Diagnosed by pre-pregnancy screening

Table of Contents:

1. Diagnosed with a APBD and Asymptomatic
2. You found out you and your partner are carriers

 

1. Diagnosed with a APBD and Asymptomatic

Now that APBD mutations have been added to pre-conception screening panels, we have seen the first asymptomatic diagnosis of APBD. We know that it is a shock to receive information like this. All of us at the APBDRF have personal experience with receiving a diagnosis for ourselves or a loved one. For many, it was an experience of being very alone and with no hope. But much changed when the APBDRF was founded in 2005 and began facilitating research, drug initiatives, community cohesiveness, and medical provider awareness. There is great promise for therapies. When you are ready, please write info@apbdrf.org or leave a message at 647-580-5610 to arrange for a personal call with one of our APBD community members.

We recommend you go to:

http://www.myjewishgenetichealth.com which has a three minute public service announcement and a 15 minute, in-depth program on Adult Polyglucosan Body Disease (APBD).

Please consider enrolling in both of our two APBD registries to provide researchers with critical ongoing information about you and the course of your symptoms.

1) CAP

Columbia University APBD Registry
https://apbdrf.org/research/apbd-registry

and

2)FAN

Foundation and APBD/NORD Natural History Registry
https://apbdrf.org/research/apbdrf-fan

After consulting with a physician who has expertise in APBD, the next most important steps you can take are joining the CAP and FAN registries and getting involved in the foundation’s work.

2. You found out you and your partner are carriers and you want to get pregnant

Now that you know, you can intelligently explore your options. Here are a few websites that may be helpful in understanding possible paths for you and your partner.

American Pregnancy Association (http://americanpregnancy.org) – This website promotes pregnancy wellness and has many helpful topics. Most notably there’s an explanation of a procedure used to help identify genetic defects within embryos . It’s called preimplantation genetic diagnosis (PGD). http://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/

From ReproductiveFacts.org, the patient education website of the American Society for Reproductive Medicine, there are many reproductive health topics on downloadable fact sheets and informational booklets. The most relevant are those on genetic screening and preimplantation genetic testing.

http://www.reproductivefacts.org/news-and-publications/patient-fact-sheets-and-booklets/fact-sheets-and-info-booklets/genetic-screening-for-birth-defects/

http://www.reproductivefacts.org/news-and-publications/patient-fact-sheets-and-booklets/fact-sheets-and-info-booklets/preimplantation-genetic-testing

AboutGeneticCounselors.com, Brought to you by the National Society of Genetic Counselors, there are discussions of what a genetic counselor does to help you with your genetic health concerns. Information on genetic testing, prenatal conditions, and even a video of a simulated prenatal genetic counseling session can be accessed via the following links. This website also offers a great tool to find a genetic counselor near your location and having expertise with your range of issues..

http://aboutgeneticcounselors.com/Genetic-Testing

http://aboutgeneticcounselors.com/Genetic-Conditions/Prenatal-Conditions

http://aboutgeneticcounselors.com/Genetic-Counseling/What-Does-Prenatal-Genetic-Counseling-Involve