What Is a Genetic Counselor?
A genetic counselor is a healthcare provider who specializes in helping and empowering families on how to navigate the complexities of a genetic condition. Genetic counselor’s (GC) receive specialized training in genetics, communication, counselling, and coordination of services for complex medical conditions like Krabbe disease (KD). Many families living with Krabbe disease may have encountered a genetic counselor:
- During a hospital stay as doctors attempt to gain a diagnosis due to unexplained medical concerns and/or symptoms
- Before a genetic test is performed
- During a scheduled medical geneticist appointment to gain additional information after a diagnosis was confirmed
- During a visit to a high-risk OB/Gyn
Just like doctors and nurses, genetic counselors often become specialized in one or more areas of interest. Some of the areas of interest for genetic counselors are as follows: prenatal, cancer, pediatric, adult, neurology, ophthalmology, metabolic, and research. If you would like to work with a genetic counselor familiar with Krabbe disease, it’s important you locate a skilled GC in metabolic and lysosomal diseases. This subset of genetic counselors can often be found through The National Society of Genetic Counselors consumer site or by reaching out to KrabbeConnect.
How Does a Genetic Counselor Help?
Skilled genetic counselors typically discuss family history, genetic testing options, and diagnosis, but many are also experts in care, treatment, and can monitor recommendations for specific metabolic and lysosomal diseases. A genetic counselor can be involved with any of the following activities:
- Coordinating clinical trials/research
- Educating healthcare providers, schools, and other systems about Krabbe disease
- Working closely with patient support groups such as KrabbeConnect, United Leukodystrophy Foundation, NORD, and more
- Working with metabolic medical geneticists to be your “quarterback” on a patient-centered care team
- Offering insights on where to gain a second opinion or connecting you with clinicians specifically specialized in Krabbe disease
- Discussing published data on Krabbe disease
Dealing with a rare disease diagnoses is scary, difficult and daunting. Answers to your questions often are not readily available to you, your physician, nurse, or other medical care providers. Therefore, KrabbeConnect recommends finding a genetic counselor to be part of your patient-centered care team. Genetic counselors are great advocates, life-long learners and enjoy investigating the answers to your questions.
What Is a Patient-Centered Care Team?
A patient-centered care team (also called a medical care team) is a group of medical staff intended to enhance communication between healthcare providers from different specialties and increase communication between your local medical team with the “true” clinical expert/s of Krabbe disease.
How Do You Create a Medical Care Team?
The creation of a patient-centered care team begins with finding your “quarterback.” This may be a neurologist, a pediatrician, a medical geneticist, nurse, genetic counselor, or any type of healthcare provider that can do all of the following:
- Successfully lead and interact with each member of the care team to permit quick and effective correspondence with the patient and their respective family/caregivers when answering questions, setting up appointments, and conveying pertinent recommendations
- Are comfortable reviewing medical records and recommendations from other healthcare providers and any “true” clinical expert/s of the disease
- Is receptive to learning all about Krabbe disease and maintains an open mindset when working with the patient/family/caregivers to develop individualized care plans
Once you’ve identified a provider that fits the above recommendations for a “quarterback,” request a meeting with them to discuss this opportunity to support your patient-centered care team. Once the healthcare provider accepts this role, it’s important to implement a personalized care plan for the treatment of Krabbe disease and devise a game plan to help you easily navigate the wide range of needs, from general health questions to urgent medical circumstances, you may encounter with KD.
What Exactly Does the “Quarterback” Do?
The “quarterback” will help you effectively communicate with members of your patient-centered care team, aid in facilitating necessary appointments, email a specific care team member a question/s, provide communication through a patient portal, assist in connecting you to the on-call team member during an urgent circumstances, and more. The relationship you have with the “quarterback” of your care team is like an agreement. The “quarterback” agrees to coordinate the care; you agree to communicate any concerns you have and follow their recommendations to the best of your ability. Communication is the core of this care plan.
Why a Patient-Centered Medical Care Team?
Studies on quality of life, quality of medical care, and overall patient/family satisfaction have found that working with a patient centered medical care team revolutionizes quality of care and outcome. This is due to the improved communication throughout the medical team and improved compliance by patients and families1.
If you need assistance in learning about patient-centered medical care teams or looking for key members of a care team, please reach out to KrabbeConnect and we would be happy to assist.
- Davis K, Schoenbaum SC, Audet AM. A 2020 vision of patient-centered primary care. J Gen Intern Med. 2005;20(10):953–957. doi:10.1111/j.1525-1497.2005.0178.x