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Dealing With a Diagnosis of Niemann-Pick Disease

Receiving a new diagnosis of a chronic debilitating disease in your child initiates a grief reaction, or a process called chronic mourning or chronic loss.

THIS IS A NORMAL REACTION. You may find you or your spouse/partner going through some of the following reactions. These are anticipated responses but need to resolve with time so that family functioning can be maintained.

Stages of grief:

  1. Denial – Feelings of disbelief; thinking that the diagnosis is not correct, expressed as “they must be wrong,” “this isn’t happening to me,” doctor-shopping in hopes of getting better news.
  2. Anger – Feelings of extreme irritation, often directed toward the giver of the diagnosis or others in positions of responsibility.
  3. Bargaining – A give-and-take discussion or negotiation to reach an outcome that is agreeable to all, expressed as “I promise I’ll be better if…..” or “please make it a lesser disease.”
  4. Depression/despair – Feelings of inadequacy, being overwhelmed, sadness, expressed as “I don’t care anymore,” “I can’t deal with this.”
  5. Acceptance – Feeling ready to go forward and take charge, of believing the situation, expressed as “I’m ready to deal with this.”

These stages can happen at different times or rates for different people.  Some may move from one stage to the next, and then drift back to a previous stage as issues resolve, then new frustrations arise, and then resolve again. The process may also be vastly accelerated or modified because of general access to a sometimes overwhelming amount of information via the Internet.

There are many variations of the general responses above. Other common reactions include:

  1. Fear
  2. Guilt
  3. Shame
  4. Sadness
  5. Preoccupation with the affected child
  6. Withdrawal from the affected individual, either conscious or unconscious. (may represent fear of attachment)
  7. Somatic distress: stomachaches, fidgeting/restlessness/over-activity,
  8. headaches, appetite change, etc.
  9. Sleep disturbance – too little or too much
  10. Social withdrawal
  11. Confusion
  12. Overwhelmed with information/complexity
  13. Stress – about the future, about finances

It is important to understand that you and your spouse/partner are not likely to go through the same process of reacting to the new diagnosis. One may be more emotional while the other is more clinical – an information seeker; one may be angry while the other is more accepting; one may be withdrawn while the other seeks interactions with others to maintain a feeling of normalcy. This may be OK, or you may find this frustrating, irritating, infuriating – but it’s normal.  People are different. What is often needed is some give and take: one person is feeling overwhelmed while the other can keep things moving forward. There needs to be understanding of these differences and empathy for the other person. Your turn will come…

Another aspect of dealing with a new diagnosis in the information age is your immediate awareness of the natural history of the disease; this means that you will know what is to come as the disease affects your child over time and what you will experience in the future. If you are on the NNPDF web site (and you are!), you understand the lack of specific treatments, the deaths of affected individuals of all ages, the frustrations of dealing with the disease as it develops, the coping styles of other individuals, and the differences in reliance on spirituality and other coping tools. All of this when you haven’t even had a chance to react, much less figure out how you will cope with the disease and the frustrations about uncertainty that you are already dealing with yourself.

One way to begin to wrestle with all of the information and feelings is to reach out for support. Through NNPDF and through local organizations, you will find many helpful individuals who understand the complexities you face. You might identify a social worker or nurse through your physician’s office, for example.

Don’t be afraid to reach out, but also don’t be afraid to slow the helpers down or take a step back if things are moving too quickly for you or if someone offers more information than you are ready to take in.  People want to help and are often waiting to be told what to do. This can be an added burden for you, so you may want to rely on those closest to you to help provide direction such as:

Family, although they may be as overwhelmed as you are;

Friends, who may be in best position to help because they don’t share the same fears or have the history of family dynamics (siblings, parents, etc.);

Minister/other resources in spirituality/meditation.

You also need to remember to take care of yourself. You can’t provide good care if you are exhausted or unwell.  See “Coping Emotionally” and “Care for the Caregiver” on this site for more detail.

Another way to help you and those close to you work together is to understand that there are different ways that people cope.  Some of these coping styles are survival mechanisms that might be fine in the short term but will need to resolve with time.  Some are great ways to move forward in a healthy way to deal with the diagnosis and the needs of your affected family member.  At different times, you may see yourself as one of the following:

  • Confrontive – trying to change things/others
  • Distancing – going on as if nothing happened
  • Self-controlling – keeps feelings to oneself
  • Seeking social support – engaging in conversations in hopes of learning something
  • Accepting responsibility (in a negative way) – criticizing oneself
  • Escaping/avoiding – hoping for a miracle (OK sometimes, but not a good long-term coping mechanism)
  • Planning – identifying and following an action plan
  • Positive reappraising – identifying existing or potential positive outcomes

The key is to focus on the positive, productive ways to cope and to keep things moving forward. If you experience a prolonged period of time where coping is very difficult or impossible, it is essential to seek professional assistance.