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
At our Mitochondrial Program at Children’s Hospital Boston, we will thoroughly evaluate your child’s unique condition. Many children with mitochondrial disorders have neurological symptoms; therefore, our program is led by a pediatric neurologist, Irina Anselm, MD.
Mitochondrial disorders may affect different body systems. Dr. Anselm works closely with specialists from other clinics at Children’s, including Metabolism, Cardiology, Genetics, Gastroenterology and Ophthalmology. Each of these specialists has particular expertise in evaluating and treating children with mitochondrial disorders.
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 Children’s.
Importantly, other metabolic disorders are often mistaken for mitochondrial disorders. Here at 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 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.