The fear of unknown genetic disease
Ten years ago, I was still working at the hospital. In the weekday afternoon, a young couple walked in for the purpose of “pregnancy consultant”. After explaining the examination before pregnancy, I asked them whether they have questions. The couple looked at each other and kept silent for a long while. After a period of silence, the girl finally broke the silence and said slowly ”My father and grandfather are both patients with cerebellar atrophy, and they developed the disease around 40 years old.” Watching family members suffer, the entire family's life has been disrupted. The young couple worried the same situation might happen to themselves and the next generation, so they did a lot of research on the Internet and consulted geneticists. After many investigations, they learned that cerebellar atrophy is a hereditary disease. This means she is also at risk of cerebellar atrophy.
However, even though she knew all this, she didn’t have the courage to take a blood genetic test. She was afraid that she would be confirmed to be a carrier, which means she would enter the fear of counting down every day to worry about getting sick. Because of this disease, she postponed the marriage with her boyfriend. She was afraid that the care after the disease would drag down her partner. She also didn’t know whether it would be suitable to give birth to the next generation. Would her children be like her, carrying unexploded bombs their whole life? Do you want to gamble your luck and give birth to the child first? Maybe you will win the bet, the child will be normal; or maybe with more advances in medicine in the future, there will be a way to delay the development of cerebellar atrophy? After several consultations with doctors, the girl was finally persuaded to undergo a blood test, so that she would at least know whether she was a carrier or not.
A few weeks later, the report came out unexpectedly: "Gene abnormalities in cerebellar atrophy type 3." The atmosphere during that medical consultation was extremely solemn. For the girl, it was like a death penalty. The genes she carries can’t be changed through her life. She must face future physical changes and the test of love. The boy held the girl's hand tighly all the time. Also, we briefly discussed the impact on the next generation. After that, I never saw the girl again. Ten years passed quickly. I wonder if she is okay? I almost forgot about this past event and was still busy with my work every day.
A recent patient reminded me of this incident. A pretty-faced Miss W, 30 years old. Holding the hand of her husband, she staggered into the clinic. She had not been pregnant in more than five years of marriage. Two years ago, Ms. W began to have symptoms of physical incoordination, and then her speech began to become unclear. It has now been diagnosed as cerebellar atrophy. Ms. W’s parents died early due to an accident. She has never seen her parents suffer from the same disease. At first, they thought "maybe maybe not" about whether their future children would have the same disease, and didn't pay much attention to it. However, as Ms. W's symptoms became more and more serious, they began to search for information online - will the next generation suddenly become ill like their mother? For this couple who have been married for a while, not being able to conceive a child is a worry, but when they are actually pregnant, they worry about the next generation. This reminds me of the couple in the same case 10 years ago. Will the misfortunes of this generation continue to the next generation? When capabilities and technology are within our reach, should we do more? For the future of the children, and to change the fate of the family.
PGD can avoid transferring the carrier embryo
After explanation and discussion, Ms. W and her husband understood that what they need is not only basic fertility examination or in vitro fertilization treatment, but also more accurate "Preimplantation Genetic Diagnosis (PGD)" to eliminate genetic abnormalities. The wild type embryos are implanted into the mother to avoid genetic defects. When the genetic condition of this generation cannot be changed, we must accept it calmly and prevent rapid deterioration. Some patients even don’t know how to face the blood test results of cerebellar atrophy. They are afraid that they will be unable to face the changes in their lives. Rather than bury your head in the sand , it is better to take action. At least, we can ensure the health of the next generation.
Single-gene genetic diseases are no longer a lingering curse. Thanks to advanced medicine, it is now possible to use blood tests for "multi-disease carrier screening" before pregnancy. If the carrier causes serious diseases in the next generation, preimplantation genetic diagnosis (PGD) can be further performed to avoid implant carrier embryos? Currently, such as thalassemia, ankylosing spondylitis, cerebellar atrophy, hemophilia, spinal muscular atrophy, and hereditary hearing impairment, etc. are common genetic diseases that can be detected by PGD.
The continuous advancement of science and technology is to bring happiness to humans. Precision fertility medicine fulfills the dreams of bringing a healthy baby home. In this era, we should not rely on luck and gambling. A few years ago, patients with single-gene hereditary diseases could only diagnose the disease through invasive prenatal examinations in early pregnancy. However, they still could not avoid the pain of induction. Now, several years later, we have many powerful tools of precision medicine, so why not use them properly - Be the life changer in the beginning for your child and yourself.