For patients living with a rare disease such as Alport syndrome, learning how to advocate for your own healthcare is important and can be very empowering!
Self-advocacy means learning how and where to get information so you can understand your medical condition and speaking up for yourself in making decisions that affect your health and your life. It also involves listening, asking questions, expressing your thoughts and feelings, finding a doctor who is your partner, and connecting to a support system.
Below are five ways you can become more confident and effective as your own health advocate.
Learn the basics
Every patient or family diagnosed with Alport syndrome should educate themselves on the basics of Alport syndrome. Understanding your disease will help you be a more active participant in making healthcare decisions. In addition to your doctor, the internet is a great resource but the understanding of Alport syndrome has greatly increased in the last several decades so be sure to use reliable sources with accurate and current information.
It is also important to understand that an Alport syndrome diagnosis for one family member often means a diagnosis for the other family members. Ask your doctor about the inheritance pattern in your family to learn more about your family’s genetic mutation and how this may affect others in your family. Be sure to pass along information to extended family members who may also be affected!
See a Specialist
Healthcare providers who specialize in the kidneys, ears, and eyes will often know what to watch for and can help provide early detection of any changes in your disease. Having specialists you trust on your healthcare team can be invaluable. A nephrologist can treat kidneys and kidney disease, including treatment during dialysis and transplantation. Some families are also affected by eye and hearing issues and should see an ophthalmologist, ENT or audiologist. Even if you are not currently experiencing symptoms, tell your healthcare provider(s) about your Alport syndrome diagnosis so they can look for early signs of problems. If you have questions, write them down and ask your doctor at your next appointment. In addition, participating in clinical trials is a great opportunity to talk with specialists in the treatment of Alport syndrome.
Understand treatment recommendations
Until recently it was believed there was no treatment for patients with Alport syndrome. However, recent studies have shown disease progression can be slowed with the use of certain medications. The earlier these medications are begun, the more effective they are at delaying kidney failure. Every patient, caregiver and doctor should read and understand the recommendations for pediatric patients, as well as guidelines for treating adult patients.
Connect with other patients living with Alport syndrome.
Many rare disease patients feel alone in facing their disease. We encourage you to connect with other patients and families through the ASF private Facebook support group, additional social media or by contacting us directly. There are many amazing people in the Alport syndrome patient community who are willing to share their knowledge and experiences, and offer strength and encouragement as you move forward. Every patient’s situation is a little different and there is no replacement for good quality medical care, but discussions with people who have already traveled your path can provide great insights, offer reassurances about your condition and help you feel less alone.
Join the patient registry
Every family affected by Alport syndrome should consider joining the patient registry. The registry is very important for a rare disease like Alport syndrome to encourage research and notify people when they may be eligible to participate in a study or trial to find better treatments. Family members not affected by Alport syndrome and patients who have already experienced kidney failure or a transplant can also provide valuable information to researchers about genetics and disease progression.
Understanding your condition and the treatment guidelines, having a healthcare team you trust, and finding good resources for support and information can help you stay current on the care of your disease and feel confident in advocating for your own health.