Jacob takes CHARGE!
Donation protected
My nephew, Jacob was born with a rare genetic syndrome called CHARGE. This syndrome affects 1 in every 9-10,000 births worldwide. CHARGE is an acronym for unusual and congenital features. The letters stand for coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness. CHARGE syndrome is the leading cause of deafblindness .
Every case of CHARGE syndrome is unique. Here is a little bit of information regarding Jacobs journey thus far. Jacob has bilateral optic nerve colobomas which affects his vision and appearance of his eyes. Next, he has right-sided bony choanal atresia, which was repaired last summer. Jacob is short statured due to insufficient levels of growth hormone. In the future he will need hormones to assist with growth development. Jacob has cranial nerve damage which caused right ride facial palsy as well as swallowing difficulties. Jacob is currently fed a blenderized diet through a g-tube. Lastly, Jacob has bilateral hearing loss and absent, semi-circular canals. His primary form of communication is ASL, however he is beginning to verbalize. Since birth he has worn hearing aids and has also had balance issues. Over the past three years he has undergone five surgeries and has had extensive therapies to improve his overall health and development.
Although this has been a difficult journey for my sister and our family, Jacob has continued to amaze us every single day. Most importantly, he is a very happy little boy who brings us lots of joy.
Just recently we've gotten wonderful news from the Dracut school system that he will be attending Perkins school for the blind.
Every two years there is an international CHARGE conference where people from all over the world come together to discuss all aspects of CHARGE syndrome. It is a gathering of individuals with CHARGE, their families, and professionals who are working in the field conducting research. For additional information about the conferences, you can visit www.chargesyndome.org/conference-2015.asp
The reason why I am doing this fund is for my sister and nephew to be able to attend this 2015 conference. It is being held July 30-August 2 in Chicago,Illinois. They were not able to go to the first two conferences, and I know how much it would mean to them to be able to go. The expenses of this trip are great and unfortunatly at this time she does not have the means to go. Thank you for any/all donations. My sister will greatly appreciate it.
Every case of CHARGE syndrome is unique. Here is a little bit of information regarding Jacobs journey thus far. Jacob has bilateral optic nerve colobomas which affects his vision and appearance of his eyes. Next, he has right-sided bony choanal atresia, which was repaired last summer. Jacob is short statured due to insufficient levels of growth hormone. In the future he will need hormones to assist with growth development. Jacob has cranial nerve damage which caused right ride facial palsy as well as swallowing difficulties. Jacob is currently fed a blenderized diet through a g-tube. Lastly, Jacob has bilateral hearing loss and absent, semi-circular canals. His primary form of communication is ASL, however he is beginning to verbalize. Since birth he has worn hearing aids and has also had balance issues. Over the past three years he has undergone five surgeries and has had extensive therapies to improve his overall health and development.
Although this has been a difficult journey for my sister and our family, Jacob has continued to amaze us every single day. Most importantly, he is a very happy little boy who brings us lots of joy.
Just recently we've gotten wonderful news from the Dracut school system that he will be attending Perkins school for the blind.
Every two years there is an international CHARGE conference where people from all over the world come together to discuss all aspects of CHARGE syndrome. It is a gathering of individuals with CHARGE, their families, and professionals who are working in the field conducting research. For additional information about the conferences, you can visit www.chargesyndome.org/conference-2015.asp
The reason why I am doing this fund is for my sister and nephew to be able to attend this 2015 conference. It is being held July 30-August 2 in Chicago,Illinois. They were not able to go to the first two conferences, and I know how much it would mean to them to be able to go. The expenses of this trip are great and unfortunatly at this time she does not have the means to go. Thank you for any/all donations. My sister will greatly appreciate it.
Organizer and beneficiary
Candace Richardson
Organizer
Dracut, MA
Dolores Anselmo
Beneficiary