DESCRIPTION
Children with KD develop normally in their first months of life. During these first months, they meet developmental milestones including smiling, holding their heads up, and cooing.
However, children with infantile KD will eventually start to lose their milestones. For example, a baby who once smiled may stop smiling. As more nerve cells become injured, children have difficulty with more activities, including:
- Eating
- Seeing
- Moving
- Breathing
KD can present in infancy, childhood, adolescence, or adulthood. In infantile KD, symptoms begin when the child is younger than one year of age. This form of KD is the most common and most severe. Symptoms may quickly worsen without treatment. Children with infantile KD typically pass away by age 2 or 3 years of age.
In KD that appears after one year of age, children usually live longer, and the disease is slower to progress.
LABORATORY INVESTIGATIONS
Diagnosis
Some states test for KD as a part of newborn screening. A doctor may also suspect a child has Krabbe disease if the child has typical symptoms of the disease, including fussiness, loss of developmental milestones, and muscle weakness or stiffness.
However, KD is diagnosed with the use of multiple tests. These include:
Blood testing
Nerve conduction studies
Brain imaging
Pictures of the brain taken with magnetic resonance image (MRI) or a computerized tomography scan (CT scan). An MRI of the brain may be the first test to show signs of KD. An MRI scan of the brain is the far superior test for checking the white matter, as it is much more sensitive in detecting changes.
Lumbar punctures
TREATMENT AND THERAPIES
Stem-Cell Transplantation
Currently, there is no cure for Krabbe disease. Children diagnosed before they have significant symptoms may be eligible for a stem-cell transplant, which can help slow the progression of the disease. For early infantile KD patients, a stem-cell transplant is most helpful when done within the first 30 days of life. Unfortunately, a transplant cannot repair damage already done by the disease.
Gene Therapy
Research on gene therapy for KD is ongoing. Gene therapy for KD would replace abnormal GALC gene copies for normal copies. This type of treatment is not available yet.
Treatment of Symptoms
There are treatments available to help with a child’s irritability, muscle stiffness, pain, seizures, and difficulty eating. These treatments include:
- Medications for irritability and pain, such as gabapentin
- Medications to help muscles relax, such as baclofen
- Physical therapy to help with movement and flexibility
- Antiseizure medications
- Feeding tubes to help with eating and drinking
Resources
United Leukodystrophy Foundation
The United Leukodystrophy Foundation (ULF) is a volunteer-based health organization dedicated to providing patients and their families with information about Krabbe disease and other leukodystrophies. The ULF provides assistance in identifying sources of medical care, social services, and genetic counseling. In addition, the ULF works to establish a communication network among families; as well as increases public awareness and acts as an information source for health care providers by promoting and supporting research into causes, treatments, and prevention of the leukodystrophies.
KrabbeConnect
KrabbeConnect’s mission is to be the source of comprehensive information and access to resources for patients with Krabbe disease. The foundation bridges the gap between science and patient knowledge by maintaining a long-term engagement study on patients with Krabbe disease. KrabbeConnect also has a robust patient assistance program that includes a Treatment and Resource Maps page. For educational webinars on important topics to help families feel well informed about Krabbe disease, visit the Listen and Learn webinar page.
Hunter’s Hope
Hunter’s Hope Foundation was established to address the acute need for information and research with respect to Krabbe disease and other related leukodystrophies.
The mission is four-fold:
- To broaden public awareness of Krabbe disease and other leukodystrophies thus increasing the probability of early detection and treatment.
- To gather and provide current, functional information and service linkages to families of children with leukodystrophies.
- To fund research efforts that will identify new treatments, therapies and ultimately, a cure for Krabbe disease and other leukodystrophies.
- To establish an alliance of hope that will nourish, affirm and confront the urgent need for medical, financial and emotional support of family members and those afflicted with leukodystrophies.
Child Neurology Foundation (CNF) solicits resources from the community to be included on this webpage through an application process. CNF reserves the right to remove entities at any time if information is deemed inappropriate or inconsistent with the mission, vision, and values of CNF.