MPS Test Results
Dear Max fans,
We would like to thank all of you for the many emails and calls we have received filled with well wishes and good ideas for funding raising.
The results of Max's blood tests came back today positive for MPS Type 1, also known as Hurler Syndrome. Though this is the most severe type of MPS, it is currently the only one with hopeful treatment. As we mentioned in our last email, the FDA just approved enzyme replacement therapy (Aldurazyme) for MPS 1 on April 30th. Max's tests showed that his enzyme level was zero, so therapy is needed badly.
We are meeting with our geneticist on Monday to discuss Max's treatment options. We have already been in contact with the drug company that produces Aldurazyme and our doctor is coordinating what needs to be done. As Dr. Jones described it, Max will be a "pioneer," as the drug has never been given to anyone under the age of 5.
Max will be hospitalized for his weekly 3-4 hour IV treatments and watched closely for reactions. A central line will be placed in him for easy IV hook up, similar to chemotherapy patients. A treatment center has not yet been established in Chicago, so there is work yet to be done before he can begin therapy. Staff has to be trained, etc., etc. The drug company will also be working with our insurance company as it is extremely expensive. We read that costs may be as high as $100,000 per year.
The geneticist will also be discussing bone marrow transplant with us. Until recently, BMT was the only treatment available, and it is very risky and often unsuccessful. We will also be testing Grace for the disease.
Max saw his neurologist last week for his hydrocephalus (fluid on the brain). His opinion was that the situation was not critical and we could wait to perform surgery. Max will be seeing a neurosurgeon this week for a second opinion. Max was also fitted for a back brace today, which involved the very messy and unpleasant task of wrapping him in a plaster cast. It should be ready in about 2 weeks. We hope it will aid him in sitting, standing, walking and enjoying toys.
Despite all of this mess Max has made some wonderful accomplishments this week. Last Friday he began skooching forward on his belly. He also can get up onto his knees for a brief period on his own. We are hopeful crawling will happen soon as well. He is also taking table foods a bit better, and enjoys standing in his crib while holding onto the railing.
We are tentatively planning our volunteer/fundraising idea meeting the weekend of May 24th. We will keep you posted of the details.
Thanks again for your encouragement.
Mike, Margaret, Grace and Max
We would like to thank all of you for the many emails and calls we have received filled with well wishes and good ideas for funding raising.
The results of Max's blood tests came back today positive for MPS Type 1, also known as Hurler Syndrome. Though this is the most severe type of MPS, it is currently the only one with hopeful treatment. As we mentioned in our last email, the FDA just approved enzyme replacement therapy (Aldurazyme) for MPS 1 on April 30th. Max's tests showed that his enzyme level was zero, so therapy is needed badly.
We are meeting with our geneticist on Monday to discuss Max's treatment options. We have already been in contact with the drug company that produces Aldurazyme and our doctor is coordinating what needs to be done. As Dr. Jones described it, Max will be a "pioneer," as the drug has never been given to anyone under the age of 5.
Max will be hospitalized for his weekly 3-4 hour IV treatments and watched closely for reactions. A central line will be placed in him for easy IV hook up, similar to chemotherapy patients. A treatment center has not yet been established in Chicago, so there is work yet to be done before he can begin therapy. Staff has to be trained, etc., etc. The drug company will also be working with our insurance company as it is extremely expensive. We read that costs may be as high as $100,000 per year.
The geneticist will also be discussing bone marrow transplant with us. Until recently, BMT was the only treatment available, and it is very risky and often unsuccessful. We will also be testing Grace for the disease.
Max saw his neurologist last week for his hydrocephalus (fluid on the brain). His opinion was that the situation was not critical and we could wait to perform surgery. Max will be seeing a neurosurgeon this week for a second opinion. Max was also fitted for a back brace today, which involved the very messy and unpleasant task of wrapping him in a plaster cast. It should be ready in about 2 weeks. We hope it will aid him in sitting, standing, walking and enjoying toys.
Despite all of this mess Max has made some wonderful accomplishments this week. Last Friday he began skooching forward on his belly. He also can get up onto his knees for a brief period on his own. We are hopeful crawling will happen soon as well. He is also taking table foods a bit better, and enjoys standing in his crib while holding onto the railing.
We are tentatively planning our volunteer/fundraising idea meeting the weekend of May 24th. We will keep you posted of the details.
Thanks again for your encouragement.
Mike, Margaret, Grace and Max
posted by Mike Ciacciarelli
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