More on Mitochondrial Disease

By Susan N. Schriber Orloff, OTR/L

Since my article on mitochondrial disease came out (ADVANCE, Jan. 8, 2007), I have received many e-mails asking for more information. Most of the questions were about the tests that are involved in diagnosing this condition and what we as occupational therapists can do both during and after testing to help our patients and their families in this process.

The diagnosis for mitochondrial disease is usually a lengthy process that begins with a screening of energy metabolism to look for thyroid and other metabolic issues. If the results of these screenings are within normal limits, and there are other suspicions of mitochondrial disease, then more tests may be needed. The tests go from non-invasive to very invasive.

The second step in this process may -include a spinal tap and the insertion of a catheter to collect and measure urine over time for testing. The third series of tests are both invasive and very expensive. Metabolic tests that require fasting are particularly risky for these patients because of the energy loss (usually referred to as metabolic decompensation). A muscle biopsy may also be needed; when administered to children, this often requires anesthesia.

Measuring electrolytes, amino acids, ketones, fatty acids, glucose and other normally occurring elements found in the blood can lead to a specific diagnosis. In addition, investigating the mitochondrial DNA to look for mutations can assist the doctor in creating a protocol for treatment.

Because there is not a specific set of identifying features, diagnosing mitochondrial disease is often complicated. The issues that appear with this disease can also appear with a variety of other conditions, including (but not limited to) hearing deficits, eye-muscle problems, cardiomyopathy, hypotonia, migraines, seizures, gastric reflux disorders and hearing. Most of these conditions can and do present without an existing diagnosis of mitochondrial disease, which makes ferreting out this disorder very difficult.

Since mitochondrial disease is an "umbrella" for many discrete conditions, isolating these individual conditions is essential to implement proper treatment. Treatments may include vitamin and enzyme replacement therapies; high-carbohydrate/low-fat diet; avoidance of certain food additives such as MSG; environmental concerns such as avoidance of cigarette smoke (too much carbon monoxide); and avoidance of certain physiologic stresses which could result in energy loss, such as cold/hot weather exposure (shivering or excessive sweating could be risk factors for these individuals).

So how does occupational therapy assist these patients?

First, particularly with children, occupational therapy should treat the whole family. This is a serious condition that can be very baffling and upsetting to parents and siblings. Other children in the family may "know" but not really understand why their brother or sister is getting "so much attention." The mother (who is generally the primary caretaker) needs to be monitored for her stress. Respite care for Mom should be factored into the family routines. Dad may need to become more aware of ways to organize the family to meet needs and minimize emotional stress.

For the patient, the main goal is to restore, maintain and preserve muscle strength. The implementation of exercise routines may be essential for the child. The whole family may be able to do these exercise routines together so that it is not isolating for the patient.

If the condition has significantly progressed, then the occupational therapist is the specialist who can provide wheelchair fittings and modifications as well as assistance with other daily life needs.

Providing both the child and the family with energy conservation techniques and environmental adaptations assists in normalizing the home to keep family life at the center, instead of the diagnosis.

Susan N. Schriber Orloff, OTR/L, is the author of the book Learning RE-Enabled, a guide for parents, teachers and therapists (a National Education Association featured book). She was named Georgia OT of the Year for 2006, and is the CEO/Exec. Director of Children's Special Services LLC, an occupational therapy service for children with developmental and learning delays in Atlanta. She can be reached through her website at www.childrens-services.com or at sorloffotr@aol.com.