During our meeting with fellow sufferers, we would discuss pre-implantation genetic diagnosis (PGD) if you wish to have children. Unfortunately, the meeting cannot take place due to COVID19, but we would like to share this information with you.
ADOA and ADOA+ are hereditary diseases, which are inherited in an autosomal dominant manner due to a mutation in the OPA1 gene. This means that as a carrier of this gene you have a 50% chance that your child will also be a carrier, regardless of gender. And 95% of people with the incorrect OPA1 gene will develop complaints. The severity of the complaints is variable and unpredictable. If you want to have children and you do not want to burden your child with the risk of ADOA, there are now options for this.
PGD has been permitted in the Netherlands since 1995. PGD uses in vitro fertilization (IVF). The woman's eggs are fertilized outside the uterus with the man's sperm cells. When the embryos are 3 to 5 days old, some cells are taken from the embryos and checked for whether or not they have the hereditary disease. The embryos without the mutated OPA1 gene are then placed back in the uterus.
Normally, in the Netherlands, a hereditary disease must first be assessed by the National Indication Committee, but this has already been assessed and approved in 1 for ADOA with OPA2017 gene. However, approval for IVF treatment still needs to be obtained.
Would you like to know more about how this process works, what the risks are or what considerations may be? Kim Warink, one of our former board members, has researched it for you and on this page described. Do you have any questions? Please do not hesitate to email us to email us.
