Genetics Cure for Gavin (MECP2 DS)
Donation protected
Before I tell you Gavin's story I just wanted to share a quick story of my own. Gavin's middle name is Louis. I selected that name in honor of my best friend Louis who passed away from cancer in 1991 at the age of 12. I have many great memories. We spent so much time having fun together as kids, fun my son may never get to experience. I miss Louis, but I know I will miss my son a million times more. Please help us find a cure now!!!
Gavin's Story
The moment your child is born your life changes in so many great ways. All you can do is think about all of the great things you will do together as a family in the future.
Gavin was born on September 4th, 2016 around 1:30 in the morning. He was just over 9 pounds. A big boy. Our instant joy turned quickly to panic seconds after birth when my wife, Erica, hemorrhaged and doctors had a very hard time stopping the bleeding. She pulled through and after time in the ICU Erica finally met Gavin and we thought we were ready to go home.
Gavin then got a fever and he was brought to the NICU where he stayed for the next 23 days. He had a variety of issues ranging from aspiration to very low oxygen levels. Finally we were going home and everyone was healthy.
Around 9 months old you could clearly tell Gavin was behind on his milestones. We often heard the famous line of "boys progress slower than girls", so no testing was warranted from the pediatrician yet. Gavin continued to miss milestones until his first birthday when he qualified for physical therapy, occupational therapy and developmental intervention. Needless to say he was not a fan, but we had to do something to get him moving.
In November 2017 , Gavin was back in the hospital with pneumonia and low oxygen levels again. While admitted he also got RSV. It was finally time for more aggressive testing.
On January 31st, 2018 we went to see the neurologist who would give us the results that would change our lives forever. At just 16 months old Gavin was diagnosed with MECP2 Duplication Syndrome. The doctor was so professional in delivering the news and honestly told us she had never heard of this before. She researched and told us:
MECP2 Duplication Syndrome is
-A rare, progressive neurological disorder that primarily affects boys
-Only 1000 estimated cases worldwide
-Low muscle tone
-Feeding difficulties
-Poor or absent speech
-Constipation and/or reflux
-Seizures that may not improve with treatment
-Delayed development of motor skills such as sitting and walking
-Loss of previously acquired skills (developmental regression)
-Recurrent respiratory tract infections. These respiratory infections are a major cause of death,
- Average life expectancy is 25 years
So why do we need your help?
First, we are already getting some bills for Gavin's medical care that is not being fully covered by insurance.
Second, we need to start putting money away for when we need to buy the necessary items for Gavin's well being. For example, Gavin is non-verbal so we are looking into speech generating devices that use Gavin's eye site in order for him to communicate. Other devices that we will need in the near future include a walker/standing device and a special needs child’s bed.
Finally, there is no cure for MECP2 Duplication Syndrome so we are taking 30% of all the donations we raise on here and giving it straight to MECP2 Duplication Fund to help find a cure for Gavin and all the other children fighting this horrible syndrome. We will also do yearly fundraisers where we give 100% of the proceeds to the research.
Thank you so much for taking the time to read this and supporting Gavin in any way you can. I will keep you updated on his progress and story.
Gavin's Story
The moment your child is born your life changes in so many great ways. All you can do is think about all of the great things you will do together as a family in the future.
Gavin was born on September 4th, 2016 around 1:30 in the morning. He was just over 9 pounds. A big boy. Our instant joy turned quickly to panic seconds after birth when my wife, Erica, hemorrhaged and doctors had a very hard time stopping the bleeding. She pulled through and after time in the ICU Erica finally met Gavin and we thought we were ready to go home.
Gavin then got a fever and he was brought to the NICU where he stayed for the next 23 days. He had a variety of issues ranging from aspiration to very low oxygen levels. Finally we were going home and everyone was healthy.
Around 9 months old you could clearly tell Gavin was behind on his milestones. We often heard the famous line of "boys progress slower than girls", so no testing was warranted from the pediatrician yet. Gavin continued to miss milestones until his first birthday when he qualified for physical therapy, occupational therapy and developmental intervention. Needless to say he was not a fan, but we had to do something to get him moving.
In November 2017 , Gavin was back in the hospital with pneumonia and low oxygen levels again. While admitted he also got RSV. It was finally time for more aggressive testing.
On January 31st, 2018 we went to see the neurologist who would give us the results that would change our lives forever. At just 16 months old Gavin was diagnosed with MECP2 Duplication Syndrome. The doctor was so professional in delivering the news and honestly told us she had never heard of this before. She researched and told us:
MECP2 Duplication Syndrome is
-A rare, progressive neurological disorder that primarily affects boys
-Only 1000 estimated cases worldwide
-Low muscle tone
-Feeding difficulties
-Poor or absent speech
-Constipation and/or reflux
-Seizures that may not improve with treatment
-Delayed development of motor skills such as sitting and walking
-Loss of previously acquired skills (developmental regression)
-Recurrent respiratory tract infections. These respiratory infections are a major cause of death,
- Average life expectancy is 25 years
So why do we need your help?
First, we are already getting some bills for Gavin's medical care that is not being fully covered by insurance.
Second, we need to start putting money away for when we need to buy the necessary items for Gavin's well being. For example, Gavin is non-verbal so we are looking into speech generating devices that use Gavin's eye site in order for him to communicate. Other devices that we will need in the near future include a walker/standing device and a special needs child’s bed.
Finally, there is no cure for MECP2 Duplication Syndrome so we are taking 30% of all the donations we raise on here and giving it straight to MECP2 Duplication Fund to help find a cure for Gavin and all the other children fighting this horrible syndrome. We will also do yearly fundraisers where we give 100% of the proceeds to the research.
Thank you so much for taking the time to read this and supporting Gavin in any way you can. I will keep you updated on his progress and story.
Organizer
Carl M Ruffer
Organizer
Hillsborough Township, NJ
