Carrying mutated genes still gives birth to healthy children thanks to IVF

USA - Overcoming the pain of losing their first son to progressive Alpers' palsy, Anna and her husband turned to IVF and genetic testing to have a healthy second child.

Anna and her husband met in 2014 and married in June 2019. She soon became pregnant with their first son, Wyatt. Wyatt was a lively, adorable boy and had all the normal developmental milestones of any child. However, everything changed on the night of February 19, 2021, when Anna and her husband discovered that Wyatt was having seizures. After 15 hours of emergency care, the boy's condition worsened and he fell into a coma, threatening his life.

At the time, doctors had not yet determined the exact cause of the illness. Three weeks later, the seizures were under control. After extensive genetic testing, Anna learned that Wyatt had Alpers disease. Alpers syndrome, or progressive infantile paralysis, is caused by a mutation in the POLG gene, a protein-coding gene. This rare disease occurs in about 1 in 100,000 people.

Everything seemed to collapse before Anna's eyes when the doctor informed her that Wyatt, who had been showing severe symptoms since he was only 7 months old, had only a few months to live. But instead of wallowing in grief, Anna and her husband decided to spend the best and happiest time with their son, including his first birthday party in June 2021.

Baby Wyatt was born healthy and adorable but with Alpers syndrome, a rare genetic disease. Photo: Illume Fertility — Baby Wyatt was born healthy and adorable but with Alpers syndrome, a rare genetic disease. Photo: *Illume Fertility*

Anna said that when she first learned about Wyatt's genetic disorder, she realized that the disease could occur at any time if they conceived naturally. Therefore, in May 2021, she and her husband decided to go to the maternity hospital to consult about in vitro fertilization (IVF) and perform PGT-M, a test to identify abnormalities and single-gene mutations related to some genetic syndromes.

Experts said that both Anna and her husband carried a mutated gene called POLG. Two copies of the gene (one from her husband and one from her) were passed on to Wyatt, causing Alzheimer’s but not affecting the couple. They were also offered extensive genetic testing through a simple blood test to make sure there was nothing else going on genetically that could be passed on to future children. Thankfully, the results were good.

During fertility treatment, in July 2021, Wyatt was hospitalized for acute liver failure, a serious symptom of Alpers disease, and the prognosis this time was worse than what they had received in March. Two months later, Wyatt passed away, leaving his parents and loved ones in pain.

After taking care of their son’s funeral, Anna and her husband decided to return to the hospital for fertility treatment in the hope that their future children would not suffer from the same terrible disease as Wyatt. Dr. Jamie Speer, who was directly treating them, said they could perform IVF normally, but before transferring the embryos, doctors would need to check to make sure the embryos did not have two copies of the mutated POLG gene.

Baby Reagan was born via IVF and does not carry the POLG gene. Photo: Illume Fertility — Baby Reagan was born via IVF and does not carry the mutated POLG gene. Photo: *Illume Fertility*

After about 10 weeks, the couple officially entered their first IVF cycle. Anna described the mental pain as far outweighing the physical pain caused by the needles and procedures.

"We were afraid that something would go wrong, like Wyatt. I felt guilty that we had to continue living a life that my son had rejected. It wasn't fair to him. He should be here to meet his future siblings," she confided. But then, Anna tried to think positively during treatment and accept a future without Wyatt.

After about eight weeks of egg retrieval and embryo testing, they were left with one perfect, germ-free embryo, meaning it had two normal copies of the POLG gene and no Alpers disease. A week after the embryo transfer, she got a call saying she was pregnant. She gave birth to a beautiful, healthy daughter, Reagan, in December 2022.

During her fertility treatment, Anna learned a lot, including how to be strong enough to overcome physical and mental difficulties, how to balance her relationship with her husband and the life around her. She advises everyone to worry less, smile and love more, and do everything they can to enjoy all the good things life has to offer.

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