Thank you so much for visiting my Fundraising page! I am beyond fortunate to be able to run this marathon. I won't lie I am anxious but also so very excited and have a lot of little kids and adults with Kabuki Syndrome that are behind my inspiration. Even though this will be both physically and mentally challenging. I have my 14 year old daughter, Ciara and all her Kabuki friends keeping me going during my training. I am running for them and the ROYA KABUKI PROGRAM at Boston Children's Hospital.
I've joined the Miles for Miracles team because I believe in all the amazing things Boston Children's Hospital does for kids.
The Goal at Roya Kabuki Program:
Bringing together the dream of Roya’s family and the dedication of the team at Boston Children’s Hospital sparked the creation of the Roya Kabuki Program. Holding the Kabuki Syndrome community at the heart of our efforts, we will make a positive impact in the lives of children and families across the world. Using a patient centered approach in the clinic, we strive to provide high-quality care to children with Kabuki Syndrome. We perform cutting edge research in the laboratory to further understand the underlying mechanisms of Kabuki Syndrome. As we integrate findings from both the clinic and the laboratory, we aim to raise awareness and education in both the medical and lay communities. Our ultimate goal is to develop specific therapies for patients with Kabuki Syndrome. This is our commitment to you, and we hope you’ll join us on this journey.
WHAT IS KABUKI SYNDROME:
Kabuki Syndrome is a rare congenital (something you are born with) disorder that affects multiple body systems. Many patients with Kabuki Syndrome have a distinct physical appearance characterized by a unique facial gestalt (appearance), short stature, and skeletal abnormalities. Patients may also have some level of intellectual disability or delay in addition to other abnormalities such as heart problems, hearing impairment, hypotonia (low muscle tone), feeding, and immune deficiency.
Kabuki Syndrome affects approximately 1 in 32,000 births worldwide and both males and females are equally affected. Each individual with Kabuki Syndrome presents in a unique manner and may need to seek treatment from a variety of different specialties to ensure all of their needs are being met. Patients may have a clinical diagnosis or may carry a pathogenic (disease causing) variant in either of the known Kabuki Syndrome genes (KMT2D of KDM6A).
Please consider supporting me, and support the ROYA KABUKI RESEARCH CLINIC at Boston Children's hospital! Please make a gift today.
Please visit the website for more informaiton: http://royakabuki.org/kabuki-syndrome/