An important part of living with tuberous sclerosis complex (TSC) is learning how to talk about the disorder. This includes talking with affected children about TSC, as well as with members of the immediate and extended family, friends, teachers, and medical professionals.
Individuals with TSC and parents of a child with TSC sometimes use terms like minefield or rollercoaster to describe the emotional experience of living with the disorder. The complexity of TSC, the number of specialists involved, the myriad tests that may be required, and the broad variability of symptoms can feel daunting. Communication is key to helping reduce the stigma and anxiety surrounding the disorder and to securing good medical care, needed educational services, and other forms of support.
The first steps in communicating about TSC are to educate yourself about the disorder and prepare yourself for the emotional journey ahead. This may include addressing feelings of guilt and grief about your own diagnosis or the diagnosis of your child.
Talking with Family and Friends
Communicating with family and friends—beginning with disclosing the diagnosis in an honest and appropriate way—is vital, both to help people understand the situation and to lay the groundwork for support. Be direct about TSC, and inform people of what to expect when they interact with someone who has TSC. As much as possible, TSC needs to become a normal part of life. Adopting this attitude yourself can help others do the same. It may be helpful to offer family and friends educational materials such as the information available in this Web site and the materials on the TS Alliance Web site.
In one-third of the cases, TSC is an inherited disorder, which means that it can be passed on from one generation to the next. (For more information, see Cause and Genetic Counseling.) This is another reason family members should be informed of a diagnosis and educated about the disorder and its implications. An individual with mild or asymptomatic TSC can have offspring whose symptoms are much more severe. It is recommended that people with TSC and their partners speak with a genetic counselor or someone knowledgeable in the genetics of TSC before having children of their own.
Communicating with unaffected siblings can be especially challenging. They may have fears about their own health, feelings of embarrassment toward their TSC sibling, or a kind of 'survivor's guilt' that they do not have TSC themselves. They may also be called on to answer questions from their peers: Is TSC contagious? Why does it occur? Does it affect lifespan? Education about TSC, combined with parental support, can help alleviate some of their uncomfortable feelings and help them communicate with others about the disorder.
Talking with Your Child
TSC is a highly individual diagnosis, and how and when you speak with your child about it is ultimately a personal decision. No one approach works best in every situation. However, as a general rule, medical providers and parents who have raised a child with the disorder recommend that you tell a child that he or she has TSC as soon as you feel the child is capable of understanding this information. Be honest and direct, but use a developmentally appropriate approach and vocabulary that is familiar to the child. For instance, it is probably not necessary, or beneficial, to explain to a young child all the potential complications of TSC. But it would likely be appropriate to explain physical manifestations the child will notice, the reasons for medical visits and tests, and why certain aspects of the child's life (schooling, diet, the need for medication, etc.) may differ from those of siblings or friends.
Many aspects of TSC may provoke fear in a child, or cause the child to feel stigmatized. Discussing what is currently known about the disorder—and acknowledging what is not yet known—will help address both issues. One way to reduce the stigma that the child may feel is by making clear to the child, and to others, that genetic diseases are no one's 'fault'; they are not caused by anything the child or parents did or did not do. They are a matter of chance genetic mutation, a process every human—in fact, every living organism—is subject to. No value judgment is, or should be, associated with it.
As a child grows older, he or she may need to find a way to talk about TSC with friends, teachers, and others. For example, noticeable angiofibromas may make children with TSC self-conscious, and they may undergo treatment for them; explaining this to friends can be awkward. A parent can help the child find the right words to use.
If a young person is at risk for seizures, it will be important for parents and medical providers to demystify seizures for them and to help them know what to tell others. Like other aspects of TSC, seizures are nothing to be ashamed or afraid of. They are a medical symptom that can be dealt with in a way that minimizes their disruptiveness and the anxiety of those who have them.
TSC at School
A child with TSC should not be treated any differently from other children in his or her classroom and should participate in all activities whenever possible. Overprotecting a child with TSC can do more harm than good. Still, maintaining a normal life at school may require regular communication between parents, teachers, and other school staff.
Parents of children with TSC-related developmental delays or learning difficulties should provide the school with the results of their child's evaluations, and inform teachers about specific medical, educational, and psychosocial issues that apply to the child.
If the child is at risk for seizures, teachers and others who interact with the child should know about this risk and be trained in what to do both during and after a seizure. Classmates should be educated about seizures in advance, to reduce the stigma and fear surrounding them.
In addition, parents should speak with teachers about any medications that the child must take during the school day, or arrangements that must be made relating to the ketogenic diet. Teachers should understand the reasons for these arrangements, so that they can work as part of the team that includes parents and health professionals.
Finally, it is important for parents to be both advocates and educators. This applies whether their child's case of TSC is mild or severe, and whether the discussion is on helping a teacher understand a child's absences for medical appointments, or on working on an individualized educational plan (IEP) for the child.
Talking with Medical Providers
Although this sometimes comes as a surprise, parents, caregivers, and people with TSC may find themselves taking on the role of educator and advocate when talking with medical providers about the disorder.
Medical providers may not be well informed about the disorder. By some estimates, a primary care physician might see only a handful of cases in his or her entire career. Even among physicians with some knowledge of TSC, information may be dated and may not reflect the medical profession's current understanding of the causes, diagnostic criteria, and treatments of TSC.
If TSC is present or suspected in your family, make sure that your primary care physician and your child's pediatrician know this. Ask if they are familiar with TSC and if and when they have treated anyone with the disorder. When they are making referrals, check to make sure that the specialist is familiar with TSC. You might also want to consider visiting a TSC clinic. (For a list of TSC clinics, see the TS Alliance Web site.)