Monday, December 31, 2012

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.


Wednesday, December 26, 2012

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

Trisomy 18-
    In honor of two miracles I personally know who are affected by Trisomy 18

    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!!!


Monday, December 17, 2012


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..

Friday, December 14, 2012

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!!!!!!!


Sunday, December 9, 2012

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.





Monday, December 3, 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!