. And with that time passing two years, I almost feel as if not much has changed. I more or less do the exact same thing for Evan everyday. From feeding him bottles, to carting him around in his car carrier, to therapy activities, to Aquaphor applications; it's pretty much the same.

I honestly have no clue what kids Evan's age are 'suppose' to be doing. I have no clue what the average 6 month old or 14 month old is doing. My boy is now 30 months old. 30 MONTHS!!!! So when I see a healthy 8 month old sitting and piggin' out on baby food, I am amazed. It excites me to see other kids do these things that hopefully Evan will too. And I try not to compare especially since Evan has many challenges on his plate but at times I just don't get why he struggles so much with his gross motor milestones.

As I mentioned in my last post, I was given the opportunity to be a guest writer on the blog Confetti Skin, Beauty Within. I was asked to write about the toddler years while caring for my child with HI. I almost feel that I do not have much experience with the 'toddler years' since Evan isn't doing many toddler things. I have heard and talked to some other parents, who have children with HI, that have developed much faster than Evan. Some preemie and some not. Apparently, Evan is taking his own path. He has been improving substantially in the recent months.

I still can't believe he is 2 1/2 years old. He is still a baby to me, as he will always be 'my baby'. I know I have heard some people say 'they wish the newborn/infant stage lasted longer' since babies grow up so quick. I have to say I am sooooooo ready for that stage to be over! Though, cognitively, Evan is thinking like a toddler. He may not be able to move to where he wants to go or open up his toy box and choose a toy but he will make sure I do it for him. He is a smiley, giggly, happy little man. Which makes me not worry as much. Granted that worry with NEVER go away, it just hibernates easier when I see his happy face.

This will be Evan's 3rd Christmas. And looking back at his pictures and remembering what he was doing developmentally, makes me realize that he really has come so far. Maybe not 'average' progress or development but for Evan it's extraordinary. I am very happy with the care he has received, we have been so lucky in the skin department (infection wise), and he's a sweet, content and happy boy. He amazes me everyday. As much as I wish he could just pick up the pace a bit, I really have nothing to complain about.

2010

2011

2012

 

Sharing Stories

The past few weeks, Harlequin Ichthyosis has been the topic on a very informative blog, created by some friends in the Ichthyosis community. The first week, they posted information about the genetic details of HI and explained it thoroughly. The other posts will be written by guest speakers about caring for or living with Harlequin ichthyosis through the different stages of life. So far, 'Newborn Surprise', 'Life in the NICU' and 'Going Home' have been posted by Alicia, mom of 6 month old Efrain. The next guest poster will be writing about the 'first year' and I am writing about  'the toddler years'. Interestingly enough, as I read others experiences about their birth, first months or even first year, our stories are all so different.

I feel so empathetic for the way other mothers & fathers received the 'news' about their child having HI. Not only for it to be a surprise but a hospital's little of knowledge about Harlequin is a huge reason for fatalities. Knowing how to care for an HI baby in the neonatal stage is critical. And when a baby is born with no warning signs or preparation for HI care, makes the situation that much more intense and severe. I feel spoiled, in a way, after I hear others' birth stories. Evan's diagnosis was given to us 2 days before he was born. Yale had 2 days to prepare for an HI birth. Yale had experts who were guiding the neonatal team how to care for a child with this condition. We fell into the right hands and were given so much hope for our baby.

I highly recommend you follow along on this site, Confetti Skin, Beauty Within, and learn more about Harlequin Ichthyosis. My story will be posted in a few weeks and I will link up to it. I find it incredibly interesting (obviously) and enjoy reading about others who are experiencing similar things. It is hard not to feel connected to someone who understands what you are going through. Whether you are both moms caring for your child with HI or a mother connecting with an adult who is affected. I look forward to reading all of the posts on this site and hearing a bit more about the other stages of life. It will help give us an idea of what to expect in the years to come. Lots going on in our little community!!!!

And what would be a post without some Evan footage!!! 

My silly little Santa!

 

Our Bizarre Stranger Encounter

Yesterday Evan had his monthly ENT appointment. These visits are crucial for us since I am obsessed with keeping his ears clean and free of skin debris. You can see in the video I posted, My World & Ichthyosis, that it is a never ending battle removing skin from his ears. Not only in those nooks and crannies but down his ear canal, up to his ear drum. There is an ENT office a few miles closer than Yale, cutting the round trip drive down to 100 miles. To top the morning off, it was snowing and raining. But the drive wasn't too bad, what happened in the waiting room was what made the trip weird.

Once we walked into the office, the waiting room was packed. It wasn't our typical appointment time so I wasn't surprised. Of course, as when we go to most places, everyone had to have a look at Evan. Most of the reactions or expressions on others faces were typical. A few of the 'eagerly trying to look again' folk too. I ignored it as I usually do with a smile. So I checked in and sat down rolling Evan's stroller up to me. He was directly facing another man, who ironically enough was one of the 'eager lookers'.

I grab a bottle and gave Evan a little drink. I talked to him and had him play with his teddy bear. I noticed the man next to us had his phone and was playing on it. Or I thought. All of a sudden I hear the snapshot of his phone camera. I jolted my head up and looked at him then instantly and obviously turned Evan's stroller in the opposite direction. It was instantly awkward but I didn't say anything. I looked around the room and with the way things were positioned and the way he was holding his phone, unless he took a picture of himself, it was of Evan. Really? People really do things like that? So weird. And if he did take a picture, what exactly would be he do with it? Show people he saw a red baby? I don't get it.

I am not the confrontational type of person but of course now I wish I said something. Luckily, I happened to be texting with Courtney (Brenna's Mom) and she was quick to defend us which made things less awkward for me in the waiting room. :-) Our doctor came right up to us to greet us and chatted with Evan before we went in. I was tempted to mention the situation in the waiting room to him but I didn't. And though it still bugs me, we move on because it unfortunately will probably not be the first or last bizarre encounter with a stranger. I want to teach Evan to stand up for himself but when necessary. I feel that killing others with kindness is a more appropriate way of dealing with awkward stranger encounters but obviously defending oneself when needed. I'm a 'glass is half full' type of gal and would rather keep things positive and try not to let insignificant things get to me. Apparently, I have a thick skin too.

And here is some Evan and Bruli cuteness!

Yes, I did it again!

 

Cute Stuff..

Here are a few super cute videos of Evan. In the first video he takes a few steps (with a little help from Mommy) and the other video is how Evan reacts to his crazy chocolate lab, Bruli. Both must sees! Also, I recently updated my page Cute Stuff. There you can find a bunch of photos of Evan, including progressional pictures of him from when he was first born. And 2 NEW pages!! POWERFUL POSTS and  VIDEOS. I made a page of links to all of my favorite posts and I organized a page of all of the videos I have posted on this blog. All the videos are linked to its original post. It's nice to look back on some of posts and videos and see how much Evan has developed in a short amount of time!

Showin off to our friends in Springfield!!!

Apparently, Bruli is hilarious!

 

Our Journey to Springfield

This past weekend my mother, Evan and I traveled to Springfield IL to visit a special family. I have been looking forward to this trip and could not wait to meet Courtney and the Westlake crew. Brenna, as I mentioned before, is almost 11 months old and also has Harlequin ichthyosis. So many things have seemed to connect us from the start. Obviously, both having a child with the same condition but also Courtney and I are the same age, our birthdays both fall on the 11th of the month AND her husband's name is EVAN!!! So cool!

We got off to an early start Friday morning, leaving my parents house at 3:45 am. Unfortunately we had a layover, but thankfully everything went smoothly. We arrived into St. Louis, MO at 9:30 am. (By the way, Evan was such a charmer on the plane. We had so many compliments on how well behaved he was and he was trying to give the man sitting next to us fist bumps!) We rented a car and headed to Springfield.

Once we got to the Westlake house we relaxed and talked and it felt so comfortable. Seeing Brenna was so exciting and Connor is absolutely adorable! Evan was due for a bath so I 'set up shop' in the kitchen as I chatted with Courtney about his bathing routine. Before we headed to Springfield, my husband and I worked really hard on Evan's skin so it would be easier for me to manage on my own while away from home. So I did not have to put in as much 'elbow grease' as I normally would. After his bath, I was able to see what their routine was with Brenna. I asked questions and was impressed with their set up as well. They got right down to business!

Before we went out to dinner for some Horseshoes we snapped a few pics of our freshly bathed cuties together. Evan was so interested in Brenna and kept trying to touch her face and hold her hand. I really feel like he knew that Brenna was just like him. It was sooo adorable. We were melting. :-)

So precious..

And if this one wasn't blurry... but absolutely adorable!

After dinner, my mom took Evan back to the hotel so I could spend some time with Courtney and Evan W. I couldn't tell if I was imposing and should have called it a night but I was so excited to be there and couldn't wait to talk some more. It was great to talk in person about our birth experiences and Courtney was nice enough to share lots of Brenna's birth pictures with me. Although, I knew Brenna's story and related to Courtney's birth experience, it was totally different hearing her story in person. 

Saturday we had an eventful day out on the town, or I should say city. Courtney was nice enough to do a little photo shoot of Evan at her studio. Then we stopped at a park to snap a few of me and Ev together. After our photo shoot we all headed out for lunch in downtown Springfield. It was a gorgeous day so after lunch we walked from the cafe to the museum. All of the buildings were so beautiful and historical. We then arrived at the Abraham Lincoln Presidential Museum which was incredible. It was great to relearn the history of Abe Lincoln and learn many new things as well. There was so much to see and many of the displays and exhibits made you feel like you were back in the 1800's. One very clever room was set up like a TV studio, recording the Presidential election campaign on a station similar to 'CNN'. Courtney and Evan stayed with my Evan so my mother and I could go into one of the exhibits that was not so baby friendly. It was a play/movie/presentation of Abe Lincoln which was very theatrical with gun shots, explosions, smoke, and vibrating seats. (So glad we didn't bring Evan in!)

Saturday night we snapped some more pics of the kids playing together. Evan was again very interested in Brenna, especially whichever toy she had in her hand. He was acting like that typical two year old who only wanted what he didn't have. And Brenna was doing some excellent reaching to try and get her toy back! Priceless!

Happy and content with a toy...

Wait a minute, what do you have Brenna?

Hey, Evan that's my toy!

And I'm gonna get it back!

Saturday night my mom took Evan back to the hotel again so us parents could go out for a drink. It was so great to have another evening where we could talk and relax without worrying about the kids. I was able to meet some friends of Courtney and Evan who were very nice. I felt as if I fit right in and knew all of these people my whole life. It was such an amazing weekend and I felt so comfortable with Courtney, her family and friends. Not only did we have such a connection prior to this visit but meeting them in person really made me feel like I had a new family. My husband was unable to come due to his work schedule so I cannot wait for him to be able to meet this family as well. We will definitely see them again at the FIRST Family Conference 2014 if not sooner. :-)

Thank you Courtney and Evan for a wonderful weekend. You both are amazing and are doing such a wonderful job raising your beautiful children. Connor is absolutely precious and Brenna is doing so well thanks to all of your great work. I would also like to thank Courtney for inspiring me to finally reach out to the Ichthyosis community. I have met life long friends who we will be forever connected to. She also inspired me to create this blog to help raise awareness for Evan and others. Courtney wrote a post about our visit as well and has some fantastic pictures that you should definitely check out! www.blessedbybrenna.com

 

One Happy Mama

I am sooooooo excited to announce that Evan has started moving forward in his pony-walker. He is still working on sitting, rolling, propping and crawling but has finally reacher his "Ah Ha" moment with the 'walking' part. Last night I recorded this video which was the the first time he took more than one step forward (for the past two weeks he has only moved backwards). Any movement is a major achievement for this little guy. I can definitely say that I am "One Happy Mama". Yay!

Love my lil guy

Off to finish up the hurricane prepping. Hoping the power doesn't go out but at least this year I am more prepared than last. Stay safe East Coast!

 

Raising Awareness for EB- Epidermolysis Bullosa

Epidermolysis Bullosa Awareness Week 

October 25-31

"Epidermolysis Bullosa (EB) is a rare genetic skin disease that causes the skin to be so fragile that the slightest friction can cause severe blistering—inside and outside the body. Today there is no cure. Severe forms of EB cause patients to live with constant pain and scarring. The worst forms of EB lead to eventual disfigurement, disability and often early death.There are many patients who are diagnosed with milder forms, which, while they can be extremely difficult to live with, are non-disfiguring and non-lethal.

The only treatment for EB is daily wound care and bandaging. The daily routine is a grueling, multi-faceted daily regimen. Caregivers, often parents or family members of EB children, must work in tandem with medical professionals to determine and administer different treatment methods to care for EB wounds.

With skin as fragile as a butterfly wing, EB patients are dubbed “Butterfly Children”. On the outside physical wounds prevent them from normal daily activities enjoyed by other children. On the inside, their dreams are the same as any child who loves, plays, learns and grows despite the pain and impediment caused by their disease. With the programs and services of Debra of America, EB’s Butterfly Children and their families find the support they so desperately need. Debra of America works to ensure that a life of struggle is also a life of hope for the 1 out of every 50,000 live births in the United States affected by EB." Learn more at www.debra.org

EB is pretty much the exact opposite of what Evan has. Evan's skin grows at an excessive rate and requires consistent exfoliation and moisturizing to prevent a tight crippling armor. The slightest friction to someone affected with EB can cause that skin to blister, leaving open painful wounds. It is a vicious skin condition that needs more advocates to help promote awareness.

I was oblivious to the variety and the severity of skin disorders and diseases that existed before Evan was born. A week after his birth, the National Geographic Channel aired the show Extraordinary Humans: Skin. The episode focussed on two individuals who were living with a severe, life threatening skin condition. My husband and I were anxious to see this show since one of the individuals was affected with Harlequin Ichthyosis (I wrote about that in an earlier post here). What a coincidence it was to gain this information so quickly after his birth. The timing could not have been more perfect. But the reason why I bring this up is because the other child interviewed on the show was a young boy with Epidermolysis Bullosa.

I was a bit overwhelmed after seeing what Harlequin Ichthyosis entailed. But once the next story began, my heart began to ache even more. I do remembering saying to my husband, after seeing what a child with a severe form of EB goes through, "Evan has it bad but it could be worse." Learning about these two skin conditions has opened my eyes to not take anything for granted. As much as I did not want my child to suffer with the many challenges he faced, I felt so empathetic for that child with EB. Having a slight idea of what Evan's skin care regimen would entail, I could not imagine spending hours bandaging and cleaning wounds which would endure an enormous amount of pain. To think the slightest touch could be devastating to their skin is heartbreaking; even a kiss or hug.

Fast forwarding about a year and a half, Facebook led me to a mother's story about her son Tripp. From a share of a share this story came up in my feed. Courtney's blog "EB"ing" a Mommy has touched me deeply. I began to read her story about a month before this precious boy went to heaven. She is such a wonderful mother and cared so much for her baby. There has never been a time where I read her blog and did't cry. It has made me truly appreciate everything I have in my life and has made me realize that these severe skin conditions need more awareness so a cure can be found.

EB needs a cure just as much as Ichthyosis does. But in my personal opinion, I hope they find one for EB first. The suffering these children and adults have to go through is horrible. Even when taken care of so gently and carefully, their skin is just too fragile. Those who have severe forms of EB have inner tissues that are just as delicate and require feeding tubes to avoid friction from chewing and swallowing. Everything about it seems so painful. As much as I want a cure for my baby, I know that right now he is happy and 'comfortable'. A cure for those affected with EB is essential. Any donation is a step closer to a cure. DONATE TO HELP CURE EB

Help educate yourself and others by sharing this post or any of the EB related sites in honor of Epidermolysis Bullosa Awareness Week. Here are a few sites, blogs, facebook pages and videos focussing on living with, caring for or educating others about EB.


(Debra) Dystrophic Epidermolysis Bullosa Reasearch Association of America- www.debra.org

EB Awareness- www.ebawareness.com or their Facebook page

I Refuse EB- http://irefuseeb.org or their Facebook page

Courtney and Tripp's story- "EB"ing a Mommy

Support Baby Easton- Support Baby Easton Friedel

The Butterfly Fund- Facebook Page

A video share I found on Support Baby Easton's Facebook page
Video Link



 

Evan's Skin

When people see Evan, many say that his skin looks great, including his Dermatologist. About 95% of the time they do not notice that he is scaly. There are many reasons for this and the number one reason for it, is his skin care. A few other reasons are that his scales are white and he does not have the most severe form of Harlequin Ichthyosis. I was told by one of his doctors that since they found his mutation at the end of the protein, it was likely, that it was a milder form of HI. And if the mutation was found in the beginning of the protein it would be a more severe case. (Don't quote me on that.. still have A LOT to learn in the genetics department.) Also, Evan was born at 30 weeks 5 days. I can't imagine how much MORE skin would grow if he was born 9 weeks later. He started receiving skin care when he was 31 weeks old. I see how much skin he grows in one day so I can't imagine another 9 weeks of untreated skin manipulating his features, digits or the tightness of his chest.

Things obviously happen for a reason. Evan fought and thrived through his NICU days and continues to thrive in his own way. Though, the help he has been given from his Mommy and Daddy are helping to contribute to his success (not to talk myself up or anything ;-p). Joe and I work very hard on skin care. We have been consistent with our routine and Evan has been cooperating, for the most part. We have been very, very, very lucky that he has not gotten a skin infection (knock on wood) and has only had two mild eye infections. Evan still tolerates the 40-60 minute baths with exception to exfoliation of his hands or feet. He will relax for the most part, play with a toy, splash his feet and hands, giggle, babble or sign along to songs. Once the hands are scrubbed he will fuss, whine or even scream. And once you let his hand go, he smiles and goes back to what he was doing. He'll react the same way when we scrub his feet. His hands and feet are very scaly (very scaly to me, is when I struggle to get it off since it is thicker than card stock). Not being able to properly exfoliate his hands or feet due to his intolerance allows for quick build up. We have been using Tazorac (topical skin retinoid which helps breakdown scale) on his palms and feet a few times a week when necessary.

Before a bath & not even that scaly

If I didn't have Joe, Evan's feet and hands would be even worse. Joe ignores the fussing and I help distract Evan so he can exfoliate these areas. Usually, Joe will not stop until his feet and hands are 'smooth'. We obviously will not let exfoliation really upset Evan. If he is actually crying we will stop to avoid making it a completely negative experience. Not only is Joe great during bath time he is a constant picker. He seems to have an addiction with peeling scale. There are obvious pieces that will come off easy with no harm. But there are pieces that I would not dare attempt and Joe does. Evan doesn't fuss because it probably feels good to get the tight & itchy 'flakes' off. This picking contributes enormously to the quality of his skin but does have its risks. Besides moisturizing, descaling is the next most important thing.

During a bath splashing away

We use A LOT of Aquaphor (healing ointment). We are fortunate that the company supplies us with 50% of what we use. It is amazing that this company helps those with Ichthyosis by providing a case every three months (read more about that here). When Evan was little, it was enough but now we will go through at least two cases every three months, which averages out to at least 2 jars a week. I can't imagine having to pay for all of that ourselves. Having that reliance from this company is a major relief. I use a lot of Aquaphor because it is the only thing that keeps his skin moist. If Evan's skin is left dry it could easily break, rip or tear leaving him susceptible to infection. Lotions are not effective for Evan. Seconds after putting it on was as if you never put anything on his skin. He sucks it up like a sponge and then its gone. So things are pretty sticky around here! Evan obviously likes the Aquaphor since he acts like goof ball during applications and diaper changes. It makes a mess and is hard to clean up but it is helping to keep my son alive so I can deal with the greasy clothes, toys, blankets and smudges around the house. But it will be interesting once he is motor!

After a bath chillin' out

The only time I let Evan get really dry, is before a bath. Trying to bathe him with a fresh coating of Aqauphor on is near impossible and a waste of time. Once he is dry and very flakey we are much more successful with exfoliation and he is able to easily soak up moisture. We are lucky that Evan has been so well behaved with baths and skin care and I hope he continues to be tolerant. I have been holding off on compound creams or other types of retinoids (which help with thick scaling) unless is it absolutely necessary. I cannot imagine Evan putting up with all of the scrubbing when he is at an age where he'd rather play. So when exfoliating or descaling is unsuccessful we do have options to help with it.

Being home with Evan has been a huge benefit for both of us. I am fortunate to be able to take care of Evan, participate in all of his therapies and be in control of his skin care and feedings. I feel most comfortable being responsible for his complete care. In less than a year he will be headed to preschool where he will receive his therapies. This stresses me out beyond belief. I know I will eventually have to let go and let someone else care for him. I just hope that when we make that step towards preschool he will be communicating better and will be moving around more on his own. We have a lot of goals to reach and achieve in the next 10 months and I am optimistic that we will succeed.


 

Continuous Support for Evan

This past weekend a good friend of ours ran the Hartford Half-Marathon in honor of Evan and to support the FIRST Foundation. We were able to go and support Leif as he accomplished this goal. Not only was it a very cold morning but it was an early morning for Evan since Leif had planned on making excellent time. Leif finished his 13 miler in 1:29:44. Wowzers! That is less than a 7 minute mile. Impressive.

Of course once Leif finished, we all headed straight for the beer garden. Granted it was only 10am, we had to celebrate Leif's amazing accomplishment. It was great to hang out for a bit and snap some pics while drinking our morning beverage. Good thing I ate breakfast! Leif even made his own shirt with Evan's picture on it which read "I ran in support of Evan and the FIRST Foundation". We are very proud of Leif and are very grateful that he has helped support FIRST. Thank you to everyone who supported Leif by giving donations for the FIRST Foundation. Every penny is a step closer to a cure.

Time to celebrate

 

Autumn Happenings

First big news: Evan got a pony walker. Yay!!! I am so excited that he has the opportunity to be mobile on top of getting a bit of independence for the first time in 2+ years. He still has a long way to go but getting his feet onto the floor is nothing but good for him. And to see his face light up as I help him step and walk is sooooo adorable. It is obvious that he enjoys it and he is starting to 'get it' already. It has only been one week since we got it and he is pushing backwards to move. I'll take anything at this point. He will learn to move forward with more practice.

I think he likes it

This past weekend was our bi-annual family wine crush. I married into a pretty cool family I must say! The wine crush is always a nice celebration where we get to eats lots of yummy food, listen to traditional Italian music and drink some home-made wine while makin' some. Evan's first wine crush was just about a month after he came home from the NICU. So it was one of the first real outings he went to. It was nice to see the how far he had come since his wee days. This year he had his little cousin Alison to entertain. It was great to see them interact. And of course we took plenty of pictures.

Wine Crush 2010

Wine Crush 2012

(Evan is actually sitting in Joe's arms. His legs are twice as long. 

And good thing Joe's mustache didn't last!)

Fall is my favorite season. I consider myself to be a bit of a 'leafer' or what some call 'leaf peeper'. Most people refer to 'leaf peepers' as the tourists and out-of-towners that come around this time of year to check out the foliage. I, on the other hand, consider myself to be a 'leafer' because I am obsessed with watching the foliage and taking pictures of it. I get so excited when I see a nice vibrant red or orange tree. I honestly need to pay more attention when driving instead of looking at all the nice color.

The start to some color 

Last year we got gipped on the foliage and Halloween. Thanks to Storm Alfred, we had almost 2ft of snow on the ground along with huge branches, trees and power lines. The storm pretty much knocked out the whole state for close to a week, more in some parts. The foliage, still on many of the trees, was the culprit; the trees couldn't handle the weight of the snow and ice. Not only did we have no power, water or heat but Halloween was approaching and it was taking a long time to restore power and clean up the damage. Most towns had to cancel Halloween and others rescheduled trick-or-treating to another night. (I was super bummed and I can't even go trick-or-treating anymore!)

Our backyard- Storm Alfred 2011

Our backyard- Storm Alfred 2011

I am very excited for Halloween this year. Finally, Evan is at a developmental stage where he can enjoy a hayride, pumpkin picking and maybe even a little trick-or-treating? (Ok, ok that would really be for me) When I dress Evan for Halloween, I haven't been crazy about putting him in an elaborate costume. I usually just stick to something comfy and easy on his skin. Once he is older the choice will obviously be left up to him. Evan's first Halloween he was dressed as Superman and during the blackout last year he wore his cowboy sleeper to bed.

Evan's 1st Halloween 2010

(gotta give props to Cassie for an excellent costume choice!)

I have many things to look forward to, the weeks following Halloween. For one, my husband won a trip to Puerto Rico!!!! It was pretty unexpected but no complaints here. Though I was extremely excited when I heard the news, it happened to be on the same weekend I already had a trip planned. And there was no way I would completely cancel this trip either. Luckily, I was able to reschedule it to the following weekend.

And where might I be going, you may ask? Well, Evan is finally going to meet a special friend, Brenna. We are heading out to Illinois to meet the Westlake family. I found Courtney's blog only a few weeks after Brenna was born. They were the first family that I reached out to in the Ichthyosis community. I felt willingly obligated to share my experiences, caring for a child with HI, to help their journey with Brenna. I am very much looking forward to meeting the whole Westlake clan. (one month count down today!)

The next few months are going to fly by. Before you know it, it will be Christmas and hopefully then, we will be celebrating Evan's accomplishment of sitting on his own. Lots of things to look forward to.



 

"Evan had Jenny's back" during the Chicago Marathon 2012

Our good friend Jenny ran the Chicago Marathon this past weekend, in honor of Evan. This is the second marathon that she has completed all because she was inspired by our boy. In a recent post, I wrote about Jenny and her dedication to our family and to Evan. From day one she has been very supportive and has done so many things to help our family and to raise awareness for Ichthyosis. We are very proud of her and wish we could have been there to cheer her on.

Jenny's FB photo captioned "Evan's got my back"

Prior to the marathon, Jenny wrote about her journey and inspiration to run on a private facebook page dedicated to Evan. Her complete story can be read on that facebook page. Below are portions of what she wrote. Her story in her own words...

"....During training for the Chicago marathon I got injured. The injuries were serious enough to actually make me stop running and schlep off to see a doctor (trust me, it takes a lot for me to ask for help). I sat there as the orthopedist did he tests and I tuned him out as he lectured me on the dangers of marathon running and strongly encouraged me to give up on training for Chicago and marathons all together, blah, blah, blabbity, blah, blah and focused on the one phrase he said at the very end, “but if you rest and go to physical therapy, you’ll be back running your stupid marathons.” He was right, the rest was what my body needed, but the timing couldn’t have been worse. I basically had to start training from scratch, in the middle of the summer with only 10 weeks to get my body into marathon shape. 

...I’m not going to lie, there were many times during my training runs that I walked and even where I just sat down and questioned why I was trying to accomplish such a lofty goal, but then I would think about Evan and his parents and a promise that I made to raise awareness and run in his honor. Evan’s condition is every single day...a training program that is so meticulous and requires the most patient, precise, loving care. ... two years later; this boy has defied all odds, surpassed all predictions and motivated so many people along the way. Evan and I share a similar quality that has connected us in a special way; we don’t know how to quit.

...The cards Evan and his family have been dealt are quite the hand, although being around them, you wouldn’t feel that way for a second. Evan’s infectious smile, heartwarming giggles, strength to live and eagerness to learn are so inspiring it kept me going strong all the way to the finish line. Joe and Diane have given up so much in their young lives to keep their son alive and more importantly, happy. This two year old boy has brought so much perspective and clarity to my life that I will forever be grateful. Because of him, I am a marathoner.

...Knowing Evan has opened doors for me to meet other kids with skin disorders like his and taught me how much appearances can be deceiving. Now, instead of questioning or judging others, I tend to wonder what their story is, what their day-to-day is like. I try to judge people less and simply smile more. I’m learning through these kids’ stories to focus less on appearances and more on being a good person, the kind of person that people want to be around, the kind of person that adds value to others' lives and hope that attitude becomes contagious among my peers. I find that I’m not afraid of correcting ignorant people and educating those that do not know any better. If more of us adopt this attitude, the world wouldn’t be such a scary place for kids like Evan to grow up in. 

...It is with great pride and vindication that I run (and COMPLETE) my second marathon in honor of such an amazing boy and family. Thank you again for providing me the platform to brag about a boy that has changed my outlook on life and made me a better person. The next time you see someone who might have a story like Evan’s, smile and thank the parents for such an amazing miracle, you will make their day and hopefully others will follow suit...
     -Jenny

Her words have touched me and make me proud to call her my friend. She is such an amazing woman. I feel incredibly honored to know that she has completed such an enormous accomplishment (for the second time) because she was inspired by my little miracle. Jenny has always had a special connection to Evan and I am very grateful for all of the support she has given to us. Thank you Jenny.

To think of how my child inspires others is an indescribable feeling. If I had to describe it, saying it's a feeling of joy and heartwarming gratefulness is an understatement. I am grateful that I have been given a child who essentially lights up others spirits. Who so far in his two years of life has been such a well behaved baby, tolerant to skin care & doctor appointments, is always in a pleasant mood and goes with the flow after all the challenges he is forced to live with. He is an amazing warrior and is not only an inspiration to others but is such an inspiration to me as well.

 

The Little Things...

I have to say that I love my life. I am very happy and am so grateful I'm able to stay home to take care of Evan. I have no desire to be a stay at home mom forever, I look forward to teaching once again. Once Evan is in school or at least verbally communicating, I will feel more comfortable with him being 'independent', from his mother anyway. I have been blessed with a loving and supportive family (both sides) and have some incredible friends to top it off. My husband is truly amazing. He works so hard for us and is making it possible for me to stay home right now. He is crazy about Evan and Evan is crazy about him. This amazing life would not be complete without my precious baby. He is the light of my life. He gives me my energy and makes me unbelievably happy. That's why I appreciate the little things since I am so fortunate for everyone and everything I have in my life.

These are just some of the little things I LOVE about my life:

      ~ Evan's smile. I literally am bursting with joy and love when I see his face light up with a smile.

      ~ Evan's laugh. It is hard not to laugh never mind grin when he giggles. And no matter the type of day I am having, his laughter always makes it so much better.

      ~ The way Evan looks at his Daddy. His eyes are especially mesmerizing as he admiringly glares at his Dad with nothing other than a happy face. I can feel Evan's energy change when Joe walks in the door at the end of the day. When Joe changes and puts Aquaphor on Evan, I can hear Evan's belly laugh coming from the changing room (on the second floor!). I feel like Im floating on a cloud to see the love Evan has for his Daddy.

      ~ When Evan giggles at Bruli. Bruli is always running around and acting crazy. After all, he is not much older than Evan. Funny enough, Evan loves Bruli's hyper intensity and feeds off of this silliness to be silly too. There isn't a time when Bruli is fetched a ball and Evan doesn't hysterically laugh and giggle.
     
      ~ The feeling I get when Joe pulls into the driveway. Totally serious! I feel like a kid on Christmas day when he gets home from work. I think it's cute that I still get butterflies when I see my husband after being away from him for the day.

      ~ When Nibby (our cat) comes running inside late at night. We live in a forest and there are all kinds of wild animals around. I get so nervous to let the cat out at night but he will do anything to get out and I mean anything (he'll scratch at the door, knock things off the table/counter, claw my needle point chair or mattress). So late at night when I finally try to get him back inside, I am elated when he comes spirinting in from the darkness. Nibby 365+; wild animals 0. And I hope we can keep it that way!

      ~When Evan naps. My break, which are becoming more scarce as he gets older. But when he does nap, it is such a relieving feeling. For one- he is saving calories and two- I get to put my feet up for a bit! 

      ~Saturday mornings. Having Joe home is awesome. It's kind of weird being home alone all day everyday with Evan. When the weekend rolls around I am so excited to have Joe around to hang out with and obviously help take care of Ev-Man. Evan usually gets a Daddy bath Saturday mornings which are a nice change after morning baths all week with Mommy.

      ~Shopping with Evan. Evan is very use to and comfortable in his car carrier for travel and in the grocery store. I LOVE to go grocery shopping and Evan is so good while we are out, that it makes the experience more enjoyable. He likes to look around and investigate the scene and will not let me put up the visor since it blocks his view. The stimulation is good for him and I tend to go to the same store so the employees remember us, well at least Evan. Shopping without him just doesn't feel right.

Precious moments like these are why I love my life so much