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Basics of Rare Diseases - Frequently Asked Questions

Last Updated on May 19, 2016
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Frequently Asked Questions

1. Which doctor should I consult to detect a rare disease?

There arenít specific experts in rare diseases, although it is best to consult an expert healthcare professional who has experience with a particular condition.

2. If my baby has a rare disease, will it be evident at birth?

Not all rare diseases are diagnosed at birth. If the baby has some unusual symptoms or characteristics, they may be diagnosed within a few weeks or months. If you suspect anything unusual, check with your pediatrician who will recommend a newborn screening test.
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3. How will I know which specialist to consult if my child has a rare disease?

Usually, rare diseases are diagnosed by treating pediatricians or physicians. He/she will further recommend which specialist to consult for treatment of the rare disease. For example, if a child has hemophilia, he/she will be treated by a hematologist.

4. How can I get my child on to a clinical trial?

Usually, the treating specialist will be updated on the latest in clinical research and trials. He/she will be the best person to give you the information regarding participation. However, you may also do your own research and connect with specialists and researchers across the globe. https://clinicaltrials.gov/ is a registry of clinical trials conducted globally. Searching the database can bring you in touch with the trial coordinators.

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