WHERE CAN WE GET HELP?

Doctors and Genetic Counselors
You may have many questions concerning your child's health, and many of these questions can be answered by your family doctor or pediatrician. Your doctor may also refer your child to a biochemical, metabolic, or genetic specialist who will be able to answer more of your questions. For detailed information about the genetics of biotinidase deficiency, you may wish to see a genetic counselor who can discuss with you the chances that other family members will have biotinidase deficiency. A genetic counselor can also tell you about resources in the community that may assist you and your child.

Other families
Being the parent of a child with a rare genetic condition can be a frightening and lonely experience. You may not know any other families who share your hopes and fears concerning biotinidase deficiency. Parents sometimes find it helpful to speak to other families to hear how other children are doing or just to know that they are not alone. Your doctor or genetic counselor may be able to help you contact another family who has a child with biotinidase deficiency. Some organizations such as Parent to Parent and the National Organization for Rare Disorders (NORD), listed below, also offer this service.

Other Organizations
The following organizations may provide additional assistance:

In the U.S.

National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746.6518

March of Dimes Birth Defects Foundation 
Science Information
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 997.4624

Parent to Parent National Survey Project 
The Beach Center on Families and Disabilities 
University of Kansas
3111 Hayworth Hall
Lawrence, KS 66045
(913) 864.7606

In Canada

The Canadian Society for Metabolic Disease (CSMD) 
5301 Ranger Ave.
North Vancouver, BC V7R 3M7
(604) 986.2508

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