Breath of Life is a compassion project that is providing answers and hope to couples who are touched by cystic fibrosis (CF) and interested in growing their family.
About the Campaign
Sequence46 was founded with a goal of increasing access to genetic testing for patients. We’re passionate about reproductive genetics and aim to improve IVF outcomes by helping families have healthy babies through our preimplantation genetic testing (PGT) offerings. With monogenic diseases specifically, oftentimes, there is an increased cost associated and we want to help remove that obstacle.
We believe that by offering free-testing, many more at-risk patients will be able to afford IVF treatment.
What is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic condition that primarily affects the respiratory and digestive systems. In affected individuals, the body develops an abnormally thick and sticky mucus that can clog the airways and damage the pancreas. The severity of CF can vary between individuals but in its classic form, CF can cause permanent lung damage requiring a lung transplant and serious digestive issues leading to poor growth and weight loss.
Fortunately, with proper treatment, individuals with CF can live well into adulthood. In addition to respiratory and digestive issues, CF also causes infertility in affected men due to congenital bilateral absence of the vas deferens (CBAVD). Fertility treatments, typically in vitro fertilization (IVF), can help these men have children.
Of note, it is recommended that affected men who may require a lung transplant freeze sperm prior to the procedure, as post-transplant anti-rejection medications are associated with birth defects.
I’m a Carrier...Am I At Risk?
CF is an autosomal recessive condition, which means that both copies of the gene (in this case the CFTR gene) must be non-functioning in order to develop the disease. Carriers of a single non-functioning gene copy typically do not develop symptoms of CF.
We Have a High Reproductive Risk...Now What?
Couples with a high risk of having a child with CF have several options when it comes to family planning. If you are not yet pregnant and want to mitigate this risk, you have the option of pursuing IVF with preimplantation genetic testing (PGT) in your embryos, specifically PGT for monogenic diseases (PGT-M).
This testing allows you to then transfer an embryo that is predicted to not be affected with CF. If you’re already pregnant, prenatal testing can be performed to determine if the baby is affected or not.
For those who do not want to undergo genetic testing (whether PGT-M or prenatal testing), there is also the option of utilizing donor egg or donor sperm, adopting a child, or preparing for the birth of an affected child.
Sequence46 is currently offering this testing through Olive Fertility Centre in Vancouver, BC and Southern California Reproductive Center in Beverly Hills, CA.
Want to talk? Contact us for more information.