A genetic disease occurs when an individual has a harmful change, or mutation, in their DNA. Mutations that are known to cause or increase a person’s chance of developing a certain disease are also referred to as “pathogenic variants.”
Genetic diseases can be caused by a mutation in one gene (“monogenic”), mutations in multiple genes (“polygenic”) or a combination of genetic mutations and environmental factors. Out of the 7,000+ rare diseases, about 80% of them are monogenic, or caused by a mutation in a single gene. Some of these diseases are caused by random, spontaneous mutations, while others inherited. There are multiple different types of inheritance patterns, such as autosomal dominant, autosomal recessive and X-linked.
For a person without specialized genetics knowledge, understanding one’s own personal or familial genetic risks can be challenging. Thankfully, there are specialists known as genetic counselors trained to help individuals and families at risk or affected by genetic diseases.
Genetic counselors are healthcare professionals who work with individuals and families to empower them to understand how genetic information may impact their lives. This process is called genetic counseling. There are numerous genetic counseling specialties, such as prenatal, cardiology, cancer, and pediatrics. Genetic counselors may also work in different settings aside from patient interaction, such as consulting in a laboratory.
A genetic counselor can help people understand and cope with complex genetic information. When it comes to rare diseases, affected families often face unique psychological and medical challenges. Genetic counselors play a critical role equipping rare disease patients and families with the resources they need. They may recommend patient groups and online patient-led networks to help patients and families find support and community.
Additionally, genetic counselors may work alongside and share their expertise with other healthcare providers on a patient’s care team and help coordinate care for patients.
An individual or family might see a rare disease genetic counselor for numerous reasons, including but not limited to:
Genetic counselors can break down how family medical history and/or symptoms may indicate a certain rare disease, and discuss potential genetic testing options that can help reach a definitive diagnosis. If and when individuals/families undergo genetic testing, a genetic counselor will interpret the test results in a way that the individuals/families can understand, and work with the family to determine next steps, whether that be additional testing or finding a specialist.
They can also help individuals or families understand and explain aspects related to rare disease such as genetic inheritance patterns and risk factors. Additionally, they can discuss family planning options with individuals and couples who are at risk of potentially passing a genetic condition to a future child.
Most importantly, genetic counselors are advocates for rare disease patients and families. At the heart of genetic counseling is empowering patients and families with knowledge of genetic disease and being a supportive pillar as they navigate their journeys.
To find a genetic counselor to meet with virtually or in person, check out the National Society of Genetic Counselor’s Find a Genetic Counselor tool.
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List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.
It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.
It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.
The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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Explore the essential takeaways from Victoria's Webinar, along with some resources that she shared.
