Thank you for visiting! We created this GoFundMe for our son James who was diagnosed with LAMA2 Congenital Muscular Dystrophy (LAMA2-CMD) at 5 months of age. This is rare genetic disease for which there is no cure.
LAMA2 CMD is caused by two mutations in the LAMA2 (lamanin alpha 2) gene which produces merosin, a key protein used in the development and function of the extracellular matrix of the muscle cell membrane. Affected individuals with LAMA2 are born with complete or partial merosin deficiency, depending on where the genetic mutations are located. James was born with complete deficiency, meaning it was present at birth. LAMA2 presents itself with white matter changes in the brain, severe muscle weakness, hypotonia, contractures, respiratory and feeding difficulties, just to name a few. We were fortunate to receive a confirmed genetic diagnosis just before James was 5 months old. This gave us an opportunity to get a jump start on necessary therapies and assistive equipment that have made a tremendous difference in his early development.
James is a very busy guy! He receives, or has received the following therapies: OT, PT, aqua, speech, feeding, massage, music and hippo-therapy. He also has several pieces of equipment that he uses throughout the day to assist with tasks often taken for granted. These include a power wheelchair, an adaptive stroller, a stander, AFO's, among other things. However, as James gets older, his challenges will only become greater, and his need for physical assistance increases. We created this GoFundMe to help with our biggest need yet - modifying our home to make our house a fully accessible and safe space for James to grow. This includes installing a wheelchair lift into our house and building him his own bedroom and bathroom, designed specifically to meet his unique needs.
With all of the challenges and difficulties that James faces on a daily basis, he remains charismatic, kind, is extremely bright, and with the exception of his mobility challenges, is just like any other 3 year old boy. He loves Mickey Mouse, astronauts, dinosaurs, playing outside and spending time with his family and friends. He started pre-school this past fall and we couldn't be more proud of how far he has come and we can't to see what happens next.
If you'd like to learn more about James, please follow The James Gang at https://www.facebook.com/TheJamesGangStaysStrong or check us out on YouTube https://youtu.be/dSKmJug5pBo
Our mission in life has always been to remove barriers and give James everything he needs to be happy, healthy, strong, and confident. Funds raised through this effort will help us carry out that mission.
We thank you in advance for your kindness and support.
Sincerely,
Molly & Anthony Parisi
LAMA2 CMD is caused by two mutations in the LAMA2 (lamanin alpha 2) gene which produces merosin, a key protein used in the development and function of the extracellular matrix of the muscle cell membrane. Affected individuals with LAMA2 are born with complete or partial merosin deficiency, depending on where the genetic mutations are located. James was born with complete deficiency, meaning it was present at birth. LAMA2 presents itself with white matter changes in the brain, severe muscle weakness, hypotonia, contractures, respiratory and feeding difficulties, just to name a few. We were fortunate to receive a confirmed genetic diagnosis just before James was 5 months old. This gave us an opportunity to get a jump start on necessary therapies and assistive equipment that have made a tremendous difference in his early development.
James is a very busy guy! He receives, or has received the following therapies: OT, PT, aqua, speech, feeding, massage, music and hippo-therapy. He also has several pieces of equipment that he uses throughout the day to assist with tasks often taken for granted. These include a power wheelchair, an adaptive stroller, a stander, AFO's, among other things. However, as James gets older, his challenges will only become greater, and his need for physical assistance increases. We created this GoFundMe to help with our biggest need yet - modifying our home to make our house a fully accessible and safe space for James to grow. This includes installing a wheelchair lift into our house and building him his own bedroom and bathroom, designed specifically to meet his unique needs.
With all of the challenges and difficulties that James faces on a daily basis, he remains charismatic, kind, is extremely bright, and with the exception of his mobility challenges, is just like any other 3 year old boy. He loves Mickey Mouse, astronauts, dinosaurs, playing outside and spending time with his family and friends. He started pre-school this past fall and we couldn't be more proud of how far he has come and we can't to see what happens next.
If you'd like to learn more about James, please follow The James Gang at https://www.facebook.com/TheJamesGangStaysStrong or check us out on YouTube https://youtu.be/dSKmJug5pBo
Our mission in life has always been to remove barriers and give James everything he needs to be happy, healthy, strong, and confident. Funds raised through this effort will help us carry out that mission.
We thank you in advance for your kindness and support.
Sincerely,
Molly & Anthony Parisi