patient care perspectives
Tuberous Sclerosis Complex: Tools for Helping Patients and Families With Rare Diseases
Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disease with variable disease features that may include benign brain tumors, seizures, and impaired intellectual development. Patients with TSC and their families benefit from access to specialized care, information, tools, and support.
Professor of Pediatrics and Neurology
“There are relatively few large clinics that specialize in TSC in the United States, yet access to clinicians who are familiar with this condition is essential. Online resources and organizations dedicated to people with rare diseases have become increasingly helpful in recent years. The TSC Alliance is one such resource.”
In medicine, our view as clinicians is increasingly becoming that our responsibility does not end with a prescription and scheduling the next follow-up appointment, but instead extends to helping patients and their families deal with the emotional, social, and financial burden of having a chronic illness. Consider how troubling and upsetting it is for parents to learn that their child has TSC. It is a huge adjustment. There are many stressors and demands placed on couples or parents, and they need our support.
The burden of TSC or a similar chronic disease on parents is sometimes overlooked. Parents may have other children besides their child with TSC to care for, and they still have to work and pay their bills. Further, the burden of TSC on patients can be great. We commonly are focused on the brain, seizures, and neurological development, but virtually any organ may be involved in those with TSC. For parents, this can add up to ongoing medical care for their child, typically from a variety of different specialists.
There are relatively few large clinics that specialize in TSC in the United States, yet access to clinicians who are familiar with this condition is essential. Online resources and organizations dedicated to people with rare diseases have become increasingly helpful in recent years. The TSC Alliance is one such resource. There are also organizations such as the National Organization for Rare Disorders (NORD) that not only provide information about the disease but also help direct patients and families to local resources and support.
Additionally, several outstanding organizations help with the logistics of access to medical care. At Angel Flight, for example, private pilots donate their time to provide free air transportation for medical-related needs, including for patients who need to go to a specific location where they can access care. And then free housing near the site of care is often provided by organizations such as Ronald McDonald House and the American Cancer Society Hope Lodge program. Although our patients often do not have a malignant cancer, they are, nonetheless, frequently considered to be eligible for these programs.
I think that the bottom line is that it is essential to have access to a clinic with clinicians who are experienced in TSC and the staff to guide patients, families, and caregivers through these different obstacles and barriers that may differ by state and locality. Such a clinic should have easy access to pediatric and adult specialists from various core disciplines (eg, neurology, nephrology, pulmonology, genetics, dermatology, psychiatry, and psychology), preferably all in a clinic together rather than by referral or at remote locations. Social work, nursing, and administrative support is absolutely critical in making sure that patients and families are supported and that recommendations can actually be put into action.
Angel Flight. Accessed April 13, 2022. https://www.angelflight.com
Hope Lodge. American Cancer Society. Accessed April 13, 2022. https://www.cancer.org/treatment/support-programs-and-services/patient-lodging/hope-lodge.html
National Organization for Rare Disorders (NORD). Accessed April 13, 2022. https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/
Rare Diseases Clinical Research Network. Accessed April 13, 2022. https://www.rarediseasesnetwork.org/
Ronald McDonald House Charities. Accessed April 13, 2022. https://rmhc.org
Support for patients and families. National Institutes of Health. National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center. Accessed April 13, 2022. https://rarediseases.info.nih.gov/guides/pages/120/support-for-patients-and-families
TSC Alliance. Accessed April 13, 2022. https://www.tscalliance.org