Growing up, Priscilla Veneklause watched as her father struggled to manage his rare genetic disorder: adrenoleukodystrophy (ALD). Unfortunately, her father lost his fight with ALD when Priscilla was still in young adulthood. But Priscilla herself faced a new battle when her son, Landen, was also diagnosed with ALD. 

When the Veneklause family heard about the gene therapy trial at M Health Fairview Masonic Children’s Hospital, they jumped at the chance to take part. In adrenoleukodystrophy, ABCD1 gene mutations cause the buildup of very long chain fatty acids (VLCFA) in the brain, which causes myelin sheath damage; myelin is the protective covering of nerve cells. The gene therapy, which uses a stem cell transplant, replaces the defective ABCD1 gene with a functional copy. 

Landon underwent treatment after the family traveled from their home in Grand Rapids, MI to Minneapolis, MN. M Health Fairview Masonic Children’s Hospital is one of only four global sites offering this now FDA-licensed gene therapy. 

Although Landen experienced some pain from the procedure, his treatment was incredibly effective. According to his doctor, the gene therapy seemed to not just preserve and support Landen’s skills, but actually seemed to halt disease progression. 

Understanding Adrenoleukodystrophy (ALD)

As described above, adrenoleukodystrophy (ALD) is a rare genetic disorder which causes myelin sheath destruction from VLCFA accumulation in the brain, nervous system, and adrenal gland. Because the gene mutation for ALD is X-linked, males are more significantly affected than females. The most serious form of adrenoleukodystrophy occurs between ages four and ten and can be fatal within 5-10 years. 

Symptoms vary based on the specific form of ALD: childhood cerebral ALD, adrenomyeloneuropathy, Addison’s disease, and female ALD. For the purpose of this article, we will focus on childhood cerebral ALD. Potential symptoms can, but do not always, include:

• Hearing and vision loss
• Nausea and vomiting
• Unintended weight loss 
• Attention deficit disorder (ADD) 
• Addison’s disease 
• Appetite loss
• Dysphagia (difficulty swallowing)
• Muscle spasms
• Crossed eyes
• Low blood sugar
• Headaches that worsen in the morning
• Aggression
• Progressive intellectual decline and/or dementia
• Loss of muscle control
• Seizures