Our son is sick
Dear Max Fans,
It is with much surprise, disappointment, and more than a little despair that we find ourselves with the task of updating one and all on the health of our son, Max. This will be a very long email that we must ask you to read. He is very sick.
He has recently been diagnosed with an incurable genetic disorder called MPS (mucopolysaccharidosis). There are many varieties of this disorder but the doctors so far are most suspicious of MPS1 or more commonly "Hurlers Syndrome". All of the variations of MPS are extremely devastating, causing the breakdown of all systems in the body. Patients do not grow properly, some never walk or talk, and almost all end up severely mentally retarded, blind, and deaf. While some strains are considered "mild" almost all patients with this disease do not reach adulthood. Death in the very early years is common. The urine analysis and Max's symptoms so far point to MPS Type 1, but Type 2 and 7 are not ruled out yet.
This disease is very rare, with no more than 1 in 100,000 children affected. Therefore, there is almost no treatment available because there is little funding and little research being done. While Hurlers Syndrome is considered the most devastating, it is the ONLY disorder with therapy approved by the FDA (approved less than a week ago, April 30, 2003). While it will be another couple of weeks before the blood work is finished, we are hoping at this time that Max does have MPS1. This treatment will help to slow some of the breakdown, but it is not a cure. One simply does not exist.
To put it plainly, we are heartbroken. While we never would have imagined life without our little guy, it is an excruciating reality that we now face.
Max's health history leading up to these days may be of some interest to all of you, but it is simply too long to list. Of the utmost concern now is the possible need to "shunt" his brain to take care of excess fluid (hydrocephalus). In addition, Max may need spinal surgery to take care of improper growth of his trunk and back (he has kyphosis - a hunched back). After these concerns, we are sure to encounter more.
We are well aware that this is probably a little overwhelming for you to take in (especially those of you we haven't written to in so long). But we are probably going to need to lean on everyone on this list for quite some time. We have set our goals much smaller for Max, and we are trying our best to not just enjoy him every day, but to celebrate him.
What can you do? We are writing to all of you because we need you. We don't know how to save our son, and we don't expect that you do either. We have heard "Just let us know if we can do anything." We have to warn you, if you say this we will take you up on it.
Besides tending to his daily health needs, we feel the best way we can help Max is to aid in the funding and research of MPS disorders. We have many talented, resourceful friends who in turn know many more people who we hope can lend their skills to our cause. Our plan for now is as follows:
identify MPS experts who can possibly treat Max
learn the legalities of fundraising
solicit ideas for raising funds and awareness of MPS *
* on the most simplistic level, this is the easiest thing for you to do: If you hear of a "Run for MPS" or a charity event with this disease attached, please find out more, and please, please contribute in some way!!
Some ideas we will be working towards are:
approach NU's Dance Marathon charity event
organize a charity golf outing
contact local TV news stations and health reporters for MPS segments
make public service announcements on radio shows
hold fund raisers at churches
If you can think of anything please let us know. Once we have our ideas we will be taking volunteers to execute them. We'd like to host a brainstorming meeting as well.
If you would like more information on MPS please visit the following web sites or contact us. We are still learning about the disease every day.
http://www.mps1disease.com/patient/aboutmpsi/about_mpsi.asp
(this is specifically geared towards MPS1, and if you click on Signs and Symptoms, you will read most of what little Max has been going through)
http://www.mpssociety.org/mps-disorders.html
(for an overview of the disorders from a site geared toward families afflicted with this disease)
http://www.mpssociety.org/mps-disorders.html
(for a much more in depth definition)
For a dose of reality, we encourage you to take the time do download a large pdf file that has been provided by a pharmaceutical company to take you through MPS1. This includes pictures of kids heavily afflicted. We hope you DO NOT find these disturbing to look at. It can be found here: http://www.mps1disease.com/healthcare/resources/res_slide_kit.asp
** this is kind of big so you are best to download it to your hard drive first.
For inspiration, we'd like to direct you to The Ryan Foundation, a group set up by a father of two children with MPS. He began by raising enough money to start the first human trial of Enzyme Replacement Therapy. His funding efforts are what led directly to the only treatment available for MPS. He is a true inspiration, and a ray of hope for our fight ahead.
http://www.ryanfoundation.org/
Please click on the history link to read his amazing story.
Thanks so much for your time. Hope to hear from you soon.
Sincerely,
Mike, Margaret, Grace and Max
PS Please forward this email to anyone you know who could be of help. We really believe in six degrees of separation, so if anyone of you by some crazy extension, are connected to anyone doing research on MPS or genetics or "storage diseases", etc, please let us know.
It is with much surprise, disappointment, and more than a little despair that we find ourselves with the task of updating one and all on the health of our son, Max. This will be a very long email that we must ask you to read. He is very sick.
He has recently been diagnosed with an incurable genetic disorder called MPS (mucopolysaccharidosis). There are many varieties of this disorder but the doctors so far are most suspicious of MPS1 or more commonly "Hurlers Syndrome". All of the variations of MPS are extremely devastating, causing the breakdown of all systems in the body. Patients do not grow properly, some never walk or talk, and almost all end up severely mentally retarded, blind, and deaf. While some strains are considered "mild" almost all patients with this disease do not reach adulthood. Death in the very early years is common. The urine analysis and Max's symptoms so far point to MPS Type 1, but Type 2 and 7 are not ruled out yet.
This disease is very rare, with no more than 1 in 100,000 children affected. Therefore, there is almost no treatment available because there is little funding and little research being done. While Hurlers Syndrome is considered the most devastating, it is the ONLY disorder with therapy approved by the FDA (approved less than a week ago, April 30, 2003). While it will be another couple of weeks before the blood work is finished, we are hoping at this time that Max does have MPS1. This treatment will help to slow some of the breakdown, but it is not a cure. One simply does not exist.
To put it plainly, we are heartbroken. While we never would have imagined life without our little guy, it is an excruciating reality that we now face.
Max's health history leading up to these days may be of some interest to all of you, but it is simply too long to list. Of the utmost concern now is the possible need to "shunt" his brain to take care of excess fluid (hydrocephalus). In addition, Max may need spinal surgery to take care of improper growth of his trunk and back (he has kyphosis - a hunched back). After these concerns, we are sure to encounter more.
We are well aware that this is probably a little overwhelming for you to take in (especially those of you we haven't written to in so long). But we are probably going to need to lean on everyone on this list for quite some time. We have set our goals much smaller for Max, and we are trying our best to not just enjoy him every day, but to celebrate him.
What can you do? We are writing to all of you because we need you. We don't know how to save our son, and we don't expect that you do either. We have heard "Just let us know if we can do anything." We have to warn you, if you say this we will take you up on it.
Besides tending to his daily health needs, we feel the best way we can help Max is to aid in the funding and research of MPS disorders. We have many talented, resourceful friends who in turn know many more people who we hope can lend their skills to our cause. Our plan for now is as follows:
identify MPS experts who can possibly treat Max
learn the legalities of fundraising
solicit ideas for raising funds and awareness of MPS *
* on the most simplistic level, this is the easiest thing for you to do: If you hear of a "Run for MPS" or a charity event with this disease attached, please find out more, and please, please contribute in some way!!
Some ideas we will be working towards are:
approach NU's Dance Marathon charity event
organize a charity golf outing
contact local TV news stations and health reporters for MPS segments
make public service announcements on radio shows
hold fund raisers at churches
If you can think of anything please let us know. Once we have our ideas we will be taking volunteers to execute them. We'd like to host a brainstorming meeting as well.
If you would like more information on MPS please visit the following web sites or contact us. We are still learning about the disease every day.
http://www.mps1disease.com/patient/aboutmpsi/about_mpsi.asp
(this is specifically geared towards MPS1, and if you click on Signs and Symptoms, you will read most of what little Max has been going through)
http://www.mpssociety.org/mps-disorders.html
(for an overview of the disorders from a site geared toward families afflicted with this disease)
http://www.mpssociety.org/mps-disorders.html
(for a much more in depth definition)
For a dose of reality, we encourage you to take the time do download a large pdf file that has been provided by a pharmaceutical company to take you through MPS1. This includes pictures of kids heavily afflicted. We hope you DO NOT find these disturbing to look at. It can be found here: http://www.mps1disease.com/healthcare/resources/res_slide_kit.asp
** this is kind of big so you are best to download it to your hard drive first.
For inspiration, we'd like to direct you to The Ryan Foundation, a group set up by a father of two children with MPS. He began by raising enough money to start the first human trial of Enzyme Replacement Therapy. His funding efforts are what led directly to the only treatment available for MPS. He is a true inspiration, and a ray of hope for our fight ahead.
http://www.ryanfoundation.org/
Please click on the history link to read his amazing story.
Thanks so much for your time. Hope to hear from you soon.
Sincerely,
Mike, Margaret, Grace and Max
PS Please forward this email to anyone you know who could be of help. We really believe in six degrees of separation, so if anyone of you by some crazy extension, are connected to anyone doing research on MPS or genetics or "storage diseases", etc, please let us know.
posted by Mike Ciacciarelli
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