Mitochondrial diseases are a large group of chronic disorders in which the body’s cells have problems making energy. These disorders are relatively common.
They are also very complex, and can affect many different body systems in different combinations. As a result, a child with a mitochondrial disorder may be affected very differently than another child. Some patients' disease can be very serious, while others' may be stable and well-managed for many years.
Boston Children's Hospital's Mitochondrial Program is comprised of world experts with extensive experience diagnosing and treating children with suspected mitochondrial disorders. After a diagnosis is made, we provide the diverse expertise needed to evaluate and manage the various complications these children may face.
Here at Children's, your child will be evaluated and treated by pediatric neurologist Irina Anselm, MD, who specializes in caring for children with mitochondrial diseases. Dr. Anselm works with experts from other specialties at Children’s, including Metabolism, Cardiology, Genetics, Gastroenterology and Ophthalmology.
Each of these specialists has particular expertise in working with children who have mitochondrial disorders. Our doctors will work with you to develop a customized plan that manages and addresses your child's individual condition and symptoms, and we will follow your child closely throughout each stage of the treatment process.
Conditions we treat:
- Mitochondrial Encephalomyopathies
- Kearns Sayre Syndrome
- Leigh's Disease
- MELAS (Mitochondrial Encephalomyopathy Lactic acidosis, & Strokelike episodes)
- MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
- MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
We offer an experimental medication, Dichloroacetate (DCA), to patients whose mitochondrial disease has caused lactic acidosis, a condition in which there is too much lactate in the blood and spinal fluid. Children’s is one of only a few institutions in the United States where the use of DCA is approved.