The Reality of Treating Krabbe Disease in Newborn Infants
Hope is all any parent can ask for their infant with Krabbe disease. Of all newborn baby health problems, the only defense against it is hope and we intend to give it to you. We include optimistic sources to counter this overwhelming health problem your baby is experiencing.
We address the key questions surrounding Krabbe and neurodegeneration as you go through this struggle searching for a treatment to this rare childhood disease. The information in this article provides answers and resources to make life a little easier for you and your baby.
What is Krabbe Disease?
Krabbe is considered both a Leukodystrophy (affecting motor functions) and a disorder (affecting the nervous system). Krabbe’s neurological effects develop in newborn babies in early development. This early infantile sickness affects an estimated 1 out of every 100,000 births in the United States and 1 in every 170,000 births outside the US. Signs of this autosomal recessive disorder appear often before 6 months of age. In 2021, Krabbe’s neurodegeneration is considered fatal by age 2 by destroying an infant’s nerve cells in the brain and throughout the nervous system.
What Causes Krabbe In Newborn Babys?
Krabbe is an inherited genetic progressive disorder. This neurodegeneration is often referred to as a GalC deficiency. Mutations (globoid cell leukodystrophy) in the GalC gene (responsible for making the galactosylceramidase enzyme) result in the protective myelin enzyme breaking down. Without the nervous system’s myelin cover, the body sustains fatal damage. As this is an autosomal recessive disorder, if both parents carry this recessive disease, their child has a 1 in 4 chance of being born with this heartbreaking newborn baby health problem.
Symptoms of Krabbe
Symptoms develop at a rapid pace in a newborn infant’s first six months. There are mental and physical delays in development, muscle weakness, fever, and hyperirritability. The two most obvious symptoms in babies are regression of previously acquired motor functions i.e. difficulty walking, manual dexterity and swallowing followed by vision loss.
Other symptoms include but are not limited to, hearing loss, vomiting, spastic contractions in the lower extremities, and difficulty breathing. Prior to hearing loss, affected infants are hypersensitive to sound.
Diagnosing Krabbe in Infants
A series of tests are conducted to diagnose Krabbe.
- Genetic test for mutation analysis
- A blood test to determine GalC enzyme activity
- MRI, CT study of nerve conduction
Forms & Variations
Krabbe is a type of Leukodystrophy in two forms.
- Early Onset, "Early Infantile"
- Later Onset, "Late Infantile"
As many as 150 other mutations occur in the GalC gene. Not all lead to disease in newborn babies.
Baby Clinic Studies
Clinical trial information can be searched at Clinicaltrials.gov
Downloadable clinical outcomes of infants & young children transplanted for Krabbe Disease.
Treating Krabbe Disease
Krabbe disease has no cure, but there are treatments. GalC deficiency is treatable. Transplantation of Myelin-forming cells (Hematopoietic Stem Cell Transplant) has been pioneered by Dr. Maria Escolar in an effort to stabilize symptoms. Benefits are short term with best results in babies who are asymptomatic or mildly symptomatic. HSCT has not proven to correct the GalC deficiency in the peripheral nervous system of infants with a mortality rate of 15%.
Companies Who Care
Forge science is in phase II trials, answering the call to this rare infant disease with FBX-101. It drastically improves life in correcting some symptoms associated with Krabbe. It combines gene therapy with transplanted umbilical cord blood.
Krabbe Disease Resources
FORGE BIOLOGICS
Forge leads the way to transformative genetic medicines as a leading innovator in treatment of Krabbe Disease in infants.
Podcasts
Krabbe Questions & Answers
There is general pain associated with muscle weakness.
Yes. Forge Biologics produces FBX-101. It is a combination adeno-associated viral (AAV) gene therapy and umbilical cord blood transplant.
Krabbe disease is named after Danish neurologist Knud Krabbe who described the condition in 1916.
General Children's Disease Resources
TGen
Headquartered in Phoenix AZ, Tgen provides assistance across a spectrum of diseases.
Genetic Testing Registry
Over 150 test facilities and labs.
NORD
National Organization for Rare Disorders. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services.
GARD
The Genetic and Rare Diseases Information Center provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases.
Angel Aid
Providing connection & relief.
Global Commission
Global Commission to End the Diagnostic Odyssey for Children with Rare Disease
Rare Disease Alliance
Helps members build their capacity to act locally, regionally, and globally
In Conclusion
As a parent, no one can tell you to give up hope. We hope these resources and the current options available lead you to true solace in your journey. May peace fill the days you have ahead with a better life than what those who have attempted to persuade you isn’t there.
References
- Escolar, M. L., M. D. Poe, J. M. Provenzale, K. C. Richards, J. Allison, S. Wood, D. A. Wenger, D. Pietryga, D. Wall, M. Champagne, R. Morse, W. Krivit, and J. Kurtzberg. 2005. ‘Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease’, N Engl J Med, 352: 2069-81.
