The Battle Is On for AJ & Sean
Donation protected
Our boys, our only two children, are Dying. Can you imagine that?
Our doctor told us, "I'm sorry, but there's nothing we can do.” Our whole world stopped, we couldn’t breathe and felt like we were dying ourselves as we processed the news. It's excruciatingly painful and absolutely devastating.
Our boys were diagnosed with Sanfilippo Syndrome, a genetic degenerative brain disease caused by a missing enzyme. It’s a horrible disease we had never heard of before.
We are hoping you will donate toward their medical expenses and to help us provide a life full of many experiences before they depart this world.
Our full story is below...
For years, we’ve been struggling to find out what’s been going on with our oldest son AJ. We have been dealing with very poor sleep, speech delay, hearing loss, hyperactivity, behavior issues, potential seizures, etc. We've had doctor appointment after doctor appointment since he was 2 years old. Sean also has hearing loss and major speech delay, plus had seizures when he was about a year-and-a-half old. He's been working with speech therapists since he was 2 years old.
Due to our struggles, someone recommended we see a geneticist just to make sure there wasn’t an underlying syndrome, so we did. In November of 2020, we found out that both of our sweet boys, AJ (5) and Sean (3), have a very rare and fatal inherited genetic disorder called Sanfilippo Syndrome Type B or MPS IIIB, or “Childhood Alzheimer’s.”
This is every parent’s worst nightmare… we never would have guessed in a million years this was the underlying issue. Unfortunately, even with advancement in science and medicine there is currently no treatment and no cure.
AJ & Sean are missing an enzyme, which is essential in breaking down certain sugar molecules. A normal person’s body can break down these molecules, but children with Sanfilippo cannot. Think of a bathtub. You have a drain plug and overflow drain that when working properly will let the water (sugar molecules) out. In children with Sanfilippo that “plug and overflow” are glued shut and the water will continue to build-up until it starts flowing over the walls, spilling out into the bathroom and other rooms of the house, through the floors and joists, ultimately affecting the entire house.
Sanfilippo is a degenerative condition where the mind and body start failing at varying stages. Their cognitive level is expected to peak around the age of 4. Their ability to talk will start to fade away soon, and eventually they won’t be able to walk, chew, or swallow food, leading to death in their teen years or earlier.
There is currently only one gene therapy trial open to children with MPS IIIB. In order to participate in it, one of the criteria is to be free of an antibody called AAV9 which comes after being exposed to a virus like the common cold. The gene therapy is attached to this virus so it’s imperative they don’t have the antibody.
We have both good and bad news. Bad news goes first: Unfortunately, AJ has the antibody and cannot participate in the trial, so there is currently nothing to help him other than some possible medicines to alleviate symptoms, but nothing to cure or prolong his life. This was extremely hard for us as parents to hear that our sweet, fun loving little boy was going to have to live out the course of this disease.
For the good news: Sean does not have the AAV9 antibody and currently qualifies for the trial. Normally, the group leading the trial would invite us out right away for preliminary testing to make sure Sean is physically capable of handling such a procedure, but it is delayed right now as the hospital has to work out some things with the regulatory groups. We hope it will start soon.
This GoFundMe is to collect personal funds for AJ & Sean that will be put in a trust and go toward medical expenses as they progress through this disease and any assistive devices/equipment along the way. While our boys are still able to run around like normal children, we would like to use these funds to help give them experiences that they would enjoy (i.e. waterparks, theme parks, museums, ball games). If at the end of their lives there are any funds leftover, those funds will be donated to the Cure Sanfilippo Foundation.
If you would like to support research into Sanfilippo Syndrome and potentially life-saving clinical trials that AJ & Sean might have a chance to participate, you can make a tax-deductible donation to Cure Sanfilippo Foundation in their honor at http://CureSanfilippoFoundation.org/AJ-Sean/.
If you don’t know our boys, they are the most fun-loving, sports-enthused, smiley, huggy-kissy, belly-laughing boys! They are so full of life and love their family and friends with a passion. In order to spread awareness, keep family and friends updated, and hopefully find a cure, we created a Facebook page called “The Battle Is On For AJ & Sean.” The definition of “battle” is to fight or struggle tenaciously to achieve or resist something… and that is exactly what we plan on doing. Please like and share with the world.
Our doctor told us, "I'm sorry, but there's nothing we can do.” Our whole world stopped, we couldn’t breathe and felt like we were dying ourselves as we processed the news. It's excruciatingly painful and absolutely devastating.
Our boys were diagnosed with Sanfilippo Syndrome, a genetic degenerative brain disease caused by a missing enzyme. It’s a horrible disease we had never heard of before.
We are hoping you will donate toward their medical expenses and to help us provide a life full of many experiences before they depart this world.
Our full story is below...
For years, we’ve been struggling to find out what’s been going on with our oldest son AJ. We have been dealing with very poor sleep, speech delay, hearing loss, hyperactivity, behavior issues, potential seizures, etc. We've had doctor appointment after doctor appointment since he was 2 years old. Sean also has hearing loss and major speech delay, plus had seizures when he was about a year-and-a-half old. He's been working with speech therapists since he was 2 years old.
Due to our struggles, someone recommended we see a geneticist just to make sure there wasn’t an underlying syndrome, so we did. In November of 2020, we found out that both of our sweet boys, AJ (5) and Sean (3), have a very rare and fatal inherited genetic disorder called Sanfilippo Syndrome Type B or MPS IIIB, or “Childhood Alzheimer’s.”
This is every parent’s worst nightmare… we never would have guessed in a million years this was the underlying issue. Unfortunately, even with advancement in science and medicine there is currently no treatment and no cure.
AJ & Sean are missing an enzyme, which is essential in breaking down certain sugar molecules. A normal person’s body can break down these molecules, but children with Sanfilippo cannot. Think of a bathtub. You have a drain plug and overflow drain that when working properly will let the water (sugar molecules) out. In children with Sanfilippo that “plug and overflow” are glued shut and the water will continue to build-up until it starts flowing over the walls, spilling out into the bathroom and other rooms of the house, through the floors and joists, ultimately affecting the entire house.
Sanfilippo is a degenerative condition where the mind and body start failing at varying stages. Their cognitive level is expected to peak around the age of 4. Their ability to talk will start to fade away soon, and eventually they won’t be able to walk, chew, or swallow food, leading to death in their teen years or earlier.
There is currently only one gene therapy trial open to children with MPS IIIB. In order to participate in it, one of the criteria is to be free of an antibody called AAV9 which comes after being exposed to a virus like the common cold. The gene therapy is attached to this virus so it’s imperative they don’t have the antibody.
We have both good and bad news. Bad news goes first: Unfortunately, AJ has the antibody and cannot participate in the trial, so there is currently nothing to help him other than some possible medicines to alleviate symptoms, but nothing to cure or prolong his life. This was extremely hard for us as parents to hear that our sweet, fun loving little boy was going to have to live out the course of this disease.
For the good news: Sean does not have the AAV9 antibody and currently qualifies for the trial. Normally, the group leading the trial would invite us out right away for preliminary testing to make sure Sean is physically capable of handling such a procedure, but it is delayed right now as the hospital has to work out some things with the regulatory groups. We hope it will start soon.
This GoFundMe is to collect personal funds for AJ & Sean that will be put in a trust and go toward medical expenses as they progress through this disease and any assistive devices/equipment along the way. While our boys are still able to run around like normal children, we would like to use these funds to help give them experiences that they would enjoy (i.e. waterparks, theme parks, museums, ball games). If at the end of their lives there are any funds leftover, those funds will be donated to the Cure Sanfilippo Foundation.
If you would like to support research into Sanfilippo Syndrome and potentially life-saving clinical trials that AJ & Sean might have a chance to participate, you can make a tax-deductible donation to Cure Sanfilippo Foundation in their honor at http://CureSanfilippoFoundation.org/AJ-Sean/.
If you don’t know our boys, they are the most fun-loving, sports-enthused, smiley, huggy-kissy, belly-laughing boys! They are so full of life and love their family and friends with a passion. In order to spread awareness, keep family and friends updated, and hopefully find a cure, we created a Facebook page called “The Battle Is On For AJ & Sean.” The definition of “battle” is to fight or struggle tenaciously to achieve or resist something… and that is exactly what we plan on doing. Please like and share with the world.
Organizer
Tracie Wiegert
Organizer
Johnston, IA