Today I am joined by Zoë Milgrom an amazing genetic counsellor to discuss spinal muscular atrophy (SMA) and what that is. As you may know, genetic carrier screening is something I am VERY passionate about. Before trying for a baby, this was something we invested in, and I believe every couple should know and understand genetic carrier screening before falling pregnant. 

Spinal muscular atrophy (SMA) is a devastating genetic disorder that affects the nerve cells in the spinal cord, leading to muscle weakness and atrophy. This condition can range from mild to severe, with the most severe form, known as SMA type 1, appearing in infants before the age of six months. These infants may have difficulty with movements such as sucking and swallowing, and may eventually lose the ability to move or breathe on their own.

SMA is inherited in an autosomal recessive manner, meaning that for an individual to be affected they need to inherit two copies of the SMN1 (Survival Motor Neuron) gene with a deleterious variation, one from each parent.This can be a heartbreaking reality for parents who, in many cases did not have the awareness of being carriers of SMA prior to the birth of a child with the disease. 

Approximately 1 in 40 people are carriers of SMA. However, because variations in the SMA gene are recessive, carriers are healthy and have no way of knowing this unless reproductive carrier screening is performed as part of pre pregnancy planning of early pregnancy care. When a couple are both found to be carriers of SMA, there is a 25% (1 in 4) chance with each pregnancy of having a child with SMA.

RANZCOG and RACGP both recommend that all people planning a pregnancy would be informed about the availability of carrier screening. For couples who find out that they have a high chance of having a child with SMA there are many options they can consider to reduce the chances of having an affected child. These can include, but are not limited to prenatal diagnosis of a naturally conceived pregnancy or IVF with Preimplantation Genetic Testing (PGT). For couples who know of their risk in advance, medicare support is available for both prenatal diagnosis and IVF. Your doctor is likely to recommend speaking to a genetic counsellor about your options.

Overall, SMA is a serious genetic disorder that can have a significant impact on individuals and their families. While the management and treatment for SMA has come a long way, it is still considered to be a life limiting condition Even though there is no cure, there are treatment options available to help manage the symptoms of the condition and improve the quality of life for those living with SMA.

One of these options is drug treatment called Nusinersen (marketed as Spinraza). This drug works by increasing the amount of the SMN protein, which is essential for the survival of motor neurons. It has been shown to improve muscle function and mobility in individuals with SMA. Another potential treatment option for SMA is gene therapy. In recent clinical trials, gene therapy has shown promise in improving muscle function and supporting life in individuals with SMA. However, more research is needed to fully understand the effectiveness and safety of this approach.

As it is common to be a carrier of SMA, carrier screening is an option for those who want to understand the chance of having a child with CF. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are a carrier of SMA, as well as more than 300 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options.

For those who are found to have an increased chance of having a child with a genetic condition, they can use this information to help make choices about reducing the chance of having a child with the condition or to prepare themselves for the birth of their baby. Eugene genetic counsellors support individuals and couples before, during and after results, and are available to help you make the best decision, based on your values and needs.

Head to Eugene’s website to find out more about reproductive carrier screening test and how our genetic counsellors can support you. 

Use code: Bumpnbub50 for $50 off your genetic carrier screening.