Hunter’s Hope was founded in 1997 when Hunter Kelly (2/14/97 – 8/5/05) was diagnosed with a Leukodystrophy known as Krabbe Disease.
Krabbe Disease is one of more than 50 known Leukodystrophies, which are genetic, progressive disorders that affect the myelin in the brain (also known as white matter).
Alone, each Leukodystrophy may be considered rare, but as a group, these diseases affect approximately 1 in 4700 individuals.
What is a Leukodystrophy?
Leukodystrophies are a group of disorders that cause deterioration of the white matter, or myelin, in the brain. The term Leukodystrophy is derived from the prefix leuko, meaning white, and the word dystrophy, meaning imperfect growth. Therefore, Leukodystrophies are characterized by imperfect growth of the white matter in the brain.
White matter, also known as myelin, makes up the insulating sheath surrounding the nervous system. This protective covering acts much like the coating around electrical wire in that it is responsible for the rapid transmission of signals to and from the brain to neurons throughout the body.
Without white matter (myelin), communication between the brain and nervous system becomes disrupted or nonexistent, thus resulting in a Leukodystrophy.
How many Leukodystrophies are there?
Currently, there are more than 50 identified Leukodystrophies, although nearly half of patients with Leukodystrophy still remain unclassified. This list has grown significantly in the last ten years. As research advances, scientists will continue to discover and classify new variations in this family of diseases.
How do you get a Leukodystrophy?
Most Leukodystrophies are genetic, meaning they are passed from the parents to their children. Depending on the Leukodystrophy, the manner in which a mutated gene is inherited will differ.
Although rare, recent research has also indicated that some Leukodystrophies develop sporadically, meaning it is not genetic and that neither parent is a carrier of a mutated gene.
How are Leukodystrophies diagnosed?
Oftentimes, MRIs are used to produce detailed images of the brain to help in the initial diagnosis of a Leukodystrophy. Depending on the Leukodystrophy, additional diagnostic measures may include blood, urine, hearing, and nerve conduction tests or CT scans.
Newborn screening can also be used to help detect a limited number of Leukodystrophies. Currently, newborn screening exists only for Krabbe Disease and Adrenoleukodystrophy (ALD). However, this group is anticipated to grow as research continues to advance. Unfortunately, not all states include Krabbe and ALD in their newborn screening panels.
Is there treatment for Leukodystrophies?
Depending on the type of Leukodystrophy and level of progression at the time of diagnosis, some treatments may be available such as cord blood or bone marrow transplantation and gene therapy to halt the progression of the disease. In most cases, however, treatment must be administered before the disease is too far progressed.
Research studies exploring the effectiveness of enzyme replacement and gene therapy are also underway for some Leukodystrophies.
Though there is no cure for Leukodystrophies, they are treatable.
An affected individual who does not qualify for the aforementioned transplants or therapies can still receive excellence in care tailored to the ever-changing needs of the child. Comfort level and quality of life can be greatly improved with an integrated approach to care.
Through the Leukodystrophy Care Network, a team of doctors is comprised to provide various aspects of care specific to the child. Although this does not stop the progression of the disease, taking action in this proactive manner is extremely beneficial in management of symptoms.
For more information on quality care, visit our Leukodystrophy Care Network page.
What are the symptoms of Leukodystrophies?
Most commonly, Leukodystrophies are defined by a gradual decline in development caused by damage to the myelin (or white matter) of the brain. Without healthy myelin, signals to and from the brain cannot travel adequately, or at all.
An infant or child who was previously exhibiting normal development may experience progressive loss in gait, body tone, vision, hearing, swallowing, and feeding abilities.
What makes Leukodystrophies similar? What makes them different?
All Leukodystrophies are the result of an improper growth of myelin, also known as white matter. The myelin serves as an insulating sheath covering nerve cells to protect and secure signals traveling to and from the neurons and the brain. Thousands of chemicals make up and affect the protective myelin sheath in some way.
Leukodystrophies are caused by a deficiency in one of these chemical substances, resulting in deterioration to the myelin.
Many genes are involved in the process of making healthy myelin. A mutation, or defect, in any of the genes associated with this process may result in a Leukodystrophy. Symptoms vary depending on the type and stage of each specific disease.
Clinical Trials and New Treatments
Learn more about Clinical Trials and new therapies here.
Additional Resources for Families
Leukodystrophy Care Network
Hunter’s Hope Foundation – Family Care
Duke Children’s Hospital: Bone Marrow and Stem Cell Transplantation