RARE DISEASE DAY 2018

Our lives were changed many times over the years because of a rare disease. First on Tuesday, April 22, 2003 at 12:29 p.m. and 12:30 p.m., our beautiful twins were born. Second on Friday, July 3, 2009, Ian had an episode which cased him to lose all his gross and fine motor functions. Third, in April of 2010, we traveled to Utah to see a specialists and learned that whatever was causing Ian’s regression was a rare motor neuron/neurogenetic disease 

My post on Facebook, showing the back of Becca's rare disease day shirt.

which was progressive, non-treatable and terminal. Fourth, in March of 2012, the four of us, my husband, Brian; my daughter, Becca; myself, and my son, Ian had blood drawn for genetic testing (Whole Exome Sequencing). Fifth on, Monday, July 2, 2012, our genetic counselor called to tell us Ian had a mutation of the VRK1 gene, also known as Pontocerebellar Hypoplasia with Spinal Muscular Atrophy or PCH1A. 

Daddy wearing his "special" rare disease day shirt! 

At that time, according to records the doctors could find, Ian was the 4^th documented case. Sixth, December 2012, Ian ended up in the hospital for 2 months which resulted in him being trached and vented in February 2013.  

Jami Margolis - Always supportive and spent many
hours with us in the hospital!

March 2013, Ian came home from the hospital with in-home nursing care and palliative/hospice care. From March 2013 to September 2016, there were many more changes, including Mother’s Day, May 8, 2016, watching Becca and Ian become B’Nai Mitzvah. 

Kiki posted this on Facebook and Instagram along with a riiboon.

Our last final major change with Ian in our lives, was September 15, 2016, when he peacefully passed away. There have been many, many more life changing events as Brian, Becca and I continue to live this part of our journey in the rare disease world. 

This was from "Global Genes" a few years ago, I still love it!

Cousin Jo Greenberg -- wearing her jeans 
and educating her co-workers!

Rare diseases affect more than 30 million people in the World. It not only affects the person who has the rare disease but the whole family, as well as the extended family and the community. Helping to raise awareness for rare diseases is a way for us to keep Ian’s memory alive. 

Cousin Kiki showing her love and support. Ian is sticking his tongue out at her just because he can!

There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. In the U.S., a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group. Imagine how many people you know who have a rare disease and you aren’t aware of it. For more information on rare diseases check out https://globalgenes.org or https://rarediseases.org.

Cousin Ethan, showing his support in Vegas!

Cousin Harvey also showing his support in Vegas. #CareAboutRare Rocking my blue denim ribbon for

Aunt Patti, Hayden and Kirsten showing and supporting Rare Disease Day in Delaware.

Some of the Department of Pediatrics from DuPont Hospital in Delaware, including two of my cousins, Dr. Julie Kaplan and Dr. Michael Bober...both of whom have been a tremendous support for us.

Eileen Kalkstein - Another one of my JWRP sisters...HP moment,
her oldest daughter was Becca's camp counselor at Milldale one summer. 

Sallie Palmer -- Today my girl wears this ribbon and in support of everyone fighting a rare disease and everyone who has fought hard. Miss you Ian Scher.

World Rare Disease Day is an annual observance held the last day of February to raise awareness about rare disease, and the daily impact living with a rare disease has on patients and families.  The Rare Disease Day campaign targets the general public and policy makers and everyone is welcome to join: patients and their families, patient organizations, health professionals, researchers, drug developers, public health authorities - the more, the better! Since Rare Disease Day was created by EURORDIS in 2008, thousands of awareness-raising activities have taken place throughout the world reaching hundreds of thousands of people and generating local and international media attention.


KEY FIGURES

• A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. 

  

  Susan Herskoitz -- one of my JWRP sisters!

  
  

  

  When two of my world's collide - Mackenzie (Kiki) and Susan work together.....HP!
  

  
  

• A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.



Our wonderful friend Michelle Schwartz...where would we be without her?

• There are approximately 7,000 different types of rare diseases and disorders, with more being discovered each day. 

  

  Anne King -- Happy to join so many staff members at Chizuk Amuno today in support of our friend, Marci Weinberg Scher, in awareness of rare genetic diseases day. We all wore jeans.

  
  



One of Ian's teachers from Chatsworth -- Randie Friedman -- Wore rare gene ribbon on a jean shirt to support Rare Gene Day! I think of Ian often, but today especially. Thanks for the ribbons Marci Weinberg Scher.

• 30 million people in the USA are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population. 
• 80% of rare diseases are genetic in origin, and thus are present throughout a person's life, even if symptoms do not immediately appear. 

  

  Connie Berman -- Wearing my jeans for rare disease day. Remembering Ian~ xoxo
  

  
  

• Approximately 50% of the people affected by rare diseases are children.



Becca with some of her friends at school wearing ribbons! They have been a huge support system to her over the years.

• 30% of children with rare disease will not live to see their 5th birthday.

  

  Andi Polter, one of my JWRP sisters --Today was all about awareness and honored to wear this Blue Denim Genes Ribbon in Ian’s memory (Marci Weinberg Scher) and in honor of Camden (Nicole Riggs Weber) and Dean (Ali Foley Shenk) and the many others to show that I care and support people fighting rare disease. ❤️
  #GenesRibbon
• Rare diseases are responsible for 35% of deaths in the first year of life.  



My girlfriend Melissa Willen...showing her support and love.

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  Elisa Bauman -- One of my JWRP sisters wearing our ribbons in support 💙💙💙
  

  
  

  The prevalence distribution of rare diseases is skewed - 80% of all rare disease patients are affected my approximately 350 rare diseases. 
• According to the Kakis Everylife Foundation, 95% of rare diseases have not one single FDA approved drug treatment.  



Alyson Blizzard showing her support. A fellow Girl Scout Sister.





• During the first 25 years of the Orphan Drug Act (passed in 1983), only 326 new drugs were approved by the FDA and brought to market for all rare disease patients combined.






Morah Sally -- Becca and Ian's Hebrew and B'Nai Mitzvah tutor. She's wonderful.

• According to the National Institutes of Health Office of Rare Disease Research, approximately 6% of the inquires made to the Genetic and Rare Disease Information Center (GARD) are in reference to an undiagnosed disease.  



Another part of our Chatsworth family, Lara Fruman, and her daughter...always supportive.

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

Alison Pascucci - Rare Disease Awareness Day! For you Ian. You’re forever in our hearts. Not everyone took pictures of their ribbons, some decided to post facts instead. 

Rivky Flamm - the fabulous case manager from
Chai Lifeline Mid-Atlantic Region

Tzvi Haber - Our wonderful Chai Lifeline
Mid-Atlantic Program Manager...XOXO

Cathy Thomas - a great friend of mine and our Girl Scout
Troop leader 

This is from 4 years ago; showed up on
Facebook with Timehop...loving someone who is RARE
always and forever.

Chrissy Peters -- This ones for Ian today is rare disease day!!! 😍😍

Maddie and her friend --This ones for Ian today is rare disease day!!! 😍😍

Mama Jenn - Rocking the jeans today to celebrate rare disease day! I am wearing these to honor a special young man, Ian. While he is no longer with us in person, his spirit is close to my heart.

Stephanie Rabinowitz - It's Rare Disease Day! Wearing my ribbon in memory of Ian 

Julie Enelston - Only for the Scher’s, Ian’s Memory and to represent for Rare Gene Disease would I get dressed in Jeans AND post a selfie on FB while recovering from the Flu and an ear infection! Love you all!!!!! ❤️

Bethnay Hackerman - Even though I am sick and home all day I was not going to go without wearing denim today. Today I wear this ribbon and denim in support of everyone fighting a rare disease and everyone who has fought hard.

Gilit Weiss-Kalmanovich....my Israeli JWRP sister...My daughter and her soldiers are with you!!!
A big hug from us all.

Gilit Weiss-Kalmanovich -- My dear Marci Weinberg Scher, my heart is with you all the time ❤️❤️❤️

Jami Margolis sent me this photo on February
27, 2018; saying that they were all ready
for Rare Disease Day!

Erin Schiff - Wearing my ribbon for Rare Disease Awareness. #rare
Marci Weinberg Scher

Erika Buchdahl - wearing my ribbon

Stacey Martin - Wearing my jeans for Rare Disease day💙💙 

Linda Butler...XOXO!

Karen and Alyssa Fraizer - Supporting Rare disease day 2018!!! ❤

Connie, Scot, Rylee and Grant Lippenholz - Wearing our blue "gene" ribbons for #wrdd2018 in honor & memory of Spidey Ian! 

Jennifer Orlando - my wonderful girlfriend from college - Wearing my jeans today for Rare Disease Awareness. 💙 

Rebecca Snyder, one of the wonderful Goldsmith Early Childhood Education teacher, dressing up for Purim and wearing her ribbon!

Laura Portnoy Mehrman -- Wearing my jeans to show my support for Rare Disease Awareness Day. Thinking of you Marci, Brian, and Becca. 💖

Donna Stollings - Dillon wants everyone to know that tomorrow is Rare Disease Day! And even though he can't wear jeans for genes, there are lots of ways that YOU can help spread the word. 
My friend, Marci, lost her son Ian to a rare disease, so in his memory, let's help raise awareness. We really can make a difference. Go to www.rarediseaseday.org to find out more. 💙 

Jami, Emma and Avi Margolis - We are wearing our ribbons and jeans for the strongest superhero we ever knew!
#wecare
#worldgeneticsawarenessday
#SuperIan

Heather Lev - my wonderful girlfriend and one of my rocks - World Rare Disease Day Supporting those here fighting and those who fought so hard. Love to all who are in the same boat.

Jay Weiner - a long time high school friend - Wearing my jeans in memory of Ian ❤️

#rarediseaseday

Gale Herr -  I Care About Rare. Wearing Jeans and Genes Ribbon for World Rare Disease Day to Support Rare Disease Awareness . #GenesRibbon#WRDD2018

Susan Havelock - Supporting!! 😊😊 S

Jami Margolis sent this to from on this day in Facebook Marci Weinberg Scher 😇😇💔 - I know that Bernie is with Ian in Heaven making some trouble.😘

Chrissy and Lisa - The sisters got there ribbons too love you Ian !!

Some of  the "K" Team at Krieger Schechter Day School, plus me.

Some of the staff from Chizuk Amuno Congregation, showing their support!

A huge thank you to all who showed their support on Rare Disease Day 2018, as well as thru the years. While our need for support has changed, the need to raise awareness for rare diseases all over is still around as well it always will be. We will continue to find our way and raise awareness as often as we can in memory of Ian Alexander Scher.