Krabbe Globoid Leukodystrophy – What Is This Disease?
Krabbe globoid leukodystrophy is a rare disease, affecting a very small number of people compared to the general population. In Europe, a disease is considered rare if it affects 1 person in 2,000.
Krabbe disease is a disorder of the central nervous system that leads to its gradual destruction, ultimately causing the patient’s death. Unfortunately, there is currently no treatment available for this disease.
How Did Wojtek’s Story Begin?
Until the age of 2.5, Wojtek developed normally, like his peers, and there were no indications that he was ill. However, at the age of 2.5 years, the first symptoms began to appear, which caused concern for his parents.
The first symptom was a limp in his right leg, followed by imbalance. After many weeks, a diagnosis of Krabbe globoid leukodystrophy was confirmed. His parents began searching for information about the disease and potential treatment options, eventually discovering stem cell therapy.
The first consultation took place in February 2019, but by that time, the disease had progressed rapidly. Wojtek was already in poor health—he could no longer walk, his arms were immobile, he had difficulty breathing, and his body had become limp.
Effects of Stem Cell Therapy
Fortunately, Wojtek was qualified for stem cell therapy, which was the only available treatment for his condition. After receiving approval from the Bioethics Committee, the boy was administered stem cells from umbilical cord blood.
The effects of the therapy were visible and very promising. The disease progression slowed significantly, and Wojtek’s motor skills, ability to swallow independently, and contact with his environment improved. He became less spastic, more resistant, and even started attending kindergarten. The stem cells acted on Wojtek’s body like a burst of energy.
Unfortunately, while stem cells could not cure Krabbe’s Leukodystrophy Globoid, they played a crucial role in slowing the disease’s progression, significantly improving Wojtek’s daily functioning.
Wojtek continued to receive stem cell injections every 4 weeks. However, less frequent treatments led to a recurrence of symptoms—motor functions deteriorated, spasticity increased, and problems with swallowing resurfaced.
What Is a Medical Therapeutic Experiment (MEL)?
A Medical Therapeutic Experiment (MEL) refers to the use of a therapy that is not considered standard for a given disease but is used when no other treatment options are available or when previous treatments have failed. Any therapy carried out as part of a medical therapeutic experiment requires approval from the Bioethics Committee.
Stem cells from umbilical cord blood are classified as an experimental therapy, unlike stem cells from umbilical cord blood, for which treatment is reimbursed by the National Health Service. Despite the positive effects of stem cell therapy in Wojtek’s case, which made daily life easier for him and his parents, the Bioethics Committee eventually gave a negative opinion, leading to the cessation of the treatments.
However, Wojtek’s parents continued their fight to keep the therapy available for their son, as it provided him with a substitute for normalcy.