Rare Disease Day 2013: Rare Disorders Without Borders

Today is Rare Disease Day. Rare Disease Day is an international day of recognition for those affected by a rare disease. It is a day to raise awareness, connect with others and help support organizations who help fund research for rare diseases. As you know I am a huge supporter of the FIRST Foundation and Ichthyosis Awareness. But today is a day to recognize more than just Ichthyosis (there is a whole month dedicated to that!). It is a day to recognize all individuals living with or caring for someone with a rare disease.

My goal this year for rare disease day is not only to raise awareness for Ichthyosis but help raise awareness for other rare diseases. I also plan on educating myself today by reading other shared stories on Rare Disease Day's website or facebook page. I cannot expect to want everyone to learn about Ichthyosis and not practice what I preach without learning about other rare disorders as well. Below is the official video for Rare Disease Day: Rare Disorders Without Borders. (I personally LOVE 2012's video and included that too).

Rare Disease Day's Official Video 2013

There are a few rare diseases that affect my life personally and the lives of people I know. They range from skin, to muscle, to physical, to heart, to neurological challeneges. One rare disease, in particular that deserves awareness is another skin disorder, Epidermolysis Bullosa. I could never imagine living with or caring for someone with it. It is a devastating disease in which the skin is so fragile it blisters with the slightest friction. These blisters pop leaving open wounds which are susceptible to infection. Bandaging is required to keep the wounds clean and to protect the skin which many insurance companies will not cover. It is as meticulous Ichthyosis if not MORE. Those with very severe forms also have very sensitive mucus membranes and tissues inside their bodies. This causes deterioration from friction and tube feedings are required. Those affected with the severest forms are given the life expectancy of maybe 2 years. To learn more or help support research for a cure go to: The Dystrophic Epidermolysis Bullosa Research Association (DebRA) or I Refuse EB.

Another rare disease which affects a family I know, is called Duchenne Muscular Dystrophy. This disorder is genetic and is a progression of muscle deterioration. It is caused by the absence of protein which keeps muscles intact. This progressional disease primarily affects boys. A huge concern regarding this disorder is how it can affect the heart. Management of this disorder include braces, standing frames or wheelchairs as the body looses its strength due to the muscle deterioration. Cardiac care and respiratory care are extremely important as well as extensive physical and occupational therapy. Life expectancy for those affected was late teens, until recently, many cases survived into their 30's and even 40's and 50's. To learn more click HERE.

Trisomy 18 is yet another rare disorder. It  is caused by an error in cell division with symptoms that range from heart defects to developmental delays or nuerological issues. Not only is this disorder associated with severe developmental delays, many affected also have other medical complications which are life threatening. This disorder tends to affect boys but is not uncommon to affect a girl. Intensive Care is required at birth and according to Trisomy18.org less than 10% of of the babies discharged from the hospital will survive their first birthday.

Evan and his buddy (affected by Trisomy 18 and currently 3 1/2 years old!!!!!)

Here are some FACTS about rare diseases;

-There are approximately 7000 different types of rare diseases and disorders, with more being discovered each day.

-If all the people with rare diseases lived in one country, it would be the world's 3rd most populous country.

-In the United States, a condition is considered "rare" if it affects fewer than 200,000 people, in the United Kingdom a disease is considered rare if it affects fewer than 50,000 citizens per disease.

-80% of rare diseases are genetic in origin and thus are present throughout a person's life even if the symptoms do not immediately appear.

-30% of children with a rare disease will not live to see their 5th Birthday.

-350 million people globally are fighting rare diseases.

-According to the Kakkis EveryLife Foundation, 95% of rare disease have not one single approved drug treatment.

-Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Rare Disease Day is an important day for recognition of those living with a rare disease. Just reading the facts above send shivers down my spine. As rare as Ichthyosis is, we are very lucky to have the FIRST Foundation and current research looking for better treatments and a cure. But we have treatments. Some do not have treatments, some rare diseases do not even have foundations supporting research. So as much as I would like to promote Ichthyosis today, it really is a day to bring awareness to the rare diseases who do not have the proper treatments or any for that matter. Thanks to Rare Disease Day and The Global Genes Project they are trying to make it possible to help fund research for treatments and therapies by raising awareness and creating hope for all affected.

Rare Disease Day 2012 Official Video (My personal favorite!!!)

 

Raising Awareness for Rare Disease Day 2013: My First Moments

Last year for Rare Disease Day, I wrote about caring for my child with HI. This year instead of repeating the same story, I decided to write about my first moments; hearing the word, the diagnosis, Harlequin Ichthyosis for the first time. Harlequin Ichthyosis is the most severe type of Ichthyosis and there are maybe 100 people in the world living with it. Not only are there very few people living with this condition but only about 56% of the affected babies survive the neonatal period (according to US National Library of Medicine). The oldest living survivor is 29 years old. Until recent years this condition was usually fatal due to infection or respiratory problems. Thanks to modern medicine and continued research for Harlequin Ichthyosis, most infants will survive if given the appropriate and immediate neonatal care. Learn more about Ichthyosis HERE. Learn more about Rare Disease Day HERE.


Yale Labor and Delivery Unit:
June 7, 2010
Day 1:
30 weeks 3 days gestation

Ichthyosis was a word I never heard until the night of June 7th 2010. Not only Ichthyosis but Harlequin Ichthyosis. I tried to warp my head around it as I looked down at my pregnant belly. I had multiple machines hooked up to me and all sorts of IV bags and drips going. Our doctors handed us a piece of paper and this is pretty much what the it read, with only the illustration visible. Worst case scenario they said. For three weeks we were not getting an answer to what was "wrong" with all of my ultrasounds (what was "wrong" was that they could not see Evan's profile and his hands were always clenched). And now a paper is handed to me, FINALLY telling me what is going on. I was confused, disoriented, and exhausted from 12 hrs of contractions, being poked and prodded at and in a hospital for the first time. But I tried to remain stress free and optimistic for my unborn child. My husband, not taking the news well, was a mess. We told our family, who had the opportunity to research it. But we still 'wouldn't know for sure' what was going on until our baby was born. Heartbroken but not showing it, I pretty much ignored what the doctors told me. Since they couldn't tell me 100% until the baby was born, I would not give up the hope that everything would be ok.

June 8, 2010
Day 2:
30 weeks 4 days gestation

After an exhausting night of no eating, drinking, a very bad reaction to the medication I was receiving and hearing a possible diagnosis for our child, I was ready for a good day. At 30 weeks prego, they were trying to keep me pregnant for at least another month or so. The nurse came in with another gigantic shot of steroids, which now I knew what is was, after getting one the previous morning. I remember saying to her, "Do you really have to?" She replied with a smile, "Yes, it's for the baby." I said, "I know, it's for the baby." I did not feel pretty let me tell you, ouch! There was good news that morning. My contractions regulated and slowed down so I was being sent to the High Risk Unit, where I was finally going to eat something for the first time in 24 hours!!! I do remember being pretty cranky since they wouldn't let me eat or drink.

Day 2: Trying to nap

Talking about the diagnosis that day is still a blur to me. Either I chose not to discuss it to prevent me from getting emotional or stressed or the shock of it put me in a daze. It is very vague to me. I think that since I was so happy to eat, nothing mattered to me at that moment. I don't remember looking it up on the internet, looking at pictures, or researching it at all really. I only remember hearing that most cases resulted in death which I obviously wouldn't believe nor accept. There were all types of doctors and consolers in and out all day. They told me they were organizing a meeting for the next day, with a team of doctors, to discuss the diagnosis. Things calmed down so Joe headed home to grab some clothes and get the dog and cat situated. My mother stayed with me until my husband returned and headed home knowing she would be back the next day for the 'big meeting'.

June 9, 2010
Day 3:
30 weeks 5 days gestation

Contractions started up quick and steady around 2 am. I refused to tell the nurse so I wouldn't be cut off of food and water. Good ol' technology blew my cover and I was back to 'sporadic sips' of ice water. The baby was breech so a c-section was the only possible birth plan until he turned. The day was long and uncomfortable now feeling much stronger steady contractions. The 'big meeting' was still planned for about 5pm. And the high risk doctors were trying to get my contractions to slow down so I wouldn't have to be sent back to the Labor Unit.

Things got pretty hectic, pretty quick as a second amniocentesis put me into active labor, dilating 7cm in 20 minutes. The purpose of the second amnio was to check for infection and remove fluid since it was thought to reduce contractions. Coincidence, ironic or meant to be, I don't really know but I was rushed off for surgery for the birth of our child. It was confirmed in the OR that Evan did appear to have Harlequin, though we did not see him or hear him cry (he did cry when he was rushed into his room before intubation, thank you steroids!!). And through all of this commotion, Evan was born at 4:56 pm, four minutes before our meeting was suppose to start, with all of his doctors already present and waiting in the hospital.

The meeting, for obvious reasons, was postponed until about 8:00 or so. After my recovery from surgery, the doctors filled my room. Our Dermatologist spoke first and asked if I had any questions. Still incredibly confused and overwhelmed, the first thing I asked was, "What about a cat and dog?" Which he assured me wouldn't be an issue. The meds and shock of my child's birth consumed me. My parents and husband's parents were in attendance during this meeting. Though incredibly hazy to me, I remember there being so many people, doctors and nurses in the room that there was not one more spot to stand. I was spoken to from a variety of specialists and to this day can only remember asking our dermatologist that one question.

Time seemed to fly by. We then went to meet our baby in the NICU and they rolled my bed right up next to him.  His eyes were covered and moistened since they were swollen and extraverted. His mouth and lips were stretched open, swollen, puffy and blood red (from what you can see other than the breathing tube). He had deep, bloody fissures surrounding his entire diaper area and at every joint. His hands and feet were restricted and clenched. I was at least relieved to watch his belly go up and down. At first, I did not want to know anything about Harlequin Ichthyosis when they gave us the diagnosis. But obviously, now, I needed to educate myself about it.

I'll admit I was very sad. I expected to hold my baby once he was born. I expected to touch and kiss him. Instead, I looked at him through a plastic window. I couldn't touch him, I couldn't kiss him and I couldn't even see him with all the wires, tubes, cloth coverings and dressings hiding his features. I wondered what he would look like without his thick armor of skin. I wondered what his eyes would look like or if he'd ever open them. I wondered if he would get to live a "normal" life. In this moment things were still so uncertain. Not to mention his 9 week early delivery date, we had so many premature issues to worry about on top of his skin issues. I wanted to cry, I wanted to sob but I would not let Evan know that I was scared or devastated about the situation. I remained positive so he could feel my energy and so he'd know that I would not give up hope that he would survive.

Yale Newborn Special Care Unit
June 9th to August 7th 2010

The education, experience and expert knowledge about Ichthyosis was overflowing at Yale, which Evan benefitted from greatly. It is not typical to have the experts at your fingertips for such a rare disease. Never mind diagnosing such a rare disease prior to birth. We we fortunate to have had the expert dermatologists, neonatologist and nurses taking care of our boy. Not only did we have the expert clinical information about Ichthyosis but we had more personal experiences and knowledge about it, that filled the NICU. A woman who we miss dearly and owe so much thanks to, took care of a collodian baby in her earlier years of nursing. She answered so many of our preemie questions, skin questions, long term questions. She was so valuable to us and was so connected to Evan. Another woman who worked in the NICU had a niece with Ichthyosis. A different type, but she told us about their bath routines and skin care treatments. She was the first person to mention the Aqauphor program to us, before Evan ever left the hospital.

Since my intense surgery was unexpected, I spent a week in the hospital recovering. That week was the week I really grew up. A week we sat with uncountable doctors and discussed Evan's status, goals, risks and expectations. A week where I visited my brand new baby in the NICU, in a humidfied isollete, on a breathing tube, hooked up through umbilical lines for fluids, meds and blood. A week where I changed my first diaper, completed my first aquaphor application and even helped hold a suriynge to feed him less than 5 ml of breast milk. A week when I finally knew why I had a purpose on this planet.

Finally going home

8-7-10

Present Day:

Evan's skin care regimen is pretty much the same as it has been since he was born. We still put Aqauphor on him, head to toe, at least 5-6 times a day. He gets two baths less often now, unless he is super scaly or extremely dry. Now, since he is bigger, he goes through A LOT more aquaphor. The past year we moved into our first home and now have a special tub that I feel helps Evan's skin maintenance immensely. The MicroSilk tub emits millions of tiny bubbles that essential clean out your pores and deliver oxygen to your skin. For Evan, these bubbles get underneath his scales and help lift them off his body. We do a lot less rough exfoliation when in the MicroSilk and never had to use baking soda in this type of bath.

Evan is still behind developmentally. He is getting close to sitting on his own and will for 20-30 seconds at a time. He still neglects to put his hands down to prevent himself from tipping over. Evan doesn't mind tummy time but will only hold himself up for a few seconds at a time. He has mastered rolling from his belly to his back (to get out of tummy time). Evan stands for longer periods of time with less support. He uses a pony-walker and is able to move around the house, though he uses it more as a ride and is sitting as he pulls himself. His mind is a sponge and he is learning things very quickly. He knows his body parts, all kinds of animals, toys, routines and actions but just has trouble verbally asking for things. He tries very, very hard to say what he wants or needs and tries to mimic any sound or word he's asked to speak. At 2 1/2 years old he is still behind but doing amazing.

Trying to work the TV

Ichthyosis, a word, a disorder, I never knew existed which now has completely changed my life and the life I had envisioned for my child. Something that I knew absolutely nothing about but now encompasses my entire life. Harlequin Ichthyosis did not affect my life until we heard the news in that operating room. I would not give up the hope that the experts could be wrong. Until I heard that news, it was not something I was ready to learn about. Now, it is something I know more about than anything else I have ever learned. Something I need to know so much about in order to keep my son alive and comfortable. Ichthyosis, a disorder in which I will never stop raising awareness for.

Learn more at:
Foundation for Ichthyosis and Related Skin Types

Rare Disease Day 2013

 

UPDATES: T-Shirts, T-Shirt Winners & Rare Disease Day

-T-Shirts have arrived!!!! For those of you who already "pre-ordered", an email will be sent to you with a Paypal link for payment. If you are interested in purchasing a shirt, please do! Sizes and colors are running out so make sure you get yours before they are gone! But in reality, if they are all gone that would be fantastic for FIRST!!! Small shirts are sold out. Blue shirts are very low. HERE is more info for purchases.

-I posted a few weeks ago about giving out a FREE SHIRT in a raffle for those who have helped support FIRST in the past year through fundraising events, inspired by Evan.  Well, I picked names out of a hat and here are the following winners!!! Each winner receives one free shirt (what is available).

Congratulations:

Cheryl B. from Illinois

Nicky G's Wine and Spirits from Torrington, CT

Rob H. from PEI, Canada

Watertown Meat Center from Watertown, CT

Email me dede583@hotmail.com to arrange for shirt drop off or mail delivery!!

-Rare Disease Day is just around the corner. On February 28th, Rare Disease will be celebrated around the world. It is a day to bring awareness to rare diseases in hopes to find better treatments or cures, one day. Some rare diseases have no treatments or are very hard to diagnose. We are very lucky to have had doctors that not only knew what Ichthyosis was but were the experts on it. A friend in the Ichthyosis community is hosting an event to support FIRST and Ichthyosis awareness. 'Wear that you Care' will be celebrated on Rare Disease Day as we all participate by wearing 'Genes for Jeans' (also supporting the Global Genes Project). Anyone can participate! Wear your denim on February 28th and help support rare diseases.

 

What is Most Important?

I had a "moment" last week where I was a bit bummed about Evan's development. Luckily these moments don't last long at all, not even hours. I remember posting before Christmas hoping that Evan would be sitting by the holidays; giving me that perfect Christmas gift. Well, we are still working on independent sitting but getting very close. As much as I wish he was more motor, I really cannot complain AT ALL. I feel a bit guilty that I put up a Facebook status saying how bummed I was about Evan's delays. I have friends who have children with special needs, some who may never sit independently and here I am complaining about how long it is taking Evan. I apologize for my lack of empathy in that "moment".

My frustration is from the unknown. Not knowing when he will sit, not knowing why he struggles with it, not knowing why it is so hard for him, to the point you can hear him huffing and puffing, and then why some other children affected with Harlequin Ichthyosis did not struggle as much as Evan has been with gross motor skills. Yes, he was preemie and weighed less than 4lbs at birth but we are going on 3 years old and no one can tell me why he is still so far behind.

We have done "all" the tests and seen "all" of the doctors. From Neurology and MRIs to Gastroenterology, dietitians, naturopaths and blood work. We have some type of therapy everyday, physical, occupational, speech or developmental. Physical therapy sessions are twice a week and Aqua-therapy sessions are twice a month. On top of all the therapy, I work with Evan on our "off time" with sitting, standing, walking, rolling and "crawling". I have been back and forth blaming HI for his delays, then his preemie status and then his diet.

I am shocked, amazed and thankful that we have avoided a tube. Some think it may have helped with his physical development but I disagree. Evan was gaining weight just fine, for a child with HI, until he was about 1 1/2 years old but was still incredibly behind in development. Ironically enough around the same time he actually started to do more physically, his weight gain was not as significant. It is hard to tell if his nutrition affected his physical development completely because if he was so malnourished to the point it dramatically affected his physical abilities then how could his brain develop to age appropriate cognition. The thing is, Evan is strong enough to walk, sit and stand. He just struggles with connections, always has, which seems to be more preemie related. We have a follow up with Neurology this week. As much as I wish he was further ahead, he has made an enormous progression since his last visit.

When it comes down to it, what is most important? Happiness is the key. From the very beginning I have stayed positive for Evan and his future. I NEVER doubted his survival and have only remained optimistic about any of the challenges we were forced to face. Now, 2 1/2 years later, I have more of these "moments" than I did during the first year of his life. I am exhausted. I did not picture this as our life, when I envisioned Evan's future as I rocked him as a newborn. I though he would be walking and talking by now. But with all of the skin care, therapy sessions and doctor appointments, Evan never really complains or fusses. He truly is the happiest, most pleasant child ever. As much as any mother says this about her own, it is true. For all of the concerns I have for him, especially the challenges he faces everyday with his skin, he is happy and loved unconditionally. He seems pleased with his life, smiles nonstop and loves to snuggle. What more could I want?

This video is a little old.. a few weeks.. but my smart little man in action!

 

Super Evan

Evan has been featured on the blog Tiny Superheroes. I was contacted by Robyn from Tiny Superheroes, a few weeks ago, telling me how inspired she was by Evan and that she wanted to send him a cape. She asked me if I was willing to share Evan's story and pictures of him sporting his custom made superhero cape on her blog. I was delighted to be included and more than willing to share his story. Check out Super Evan on their blog! Thank you Super Puddles!!!

Tiny Superheroes, like Evan, are made and given custom capes with their initial on it. These capes are a sign and recognition of their superhero powers by touching our lives with their inspirational stories. For the month of February, if you BUY ONE cape another will be DONATED to a Tiny Superhero. Read more about their mission HERE.

I HAD to get one for Bruli too!!! 

 

UPDATE: T-SHIRT SALE

T-Shirts are ordered and printing will begin soon! I used a local company, Been Printed. I much rather support a small local business than find some mass producing place on the internet. And I own shirts that have been printed here and they are great quality.

So here's the deal:

Shirts are on a first come first serve basis. If you emailed me already and I responded, you are locked in and will be sold the shirt(s) you have requested. If you would like to purchase a shirt please email me (dede583@hotmail.com). In the Subject field write T-SHIRT SALE. Please tell me the size, color and quantity you prefer and I will do my best to make sure I have it available for you. I will send everyone who would like to purchase a shirt, an email with a link to paypal for purchases. My email confirmation will be your way to be guaranteed a shirt for purchase. I will get mailing addresses via email for any out-of-towners (a small shipping fee may be needed). If you live around town or I have a way to meet up with you, I can deliver shirts in person.

Shirt details:

$20 each with ALL PROFITS to benefit the FIRST Foundation.
All shirts are men's, 100% cotton, Gildan t's (but limited in number and color so make sure you order quick!!!!!)

-Small- white or iris blue
-Medium- white or iris blue
-Large- white or iris blue
-Extra Large- white or iris blue
-I have very limited children sizes. If you are interested in children's shirts email me ASAP!!!

Tie-dye is available for an extra $10 per shirt.

Here is the proof from the business making the shirts:

Thank you so much for your support and for supporting the FIRST Foundation. 

Hopefully our efforts will help raise awareness and help fund research to find a cure!!! 

 

Happy Birthday Nelly!!!!

We want to wish Nusrit a very 

Happy Birthday!!!!!

We hope you have a FABULOUS day!!!

Nusrit "Nelly" Shaheen is the oldest person in the world living with Harlequin Ichthyosis. Happy 29th Birthday!!!

Nelly leads a positive lifestyle. As the oldest known survivor of HI she has faced many obstacles and overcame them all. She wants to "live life to the fullest" and has not let her skin hold her back from doing what she wants. She has participated in many TV shows and fundraisers raising awareness for this condition. She also appeared in the series, Beauty and the Beast: The Ugly Face of Prejudice. Nelly and glamour model, Holly, spent a few weeks together to show their perspectives of what beauty really means. Nelly tried to show and explain to Holly that trying so hard to be "beautiful" (in society's eyes) will never truly make you happy. From all that I have read about Nelly and from our brief conversations on Facebook, she seems like an amazing person. I hope one day we will get to meet this inspiring woman. 

Read more about Nelly here and here.

 

Our Blog's 1st Anniversary!!!!

WOW! One whole year already!! I cannot believe how fast time flies AND that I was able to keep up with my very first blog for a year! And counting! I am so glad that I have reached out to help raise awareness for Ichthyosis and to help support the FIRST Foundation. I had always planned to connect, fundraise and raise awareness but it was until reading about Brenna that sparked my inspiration. On Rare Disease Day 2012, I shared my first post about being an Ichthy Mommy (any mommy of an Ichthyosis child ;-)) It felt good to finally share my story with others than just my family and personal friends. I was happy to raise awareness and plan on continuing to do so through this blog and with more fundraisers for FIRST.

Last year alone we were able to raise over $5,000 for FIRST. I never could have imagined collecting that much. Most of the money was earned during our "It Make Cents to Help FIRST" fundraiser. About $1,000 of it was raised by a good friend of ours who competed in a Triathlon in honor of Evan. Another friend of ours ran in the Hartford Half Marathon for Evan and for FIRST. We have had so much support this year from all of you and I thank you for helping and putting us a step closer towards a cure.

As most of you know my current fundraiser, Evan's FIRST Fundraiser, is a T-Shirt Sale to benefit FIRST. Printing will being soon and shirts will be ready to be sold and sent out well before Ichthyosis Awareness Month. And for all of you generous people who helped support the FIRST foundation this year by participating in any of my fundraisers or personally donating to FIRST, will be put into a raffle to:

WIN A FREE T-Shirt. 

I have all of the names of those who participated in "It Makes Cents" but if you donated to Rockhill's Triathlon, Leif's Half Marathon, or made a personal donation to FIRST in honor of Evan, please email me (dede583@hotmail.com), message or comment, so you can get thrown into the raffle too! Of course I will personally be paying full price for the shirt so FIRST still benefits from the profits. Win Win!!!

Thank you, Thank you, Thank you to everyone who has helped raise awareness for Ichthyosis. Thank you for supporting Evan and the FIRST Foundation. And thanks for following along with my blog! I have enjoyed writing and posting over the year! Be sure to check out Powerful Posts, Videos, and Cute Stuff to see all sorts of pics, videos, and posts over the year!

More bubble fun!!