How Emma Survived

Emma's Survival

Emma's journey is chronicled in her journal dating back to January 2004. For a synopsis, please read Emma’s story.

Possible Key Points to Emma's Survival

Correct and Early Diagnosis

Emma was tested for MLD multiple times and had different results each time It was very important that testing for MLD was done by a lab that tested for MLD frequently. Emma’s family was
tested by Dr. Wenger.

Timing is Everything

Since Emma had the juvenile form of MLD, Emma didn’t have much time before something had to done. One treatment option presented was a bone marrow transplant using either a match from Emma’s mother (9 of 10 - that is almost a perfect match), cord blood stem cells or peripheral stem cells. Another option was enzyme replacement, however there were no companies ready with an MLD enzyme replacement solution. (Zymnex is doing trials now). Since transplant treatment options take several months to slow or stabilize the progression of the disorder within a child, Emma needed to receive one of those transplant treatments as soon as possible. Emma's family chose a cord blood transplant at Duke.

Attitude

Emma had a winning attiude with a realistic view that had a postive psychoneurioimmunomodulatory effect. Emma approached every turn with a "whatever it took" attitude. This continued for two years.

Cord blood stem cells

Duke University was chosen (72% survival from recent study) and specifically Dr. Kurtzberg because Dr. K was on top of everything, responsive, down to earth and strongly felt that using more immature cells from umbilical cord blood donated from mothers after birth was the best bet. She felt that these cells would help stabilize Emma. Other information about a regular BMT seemed to show that it would help stabilize the brain but the peripheral nerves would continue to degenerate. The belief was that the cord blood stem cells would stabilize both. Emma is hoping her peripheral nerves will remain stable, but she'll have to wait and see. A recent research paper suggests that "Cord blood transplantation should be considered as frontline therapy for young patients with lysosomal and peroxisomal storage diseases."

Stabilization

At the two year point, Emma continues to be stable with no further progression. This Foundation is planning on actively working with Duke and other facilities for repairing the damage that has been done.


Emma's Survival Emma's journey is chronicled in her journal dating back to January 2004. For a synopsis, please read Emma’s story. Possible Key Points to Emma's Survival Correct and Early Diagnosis Emma was tested for MLD multiple times and had different results each time It was very important that testing for MLD was done by a lab that tested for MLD frequently. Emma’s family was tested by Dr. Wenger. Timing is Everything Since Emma had the juvenile form of MLD, Emma didn’t have much time before something had to done. One treatment option presented was a bone marrow transplant using either a match from Emma’s mother (9 of 10 - that is almost a perfect match), cord blood stem cells or peripheral stem cells. Another option was enzyme replacement, however there were no companies ready with an MLD enzyme replacement solution. (Zymnex is doing trials now). Since transplant treatment options take several months to slow or stabilize the progression of the disorder within a child, Emma needed to receive one of those transplant treatments as soon as possible. Emma's family chose a cord blood transplant at Duke. Attitude Emma had a winning attiude with a realistic view that had a postive psychoneurioimmunomodulatory effect. Emma approached every turn with a "whatever it took" attitude. This continued for two years. Cord blood stem cells Duke University was chosen (72% survival from recent study) and specifically Dr. Kurtzberg because Dr. K was on top of everything, responsive, down to earth and strongly felt that using more immature cells from umbilical cord blood donated from mothers after birth was the best bet. She felt that these cells would help stabilize Emma. Other information about a regular BMT seemed to show that it would help stabilize the brain but the peripheral nerves would continue to degenerate. The belief was that the cord blood stem cells would stabilize both. Emma is hoping her peripheral nerves will remain stable, but she'll have to wait and see. A recent research paper suggests that "Cord blood transplantation should be considered as frontline therapy for young patients with lysosomal and peroxisomal storage diseases." Stabilization At the two year point, Emma continues to be stable with no further progression. This Foundation is planning on actively working with Duke and other facilities for repairing the damage that has been done.
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