Did you receive a prenatal diagnosis of Joubert Syndrome (JS) or other cerebellar abnormality? Maybe this is the first time you have heard the words “Joubert Syndrome” or perhaps you have a previous child with this diagnosis. Immediately, grief sets in while you and your family scramble to find as much information as you can about your growing unborn baby. What is JS? What does this mean for my baby and my family? Will my baby walk or talk or keep up with older siblings? Will he or she hurt or have a good quality of life? How did this happen? What are the chances that I will have another pregnancy affected with JS?
Families are sometimes presented with choices during pregnancy.
While only you and your family can make these decisions, gathering information and talking to your support system and medical community can help you decide what is best for your family.
Please know that the JSRDF hopes to provide you with the best information possible to help your family without advocating or pushing a specific agency, website, or option.
If you find yourself in this situation, use some resources to get you started on making an informed decision:
- Our scientific advisors have published a study and presentation on prenatal diagnosis in Joubert Syndrome available at http://depts.washington.edu/joubert/prenatald.php.
- Our foundation website contains the latest recommendations for medical evaluation of those affected with JS at https://jsrdf.org/healthcare-recommendations/.
- You are not alone!! Join our Facebook support group to connect with other families, ask questions, and share resources. https://www.facebook.com/groups/JSRDF/ Also, many of our families have faced similar situations and would be glad to talk to you about their experiences. Please email firstname.lastname@example.org to be personally connected with another family.
- Some families may consider adoption given this unexpected diagnosis in pregnancy. Adoption decisions are often made based on concerns of finances, single parenting, or fears of being unprepared to care for a child with special needs. No matter the reasons behind the decision, most birth parents who choose adoption for their baby do so out of love for the child. There are several national adoption agencies that specialize in working with special needs children.
- Some families may consider medical interruption of a pregnancy given devastating prenatal diagnoses. In some countries, this may be strongly recommended due to the lack of medical resources to care for children with Joubert Syndrome. Spiritual, cultural and ethnic considerations frequently impact these decisions.
- https://www.all-options.org – This website promotes unconditional, judgment-free support for people in all of their decisions, feelings, and experiences with pregnancy, parenting, abortion, and adoption.
- http://www.aheartbreakingchoice.com – This website provides resources and support for families who have terminated or are considering terminating a much-wanted pregnancy.
- Other resources for families following an unexpected prenatal diagnosis
- Beyond Prenatal Choice. Centering Corporation. Provides support and guidance for the days and weeks surrounding a devastating fetal diagnosis.
- Difficult Decisions. Centering Corporation. Offers gentle support, practical suggestions & helpful information as parents struggle with next steps following a devastating prenatal diagnosis.
- Empty Cradle, Broken Heart. Deborah L. Davis. This book is a national best seller that has been providing comfort and reassurance to parents for many years.
- Ending a Wanted Pregnancy: https://endingawantedpregnancy.com
- SHARE: Pregnancy and Infant Loss Inc. is an online community for anyone experiencing the death of a baby to provide national support and resources: http://nationalshare.org