Like a “speeding train on a track.”
That’s how Kelly Miettunen, MHA, describes adrenoleukodystrophy (ALD), a rare genetic condition that affects the nervous system and causes progressive neurological damage to the brain or spinal cord over time.
Catching ALD early—before the symptoms show up—is critically important to good outcomes for patients affected by the disease. Fortunately, more ALD patients will have access to early care thanks to the expansion of the Adrenoleukodystrophy Comprehensive Clinic, which is part of the Leukodystrophy Center at University of Minnesota Masonic Children’s Hospital. Miettunen is the administrator for the center.
The center recently added two new specialists Neurologist Daniel Kenney-Jung, MD, and Pediatric Blood and Marrow Transplant Physician Ashish Gupta, MD, MPH, to its multidisciplinary team.
ALD is more common in males. People with ALD cannot break down very-long-chain fatty acids. These molecules build up in the body and cause damage to the adrenal gland in 95 percent of affected males, which leads to problems with the body’s salt balance and blood pressure that can result in seizures or even death.
The cerebral form of ALD (known as cALD) affects the brain and accounts for about 40 percent of ALD cases. The nervous system cells are surrounded by a protective sheath called myelin. In cALD cases, this sheath is broken down and lost.
Symptoms of this form of ALD often appear in childhood and may initially include behavioral problems, such as hyperactivity, difficulty paying attention, or issues with coordination. Eventually, symptoms may grow to include loss of muscle control, blindness and deafness, and dementia.
Many children with ALD are not diagnosed until long after the symptoms begin. For half of those children, the disease will have progressed too far for treatment to be effective. If caught early enough, however, patients can be treated with a bone marrow transplant and other therapies.
“The goal of BMT or gene therapy is to stop the progression of ALD,” said Miettunen. “If ALD is like a speeding train on a track, then a transplant is like hitting the brakes on the train. The damage that has been done cannot be reversed.”
The center at University of Minnesota Masonic Children’s Hospital has long been a national and international destination for families affected by ALD. Our team has performed over 160 blood and marrow transplant procedures for patients with cerebral ALD, more than anywhere else in the world.
Our expanded once-a-month clinic will allow patients to access all of the specialists they need during a single visit to University of Minnesota Masonic Children's Hospital. The clinic brings together specialists in endocrinology, neurology, BMT, genetic counseling, neuropsychology, neuroradiology, pharmacology, and physical and occupational therapy, all supported by a robust group of nurse care coordinators, social workers, nurses, Child-Family Life specialists and others.
“Because of the complexity of their disease, patients with ALD need to be followed by the right specialists. It’s ideal to be plugged into a comprehensive clinic, which is what we have built at University of Minnesota Masonic Children’s Hospital,” said Pediatric Blood and Marrow Transplant Physician Troy Lund, MD.
Working as a team, our specialists bring their unparalleled experience with ALD to each case, creating a unique treatment plan that is right for each individual patient. The team’s recommendations are presented as a coordinated, comprehensive treatment plan focused on getting the best possible outcome. The clinic is open to patients nationally and internationally. An ALD registry will be open soon, with the goal of assembling an even larger resource of clinical data from families affected by ALD to help us better understand the disease.
The clinic’s growth comes at a time of increased ALD awareness. In 2016, Minnesota made ALD testing part of its statewide newborn screening program, joining the ranks of a handful of other states across the country that require testing for the disease. ALD has also been added to the Recommended Uniform Screening Panel, published by the U.S. Department of Health and Human Services, so newborn screening for ALD may soon be nationwide. Having every newborn screened for ALD means that those few who have the disorder can be followed by ALD specialists before symptoms appear.
“The ALD Comprehensive Clinic takes a systematic approach to the care and monitoring of children and adults with ALD,” said Miettunen.“If I had a child with ALD, I’d want to go the place with the most experience,” said Lund. “That place is University of Minnesota Masonic Children’s Hospital.”