September is Krabbe Disease Awareness Month!

Because a lot of times, these rare diseases are rarely talked about, it’ll be useful to deep dive into the disease to learn more about it.

What is Krabbe disease?

Krabbe disease, which is also known as globoid cell leukodystrophy, is a rare inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system. As a general rule, the younger the age of onset for Krabbe disease, the faster the disease progresses and the more fatal it is.

In most cases, signs and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2. Learn more about it here.

What are the symptoms?

Symptoms include:

• Feeding difficulties
• Unexplained crying and extreme irritability
• Fever without a sign of infection
• Declines in alertness
• Delays in typical developmental milestones
• Muscle spasms or rigid, constricted muscles
• Loss of head control
• Frequent vomiting

Eventually, these symptoms can culminate into loss of developmental abilities, seizures, and an inability to swallow and/or breathe. However, when the disease develops in older children and adults, the course can vary greatly. In these cases, symptoms also vary widely, but they may include:

• Progressive loss of vision
• Difficulty walking
• Decline in thinking skills
• Loss of manual dexterity
• Muscle weakness

What causes Krabbe disease?

Krabbe disease is caused when a person inherits two copies of a mutated gene — one copy from each parent. For those with Krabbe disease, two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase (GALC), which is responsible for breaking down certain substances in a cell’s recycling center.

How can it be treated?

There is no cure for Krabbe disease. Results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment.

How can you help?

Check out the following organizations where you can connect with the Krabbe community.

P4KR is a foundation designed to increase awareness and to support research to improve the lives of those born with Krabbe’s Disease. It was founded by Anne Rugari, who lost 2 children to Krabbe.

Anne, in conjunction with Stacy Pike-Langenfeld, also formed the organization KrabbeConnect-KrabbeConnect’s mission is to be the source of comprehensive information and access to resources for patients with Krabbe disease. 

Hunter’s Hope was established by NFL star Jim Kelly and his wife Jill, after their infant son, Hunter was diagnosed with krabbe.

So we hope you took away something new – and you pass it along the rest of the month to get a conversation going about Krabbe Disease!