Individuals & Families

Accepting the Diagnosis

The diagnosis of tuberous sclerosis complex (TSC) may be made at any point in an individual’s life, young or old. A newborn infant with white spots on her skin may be diagnosed with TSC when she has her first seizure and the tubers in the brain are seen on magnetic resonance imaging (MRI). A gifted and talented 5-year-old with facial angiofibromas may be diagnosed with TSC when his caregiver takes him to see a dermatologist because of the “rash” on his face. An adult may be diagnosed with TSC after his child is diagnosed with the disease.

No matter when the diagnosis comes, it is a diagnosis that can be difficult to understand and accept, and it can be devastating for both the individual and the family. Below are some links that may help in accepting such a diagnosis.

For Parents

Disbelief and denial are the most common reactions identified by parents when they first learn that their child has been diagnosed with a disability. “This can’t be happening to me, not to my child!”  During this period of accepting the diagnosis, parents may experience many different feelings that flood the mind, heart and soul. Many parents report the feeling of overwhelming sadness, fear, anger and powerlessness to change what is happening in their life.

Parents may feel overwhelmed by the magnitude of the emotions they are experiencing and the challenges associated with the disabilities during the acceptance stage. Critical components in maintain a stable healthy life and accepting the diagnosis are being informed about the disease and communicate openly with others who understand.

Why is the diagnosis so difficult for a family to accept?

First, it can be difficult to diagnose TSC, and it may have taken the individual with TSC several weeks or months, and visits to several physicians, before he or she received the correct diagnosis. In a survey of families associated with a TSC support group in North Carolina, the average delay from the onset of infantile spasms to proper diagnosis of the seizure type and of TSC was 65 days, and a median of three physicians were visited before the diagnosis of TSC was established. A neurologist made the diagnosis in 71 percent of the cases, and by a pediatrician in 21 percent of the cases. Only 57 percent of the children with infantile spasms were diagnosed by the initial physician as a seizure, and it was the most likely seizure type to lead to an inappropriate physician response to the family. Families may have been told that it was colic, indigestion, gas or just an over reactive infant. Inappropriate physician response to initial inquiries from the family, usually the mother, can cause a breakdown in the patient-physician relationship that can lead to anger and distrust.

For many parents, the lack of professional support in their care-giving crisis began early. Most parents interviewed in her study stated that it was immediately apparent to them at birth that there was something different and possibly wrong with their child. However, physicians and nurses ignored their input. Second, some cultures may have a social stigma toward individuals with genetic conditions. Some individuals will be told that they have inherited “bad” genes. Alternatively, people are just frightened by the unknown and do not know how to react to the diagnosis of TSC, or of a family member who has been diagnosed with this genetic condition. As we learn more and more about the human genome, we have come to realize that most everyone has at least one or two mutations in their genes – some of these mutations will cause no problems, and others will result in either the diagnosis of a genetic condition, and/or will predispose the individual to developing a particular medical condition depending on their environment, the makeup of the rest of their genome, and/or other factors that we do not yet understand. As the diagnosis of genetic conditions becomes increasingly common, we will find a greater acceptance in the public of these diagnoses, as well as a greater understanding and compassion for the individuals with the conditions.

Accepting the diagnosis is not an easy first step to take for many parents. Listed below are recommendations that have been helpful to parents who have recently learned that their child has a disability:

  1. Take care of yourself
  2. Keep the daily routine as normal as possible
  3. Seek out others who understand
  4. Take one day at a time
  5. Learn the terminology and ask for information
  6. Learn to formulate questions by writing them down before the appointment or meeting; and
  7. Find programs in the community for you and your child.

Telling My Child He/She Has TSC

The right time to tell your child he or she has tuberous sclerosis complex (TSC) will depend on the family dynamics, the child’s abilities and maturity level, and the clinical manifestations of TSC seen in the child. In an informal survey of 10 families with children with TSC, each family had their own unique approach to telling their child that they had TSC. Most of the families indicated that the best time to tell the child was when they were very young so that they grew up knowing that they had TSC. Some parents regretted not telling their child when they were younger because they felt they could have spared their child from being fearful of the doctor’s appointments and unknowns about their condition if they had told them earlier. Several individuals indicated that telling a teen they have TSC was not the thing to do! The teen years can be especially difficult to start with, but then having to tell a teenager that they have a genetic condition can be devastating to them at a time when their self-esteem may be suffering already.

Several parents indicated that answering the child’s questions in as simple and straightforward a manner as possible was the best approach. The child may be happy with just knowing that there is a name for their condition, and that this is why they have to go to the doctor. Explaining that it is important to get a “picture” of their brain, and the only way this can be done is with either a MRI or a CT scan, may help them to understand why these tests are being done.

One parent indicated that it helped to talk to her child about other individuals with TSC so that the child began to understand that there are many forms the condition can take. The child would ask, “What kind of TSC does he have?” when the mother referred to an individual she knew. It provided the opportunity for the mother to tell the child what this individual’s clinical manifestations of TSC were, and to then tell the child that they do or do not have these same manifestations. Introducing a child with TSC to other individuals with the condition can also be extremely helpful. It helps a child feel that they are not alone with their condition if they know that there are other individuals out there who are living and coping with TSC.

Telling My Other Children Their Sibling has TSC

Research has shown that it is important to inform the siblings about the diagnosis of their brother or sister, and to make sure that their needs are being met. It can be stressful and difficult for the sibling to comprehend what is happening to their sibling if the child has frequent hospitalizations and/or visits to the doctors. A young child may be frightened that they caused their sibling to get sick, or that they themselves will get sick and have to go to the hospital. There may also feel neglected if the child with TSC has chronic health needs and requires a lot of time and attention from the parents.

As with the child with TSC, it is important that as parents you are honest and straightforward with the siblings. They need to understand that they cannot “catch” tuberous sclerosis from their sibling, and that they were not responsible for their sibling’s condition. If they are brought into the process, understand that their sibling has special needs, and they are a very important part of their siblings life, they will accept from a very early age the challenges placed on them and their family. This is not to say that it will always be a smooth road – there will be times when the siblings feel neglected, angry or concerned. It is during these times when it will be important for the parent to give some special attention and time to the siblings so their concerns and needs can be attended to.

Parent Support Resources

The Technical Assistance Alliance for Parent Centers coordinates the 106 Parent Training and Information Centers (PTIs) and Community Parent Resource Centers (CPRCs) as they provide training and information to parents with disabilities. With at least one center per state, these centers serve families of children and young adults from birth to age 22 with all disabilities: physical, mental, learning, emotional and attention deficit disorders by providing the following types of assistance:

  • train and inform parents and professionals
  • help families obtain appropriate education and services for their children with disabilities
  • work to improve education results for all children
  • resolve problems between families and schools or other agencies
  • connect children with disabilities to resources that address their needs

Web site: The Technical Assistance Alliance for Parent Centers