Jeremy Weishaar, President & Jill Wood, Treasurer

Jonah was born July 30th, 2008, happy and healthy. Jeremy and I couldn’t take our eyes off of our remarkable son. He was our first child and his birth changed our lives. Jeremy remarked to his father that it felt like his heart had doubled in size, making room to hold all the love he felt for Jonah.

We were living in bliss with our little boy, dreaming of the years to come and all of the wonderful experiences that we would have together as a family.

At Jonah’s first-year well visit our astute pediatrician, Dr. Hai Cao, suggested we get Jonah an MRI. Dr. Cao noted that the size of Jonah’s head was “off the charts.” Nine months later, Jeremy and I received news that changed our lives a second time: Jonah had Sanfilippo Type C, a rare disease that is both fatal and incurable.

Love doesn’t falter for your child after a horrific diagnosis. If anything it grows stronger. From that point forward, we understood that every second with our son was precious. We no longer take any family time spent together for granted.

From Jonah’s second to third birthdays we traveled the world, building our patient population and establishing our team of investigators. The science awaits us and our fellow parents have united to fight for a cure.

Raquel Marques, Vice President (Portugal)

We got Joana’s Sanfilippo Type C diagnosis in August 2010. I don’t know how to describe how we dealt with that. Even today, more than two years later, I can’t describe what hearing that news felt like. Sanfilippo Type C is an insidious disease that is always present. 24 hours a day, every day of the year, it surrounds you. You can’t help it, it’s there all the time. But every time I look at Joana (she’s 9 now), I believe that she can make it. She’s a smart girl, full of joy, full of life, full of happiness. She just needs a bit of help. Our help. The rest she has! All the strength to go on!

Now, thanks to the research conducted by JJB’s team of scientists, we have the tools we need to give Joana and all of the kids with Sanfilippo a helping hand. We have the best team of Sanfilippo investigators collaborating on our behalf to find treatments for our kids. They want to do it – we just need the investors. It’s not an easy mission, but it’s possible. And believing it’s possible requires only that you look at the smiling faces of these kids.

For more information please visit our Sanfilippo Portugal page.

Nancy Burke, Secretary (JLK Foundation)

Five days before our oldest daughter Jillian’s 9th birthday, we found out she had Sanfilippo Syndrome Type C. Shortly after Jillian was diagnosed, her sisters Lindsey and Kelsey were, too. That was fifteen years ago.

Until recently not much was being done to find a cure for this disease. However, awareness is increasing and research has begun on a small scale. Our goal is help raise the funds needed to further this awareness and research and, ultimately, eliminate Sanfilippo Type C.

To learn more about the JLK Foundation please visit: http://www.jlksanfilippofoundation.com

 

Sue Burlison, Director

My name is Sue Burlison. My husband Dennis and I have a beautiful 27-year-0ld daughter named Aimee. On September 11, 2009, at Doernbecher’s Hospital in Portland, Oregon, Aimee was diagnosed with Sanfilippo Type C.

At the time, Aimee was almost 24. She had been regressing over the past ten years and we knew something was wrong, but since she had been diagnosed as mentally delayed with autistic traits when she was around 8, we thought this was the explanation. The only good thing about her Sanfilippo diagnosis was that we finally had some answers with regard to what was happening to her.

Aimee can no longer bathe or relieve herself on her own. She can no longer speak. Because she was a very verbal girl who loved to sing and make up her own songs, losing her ability to speak has been devastating for her and those who love her. However, Aimee is still very mobile and gets around well for someone with this disease at her age. Aimee is also eating very well, which is a blessing.

Meeting Jill and Jonah and working with Jonah’s Just Begun foundation has been so helpful. Talking to other families with Type C children is comforting because you know that your family is not alone, that you are not the only family dealing with this disease.

Christi & Jason Omeroid, Co-Directors (Levi’s Life, Love & Laughter)

Levi was born on July 11th, 1998. He was a healthy 6lb 7oz bundle of joy. We had no clue at the time that he was sick with a deadly disease. He looked and acted like every other healthy baby.

Levi had frequent ear infections, but other than that he was normal. His head was a little larger than most boys his age, so we had an MRI done. The results came back with no explanations. When he was two we noticed a little delay in his speech, but our pediatrician said not to worry, that he would be fine, and that we should just give him time. Levi was able to count, write his name and draw pictures. He was even learning how to read. He learned how to ride a two-wheel bike by age 4. Around age 5, doctors said he had ADHD. We dealt with it.

Things started to change more for Levi. We had him tested for Autism and several other conditions. Still, we got no answers. At that point we began feeling helpless, knowing our child was regressing in almost every way, but being unable to get an answer as to why it was happening or how to help him.

At age 8, he started to show a lot of regression. His speech was really broken up. He had a hard time carrying on a conversation with others, and he was not able to write letters or draw pictures without scribbles. We were at a loss.

We had so many false diagnoses for Levi. In November of 2008 our genetics doctor said he wanted to do one more test. That turned out to be the final test.

We had to wait three long, miserable months for the results, but in February 2009 we found out our little boy had MPS lll C, also known as Sanfilippo C. It was the worst day of our lives. We hear this, but go numb inside. The doctor tells us there is NO CURE and no treatment for this condition. He tells us that children with this disease usually die in their early teens. But we are not giving up hope. We are desperate to find a cure.

Levi is 13 years old and is so full of life. He is still able to ride his two-wheeled bike & scooter. He enjoys playing soccer, and loves to play with Hot Wheels. He has a smile that will make your heart melt and a laugh you will never forget. He loves to give BIG hugs and shows a lot of affection. He is very mobile and keeps us busy. He is such a blessing in our lives.

At the bottom of Christi & Jason Omeroid add: To learn more about Levi’s Life, Love & Laughter please visit: http://www.levislifelovelaughter.org

Julia Jenkins

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EVERYLIFE FOUNDATION FOR RARE DISEASES

Julia was appointed as Executive Director and Secretary/Treasurer of the Board of Directors in December after serving as the Director of Public & Government Relations since the Foundation’s founding in 2009.  Julia’s background in grassroots organizing, political strategy and legislative advocacy helped the Foundation unite more than 180 patient organizations under the Cure The Process Campaign to improve the regulatory process for rare disease treatments.  She coordinated grassroots advocacy efforts to ensure the inclusion of the “Faster Access to Specialized Therapies” (FAST) Act in the 2012 FDA Safety and Innovation Act (FDASIA).

Julia initiated Rare Disease Legislative Advocates to serve as a communication platform for rare disease stakeholders to work on legislative issues and to help elevate the voice of rare disease patients on Capitol Hill.  Under Julia’s leadership RDLA has expanded to host the only Legislative Conference & Lobby Day that invites all rare disease groups to come together on Capitol Hill.  RDLA also helped form the Rare Disease Congressional Caucus and works to ensure there are regulator Caucus Briefings held on Capitol Hill.

Prior to working at the EveryLife Foundation for Rare Diseases, Julia worked as a Political Communications Consultant with the Lew Edwards Group, creating strategic plans to organize communities to support local funding measures.  Julia was Legislative Director and registered California State lobbyist for Public Employees Union Local #1.  She coordinated all political action at local, state, and federal levels, including efforts to ensure every Californian would have access to affordable quality healthcare. She led efforts for the San Francisco Democratic Party, helping to defeat the anti-labor propositions in the 2005 Special Election and worked for House Minority Leader Nancy Pelosi.  Prior to working in politics, Julia was a fundraiser for the Muscular Dystrophy Association.  Julia did her Masters work in Political Science at San Francisco State University and her undergraduate work in Communications at St. Mary’s College of California.

Penny Overbaugh & Pyare Fortunato

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Penny and Pyare have been indispensable supporters off JJB since formation in 2010.  Penny works for herself as an interior designer; Pyare is a cameraman for film and television.  Both volunteer their time and resources to JJB.  Penny takes advantage of her parent groups and social connections to raise awareness and funds for JJB.  As the moderator of her neighborhoods parent list serve, serving over 1,000 Brooklyn families, Penny brings awareness to JJB with blogs and posts.  Both Penny and Pyare have volunteered to work or attended all of JJB’s local fundraisers.  Pyare has taken the initiative to create his own annual fundraiser benefiting JJB, by leveraging his position as a cameraman and member of local 600, Pyare has been able to build a formidable racing team of NYC’s finest film and television creators.