Simply stated, MD is due to a change or mutation in the MD gene (this gene causes muscle cells to make a protein called dystrophin which keeps muscle cells working properly). When a mutation occurs, the cells make less or no dystrophin, which results in muscle breakdown and weakness. After DNA diagnostic testing confirmed that RJ has a mutation in the MD gene (specifically a deletion of exons 22-29) we began to meet with a team of doctors that will care for RJ during his journey with DMD.
Shortly, RJ will begin taking corticosteroids. Medications belonging to this group have been found effective in slowing the course of DMD. Unfortunately, several possible side effects will have to be closely monitored while he takes the medication. Major side effects that can occur include behavioral changes, failure to gain height, excessive weight gain, osteoporosis, impaired glucose tolerance, immune suppression, cataracts, and skin changes. Many of these side effects can be dealt with and will be closely monitored once RJ begins steroid medication.
Before corticosteroids can be administered, RJ met with the following doctors to obtain baseline data:
- A Pediatric Neurologist explained the pros and cons of daily corticosteroid treatment. While this medication is not a cure it is recognized as a standard of care and management for boys with DMD.
- A Pediatric Cardiologist ran a series of tests including an echocardiogram, an EKG, and a physical exam and determined that RJ’s heart is currently functioning well and showing no signs of cardiac involvement. The doctor drew a smiley face on a picture of RJ’s heart and told him that he had a happy heart! RJ will proudly show anyone his heart picture!
- A Pulmonologist administered a lung function test and was happy with the results. We learned how important it is to keep RJ from getting a simple cold or the flu because of his potential for a weakened respiratory system.
- A Dietician reviewed the importance of a low calorie, low sodium diet to help offset the weight gain and fluid retention that occurs with corticosteroids. She also recommended daily calcium and vitamin D supplements to counteract the effect of the corticosteroids on RJ’s bones.
- An Ophthalmologist performed a series of tests on RJ’s eyes to capture a baseline since a possible side effect can be cataracts.
- Genetic counseling was necessary to understand the implications of RJ’s disease on other family members. RJ’s genetic disorder was caused by a random spontaneous mutation and was not inherited.
- A tuberculosis test was also administered to make sure RJ is not currently fighting any infections.
- A bone density scan was performed on RJ’s body since osteoporosis can be a side effect.
- A Physical Therapist performed a thorough evaluation on RJ to determine his range of motion and muscle strength. RJ’s favorite appointments are the sessions with his physical therapist. In RJ’s eyes it is a one on one gym class (with an occasional frown at exercises that really stretch his very tight legs). Besides that, it is an hour of laughing, guy talk, and Star Wars dialogue.
We pray that RJ’s side effects will be minimal and will not interrupt his learning at school and his social activities. We hope this sheds some light on a very complicated disease and why different types of doctors are monitoring RJ in order to keep him as healthy as they can. Just writing this reminds us of how many times we went for ice-cream cones this summer, the only reward that continually helped RJ tolerate so many appointments!