Kelly is the Founder and former President of the MED13L Foundation. Following the diagnosis in 2016 of her two sons, Dylan and Logan, she immediately saw the need for an official organization to advocate for families affected by MED13L.
Starting in 2009, Kelly and her husband Ryan searched for a diagnosis for their sons. In 2014, after years of testing, her family enrolled into a research study at the Children’s Hospital of Philadelphia called PEDI SEQ: the CHOP Pediatric Genetic Sequencing Project. Finally, in 2016 her family received the news that both their sons had a rare diagnosis called MED13L.
At the time of their diagnosis they were informed their boys were only 2 of 15 cases medically published in the world. To finally have a name to go along with a long list of symptoms and medical issues was a wonderful feeling, but at the same time Kelly and Ryan felt defeated as no answers or explanations could be given because of the rarity of MED13L. The genetics team provided one piece of advice and that was to find other families to be able to learn from each other, again emphasizing that the medical community was not going to provide much guidance.
As Kelly will say their MED13L journey began immediately when given the diagnosis. With the love and support from family and friends the MED13L Foundation was established in 2017. The mission was clear that this non-profit organization needed to connect families, share information, and engage with the scientific community so that we could better understand and advocate for our MED13L loved ones.
Prior to her work with the MED13L Foundation, Kelly worked in research at the University of Pennsylvania as a Clinical Research Coordinator working collaboratively on research study grant writing, development of protocols, regulatory policies, patient advocacy, and quality patient care. Witnessing firsthand the impact bench to bedside research can have on a community, especially a rare community, one of the initial goals of the MED13L Foundation was to help advance research. Kelly began facilitating research initiatives by connecting and collaborating with researchers, organizations, and other MED13L families to push forward the Foundation’s mission. Today other MED13L families have joined the cause which is truly a sign of hope and strength.
Kelly is primarily focused on community outreach directly supporting and providing resources to families. Additionally, Kelly is assisting the operational functions of the non-profit.
Kelly and Ryan believe the boys are miracles and even though having a disabled child, let alone two, is met with challenges…. they wouldn’t change it for the world. As parents, they are most inspired by the beautiful bond between their sons and the JOY they have given others. Joy is a common theme reflected among other MED13L parents and families. Kelly’s hope is that one day diagnosed families are given a clear outlook on living with MED13L so that families feel supported and empowered.
Kelly, Ryan, Dylan, Logan and daughter Maggie reside in New Jersey.