BENEFITING: Charities Aid Foundation America
ORGANIZER: Grace and Will
Grace and Will McIntosh wrote -
Dear Friends and Family,
We humbly ask for your support to be an important part of our cause in finding a drug that can reverse the effects of intellectual disability and specifically, Kleefstra syndrome (“Kleefstra” or “KS”). Many of you may not know that our three year old son, Ethan, has Kleefstra, a rare genetic disorder that causes both intellectual and physical disabilities.
He has transformed our lives greatly. We first learned of Ethan’s permanent hearing loss during his first week of life, and has been wearing hearing aids since the age of five months. His low muscle tone affects his gross and fine motor abilities throughout his entire body. He cannot drink water without aspirating so he is required to follow a strict regimen of thickened liquids to safely hydrate and avoid the risk of pneumonia. Ethan also has a heart abnormality that we must monitor every six months. At one year old, he underwent eye surgery and he has been wearing glasses since nine months old. We discovered that he also has a brain abnormality that we believe affects his ability to simultaneously control his left and right sides.
Through daily early intervention therapies ranging from speech, special instruction, hearing, physical and occupational therapies, Ethan has made tremendous progress in the last two years. Although Ethan is non-verbal (unable to speak), he now communicates through some sign language and verbal approximations such as “mama” and “dada," and his favorite color, “ye--ow.” He can also walk assisted in his rolling walker (see video attached), opening up a new curious and independent side that we have begun to see in him. As a family, we celebrate even the smallest of his milestones because we know how much determination and pure physical effort they require of him to achieve.
We do not yet know what the future holds for Ethan, but we are convicted that we must do our part to help him and all children living with KS and other intellectual disabilities, enhance their ability to understand, speak, and communicate so that they may reach new milestones to be celebrated by loved ones. Ultimately, together we can help them live fuller, richer lives.
GeneSpark.org is the ONLY global charity worldwide that is focused directly on reversing intellectual disability in many rare gene-linked conditions.
GeneSpark.org is an international non-profit foundation with a purpose to fund scientific research projects aimed at reversing intellectual disability, with an initial focus on Kleefstra. Generally, KS patients have lifelong intellectual disabilities, are nonverbal/unable to speak, and have various neurological and physical abnormalities, including heart and kidney defects, respiratory infections, seizures, and low muscle tone. As KS children grow older, their development has proven stagnant and often regressive, with many suffering from severe mental, physical, and emotional disorders, in addition to intellectual disability. There are no known cases of KS kids with full/normal speech capability or adults living independently – all require lifelong care and cannot function in simple everyday tasks. However, WE CAN CHANGE THIS.
Much scientific progress has in fact been made with regards to understanding KS, but no one is yet focused on developing a drug treatment, primarily due to a lack of available funding. Our GeneSpark.org team has traveled the world to meet several research teams focused on KS and the reversal of intellectual disability. We have already identified several projects aimed at developing a drug treatment and have assembled a highly qualified Scientific Advisory Board with over 100 collective years of field experience at top institutions in the world, including M.I.T., Harvard, Stanford, and Johns Hopkins, to help guide our research efforts.
Funding is the biggest hurdle to progress but the latest research and exciting recent developments in drug testing show that you can help make a difference in our lifetimes if we get going NOW. YOUR contribution can *spark* change to help children affected by KS to one day possibly speak, learn, understand, and communicate like typical children.
Here are five ways you can get involved today and shine Ethan’s Light:
- DONATE to our cause by visiting Ethan’s fundraising page; https://www.crowdrise.com/ethanslight/fundraiser/willandgracemcintosh
- SHARE Ethan’s fundraising page with your friends and family on Facebook and Twitter: https://www.crowdrise.com/ethanslight/fundraiser/willandgracemcintosh
- START your OWN Crowdrise fundraising team and encourage your friends and family to make a difference through their own networks by setting up their OWN fundraising teams; and
- JOIN and SHARE our Genespark.org Facebook page to stay connected with the families you’re supporting!
We accept tax-deductible donations from U.S. taxpayers through our partnership with Charities Aid Foundation America, an independent U.S. registered charity. All donations are receipted by email and are directed to GeneSpark.org. Please visit www.GeneSpark.org for more information.
We are tremendously grateful for your friendship and partnership. Thank you in advance for your support and generosity! May God bless you, keep you, and give you peace!
Will and Grace McIntosh