Hi everyone,
My 4 year old son (Reed) has a rare genetic condition called MPS IIIA. He is missing an enzyme the body needs and this causes a bunch of waste material to store up in the cells all over his body (but primarily in the brain), since he is unable to break it down to get rid of it.
Currently there is no approved medications to treat this condition and life expectancy is only into the very early teen years with the type and sever mutations he has, the average life span for type A's is 12 years old. While we are devastated with this diagnosis, hope is on the horizon if it can just get here fast enough for Reed that he has not developed too much damage to be fixable, he might just have a different fate then is usual.
At least this is what we are praying for. There is currently a phase I/II trial going on in the UK with 12 kids that are receiving this missing enzyme to their brains via an intrathecal port placed into their spines. Once or twice a month they go to the hospital for their infusion of the enzyme and it travels from the spinal fluid into the brain. The trail will not be over until mid 2012 and no information is being released yet, but we are very hopeful this will work as a similar trail for MPSII (a sister disease) started a year ahead and is delivered the same way and it is having at least some success as reported by a few parents here in the US that have their kids in that trial. 
Background: Reed was a normal baby and toddler until about the age of 2.5 when we started noticing his peers pass him up. He wasn't the fastest learner to start with, but was hitting all his milestones until his 3rd birthday. The short version is after talking things over with his pediatrician and getting genetic tests run on him we discovered he had MPS IIIA also know as Sanfilippo syndrome type A. Basically once too much waste product builds up, the brains signals get all messed up and the child can't learn much anymore, they stay stuck in this toddler mentality for some number of years then start regression. First unlearning their vocabulary words until they have no speech left, then unlearning how to walk and swallow their food until they are in a wheelchair and on feeding tubes, eventually everything is shut down completely.
As this disease is progressive and the child's abilities become more and more abnormal each year we chose to plan Reed's MAW trip now while he can enjoy it best.
Several of the behaviors are like that of an autistic child, several are like that of a toddler who can't learn. For example he doesn't have much in the way of reasoning skills, so he can't understand when he can't have his way, so he still has tantrums like a small toddler at times. On top of that he is big for his age, so he looks 1-2 years older then he is!
His big sister, Aziza (8), is the best!! She is so loving and patient with him and as we often all have to bend to Reed's needs to prevent melt downs she is seldom getting what is fair treatment. Ex: Reed always has to have the TV on his shows, he has to pick the food choices he wants, we are regularly having to go home from something fun for her b/c he can't handle it anymore, and she often doesn't get normal 8 yo. activities b/c I am always taking him to his therapies or doctor appointments or b/c it is something he can't do and will not sit through for her to do. Honestly Reed's condition affects my daughters life the most right now as Reed has no idea anything is wrong with him or what will happen next to him. She is such a lovely person it is unreal and I am so thankful for her wonderful personality. She engages him, bends to almost all his needs without complaining, and often volunteers to read books to him to try to help get him to sleep at night, and she understands what is happening to him and has to live with that knowledge.
I am so thankful that MAW offers these magical moments for the children that are in the life threatening situation and that the other family members get to participate with them.
I really look forward to this special trip and the memories we will be able to treasure forever from it. O-and I forgot to mention Reed will celebrate his 5th birthday on the ship! How magical will that be!!!! 
I have been reading on the Dis boards the last few days trying to learn as much as possible to make sure I am prepared to sprinkle a bit of momma pixie dust in along with the Disney and MAW pixie dust! So far this is what I have learned: I need to decorate the cabin door, join a FE group for our cruise, figure out how to make a FE
rotfl
, get a copy of the Pass Porters open mouse book, and bring pillow cases and a picture matte with me to drop off at GS the first day along with some candy for the nice characters! What else have I not learned yet that will make this trip all that much more magical/memorable?
I look forward to hearing your ideas and meeting some of the wonderful Disney fanatics on this board!
Thanks,
Zezee (DH is named Roy)
My 4 year old son (Reed) has a rare genetic condition called MPS IIIA. He is missing an enzyme the body needs and this causes a bunch of waste material to store up in the cells all over his body (but primarily in the brain), since he is unable to break it down to get rid of it.
Currently there is no approved medications to treat this condition and life expectancy is only into the very early teen years with the type and sever mutations he has, the average life span for type A's is 12 years old. While we are devastated with this diagnosis, hope is on the horizon if it can just get here fast enough for Reed that he has not developed too much damage to be fixable, he might just have a different fate then is usual.
At least this is what we are praying for. There is currently a phase I/II trial going on in the UK with 12 kids that are receiving this missing enzyme to their brains via an intrathecal port placed into their spines. Once or twice a month they go to the hospital for their infusion of the enzyme and it travels from the spinal fluid into the brain. The trail will not be over until mid 2012 and no information is being released yet, but we are very hopeful this will work as a similar trail for MPSII (a sister disease) started a year ahead and is delivered the same way and it is having at least some success as reported by a few parents here in the US that have their kids in that trial. Background: Reed was a normal baby and toddler until about the age of 2.5 when we started noticing his peers pass him up. He wasn't the fastest learner to start with, but was hitting all his milestones until his 3rd birthday. The short version is after talking things over with his pediatrician and getting genetic tests run on him we discovered he had MPS IIIA also know as Sanfilippo syndrome type A. Basically once too much waste product builds up, the brains signals get all messed up and the child can't learn much anymore, they stay stuck in this toddler mentality for some number of years then start regression. First unlearning their vocabulary words until they have no speech left, then unlearning how to walk and swallow their food until they are in a wheelchair and on feeding tubes, eventually everything is shut down completely.
As this disease is progressive and the child's abilities become more and more abnormal each year we chose to plan Reed's MAW trip now while he can enjoy it best.
Several of the behaviors are like that of an autistic child, several are like that of a toddler who can't learn. For example he doesn't have much in the way of reasoning skills, so he can't understand when he can't have his way, so he still has tantrums like a small toddler at times. On top of that he is big for his age, so he looks 1-2 years older then he is!
His big sister, Aziza (8), is the best!! She is so loving and patient with him and as we often all have to bend to Reed's needs to prevent melt downs she is seldom getting what is fair treatment. Ex: Reed always has to have the TV on his shows, he has to pick the food choices he wants, we are regularly having to go home from something fun for her b/c he can't handle it anymore, and she often doesn't get normal 8 yo. activities b/c I am always taking him to his therapies or doctor appointments or b/c it is something he can't do and will not sit through for her to do. Honestly Reed's condition affects my daughters life the most right now as Reed has no idea anything is wrong with him or what will happen next to him. She is such a lovely person it is unreal and I am so thankful for her wonderful personality. She engages him, bends to almost all his needs without complaining, and often volunteers to read books to him to try to help get him to sleep at night, and she understands what is happening to him and has to live with that knowledge.
I am so thankful that MAW offers these magical moments for the children that are in the life threatening situation and that the other family members get to participate with them.
I really look forward to this special trip and the memories we will be able to treasure forever from it. O-and I forgot to mention Reed will celebrate his 5th birthday on the ship! How magical will that be!!!! I have been reading on the Dis boards the last few days trying to learn as much as possible to make sure I am prepared to sprinkle a bit of momma pixie dust in along with the Disney and MAW pixie dust! So far this is what I have learned: I need to decorate the cabin door, join a FE group for our cruise, figure out how to make a FE
rotfl, get a copy of the Pass Porters open mouse book, and bring pillow cases and a picture matte with me to drop off at GS the first day along with some candy for the nice characters! What else have I not learned yet that will make this trip all that much more magical/memorable? I look forward to hearing your ideas and meeting some of the wonderful Disney fanatics on this board!
Thanks,
Zezee (DH is named Roy)
Hi ... just came upon your PTR and you have a beautiful family.
