Texas
A Fact Sheet about NBS for the state you’ve chosen is coming soon.
Oklahoma
A Fact Sheet about NBS for the state you’ve chosen is coming soon.
Maryland
Newborn Screening for Krabbe Disease in Maryland
In 2020, there were
live births in Maryland2
There are
conditions on the Maryland Newborn Screening Panel3
All babies in the United States are screened for several conditions shortly after birth. Approximately 24-48 hours after a baby is born in the United States, the heel is pricked by a nurse to collect a small blood sample. Afterward, the nurse puts a series of blood drops onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. Maryland is not screening for Krabbe Disease.
What is Krabbe Disease?
Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Infantile Krabbe disease is the most common and severe form causing infants to lose the ability to eat, extreme irritability, inability to sit up, grasp objects, blindness, and seizures. Sadly, infants die within the first 2-3 years of life in states that do not test for Krabbe disease. We invite you to learn more about Understanding Krabbe Disease.
Why Screen for Krabbe Disease?
Krabbe disease is a severe neurodegenerative and rapidly progressing condition requiring immediate treatment for the most severe forms. The medical issues and symptoms of Krabbe disease are very significant and life-impacting. A delayed diagnosis, especially in the most severe forms, equates to palliative and supportive care as the only means of treatment until premature death.
Krabbe Disease Hero: Lily Smith
Lily Smith was born in 2011 to parents Kathleen and Ben and completed their family. When she was about 5 ½ months old, Kathleen noticed that Lily was no longer holding her head up or reaching for her toys. She sought advice from the pediatrician, who noted that Lily had regressed in some other milestones as well. When the pitch of Lily’s cry changed, Kathleen was advised to take her to the Emergency Room at Children’s National Medical Center for testing. When they were brought back to talk to the doctors, Kathleen showed them videos of what Lily had been able to do only a week before and they immediately ordered a CT scan. The CT scan showed white matter on the brain and the doctor advised them to admit Lily for an MRI the following morning. The results of the MRI confirmed that Lily had Krabbe Disease; the doctor explained that she would most likely not live until her second birthday and encouraged them to contact hospice and take lots of pictures.
Kathleen and Ben did not want to think about losing their child but figured at this point that they should learn as much as they could from Lily and her Krabbe journey. They found Dr. Escolar in Pittsburgh and learned that she was conducting research on Krabbe Disease. Dr. Escolar wanted to see them quickly so they drove to Pittsburgh. Lily went through a great deal of testing and evaluation over the course of several days; they were informed that Lily was eligible to receive a stem cell transplant, which would help preserve her sight and hearing as well as slow the progression of the disease drastically.
The decision needed to be made quickly, and they decided that treatment was the best decision for their family. Kathleen left her two older children at home and spent one hundred days with Lily in Pittsburgh. The transplant was not easy and Lily had many complications along the way, including many days on a ventilator in the ICU, and having a VP shunt placed for hydrocephalus.
Despite the challenge of the journey, Lily just celebrated her 11th birthday in September and is an amazing young lady. She uses her communication device to express her wants and needs and loves traveling, camping, reading, crafts, watching television shows, and playing games. She amazes and inspires her family daily with her strength and her big smile.
See all our Krabbe Disease Heroes.
Resources
- The Leukodystrophy Newborn Screening Action Network is dedicated to advancing newborn screening for leukodystrophies and lysosomal storage disorders, supporting newly-diagnosed families, and ensuring collaboration between all stakeholders. Learn more at https://ldnbs.org/.
- CDC offers funding and assistance through the Newborn Screening Quality Assurance Program (NSQAP). More information can be found at https://www.cdc.gov/labstandards/nsqap.html.
- Baby’s First Test provides funding opportunities through grants. Learn more at https://www.babysfirsttest.org/newborn-screening/funding-opportunities.
- American Public Health Laboratories NewSTEPS program provides data, technical assistance, and training. Details at https://www.newsteps.org/.
- KrabbeConnect offers patient support services to help families navigate the burden of Krabbe disease. Learn more at https://krabbeconnect.org/.
- Hunter's Hope Foundation is a non-profit organization committed to giving hope through education, awareness, research, and family care for all leukodystrophies. Learn more at https://www.huntershope.org/.
Citations
- Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- “Fertility Rate: Maryland, 2010-2020.” March of Dimes | PeriStats, https://www.marchofdimes.org/peristats/data?reg=99&top=2&stop=1&lev=1&slev=4&obj=1&sreg=34. Accessed 13 August 2023.
- “Maryland| Baby’s First Test | Newborn Screening | Baby Health.” Babysfirsttest.org, 2015, https://www.babysfirsttest.org/newborn-screening/states/Maryland. Accessed 13 August 2023.
All information in this fact sheet is based on data available before August 13, 2023.
Leukodystrophy and Newborn Screening Awareness Sponsors
California
A Fact Sheet about NBS for the state you’ve chosen is coming soon.
Arkansas
Newborn Screening for Krabbe Disease in Arkansas
In 2020, there were
live births in Arkansas2
There are
conditions on the Arkansas Newborn Screening Panel3
All babies born in the United States are screened for several conditions shortly after birth. Approximately 24-48 hours after a baby is born in the United States, a nurse pricks the heel to collect a small blood sample. Afterward, the nurse puts a series of blood drops onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. Unfortunately, Arkansas is NOT 1 of the 11 states currently testing for Krabbe disease.
What is Krabbe Disease?
Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Infantile Krabbe disease is the most common and severe form causing infants to lose the ability to eat, extreme irritability, inability to sit up, grasp objects, blindness, and seizures. Sadly, infants die within the first 2-3 years of life in states that do not test for Krabbe disease. We invite you to learn more about Understanding Krabbe Disease.
Why Screen for Krabbe Disease?
Krabbe disease is a severe neurodegenerative and rapidly progressing condition requiring immediate treatment for the most severe forms. The medical issues and symptoms of Krabbe disease are very significant and life-impacting. A delayed diagnosis, especially in the most severe forms, equates to palliative and supportive care as the only means of treatment until premature death.
Krabbe Disease Hero: Lucille
Tenessa and Stephen Jr. welcomed their daughter, Lucille, into their lives in October 2017. She was happy and healthy, smiled frequently, and everything seemed to be normal. A few months later they began to notice that Lucille could not hold her head up and wasn’t interested in eating. They took her to the emergency room and were told she had a virus. After a couple of days, Tenessa and Stephen took Lucille back to the hospital and pressed for admission to the Children’s hospital. Tenessa’s mother urged them to have Lucille admitted to the hospital because she recognized the signs of Krabbe disease before the doctors did, out of her own experience with losing a daughter to the disease.
Once Lucille was admitted, the doctors ordered tests and bloodwork and initially believed that she had colic and a milk allergy. By this time, Lucille had stopped eating, smiling, moving her hands and legs, and her muscles were tense, and her parents knew it was serious. When the geneticist met with them to deliver the results, he confirmed that the true diagnosis was indeed Krabbe disease. Tenessa remembers being scared and devastated by the news that their four-month-old daughter was dying. A few weeks later Lucille would be readmitted for a g-tube and was then set up with hospice care because there was nothing that could be done. Lucille passed away in March 2019 and left her parents with only photographs and memories.
Tenessa and Stephen advocate for Newborn Screening for Krabbe disease because it would have given them more time with Lucille and given them options for treatment. They want to help other parents avoid the journey they faced, and Newborn Screening can make that possible.
See all our Krabbe Disease Heroes.
Resources
- The Leukodystrophy Newborn Screening Action Network is dedicated to advancing newborn screening for leukodystrophies and lysosomal storage disorders, supporting newly-diagnosed families, and ensuring collaboration between all stakeholders. Learn more at https://ldnbs.org/.
- CDC offers funding and assistance through the Newborn Screening Quality Assurance Program (NSQAP). More information can be found at https://www.cdc.gov/labstandards/nsqap.html.
- Baby’s First Test provides funding opportunities through grants. Learn more at https://www.babysfirsttest.org/newborn-screening/funding-opportunities.
- American Public Health Laboratories NewSTEPS program provides data, technical assistance, and training. Details at https://www.newsteps.org/.
- KrabbeConnect offers patient support services to help families navigate the burden of Krabbe disease. Learn more at https://krabbeconnect.org/.
- Hunter's Hope Foundation is a non-profit organization committed to giving hope through education, awareness, research, and family care for all leukodystrophies. Learn more at https://www.huntershope.org/.
Citations
- Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- “Fertility Rate: Arkansas, 2010-2020.” March of Dimes | PeriStats, https://www.marchofdimes.org/peristats/data?reg=42&top=2&stop=10&slev=4&obj=3&sreg=05&creg. Accessed 31 July 2023.
- “Arkansas| Baby’s First Test | Newborn Screening | Baby Health.” Babysfirsttest.org, 2015, https://www.babysfirsttest.org/newborn-screening/states/arkansas. Accessed 31 July 2023.
All information in this fact sheet is based on data available before July 31, 2023.
Leukodystrophy and Newborn Screening Awareness Sponsors
Arizona
Newborn Screening for Krabbe Disease in Arizona
In 2020, there were
live births in Arizona2
There are
conditions on the Arizona Newborn Screening Panel3
All babies in the United States are screened for several conditions shortly after birth. Approximately 24-48 hours after a baby is born in the United States, the heel is pricked by a nurse to collect a small sample of blood. Afterwards, the nurse puts a series of blood drops onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. House Bill 2388 was introduced in 2014 by way of
grassroots efforts from two families impacted by Krabbe disease, the Stuzman and Gerlitz families. This bill would implement legislation requiring Arizona to add Krabbe disease to the their newborn screening panel. The bill did not pass.
What is Krabbe Disease?
Krabbe disease (pronounced krab A) is a rare genetic disorder known as globoid cell leukodystrophy. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Infantile Krabbe disease is the most common and severe form causing infants to lose the ability to eat, extreme irritability, inability to sit up, and grasp objects, blindness, and seizures. Sadly, infants die within the first 2-3 years of life in states that do not test for Krabbe disease. We invite you to learn more about Understanding Krabbe Disease.
Why Screen for Krabbe Disease?
Krabbe disease is a severe neurodegenerative and rapidly progressing condition requiring immediate treatment for the most severe forms. Max was diagnosed with an early onset form of Krabbe disease at 6 months of age. This form, known as infantile Krabbe disease requires treatment within the first 30-45 days of life. If Max was identified at birth with Krabbe disease, Max could have undergone a stem cell transplant. Due to his delayed diagnosis palliative and supportive care were he's only means of treatment.
Krabbe Disease Hero: Max Barnett
Max was born on February 6, 2014, to parents Allison and Josiah. He was healthy and such a happy baby, always smiling. At his six-month well-check appointment the doctor noted that he was a little delayed with some milestones. Around eight months of age, they began to notice that Max was struggling to sit up straight, he was a little fussier, he stopped grabbing for things, and he wasn't rolling. At his nine-month well-check, the pediatrician told them to take him to the emergency room because his breathing had become a little more shallow and something was off. An MRI was performed and they were sent home with no real answers other than he had some vanishing white matter. The pediatrician arranged for Allison and Josiah to meet with a genetics doctor the following week where they did blood work to test for some rare disorders. At the next appointment, the geneticist walked in with two neurologists, and with the worst possible news - Max had a leukodystrophy called Krabbe Disease. The doctors told Allison and Josiah to take Max home and make him comfortable.
Max quickly lost his eyesight but he loved superheroes, music, and his older sister, Emma. He would always look in her direction when she was around. Allison and Josiah created a bucket list for Max and experienced many great things with him.
Newborn Screening would have given the Barnetts an opportunity to have Max treated and to have given him a chance at life.
See all our Krabbe Disease Heroes.
Resources
- The Leukodystrophy Newborn Screening Action Network is dedicated to advancing newborn screening for leukodystrophies and lysosomal storage disorders, supporting newly-diagnosed families, and ensuring collaboration between all stakeholders. Learn more at https://ldnbs.org/.
- CDC offers funding and assistance through the Newborn Screening Quality Assurance Program (NSQAP). More information can be found at https://www.cdc.gov/labstandards/nsqap.html.
- Baby’s First Test provides funding opportunities through grants. Learn more at https://www.babysfirsttest.org/newborn-screening/funding-opportunities.
- American Public Health Laboratories NewSTEPS program provides data, technical assistance, and training. Details at https://www.newsteps.org/.
- KrabbeConnect offers patient support services to help families navigate the burden of Krabbe disease. Learn more at https://krabbeconnect.org/.
- Hunter's Hope Foundation is a non-profit organization committed to giving hope through education, awareness, research, and family care for all leukodystrophies. Learn more at https://www.huntershope.org/.
Citations
- Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- “Fertility Rate: Arizona, 2010-2020.” March of Dimes | PeriStats, https://www.marchofdimes.org/peristats/data?reg=99&top=2&stop=1&lev=1&slev=4&obj=1&sreg=04&creg. Accessed 22 Sep. 2022.
- “Arizona | Baby’s First Test | Newborn Screening | Baby Health.” Babysfirsttest.org, 2015, https://www.babysfirsttest.org/newborn-screening/states/arizona. Accessed 22 Sept. 2022.
All information in this fact sheet is based on data available before September 9, 2022.
Leukodystrophy and Newborn Screening Awareness Sponsors
Rhode Island
A Fact Sheet about NBS for the state you’ve chosen is coming soon.
Florida
Newborn Screening for Krabbe Disease in Florida
In 2020, there were
live births in Florida2
There are
conditions on the Florida Newborn Screening Panel3
All babies in the United States are screened for several conditions shortly after birth. Approximately 24-48 hours after a baby is born in the United States, the heel is pricked by a nurse to collect a small sample of blood. Afterward, the nurse puts a series of blood drops onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. Florida is a RUSP state. This means conditions approved for the Recommended Uniform Screening Panel by a federal child health and welfare committee called the ACHDNC are added to Florida's state newborn screening panel. No grassroots efforts are currently in motion for Krabbe disease NBS in Florida.
What is Krabbe Disease?
Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Infantile Krabbe disease is the most common and severe form causing infants to lose the ability to eat, extreme irritability, inability to sit up, grasp objects, blindness, and seizures. Sadly, infants die within the first 2-3 years of life in states that do not test for Krabbe disease. We invite you to learn more at Understanding Krabbe Disease.
Why Screen for Krabbe Disease?
Krabbe disease is a severe neurodegenerative and rapidly progressing condition requiring immediate treatment for the most severe forms. Mila was diagnosed with an early onset form of Krabbe disease at 11 months of age. This form, known as infantile Krabbe disease, requires treatment within the first 30-45 days of life. If Mila was identified at birth with Krabbe disease, Mila could have undergone a stem cell transplant. Due to his delayed diagnosis palliative and supportive care were her only means of treatment.
Krabbe Disease Hero: Mila Lebow
Mila was born in September 2017 to parents Rachel and Wes in Virginia; however, she now resides in the Sunshine State known as Florida. After a few months, they began to suspect that Mila might have some developmental delays and began to pursue answers. The answers that came were completely unexpected: eleven-month-old Mila had Krabbe Disease. The news was delivered in person by a pediatric neurologist and a neurology nurse practitioner who tried to answer their many questions as Rachel and Wes struggled to accept this new reality with tears running down their faces. The Lebows had never heard of Krabbe disease or Leukodystrophy until that very moment, and they knew that their life had just changed forever.
Today, Mila loves to be in the water to swim or bathe. She loves to be held, read and sung to, and do activities with her brother and other children. Mila is a typical five-year-old girl with a love for princesses, Minnie Mouse, Daisy Duck, the colors pink and purple, Disney songs, and Bluey. She strongly dislikes slimy feeling things
and finger paint on her hands.
The Lebows are strongly in favor of Krabbe disease newborn screening nationwide. If Mila was born in one of the 10 states currently testing for Krabbe disease, her life would look so much different.
See all our Krabbe Disease Heroes.
Resources
- The Leukodystrophy Newborn Screening Action Network is dedicated to advancing newborn screening for leukodystrophies and lysosomal storage disorders, supporting newly-diagnosed families, and ensuring collaboration between all stakeholders. Learn more at https://ldnbs.org/.
- CDC offers funding and assistance through the Newborn Screening Quality Assurance Program (NSQAP). More information can be found at https://www.cdc.gov/labstandards/nsqap.html.
- Baby’s First Test provides funding opportunities through grants. Learn more at https://www.babysfirsttest.org/newborn-screening/funding-opportunities.
- American Public Health Laboratories NewSTEPS program provides data, technical assistance, and training. Details at https://www.newsteps.org/.
- KrabbeConnect offers patient support services to help families navigate the burden of Krabbe disease. Learn more at https://krabbeconnect.org/.
- Hunter's Hope Foundation is a non-profit organization committed to giving hope through education, awareness, research, and family care for all leukodystrophies. Learn more at https://www.huntershope.org/.
Citations
- Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- “Fertility Rate: Florida, 2010-2020.” March of Dimes | PeriStats, https://www.marchofdimes.org/peristats/data?reg=99&top=2&stop=1&lev=1&slev=4&obj=1&sreg=12. Accessed 22 Sep. 2022.
- “Florida | Baby’s First Test | Newborn Screening | Baby Health.” Babysfirsttest.org, 2015, https://www.babysfirsttest.org/newborn-screening/states/florida. Accessed 22 Sept. 2022.
All information in this fact sheet is based on data available before September 22, 2022.
Leukodystrophy and Newborn Screening Awareness Sponsors
Louisiana
Newborn Screening for Krabbe Disease in Louisiana
In 2020, there were
live births in Louisiana2
There are
conditions on the Louisiana Newborn Screening Panel3
All babies in the United States are screened for several conditions shortly after birth. Approximately 24-48 hours after a baby is born in the United States, the heel is pricked by a nurse to collect a small blood sample. Afterward, the nurse puts a series of blood drops onto a filter paper to create several “dried blood spots.” Next, the newborn screening card is sent to the state laboratory for analysis. Despite having a law in place since 2016, thanks to the Bazar family, Louisiana is not screening for Krabbe Disease.
What is Krabbe Disease?
Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. In the United States, Krabbe disease has been reported to affect approximately 1 in 100,000 individuals. Infantile Krabbe disease is the most common and severe form causing infants to lose the ability to eat, extreme irritability, inability to sit up, grasp objects, blindness, and seizures. Sadly, infants die within the first 2-3 years of life in states that do not test for Krabbe disease. We invite you to learn more about Understanding Krabbe Disease.
Why Screen for Krabbe Disease?
Krabbe disease is a severe neurodegenerative and rapidly progressing condition requiring immediate treatment for the most severe forms. The medical issues and symptoms of Krabbe disease are very significant and life-impacting. A delayed diagnosis, especially in the most severe forms, equates to palliative and supportive care as the only means of treatment until premature death.
Krabbe Disease Hero: Anniston Bazar
Corey and Reesa were thrilled to welcome their daughter, Annison, into their family as their third child. When she was around four months old, Anniston began crying for hours each day and was inconsolable most of the time. Corey and Reesa informed the pediatrician about their concerns and he initially thought it was reflux, a common condition for babies. She was given medication and after two weeks of no improvement, the pediatrician ordered blood work and a CT scan. Both of those tests came back normal, but Corey and Reesa’s intuition encouraged them to press for additional tests. They were admitted to the nearest children’s hospital, which was three hours away; Anniston was inpatient for twenty-seven days and underwent numerous blood draws, swallow studies, MRIs, and more.
It was during this hospital stay that Annison lost her ability to smile, breastfeed, and move her legs; and it was because of this hospital stay that Corey and Reesa received their hard sought-after answers: Anniston had Krabbe Disease. At first, all they could do was cry. The doctor kindly gave them about twenty minutes to process everything before asking if they had any questions, which they did; yet, the doctors there could not answer most of them. In fact, the doctors were not even aware of the Krabbe specialists in the U.S. Thankfully, Corey was able to find the specialists through research and a Facebook group for Krabbe families, and the Bazars were able to ensure that Anniston received proper care.
Anniston loved being outside. She had a special adaptive stroller that her parents would use for running and bike riding, and she also loved swimming in the pool and hot tub. As a family, the Bazars did everything they could to help Anniston experience life and one of their absolute favorite things to do was travel. They took her to nineteen different states, and some of her favorite places were Disney World, Washington D.C., and Pigeon Forge, TN. Anniston loved learning, music, and books. She also absolutely adored her two older brothers, who were such wonderful caregivers.
Anniston passed away on April 5, 2020; she was three weeks shy of her sixth birthday. Corey and Reesa believe that Anniston would still be alive today if she had been screened for Krabbe Disease at birth because she would have had the opportunity to receive a stem-cell transplant.
See all our Krabbe Disease Heroes.
Resources
- The Leukodystrophy Newborn Screening Action Network is dedicated to advancing newborn screening for leukodystrophies and lysosomal storage disorders, supporting newly-diagnosed families, and ensuring collaboration between all stakeholders. Learn more at https://ldnbs.org/.
- CDC offers funding and assistance through the Newborn Screening Quality Assurance Program (NSQAP). More information can be found at https://www.cdc.gov/labstandards/nsqap.html.
- Baby’s First Test provides funding opportunities through grants. Learn more at https://www.babysfirsttest.org/newborn-screening/funding-opportunities.
- American Public Health Laboratories NewSTEPS program provides data, technical assistance, and training. Details at https://www.newsteps.org/.
- KrabbeConnect offers patient support services to help families navigate the burden of Krabbe disease. Learn more at https://krabbeconnect.org/.
- Hunter's Hope Foundation is a non-profit organization committed to giving hope through education, awareness, research, and family care for all leukodystrophies. Learn more at https://www.huntershope.org/.
Citations
- Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
- “Fertility Rate: Louisiana, 2010-2020.” March of Dimes | PeriStats, https://www.marchofdimes.org/peristats/data?reg=99&top=2&stop=1&lev=1&slev=4&obj=1&sreg=34. Accessed 13 August 2023.
- “Louisiana| Baby’s First Test | Newborn Screening | Baby Health.” Babysfirsttest.org, 2015, https://www.babysfirsttest.org/newborn-screening/states/louisiana. Accessed 13 August 2023.
All information in this fact sheet is based on data available before August 13, 2023.
Leukodystrophy and Newborn Screening Awareness Sponsors