ERT and Transplant
Dear Max Fans,
Well, it looks like things have changed drastically. It seems we were misguided in our hopes for enzyme replacement therapy. ERT is mainly for children with:
less severe forms of Hurlers Syndrome, whose intelligence is not as affected
children who have passed the age for bone marrow/stem cell/cord blood transplant
The problem with ERT is that it does not pass into the brain. If Max were to take the drug it would improve his organs and systems but he would continue to suffer severe neurological deterioration. We have been advised that a stem cell transplant is our only real option for him. The effectiveness of ERT post transplant is currently being studied.
Today we had a long meeting with members of the transplant team at Children's Memorial Hospital and another meeting with the geneticist. http://www.childrensmemorial.org/depts/stemcell/default.asp
While Children's Memorial has not performed as many stem cell transplants on Hurler's kids as Duke University or University of Minnesota hospitals, it is a world leader in stem cell transplants for children and in the last few years has become a leading location for kids with Hurler's Syndrome. Today we were introduced to a team and a facility that we feel will be able to work exceedingly well with Max and ourselves as we take this next step. We are so blessed that we have such a wonderful resource so close to us.
That said, this is still going to be a very difficult procedure. Before transplant, Max will get a full work-up on just about every system in his body to make sure that even though he's had some problems, there is nothing to preclude going ahead with the transplant. In addition, because he is an MPS kid, he will need to get his tonsils and adenoids out. He also will need to have about 10 other appointments. If all of this happens and a suitable supply of stem cells can be found (they can be found in a sibling's blood or marrow, unrelated umbilical cord blood, or in unrelated bone marrow), then Max will be ready for chemotherapy to wipe out his current cells that do not produce the enzyme he needs. The new stem cells are put in, and then they begin to rebuild his immune system and they contain the ability to produce the enzyme that he always lacked.
There are a lot of factors that will determine the success of the stem cell transplant, but this is the ideal scenario:
1. Grace is a donor match (and does not have the disease - she was tested
today) -- if not sibling, then the next best is cord blood, followed by unrelated bone marrow of a young, healthy male.
2. Max survives the chemo needed to kill his immune system so the new cells can take over. Any slight infection can be deadly when his immune system is so suppressed. At this point, Max will be in isolation at the hospital.
3. Max's body accepts the new cells, they begin to grow and produce the enzyme lacking in Hurler's kids, thereby arresting the disease
4. Max experiences little to no graft vs. host disease
5. We all live happily ever after.
The survival rate for the above "best-case" scenario is about 67-85% which is very good for stem cell transplants overall. That is defined by surviving 1 year post-BMT. As horrible as his diagnosis is, we are so lucky to have been given the news while he is still so young, and his neurological problems have been limited.
Though there is a chance that Max will not survive this treatment, we are concentrating on the probability that he will survive it. Without treatment, as you all should know from our last letter, Max will certainly die. We have a window in the next few weeks and months to try this procedure and we are determined to give our son the very best chance at life. We are so encouraged by some of the stories we've been reading about Hurler's kids who have survived transplant and there is even a local family that mentions us on their most recent update. Please read, this is the exact outcome we are hoping for our little guy: http://www.missmollyb.com/ Another success is Loren's Place: http://www.crystalisland.com/loren/
The doctors are hopeful that Max will be approved, a donor will be found, and transplant will occur in the next 4-6 weeks (Whew!).
As we near transplant we are likely to be moving into Kohl's House which is housing set up for parents of transplant kids. http://www.childrensmemorial.org/depts/siragusa/kohls.asp
Please keep thinking of us and keep your thoughts and prayers for us coming. We are on this path precisely because this geneticist was recommended by someone on our MAX POWER list.
And for those of who have asked what you can do, please encourage yourself or our friends having kids to collect and store your child's umbilical cord blood, you have no idea who you might be helping.
As for the volunteer meeting this weekend, we will have to put it on hold for a while. There is so much to do in the next few weeks (appointments, education, ENJOYING OUR FAMILY BEFORE ALL OF THIS BEGINS, etc.) that there simply isn't time.
Thanks again and we will continue to keep you posted.
Well, it looks like things have changed drastically. It seems we were misguided in our hopes for enzyme replacement therapy. ERT is mainly for children with:
less severe forms of Hurlers Syndrome, whose intelligence is not as affected
children who have passed the age for bone marrow/stem cell/cord blood transplant
The problem with ERT is that it does not pass into the brain. If Max were to take the drug it would improve his organs and systems but he would continue to suffer severe neurological deterioration. We have been advised that a stem cell transplant is our only real option for him. The effectiveness of ERT post transplant is currently being studied.
Today we had a long meeting with members of the transplant team at Children's Memorial Hospital and another meeting with the geneticist. http://www.childrensmemorial.org/depts/stemcell/default.asp
While Children's Memorial has not performed as many stem cell transplants on Hurler's kids as Duke University or University of Minnesota hospitals, it is a world leader in stem cell transplants for children and in the last few years has become a leading location for kids with Hurler's Syndrome. Today we were introduced to a team and a facility that we feel will be able to work exceedingly well with Max and ourselves as we take this next step. We are so blessed that we have such a wonderful resource so close to us.
That said, this is still going to be a very difficult procedure. Before transplant, Max will get a full work-up on just about every system in his body to make sure that even though he's had some problems, there is nothing to preclude going ahead with the transplant. In addition, because he is an MPS kid, he will need to get his tonsils and adenoids out. He also will need to have about 10 other appointments. If all of this happens and a suitable supply of stem cells can be found (they can be found in a sibling's blood or marrow, unrelated umbilical cord blood, or in unrelated bone marrow), then Max will be ready for chemotherapy to wipe out his current cells that do not produce the enzyme he needs. The new stem cells are put in, and then they begin to rebuild his immune system and they contain the ability to produce the enzyme that he always lacked.
There are a lot of factors that will determine the success of the stem cell transplant, but this is the ideal scenario:
1. Grace is a donor match (and does not have the disease - she was tested
today) -- if not sibling, then the next best is cord blood, followed by unrelated bone marrow of a young, healthy male.
2. Max survives the chemo needed to kill his immune system so the new cells can take over. Any slight infection can be deadly when his immune system is so suppressed. At this point, Max will be in isolation at the hospital.
3. Max's body accepts the new cells, they begin to grow and produce the enzyme lacking in Hurler's kids, thereby arresting the disease
4. Max experiences little to no graft vs. host disease
5. We all live happily ever after.
The survival rate for the above "best-case" scenario is about 67-85% which is very good for stem cell transplants overall. That is defined by surviving 1 year post-BMT. As horrible as his diagnosis is, we are so lucky to have been given the news while he is still so young, and his neurological problems have been limited.
Though there is a chance that Max will not survive this treatment, we are concentrating on the probability that he will survive it. Without treatment, as you all should know from our last letter, Max will certainly die. We have a window in the next few weeks and months to try this procedure and we are determined to give our son the very best chance at life. We are so encouraged by some of the stories we've been reading about Hurler's kids who have survived transplant and there is even a local family that mentions us on their most recent update. Please read, this is the exact outcome we are hoping for our little guy: http://www.missmollyb.com/ Another success is Loren's Place: http://www.crystalisland.com/loren/
The doctors are hopeful that Max will be approved, a donor will be found, and transplant will occur in the next 4-6 weeks (Whew!).
As we near transplant we are likely to be moving into Kohl's House which is housing set up for parents of transplant kids. http://www.childrensmemorial.org/depts/siragusa/kohls.asp
Please keep thinking of us and keep your thoughts and prayers for us coming. We are on this path precisely because this geneticist was recommended by someone on our MAX POWER list.
And for those of who have asked what you can do, please encourage yourself or our friends having kids to collect and store your child's umbilical cord blood, you have no idea who you might be helping.
As for the volunteer meeting this weekend, we will have to put it on hold for a while. There is so much to do in the next few weeks (appointments, education, ENJOYING OUR FAMILY BEFORE ALL OF THIS BEGINS, etc.) that there simply isn't time.
Thanks again and we will continue to keep you posted.
posted by Mike Ciacciarelli
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