A couple carrying SMA successfully gives birth to healthy twins

Bebe(貝貝), a 38-year-old mother, and her husband, who are both SMA (Spinal Muscular Atrophy) carriers, had a difficult journey. They did, however, recently share a heartwarming story about giving birth to healthy twins at Lee Women's Hospital in order to encourage other hopeful parents who may be facing similar challenges.

"We are thrilled to share our story and experiences with other couples dealing with similar issues, and we hope to provide some encouragement."

Previously, we discovered that our unborn child was at risk of SMA, a genetic condition known as Spinal Muscular Atrophy, during a routine pregnancy check. This condition is inherited from both parents and posed a health risk to our child. We had to have an amniocentesis procedure to confirm our baby's health.Unfortunately, the results confirmed that our baby had SMA, and there were no SMA medications covered by insurance at the time. This situation placed a significant strain on our child, us as parents, and our entire family. We had to make the difficult decision to terminate the pregnancy at some point.

We decided to seek the expertise of Lee Women's Hospital, which has an independent laboratory, at the age of 37. We pursued PGD-M and PGD-A testing under the supervision of Dr. Pin-Yao Lin in order to identify healthy embryos. We also had amniocentesis during pregnancy to ensure the health of our child.

We desired to have healthy children. Aside from natural conception, IVF with PGD-M and PGD-A testing is an option. Despite our best efforts, we were unable to conceive naturally. We considered IVF because of our age. We chose Lee Women's Hospital because we knew they had an independent laboratory. Our hearts found some peace after undergoing embryo testing."

At the same time, we experienced a range of emotions during each PGT-M + PGT-A screening. On the one hand, we were disappointed and surprised by the scarcity of healthy blastocysts available for use. Only two of the nine embryos were healthy, with one being a SMA patient and the other six having chromosomal abnormalities. We were relieved, on the other hand, that we had chosen IVF with PGT-M and PGT-A screening, which helped us identify a high likelihood of unhealthy embryos. We were able to prevent the mother from carrying an unhealthy fetus, which would have been painful for both the mother and the child, thanks to this advanced screening.

We are also grateful that natural conception did not occur later. Otherwise, there was a high risk of carrying a sick fetus. As a result, we chose IVF with PGT-M and PGT-A screening, which resulted in the birth of healthy children."

We hope that others can avoid the agony of abortion and find the right path.

"I conceived naturally when I was 34 years old and pregnant with my first child in 2016. SMA screenings were not as common as Down syndrome screenings at the time. In fact, I'd never heard of SMA before. During my prenatal check-up at National Taiwan University Hospital, Dr. Song suggested the SMA screening. She informed me that SMA was the second most common genetic disease in Taiwan, following thalassemia, and that screening was inexpensive. If the mother was a carrier, Dr. Song advised screening both parents.

We are immensely grateful to Dr. Song, who recommended the SMA screening to us. Many of our friends and family members who had children back then hadn't heard of or undergone this screening. We genuinely appreciate encountering this doctor because without her guidance, our story might have taken a different turn. After all, SMA screening was not widely promoted at the time."

Genetics is a very complex subject. My older sister did not have SMA screening with her first child because doctors advised her not to. However, after my experience, she requested the screening when she was pregnant with her second child. Fortunately, she was not a carrier.

I strongly advise couples to have pre-marital or pre-conception health checks. Please keep regular prenatal check-ups during your pregnancy because you never know what complications may arise.

Lastly, I'm extremely grateful to Dr. Pin-Yao Lin for blessing us with two healthy daughters. She has rewritten my life, and I'm thankful to the Lee Women's Hospital team for making our lives more complete. I sincerely hope that everyone can have healthy children because I have experienced the pain of the alternative. I wish that no one has to go through such experiences."