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First Response to a New Diagnosis

First Response to a New Diagnosis, Who or What Might Help?


Families faced with a new diagnosis feel a wide range of emotions, but one of the strongest is the desire to help their child as much as possible. There are two things you can begin doing immediately to help your child:

  • Build strong relationships with caring physicians. All forms of Niemann-Pick Disease are extremely variable in symptoms and progression. Each child may have different symptoms and unique reactions to treatment. Families can often see changes in their child before medical professionals who see them only periodically. Identify a doctor or specialist who is responsive to your concerns. The sooner symptoms are treated and side effects minimized, the better the results.
  • Begin raising funds for research. Research is essential to finding effective treatments and a cure. As one parent said, “When I first got the diagnosis, I was lost and angry. I needed some way to fight this disease. Fundraising was how I could fight back.”   Review our Donations and Fundraising sections for more information about fundraising.

There is currently no cure for any of the forms of Niemann-Pick Disease, but research continues to move toward effective targeted therapies. In the meantime, prompt symptomatic and supportive treatments will help maintain a higher quality of life. Many doctors, therapists, and specialists may be involved at different stages of the disease.


Pediatrician, Internist or Family Practitioner

  • Symptomatic treatment
  • “Normal” illnesses

Neurologist

  • Seizure medications
  • Cataplexy medications
  • Neurological assessments

Metabolic/Biochemical Geneticist

  • Subspecialty management of directed therapies (when available)

Physical therapist, occupational therapist, and/or
rehabilitation therapist

  • Walking and balance
  • Motor skills
  • Posturing

Nutritionist/Dietitian

  • Dietary advice
  • Special foods when swallowing is difficult
  • Supplements

Swallowing therapist, Pulmonologist and/or respiratory therapist,
Gastroenterologist

  • Feeding tube
  • Irritable Bowel/Crohn disease

Orthopedist/Orthotist

  • Bone mass assessments (when a wheelchair is used)
  • Bracing

Psychologist and/or social worker

  • Dementia
  • Local, State and Federal resources

Speech therapist, Education and/or IEP specialist,
Supportive treatment

  • Feldenkrais
  • Massage therapy
  • Other