When Chantel and Jason Funk learned that their son Bowin has adrenoleukodystrophy (ALD) in 2019, they thought that the questions about the future, and how to manage the condition, would be their greatest obstacles. But they’ve faced a challenge in finding adequate treatment for Bowin. 

As reported by CBC News, there are two therapeutic interventions for ALD. The first is gene therapy, but this is not available in Canada where the Funks live. Outside of gene therapy, the current standard-of-care for ALD is a bone marrow/stem cell transplant. 

However, the Funk family is having difficulty in finding a bone marrow donor for Bowin in Canada. As they race against time, the parents note that his brain scans are showing signs of progression and damage. 

One of the big issues in finding a donor and acquiring treatment is location. Many doctors who specialize in ALD treatment are in the United States. Though the Funk family is willing to travel if needed, the treatment can be cost-prohibitive. If the provincial medical insurer would cover out-of-state costs, the family could travel to Minnesota to pursue treatment. But if the insurer chooses not to cover costs, it would be more than $1M to pursue care. 

The family doesn’t know what the future will bring yet. But they urge people to sign up for bone marrow and stem cell registries. Additionally, the Funk family has become an advocate for improved screening and coverage options. 

About Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy is a rare genetic disorder that destroys myelin, the protective sheath around nerve cells. More specifically, ALD affects white matter within the adrenal cortex and nervous system. The condition results from ABCD 1 gene mutations on the X chromosome. These mutations prevent the body from breaking down very long chain fatty acids (VLCFA); these VLCFAs then accumulate in the brain, causing damage. Typically, males are more affected than females, with females often being viewed as carriers. However, some females can have symptomatic ALD; this rare form presents with numbness, urinary problems, joint pain, and progressive muscle weakness and stiffness in the lower legs around or after 35 years old. 

The more serious forms of ALD often manifest earlier in life. For example, childhood cerebral demyelinating ALD (the most common form) appears between ages 4-10 and is often fatal within 2-5 years. These children often show signs of:

• Attention deficit disorder
• Progressive intellectual decline and dementia
• Hearing and vision loss
• Changes in mood or behavior, such as irritability or aggression
• Crossed eyes
• Addison’s disease
• Muscle pain and spasms
• Dysphagia (difficulty swallowing)
• Seizures

Another form is adrenomyeloneuropathy, which appears between ages 21-35. Symptoms include Addison’s disease, lower extremity paralysis, ataxia, and progressive motor weakness. This form is often fatal within 5-10 years. 

Learn more about ALD through our Patient Worthy partner, Alex The Leukodystrophy Charity (Alex TLC).