One of the first questions parents are asked when they become pregnant is, “Who is your pediatrician?”
Your pediatric primary care provider is so important that they almost a part of your family – they answer your questions in the middle of the night, they tell you what to do when your baby won’t eat and they comfort you when you are sure that you are parenting completely wrong. But when a diagnosis of Duchenne comes along, sadly it often feels like they are not as necessary for the health of your child.
But your primary care provider is important!
Primary Care Providers (PCPs) are those physicians or nurse practitioners in the fields of pediatrics, family medicine, or internal medicine who are usually the first point of contact for patients with Duchenne and who will provide your “medical home.” They are important for the basic healthcare needs of you and your child at ALL ages of life, so it is important to build and maintain a relationship between your patient/family and PCP. Your PCP will not only provide anticipatory guidance and non-emergency medical care, but will also help you navigate your child’s developmental stages, guide your transition from teen to adult care, help you to manage psychosocial issues when they arise and refer you to the specialists that you need.
In addition, your PCP will be the person who will most likely be the first person you call in an emergency. They may need to tell the emergency care physicians what care to provide in an unexpected and urgent situation and how to reach your neuromuscular team who will work with the emergency room team to manage your care. Having the information and resources that you can share with your PCP and emergency room staff is important for the health of you/your child.
Typically, people living with Duchenne should receive the same primary care as anyone else. However, it is important to note there are several specific medical issues that may be complicated by Duchenne. PCPs are responsible for helping you or your child prevent illness and injury, by making sure that you receive:
- Immunizations on the same schedule as all other patients (with the exception of those who are on daily steroids, and should avoid live virus vaccines)
- Access to regular dental care to maintain optimal oral health
- Safety counseling, including home and vehicle safety (car seat, passenger safety, etc.)
- Developmental screening to test for issues including: intellectual disability, learning disability, language disorder, autism, and attention-deficit/hyperactivity disorder
- Identification of hearing and vision impairment
- Screening for cardiovascular risk factors such as hypertension (high blood pressure) and hypercholesterolemia (elevated cholesterol in blood)
- Standardized screening for mood disorders including depression
- Providing general nutrition advice and monitoring over time
Primary Care for Carriers
Duchenne carriers should consider these same standards of primary care. PCPs manage the healthcare of female carriers, as well as management of potential health risks, to include cardiac surveillance, skeletal muscle symptoms (i.e. weakness, fatigue and cramping), psychological implications, and reproduction/family planning. PCPs can be a valuable resource to help maintain general health, provide guidance and coordination of care, and as a reference to appropriate specialists.
Patients with Duchenne have the same illness and injuries as other patients, but some problems are more common or have more significance in Duchenne. When symptoms are mild to moderate, care may be provided by a PCP – severe problems, however, may include a trip to the Emergency Room. Examples of more severe problems include:
- Chest pain related to heart problems (cardiomyopathy)
- Abdominal pain related to more severe pathologies (peptic ulcer disease, appendicitis, etc.)
- Back pain related to vertebral fractures or renal colic (kidney stones).
- Dyspnea, or shortness of breath, should always be carefully evaluated as it could point to serious complications such as pneumonia, atelectasis (collapsed lung), pulmonary embolism, or cardiac dysfunction.
- Fatigue is a common complaint of people living with Duchenne, but should be investigated due to risks for more serious problems (i.e. respiratory or cardiac complications)
- Physical injuries, even when no break is suspected, when accompanied by confusion, shortness of breath, or any other abnormal symptoms should always be treated as a medical emergency due to risk for Fat Embolism Syndrome
Informing Your Neuromuscular Specialist
Your neuromuscular specialist should be called early by the emergency room staff, but sometimes they get busy or forget. You should always remember to call your neuromuscular team yourself to make sure that they are aware of your situation and are available to help the emergency staff guide your care.
Resources for Primary & Emergency Care
We have worked with a panel of medical experts to develop a “Pain Chart” (download). This chart discusses different types of pain, possible reasons for pain and how that pain should be evaluated and possibly treated. The PPMD Pain Chart maybe helpful in the emergency room.
A series of supplement articles were published in Pediatrics in October 2018 to dive deeper into several areas of care included in the 2018 Duchenne Care Considerations. The article “Primary Care and Emergency Department Management of the Patient with Duchenne Muscular Dystrophy” provides specialized background information that will help your PCP manage your primary care and will help the emergency care staff handling emergency issues that may arise in Duchenne. The goal of the article is to help PCPs and emergency medicine providers provide the best and most safe care possible.
The authors of this article developed a “Pocket Guide” for emergency medicine providers that outlines a quick initial approach to emergency care management. It is very important to carry an emergency card and/or have the PPMD app that provides important information about Duchenne, downloaded. Sharing this information with the emergency room staff when your child first comes in will help them to be able to provide Duchenne appropriate care.
For more information about what to do in an emergency, please visit our website.