Thursday, January 22, 2015

Throwback Thursday: Evan Hand-Me-Downs

Enjoy some cute pics of Evan when he was a baby. And Vincenzo wearing the same outfit years later!!! :-) Time is flying on by!!!

Evan 16 months  - Vin 4 months
I LOVE this sleeper! It's a Life is Good piece which says "Bee Happy". 
I had to save this one even though it got its fair share of Aquaphor.
(FYI- Evan just started eating yogurt and had a cute yogurt stache)

Evan 10 months - Vin 2 months
This hand-me-down was actually given to Evan from his Daddy! 
It is an outfit that the boys' great grandparents got when they were in Spain many years ago. 
Unfortunately we cannot find a picture of their Daddy wearing it. Maybe it'll pop up someday.

Evan 7 months - Vin 3 months
This onesie was definitely a keeper! Without a doubt their Daddy is their hero. 
Evan wore this countless times and Vincenzo probably wore it twice.
 Oh and Evan can still sit in the Bumbo and get out of it with no problems. 
The Bumbo goes with Vin as his chunky thighs get stuck in it!

And speaking of hand-me-downs, here is a video clip of Vincenzo getting kisses from Bruli in Evan's old jumper just as Evan did years ago!! This dog is a love-bug!

Kisses for Vincenzo
January 2015

Kisses for Evan 
March 2012


Monday, January 19, 2015

Why I Hate and Don't Hate Ichthyosis

The life I live would not be a life at all, if ichthyosis was not a part of it. Evan is my life. (And now, his little brother too). And though ichthyosis comes with some characteristics that I without a doubt, hate, there are many reasons why I do not hate it as well.

I hate ichthyosis because it almost took my son's life.
     Watching my child cling to life in an isolette when he should have been in my belly, was a very scary feeling. Knowing this condition was at it's most crucial and life threatening state upon birth, was terrifying. I will never forgive "ichthyosis" for giving me those feelings.

I hate ichthyosis because it jeopardizes my son's health everyday.
     We have obviously gotten a hold on things over the years with skin management, feedings, hydration, body temperature, surgeries and infections. I have to admit we have been pretty darn lucky but the fact that that can change very easily, is yet again terrifying.

I hate ichthyosis because it will force Evan to be put in awkward situations because of rude and ignorant people.
     Luckily we haven't run into too many horrible souls in Evan's lifetime. The worst that stick out in my mind was the time I thought someone took a picture of him or the time at Target when a mom (who was thinking she was being a great mom) 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.


Saturday, January 3, 2015

Neurology Visit

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

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

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

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

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

Now please enjoy the cutest video ever!