It's hard to put into words the sadness and anxiety a mother or father feels when their little one gets sick, isn't it? Especially when it's a rare and seemingly complicated condition, the burden is even greater. Today we're going to talk about one such rare but important condition. This is called Krabbe Disease. Some people also call it Globoid Cell Leukodystrophy. Although the name may seem a bit long, let's keep it simple.
What is Krabbe Disease?
Simply put, Krabbe disease is a rare genetic disorder that affects the nervous system. It's pronounced "kra-bah."
This disease belongs to a group of diseases called Leukodystrophies. In these diseases , the protective covering called Myelin in our nervous system is lost (this is called Demyelination). Think of the nerve cells in our body as electrical wires. There is a protective covering around these wires, like a plastic sheath on top of the wire. That is what is called Myelin. This myelin sheath is what allows nerve messages to travel quickly and accurately. In Krabbe disease, this myelin sheath is damaged.
Also, in this disease, an abnormal type of cell in the brain called globoid cells can be seen. These are large cells that usually have more than one nucleus.
As the myelin sheath is destroyed, brain cells begin to die. This gradually causes problems that impair the functioning of the nervous system. For example:
- Intellectual Disability
- Paralysis
- Hearing loss or deafness
Krabbe disease is a degenerative condition that gradually worsens over time. The sad thing is, it often ends in death.
The disease is named after Knud Krabbe, a Danish neurologist.
Who is most affected by Krabbe disease?
Approximately 90% of people with Krabbe disease begin to develop symptoms between the ages of 1 and 7 months. This is called the infantile form of Krabbe disease. Sometimes, the disease can begin after the age of 18 months, during adolescence or adulthood. This is called the late-onset form of Krabbe disease.
The most important thing is that Krabbe disease is a disease that is inherited from parents to children through genes.
How common is this disease?
Krabbe disease is generally a very rare disease. However, the frequency of its occurrence varies in different parts of the world. According to researchers, the disease can occur in about one in 100,000 live births in Europe and one in 250,000 live births in the United States.
However, the disease is more common in some isolated communities in Israel, with an incidence of about 6 per 1,000 people.
What are the symptoms of Krabbe disease?
The severity of Krabbe disease symptoms depends on the age at which symptoms begin. Infantile form of Krabbe disease worsens rapidly and is usually fatal before the age of 2 years. Late-onset form of Krabbe disease is relatively milder, and the life expectancy is longer.
Symptoms of Infantile Krabbe Disease
The symptoms of Krabbe disease in infancy can be identified in three main stages:
Stage 1:
A baby with Krabbe disease usually grows and develops well until they are 4 to 6 months old. That's when symptoms begin. These include:
- Frequent restlessness, irritability
- Vomiting
- Difficulty drinking milk
- Failure to Thrive
- Frequent fevers without any signs of infection
- Muscle weakness
A baby with Krabbe's disease may be hypersensitive to touch, sound, and light. When such a stimulus comes, the body may experience a stiffening sensation (Tonic Spasms). Imagine, a baby will startle and stiffen at the slightest sound.
Stage 2:
In the second stage, you may see symptoms like:
- Vision changes
- Optic Atrophy - This means the weakening of the optic nerve.
- Abnormal Posture - Tightness in the muscles of the neck, trunk, and legs can lead to a posture that bends backward from the neck to the heels (Opisthotonic Posturing). It is like bending backward like a bow.
- Seizure-like conditions
- Slowing of mental and physical development
- The inability to do things that were previously learned (e.g., smiling, holding your head high) again.
Stage 3:
In the third stage, these symptoms are seen:
- Complete loss of vision (blindness)
- Complete loss of hearing (deafness)
- An abnormal body posture - a posture in which the arms and legs are straight, the fingers are pointed downward, and the head and neck are pulled back (decerebrate posturing)
- Decreased ability to move around.
Reading these details may make you feel sad and scared. But knowing these things is very important for early diagnosis and getting the help you need.
Symptoms of Late-Onset Krabbe Disease
Late Infantile Krabbe Disease begins between the ages of 13 and 36 months. The symptoms gradually appear as follows:
- Irritability
- Vision changes
- Abnormal gait
- Seizures
- Apneic Episodes
- Body temperature instability
In this case, the average age of death is around six years.
Symptoms of Juvenile-Onset Krabbe Disease are:
- Vision changes
- Tremors
- Gait abnormalities
- Inability to control movements as desired and gradual muscle stiffness
- Attention-Deficit/Hyperactivity Disorder (ADHD)
The rate at which this type of Krabbe disease worsens varies, but death is usually caused within 10 years of diagnosis.
Symptoms of Late-Onset Krabbe Disease :
- Burning sensation in the hands and feet
- Changes in mood and behavior
- Staggering while walking, loss of balance `(Ataxia)`
- Muscle stiffness (Spasticity)
- Vision changes and blindness
- Convulsion
- Hearing impairment and deafness
Many people who develop Krabbe disease in adulthood become mentally and physically weak.
What causes Krabbe disease?
Krabbe disease is a disease that is passed down from parents to children through a gene. It is inherited in an autosomal recessive pattern. This means that both copies of the gene in each of the child's cells must have mutations. A person with this disease has one copy of the mutated gene in each of their parents. However, the parents usually do not show symptoms. They are only carriers of the disease.
Krabbe disease is caused by mutations in the gene `GALC`. This results in the body not producing an enzyme called `Galactocerebrosidase`. This enzyme is essential for our body to metabolize a compound called `Galactocerebroside`. This galactocerebroside is an important part of myelin (the protective covering around nerves).
When this important enzyme is lost, the myelin sheath throughout the central nervous system breaks down (demyelination). This is what causes the neurological symptoms of Krabbe disease.
How is Krabbe disease diagnosed?
In some states in the United States, a test for Krabbe disease is included in the routine newborn screening protocol. This is a blood test.
Another important way to diagnose Krabbe disease is through imaging tests. In particular, an MRI (Magnetic Resonance Imaging) scan can detect changes in a child's brain that indicate Krabbe disease. An MRI is very useful in detecting brain lesions in Krabbe disease. These tests can also help diagnose the disease in childhood and adulthood.
If your child is diagnosed with Krabbe disease, you will likely need a Hearing Assessment and an Eye Examination to determine the extent of their hearing and vision impairment. This will help determine what kind of hearing aids and vision aids your child may need.
If your child is diagnosed with Krabbe disease, your doctor will likely recommend that you and your partner undergo genetic counseling and testing to assess your risk of having another child. They may also recommend that other family members be tested to see if they are carriers of the abnormal gene.
What is the treatment for Krabbe disease?
Unfortunately, there is still no permanent cure for Krabbe's disease. And, it usually ends in death.
However, there is one treatment that can control the progression of Krabbe disease: a hematopoietic stem cell transplant (HSCT).
A stem cell transplant replaces unhealthy cells in the body with healthy cells. Hematopoietic stem cells are immature cells that can develop into all types of blood cells, including white blood cells, red blood cells, and platelets.
In HSCT, blood stem cells from a healthy donor are transplanted into a child with Krabbe disease. This helps to provide the child with healthy cells and good GALC enzyme function in the brain. However, HSCT is most effective when given before symptoms appear.
Researchers continue to try to find better treatments for Krabbe disease. Because there is currently no cure and the disease worsens over time, the main treatment is supportive care . This may include:
- Muscle relaxants for muscle tension
- Anticonvulsant Medications to Control Seizures
- Physical Therapy to Increase Mobility
- Occupational Therapy for Older Children and Adults
- If there is difficulty swallowing, tube feedings
What is the prognosis for Krabbe disease?
The prognosis for Krabbe disease is poor. It usually ends in death. However, survival time varies depending on the age at which symptoms begin.
The average life expectancy for children with Krabbe disease in infancy is about 13 months. Most children with late-onset disease die within two years of the onset of symptoms.
The rate of progression and lifespan of Krabbe disease, which begins in childhood and adulthood, vary.
Death from Krabbe disease usually occurs due to respiratory failure caused by muscle weakness or infection caused by food/liquids getting into the lungs (aspiration).
Can Krabbe disease be prevented?
Because Krabbe disease is an inherited disease, there is nothing we can do to prevent it.
However, if you are concerned about the risk of inheriting Krabbe disease or other genetic disorders before you try to have a child, talk to a healthcare provider about genetic counseling.
When should my child with Krabbe disease see a doctor?
Your child will need to see their healthcare team regularly to monitor their symptoms, monitor their progress, and adjust their supportive care plan as needed. If your child develops any new symptoms, let your doctor know right away.
Krabbe disease is a rare, inherited neurological disorder. It can be a shock and a burden to learn that your child has Krabbe disease. But remember, you are not alone. There are resources to help and educate you and your family about this. Having a medical team that is knowledgeable about this disease is essential to providing the best care for your child.
Summary (Take-Home Message)
Here are some simple things to remember about Krabbe Disease:
- Krabbe disease is a rare genetic disease that damages the nervous system.
- This destroys the protective covering called myelin that surrounds nerve cells.
- The severity of the disease and lifespan vary depending on the age at which symptoms begin (infants, children, adults). It is most severe in infancy.
- There is currently no cure, but there are supportive treatments to control symptoms and improve quality of life. HSCT (hematopoietic stem cell transplant) before symptoms appear can sometimes control the worsening of the disease.
- This is a genetic disease and cannot be prevented. However, genetic counseling can help you become aware of your risk.
- If your child has these symptoms, it is very important to seek medical advice immediately.
I hope this information is helpful to you. Remember, it is best to seek proper medical advice for any health issue.
` Krabbe's disease, Globoid Cell Leukodystrophy, Myelin, Demyelination, Genetic diseases, Neurological diseases, Pediatric diseases
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