Navigating congenital disorders, such as Down Syndrome, is a challenging journey. While much is known about Down Syndrome, there is still much to be understood. As with all medical conditions, despite having a “textbook” definition of symptoms and best management, each person is unique and requires their own individualized approach.
What is Down Syndrome?
Down syndrome, also called Trisomy 21, is a genetic condition that occurs when there is an additional (all or part) chromosome 21 present. This is diagnosed during gestation or at the time of birth. As a result, an individual with Down syndrome shares common physical traits, including a flat facial profile, slanted eyes, a short neck, and a protruding tongue. They may also have low muscle tone and shorter stature.
Additional Health Conditions
An individual with Down Syndrome is at a higher risk for developing additional health conditions, including congenital heart defects, gastrointestinal issues, hearing problems, thyroid conditions, and more. Sometimes the conditions are not initially recognized at birth, and sometimes they do not develop until later in life.
Navigating Down Syndrome
A loved one with Down syndrome needs a lot of special attention to help optimize their health and overall quality of life. As a parent with a child with Down syndrome or a caregiver, it may feel like an overwhelming job to navigate this journey. While it is a challenge, it is important to know that help is available. Many resources are available, including Down syndrome specialty medical centers. These centers are few in come and may not be available near your demographic location; however, telemedicine and advanced technology offer advanced options.
How a Private Patient Advocate fits into your navigating Down Syndrome Journey
An experienced private patient advocate can help alleviate your burden and optimize your loved one’s quality of life. A private patient advocate can assist in managing insurance and coverage issues, arranging additional caregiving, and researching additional treatment options. A private patient advocate can arrange appointments, transportation, special nutrition, and therapy arrangements. Another essential benefit is that an experienced private patient advocate can review medical records, prepare and attend medical appointments, and communicate with the care team. In addition, we will support and educate you on how you can advocate for yourself.
Reach out to Pathway Patient Advocates and let us walk with you on your journey. You never have to feel alone as you navigate this path.
Bio: Dr. Elena Borrelli, DMSC, MS, PAC, BCPA, is the founder of Pathway Patient Advocates. She has over 20 years of experience in the medical field in both clinical, administrative, and academic settings. Apart from her experience in professional practices, Dr. Borrelli has encountered frustration and discrepancies while personally navigating the health care system. Her passion is to help patients better understand the complex and often confusing medical system. Dr. Borrelli has experience in a variety of healthcare settings. Her main focus is to assist clients who are dealing with chronic conditions, rare disorders, cancer, or undiagnosed symptoms. It is her compassion, experience, and determination that set Pathway Patient Advocates apart from the rest. To reach Dr. Borrelli, you can visit her website at pathwaypa.com.
