Monday, October 13, 2014

Good News

We did not win the "lottery"!!!!!! According to genetics, they did not find the gene which causes tuberous sclerosis in Vincenzo. Yay!!! Even though we are not out of the woods yet, this is a huge relief. And granted genetics are never 100%, this lightens the worry load for now! So in the meantime I will enjoy my babies with a little less worry! Evan keeps us on our toes as is!!!


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Friday, October 3, 2014

I Don't Want to Win the Lottery..

We have delt with our fair share of medical challenges with Evan. From a life long diagnosis and a two month NICU stay due to a premature birth including strict skin care regimens, blood transfusions and an emergency hernia surgery; it's enough to last me a lifetime of worry. It hasn't been easy but we have remained strong for Evan to get through the bumps along the way.

Evan's condition is rare. So rare, it's a -one in a million- type of occurrence. For Joe and I to both have this genetic mutation and then to pass it on through a recessive gene, is rare in itself. It would have been easier for us to win the Powerball but instead we won the "genetic mutation lottery". A lottery I was hoping to avoid with our second child. And as we avoided the harlequin "lottery". A new set of challenges have popped up with our newest bundle of joy.

Five days prior to his birth, my high risk doctors found a "mass" in the baby's heart. After seeing these doctors for 9 months (because of my preterm history) and receiving multiple ultrasounds and non-stress tests, I was very surprised this was happening. Well sort of. After everything that happened with Evan, I almost felt it was too good to be true to have a "normal" pregnancy. Yet what is normal when you have to have a surgery to remove your para-thryoid at 37 weeks pregnant? (A whole other story!) But when the doctors started focusing on the baby's heart, mine pretty much stopped. Why? WHY?!?! How could we be going through this again?  How could our baby be going through this? How could something be wrong???? I thought we were done with specialists and medical concerns for at least one of our children.

The day of Vincenzo's birth was still a very happy experience. Though there were still concerns and cardiology would be following him after birth, it was not traumatic like Evan's birth. It was a nice change to actually hear him cry and be able to see and touch him immediately following birth. Being able to touch him moments after was so new to me. His skin was so soft and he was so happy to be snuggled up next to my cheek. Though he did head right to the NICU after he got his kisses from me and my husband. The NICU, an all too familiar place. A place where he was monitored the first day of his life receiving an EKG and heart ultrasound. A place where he was being cared for by the very same nurses and doctors his big brother had. A place I never thought we would step foot in again.

After lots of tests and doctors visiting the baby, they decided to test him for tuberous sclerosis. A genetic condition that occurs spontaneously. This condition causes benign tumors to grow in different organs, primarily the heart, brain, kidneys and eyes. These tumors can causes issues depending upon where they are found. Testing for this is just the first step in trying to figure out what is going on. As of right now the "tumor" in Vincenzo's heart is not causing any issues. While in the hospital he received a brain MRI and kidney ultrasound to check for any abnormalities, all to which came back normal. We are hoping that he does not have this disorder and the mass they found is a random one time thing that will dissipate on its own.

For both of my children to have two different random genetic mutations makes me feel like we won some sort of genetic mutation lottery. I am hoping it is not the case with Vincenzo. We have enough on our plate as is and it is hard enough to see one of our children have to deal with lifelong medical challenges. I cannot imagine both of them having to. Let's hope we don't win this lottery.




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Tuesday, September 30, 2014

Dear Evan

A week after Evan was born National Geographic aired the show Extraordinary Humans: Skin. The show followed two young adults living with rare skin disorders, one being Harlequin Ichthyosis. It was amazing to me that a week after Evan was born, after hearing the words "Harlequin Ichthyosis" for the first time in my life, there was an episode detailing the disorder. It documented a young woman affected, Hunter. This was the first time I had heard about Hunter and I was so intrigued to see how she lived her life in a positive light. The show answered many of our questions and we were able to see that it was possible to live a normal life with this disorder.

Hunter is a huge advocate for Ichthyosis Awareness. She recently was on the Katie Couric Show explaining this disorder and what it is like living with it. She has always been a huge motivation for us and for Evan. It wasn't until this past summer that we were able to meet Hunter. I was excited as this was the first time meeting her in person. Though I had never met her before, I felt like I had known her forever. Evan took to Hunter right away too. He seems to be aware that Hunter is just like him. We had a lovely time visiting with her and I am so glad we had the opportunity to meet in person.



I asked Hunter if she had any advice for Evan as he got older knowing she had experienced quite a lot in her life. This is what Hunter had written to Evan:


Over the course of my life thus far, I have come to a number of useful conclusions. Here is advice I have for Evan as he grows!

Dear Evan,
First things first, you are a wonderful person who possesses unbelievable love for people! Never lose it! Sometimes this world can make you forget how valuable you are. You are valuable and loved! There have been so many instances where I forgot the support that I have around me. You will always have people in your corner!
            Be prepared to advocate! A big part of being as special as you are is being able and willing to tell other people about yourself. Remember that most people have never seen a person with Harlequin Ichthyosis before. You don’t have to tell them anything, it is your choice, but I have learned from experience that being more open with people will draw people to you. If you are unafraid to speak up and be you, other people will draw on that strength. I know it is not always easy or pleasant. It takes a great deal of patience and understanding but believe me when I say it is worth it.
            Sometimes though, people won’t be so receptive of who you are. People can be cruel. There were many times that I have been singled out for being different and made to feel ashamed for it. Be aware that some people will do this. However, not everyone is like that. The majority of people you will run into will be willing to at least attempt to understand you. Whatever you do, never assume the worst in a person. There is always more to the story than what you are experiencing.
            Don’t be afraid to stand up for yourself! When you do encounter someone who treats you unkindly, don’t be afraid to stand your ground! This goes back to what I said earlier, do not let them tell you that you do not have value because of your skin. Your skin makes you uniquely you, people who ostracize you for it will never understand that. At the same time though, do not let your skin become you.
            I know that sounds strange but trust me, it can happen. When I say not to let your skin become you, I mean do not let it dictate who you are and what you choose to do. You will have to work around it sometimes, but working around it is not the same as letting it make your choices for you.
            Life is not always easy but it is always rewarding! For as much crap that happens, there will always be a light at the end of the tunnel! Do not give up! Perseverance is a trait that people admire and attempt to emulate. Not giving in will not always be easy but you will earn the respect of those around you. You deserve that respect! It is a reflection of your strength!
            You are awesome and I will always be here for you! I cannot wait to see the kind of person you grow into!

                        Your Friend,
                                    Hunter Steinitz



Here is the video of Hunter on The Katie Couric Show




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Friday, September 19, 2014

Family of Four

Evan is a BIG BROTHER!!!


Vincenzo was born on August 27th and we have been loving on him for the past few weeks! Evan is delighted to be a big brother and is adapting well. He loves to "hold" the baby and loves to give him kisses. He comforts the baby when he cries and says "Don't cry baby, its ok." We are happy and so glad our family is complete.

Obviously life with a newborn and 4 year old is busy, busy, busy!! Ill be sure to do my best to keep up with the blog when we have our routine set!! I'll be adding pictures to Evan's Instagram account more often so check them out!!




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Thursday, July 24, 2014

Summertime

We have been pretty busy so far this summer. Though we have a love/hate relationship with the weather and high temps, we try not to let it hold us back from doing activities outdoors. Obviously on the brutally hot and humid days, I try to find new activities to do indoors. We have been managing well so far and the weather hasn't been too much of an issue... YET.

FIRST National Family Conference
Evan started his summer break with a trip to Indianapolis to the FIRST National Family Conference. It is held every 2 years and this was our first time attending. My sister in-law joined us since my husband was unable to attend. We had a marvelous time and met some wonderful families. Some families I "knew" from the internet but finally had the chance to meet for the first time, some brand new faces and some friends we have known for a few years which we connected with once again.

Spending time with our buddies

Evan spent the days in a kids camp with other affected and non affected children his age. He loved it! Every time I dropped him off he was instantly busy in some sort of activity they had set for the children. And I heard through the grapevine that he was basically one of the only kids that didn't cry. No shocker there! While Evan was at camp my sister in-law and I attended different sessions that ranged from genetics, to current research, to skin and social tips. All were beneficial and I look forward to attending again in 2 years.

Evan with his friends Hunter and Lauren
(Hunter was recently on the Katie Couric Show raising awareness. Check it out HERE)

Evan and his buddy Brenna

The last night they held a dinner dance party which the children just loved. Evan was anxious to be on the dance floor with the other children and thank the lord for my sister in-law who walked around with him and helped him dance! My pregnant belly makes it hard for me to do! We were able to snap lots of pictures of Evan and his buddies. And we also had the wonderful oppotunity to meet Rick Guidotti, a former fashion photographer who now advocates while photographing those with genetic differences (learn more about Positive Exposure HERE). He was kind enough to photograph Evan as well as photographing Evan with all of the children and adults affected with Harlequin Ichthyosis.

Groovin' on the dance floor with Auntie

Hugging his pal Calvin goodbye


Evan's first trip to the Zoo
We like to plan things out for perfect weather days, so when we saw the temps and humididty would be low we headed for the zoo. We went to the Beardsley Zoo, about an hour from home, which is not terribly huge but just the perfect size to get the zoo experience and see some monkeys. Evan was delighted to see a range of animals and seemed most excited about the leopard who was pacing around in her den. It was a nice family outing and I look forward for new ones in the future.

Checking out the animals with Daddy


A visit from Mickey Mouse
Evan just loves anything Mickey. He is obsessed with the show, can't get enough snuggles with his stuffed animals and never gets sick of reading the Mickey Mouse books over and over. My father in-law has a friend who is a big collector of Mickey items. He also happens to have a real Mickey costume which he has been wanting to show Evan. Luckily we were able to plan a day for "Mickey" to come visit and Evan was just ecstatic! He could not get enough of the "big Mickey" that was standing in his living room. It was a precious memory I will never forget!




Fishing with Daddy
Joe is big into fishing so it is no surprise he wants Evan to learn how to fish too. We live in a lake community so we have access to fishing any time of the year (yes even in the winter!). We brought Evan down to the lake one evening to try and catch the "big one". Our first attempt was not successful but at first you don't succeed.... Another evening we headed down again, this time a bit more prepared. Joe would help Evan cast the line and Evan would reel it in on his own. We started getting a bite and the fish was able to steal the bait a few times. Of course on our last cast with our last bait Evan hoooked one! I think Joe was more excited than anyone! It was another memorable moment of a dad and his boy fishing.. a baby small mouth bass too!



His first "lunker"


Summer School
As much as summer time usually does not involve school, Evan receives services during a summer program. He couldn't be happier! He goes 3 days a week for 3 hours and is such a happy camper to see the bus back in the driveway. He waves and says, "Hi school bus, my school bus!" every morning with a happy squeal in is voice. He waves goodbye to me with a big smile on his face ready for the day.

Parachute fun at school


Excited for the baby
We are coming down the home stretch and Evan's little brother should be arriving in a month or so. We constantly talk about the baby with Evan which he gets very excited about. Every time we come upstairs he insists on going to see the "baby's bed". We go into the nursery and Evan explores the room opening every dresser drawer. He seems delighted about the idea of a new baby so I am anxoious to see how he will react when the baby comes and is part of the family. Evan is such a happy well behaved boy that I have a feeling he will adjust well.

Already lovin' on his brother

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Thursday, June 12, 2014

Evan is FOUR YEARS OLD!!!

We celebrated Evan's 4th Birthday on Monday and had a birthday party for him last weekend. It is quite amazing how time flies and how my little man not only turned 4 but is finishing his first year at preschool. Wow, has he come a long way! The important things in life such as happiness really make our lives complete. This child is literally the happiest kid I know and it melts my heart to know that he is clearly enjoying his life.

Things were so uncertain the day he was born. Though I was certain he'd survive, I wasn't sure of how life was going to be for him. Now it's obvious that things are going well. He is improving (developmentally) everyday with speech, gross motor and fine motor abilities, his skin care is consistent and our normal which has kept him infection free (knocking on wood) and he is so happy, silly and playful like any other toddler I know. His pleasant and joyful disposition makes me think his little brother-in-brewing is going to give me a run for my money!

Happy Birthday to my special warrior. You have proven yourself to be a fighter and I know you will go far in life. Keep smiling sweet boy!



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Mickey Mouse Birthday Party!




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Tuesday, May 27, 2014

A Visit from Carly

During Evan's first Spring Break, we had a very special guest stay with us. Carly, author of Tune Into Radio Carly, came to stay with us for a few days. Carly is from Australia and was traveling through the States and stopped for a visit in our neck of the woods. I met Carly online, through Ichthyosis support groups. Carly is affected with the Netherton form of Ichthyosis. We started our friendship through social media; comments on posts or pictures which led to conversations through messaging. In 2012, Carly was planning a trip to the States and was making a stop in NYC. I asked her if we would be able to meet for dinner and she kindly made time to meet me. I was lucky enough to even meet her mother as well! We had a lovely time and our friendship blossomed from there.

When Carly mentioned that she was planning another trip to the States this year, I jumped at the opportunity to offer my home to her. Fortunately she was able to fit a visit in to come see us. We had a lovely time. It was the first time she was able to meet Evan (as I did not bring him into the city to meet her a few years ago). Evan was just delighted and took to Carly instantly. Every morning when he woke up he would say "Where's Carly?" and point to the gifts she brought him from Australia.


We enjoyed our days chatting and laughing. We were able to meet up with a few ladies from the FIRST Foundation for lunch which was so great. I'm glad we were able to arrange a time to see them as I know they were anxious to meet Carly as well. Carly even tried out our MicroSilk tub while she was here. I was curious to get an adult's perspective on how effective it was on the skin and she seemed to like it. The days she was here were so enjoyable and I had such a lovely time hosting her. She pretty much got the whole New England weather experience too. One day was warm and sunny, the next cold and rainy and it even snowed a few inches on the last night she was here!  I cannot wait for another visit with her. Though it's my turn to head to the land down under!



Be sure to keep up with Carly's blog this month as she also celebrates Ichthyosis Awareness Month. Each day she is featuring a story written by someone who is affected or a parent of a child affected by Ichthyosis. Such a great way to raise awareness and learn more about this life long condition.

Carly featured our story last week you can read it HERE!!