Jennifer Kane's Fundraiser
Driving Progress for Kleefstra Syndrome Research
Join me and help make a difference for Jayla and other Ks children.
A supporter of Jennifer Kane
"Praying for you little princess"
Lee Quick
I donated in support of this campaign.
$50
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JoAnn Kane
"My beautiful granddaughter you are loved so much Grammy"
$50
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Jennifer Kane
"Mama, Dada, and Sissy love you Jayla to them moon and back infinity times over! We will always fight with everything we got for you & your health! "
$50
Our youngest daughter, Jayla, was diagnosed with Kleefstra syndrome (Ks) at 16 months of age. Kleefstra syndrome is an extremely rare genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Jayla has a multi-exon deletion near the end of chromosome 9 which affects the 9q34.3 region of the gene called EHMT1 (Euchromatic Histone Methyltransferase 1). The impact leads to the loss of the entire gene which affects various complex human developmental aspects.
Since Jayla’s birth, she has experienced a chronic heart defect (which required heart surgery at 7 weeks old), developmental delay, delayed speech, Ks recognizable facial appearance, gastrointestinal issues, low muscle tone (hypotonia) and delayed physical milestones. She is currently in physical, occupational, and speech therapies, while being regularly monitored by medical doctors and staff. However, all this does not define who Jayla is. She is an extraordinary child that is always happy and smiling. Her bright blue eyes and beautiful smile radiant the world around her. She loves spending time outside, listening and dancing to music, enjoys the pool playing alongside her older sister, and loves to look at family photos. Jayla is nothing short of a true warrior and, with time, will show those around her that she is brilliant, sweet and beyond compare!
Please join me in making a difference for families like mine! Let’s support good in the world and make a difference. We enjoy the little things, and we celebrate on our journey. We are inspired and motivated by those living with Kleefstra Syndrome, and this is the platform for them to shine! Your support helps develop care, community, and research initiatives that will continue to make these opportunities possible for IDefine!
Just a small donation towards our $917 goal (this goal amount signifies the Ks gene deletion 9q34.3 - number 9 for deleted chromosome 9 and 17 for the letter Q as it is the 17th letter in the alphabet) will go a long way to helping my family meet our goal for IDefine!