Emma's Story & Foundation

Emma's Story

Emma is currently 10 ½ years old. She is one of the sweetest, most loving girls anyone has ever met. We would like to share how we got to where we are now – Emma has stabilized….

As a young child, Emma’s parents noticed that Emma would sometimes just be in her own world, “Emma’s world”, as they would often describe it. As Emma got older, different challenges seemed to appear. Emma started to struggle in school. She ended up repeating first grade and was more successful the second time around.

Emma was initially diagnosed with inattentive ADHD as she tended to ‘space out’ periodically, as she had as a younger child. Emma was prescribed a several different prescriptions for ADHD, which did absolutely nothing for her.

Upon further evaluation by her school, a private behavioral pediatrician, and a private occupational therapist, Emma was diagnosed with non-verbal learning disorders (NLD). This seemed to be the answer, as Emma seemed to fit all of the characteristics of NLD children: difficulty with gross and fine motor skills, difficulty following multi-step directions, etc. One way that NLD is diagnosed is by using the difference between the verbal and performance IQ scores. A difference of 10-12 is typically considered significant; Emma had a difference of over 20. We truly thought we had finally found the answer. We bought books and searched websites to learn all we could about NLD. This diagnosis was made in summer/fall of 2003.

However……Emma seemed to be getting worse. She was getting assistance through the school with special education, speech therapy, and occupational therapy and also attended private occupational therapy on a regular basis. Emma struggled more in school and started having accidents (both #1 and #2) more often, even at school. We struggled to understand what was going on.

An EEG was done, thinking that Emma may be having minor seizures, causing her ‘spacey-ness’ and possibly some of her other problems. The EEG was negative. As we were coming upon the end of the year, an MRI was suggested since most insurance deductibles and such had been paid for the year. Emma had an MRI on 12/29/03 and Emma’s parents received her diagnosis of Metachromatic Leukodystrophy (MLD) on 12/30/03. Due to the outdated information on the Internet and other sources, Emma’s parents were instructed to spend some quality time with Emma as no one was sure how much time Emma truly had left.

Emma’s father Greg researched feverishly, trying to find out as much information as possible about MLD, as quickly as possible. He was able to reach the head of the University of Pittsburgh group, who gave him the cell phone number of a father who had three children, all with MLD. Their first child had a stem cell transplant at the University of Minnesota, while the other two younger children were currently in process of having stem cell transplants at Duke University Medical Center . After talking to this father and researching further, it was decided that Duke was the place to be.

Emma arrived at Duke University for her testing on January 19th, 2004. As you can imagine, it was a whirlwind between Emma’s diagnosis on December 30, 2003 and the time she arrived at Duke. Because time is of the essence for children in Emma’s situation, it was decided that she needed to be at Duke as soon as possible. The main doctor at Duke, Dr. Joanne Kurtzberg was extremely responsive to questions asked before Emma left, giving further assurance that the correct choice was made.

Emma’s stem cell transplant happened on February 19, 2004. Emma had chemotherapy for approximately two weeks before her transplant. The stem cell transplant is a non-invasive transplant that only takes approximately one-half hour. Emma has been a real trooper through the testing, then as an inpatient, through the transplant, and afterward. She was an inpatient for a few months after the transplant in the Durham, North Carolina . As her immune system was completely wiped out by the chemotherapy leaving her with no white blood cells, it was crucial that Emma be kept in a sterile environment. If she left her room to enter the general area of the 16-bed transplant wing, she had to wear a gown, gloves, and a mask.

After about six months post-transplant, Emma was allowed to come home to California. For the next several months, Emma was confined to her home which had to be sterilized. Emma was not allowed around anyone who was sick nor did she leave the house (for the most part). With her immune system still compromised, Emma began facing other transplant complications. During the several months Emma was confined to her home, she became unresponsive. Emma checked into UCSF with Duke providing direction to UCSF. Dr. K insisted that Emma needed her gallbladder out, despite other opinions. After having her gallbladder removed, Emma's surgeon said that Emma's gallbladder was indeed diseased.

For the next year, leading up to her 18-month check up, Emma began to slowly regain capabilities and began verbally communicating. At her 18 month check up, Emma’s MRI showed some improvement and all of her other tests were stable; no further MLD progression. Emma recently had her two-year check up and she appears to continue to be stable. Emma returns to Duke for her three-year testing in Feb '07.

Emma recently returned to school, is walking again, and has regained some of what made her “Emma”. Emma's family couldn’t be happier. The transplant gave Emma the necessary cells, via her new blood factory, that are producing the healthy enzyme that was missing. It is theorized that cord blood stem cells are more immature and were better able to protect Emma. Recently, there has been promising news with additional stem cell research that offers hope to repair Emma’s damage from MLD.

However, Emma should not die from MLD at this point…


Emma's Story Emma is currently 10 ½ years old. She is one of the sweetest, most loving girls anyone has ever met. We would like to share how we got to where we are now – Emma has stabilized…. As a young child, Emma’s parents noticed that Emma would sometimes just be in her own world, “Emma’s world”, as they would often describe it. As Emma got older, different challenges seemed to appear. Emma started to struggle in school. She ended up repeating first grade and was more successful the second time around. Emma was initially diagnosed with inattentive ADHD as she tended to ‘space out’ periodically, as she had as a younger child. Emma was prescribed a several different prescriptions for ADHD, which did absolutely nothing for her. Upon further evaluation by her school, a private behavioral pediatrician, and a private occupational therapist, Emma was diagnosed with non-verbal learning disorders (NLD). This seemed to be the answer, as Emma seemed to fit all of the characteristics of NLD children: difficulty with gross and fine motor skills, difficulty following multi-step directions, etc. One way that NLD is diagnosed is by using the difference between the verbal and performance IQ scores. A difference of 10-12 is typically considered significant; Emma had a difference of over 20. We truly thought we had finally found the answer. We bought books and searched websites to learn all we could about NLD. This diagnosis was made in summer/fall of 2003. However……Emma seemed to be getting worse. She was getting assistance through the school with special education, speech therapy, and occupational therapy and also attended private occupational therapy on a regular basis. Emma struggled more in school and started having accidents (both #1 and #2) more often, even at school. We struggled to understand what was going on. An EEG was done, thinking that Emma may be having minor seizures, causing her ‘spacey-ness’ and possibly some of her other problems. The EEG was negative. As we were coming upon the end of the year, an MRI was suggested since most insurance deductibles and such had been paid for the year. Emma had an MRI on 12/29/03 and Emma’s parents received her diagnosis of Metachromatic Leukodystrophy (MLD) on 12/30/03. Due to the outdated information on the Internet and other sources, Emma’s parents were instructed to spend some quality time with Emma as no one was sure how much time Emma truly had left. Emma’s father Greg researched feverishly, trying to find out as much information as possible about MLD, as quickly as possible. He was able to reach the head of the University of Pittsburgh group, who gave him the cell phone number of a father who had three children, all with MLD. Their first child had a stem cell transplant at the University of Minnesota, while the other two younger children were currently in process of having stem cell transplants at Duke University Medical Center . After talking to this father and researching further, it was decided that Duke was the place to be. Emma arrived at Duke University for her testing on January 19th, 2004. As you can imagine, it was a whirlwind between Emma’s diagnosis on December 30, 2003 and the time she arrived at Duke. Because time is of the essence for children in Emma’s situation, it was decided that she needed to be at Duke as soon as possible. The main doctor at Duke, Dr. Joanne Kurtzberg was extremely responsive to questions asked before Emma left, giving further assurance that the correct choice was made. Emma’s stem cell transplant happened on February 19, 2004. Emma had chemotherapy for approximately two weeks before her transplant. The stem cell transplant is a non-invasive transplant that only takes approximately one-half hour. Emma has been a real trooper through the testing, then as an inpatient, through the transplant, and afterward. She was an inpatient for a few months after the transplant in the Durham, North Carolina . As her immune system was completely wiped out by the chemotherapy leaving her with no white blood cells, it was crucial that Emma be kept in a sterile environment. If she left her room to enter the general area of the 16-bed transplant wing, she had to wear a gown, gloves, and a mask. After about six months post-transplant, Emma was allowed to come home to California. For the next several months, Emma was confined to her home which had to be sterilized. Emma was not allowed around anyone who was sick nor did she leave the house (for the most part). With her immune system still compromised, Emma began facing other transplant complications. During the several months Emma was confined to her home, she became unresponsive. Emma checked into UCSF with Duke providing direction to UCSF. Dr. K insisted that Emma needed her gallbladder out, despite other opinions. After having her gallbladder removed, Emma's surgeon said that Emma's gallbladder was indeed diseased. For the next year, leading up to her 18-month check up, Emma began to slowly regain capabilities and began verbally communicating. At her 18 month check up, Emma’s MRI showed some improvement and all of her other tests were stable; no further MLD progression. Emma recently had her two-year check up and she appears to continue to be stable. Emma returns to Duke for her three-year testing in Feb '07. Emma recently returned to school, is walking again, and has regained some of what made her “Emma”. Emma's family couldn’t be happier. The transplant gave Emma the necessary cells, via her new blood factory, that are producing the healthy enzyme that was missing. It is theorized that cord blood stem cells are more immature and were better able to protect Emma. Recently, there has been promising news with additional stem cell research that offers hope to repair Emma’s damage from MLD. However, Emma should not die from MLD at this point…
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