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 Boston 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:
Kearns Sayre Syndrome
MELAS (Mitochondrial Encephalomyopathy Lactic acidosis, & Strokelike episodes)
MERRF (Myoclonic Epilepsy with Ragged Red Fibers)
MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
Mitochondria are the “power plants” of all cells in the human body, producing the energy we need to function. In mitochondrial disorders, the ability of the mitochondria to produce energy is impaired.
All organs of the body need energy. Children with mitochondrial disorders may have a wide variety of symptoms, ranging from chronic fatigue and exercise intolerance to severe developmental delay, seizures, strokes, and even heart and kidney failure. In some patients, the disease progresses quickly, while in others, it may be stable for many years.
Mitochondrial disorders are relatively common: it’s estimated that they affect about one in 5,000 children. The causes and the symptoms that children experience are diverse, so diagnosing mitochondrial disorders can be challenging.
Evaluating your child's symptoms
Making an accurate diagnosis may require a number of different tests. Some of the tests that your child may need are:
- biochemical tests on blood and spinal fluid
- genetic testing
- muscle or skin biopsy
- MRI of the brain and spine
- heart and kidney ultrasound
We help to coordinate any tests your child needs, most of them being performed at Boston Children’s.
Importantly, other metabolic disorders are often mistaken for mitochondrial disorders. Here at Boston Children's, we try to make sure that this possibility is addressed, and have recently opened a new Neurometabolic Program housed within the Department of Neurology. Children referred to this program are seen by Dr. Anselm and by Gerard Berry, MD, director of the Metabolism Program. Dr. Anselm and Dr. Berry assess patients together on the same day.
Mitochondrial diseases are generally caused by one of many different genetic “mistakes”—either inherited or “spontaneous” (changes that occur in the DNA of only the affected child). We may recommend genetic testing of your child in order to help us accurately diagnose his or her condition.
Mitochondrial disorders are often inherited; therefore parents sometimes need to be tested themselves. We may refer you to a genetic counselor for further evaluation.
Managing your child's condition
While no cure exists for mitochondrial diseases, many of their symptoms can be managed. The mainstay of treatment is high doses of particular vitamin supplements, which help mitochondria produce energy. We also provide whatever treatment is appropriate for the specific symptoms your child has. If at any time your child has to be admitted to Boston Children’s as an inpatient, our team will follow him or her while in the hospital.
In many cases, when symptoms are caught and addressed early, the outcome is better. Your child will be followed closely and screened for a variety of symptoms, such as heart, vision and hearing problems. We are also vigilant that our patients get the nutrition they need, so we often work with registered dieticians in the Metabolism Program.
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