Working Through the Maze of Genetic Odds to Protect Their Child From Spinal Muscular Atrophy (SMA)

The following story was told to R29 Fertility Diaries by a 34-year-old mother and her husband.

The newly married couple was anxious to be parents. Even after the loss of their first baby to SMA, they longed to have a family. But was it right to have another child who might also have spinal muscular atrophy (SMA)?

This is a dilemma facing so many parents. The disease may vary, but the end result is the same. A beloved child with a life shortened by a rare disease.

Most parents do not know they are carrying a gene that causes a rare disease until it affects their firstborn. Or sometimes it skips the firstborn and goes on to attack their second child or sometimes two children. It results in seeing their child unable to walk or run or play with other children, feeding their teenage son or daughter, or carrying their teenager up the stairs at bedtime.

Did they have any idea this would happen? Did they just take a chance? Would they take that chance again?

From R29 Fertility Diaries

 The couple had been overjoyed at the birth of their son, their first child. His mother described him as having the most wonderful disposition: seldom crying and not presenting any problems sleeping.

During one of the baby’s doctor’s appointment, their pediatrician felt that there was reason to have a consultation about the baby’s low muscle tone. Test results showed SMA.

The disease is characterized by atrophy (wasting) of skeletal muscles. SMA is caused by the loss of nerve cells (motor neurons) that control muscles. The disease progresses rapidly. The average life span is under two years in the most severe cases. Their baby’s ability to function and breathe would be greatly affected. Although several treatments were in the experimental stage, currently there is no cure.

Their sweet little baby died one day after his first birthday due to a severe cold that he could not fight.

At first, the couple could not cope with their loss. Eventually they decided to look at it as part of being a parent. Parents do not always know what to expect or even what type of a parent they will be. They had to believe that they did everything they could for their child.

They were grateful for many of the available resources, and especially for the Cure SMA research and advocacy organization. They were told of a powerful treatment being developed (Spinraza) that was available under a compassionate use program.

By the time their baby boy was seven months old they were successful in getting him into a program that brought relief and gave him a little more strength. However, he was still relying on a ventilator to support his breathing for at least twelve to eighteen hours every day. They saw progress, but unfortunately not enough to save his life.

A Closer Look at the Risk

With knowledge of their genetic makeup (they are both carriers), the couple knew their risk of having another child with SMA was one in four. It is called autosomal recessive inheritance. The genetic condition is present when one variant resides on both copies (alleles) of a specific gene. This is one way a genetic trait is passed to the child from a parent.

They made a tough decision. They decided to try in vitro fertilization (IVF) with genetic screening. In this way, they could implant an embryo that did not have the genetic predisposition for SMA. They decided that if their second child did have the disease, they would love that child just as they loved their son.

The couple had already started the genetic counseling and education about the IVF program while their son was alive. Their intent was to give him a sibling. When their baby boy died, they realized they still desired to be parents.

The mother-to-be underwent several rounds of egg retrievals. She recalls that she injected herself daily with fertility drugs in her office bathroom. She describes being in a fog at the time, and her only thoughts were about being a mother again.

The two injections brought about eleven embryos. Statistically, they knew one in four would have the genetic condition. But one embryo was completely unaffected.

Some of the embryos were carriers of the disease. This meant that the disease would possibly skip one generation, but if that person had a child, there was a chance that the child would have SMA.

In 2018 the unaffected embryo was transferred, and the birth of their baby girl was successful. When the new baby easily passed her physical milestones, the couple realized the value of the IVF process. They never realized that they would experience such joy at seeing their daughter progress normally.

Courage to Begin Again

Encouraged by their beautiful 18-month-old daughter, the couple wanted to expand their family. They had stored embryos that had been tested positive to SMA yet would not reveal symptoms.

There was, however, a glitch in their planning. Work had required that they move clear across the country, and then COVID broke out.

The problem was resolved when the couple found they would be able to continue the process in a local clinic through remote monitoring. They would fly to their former clinic when the transfer was required. The IVF process involves egg and sperm retrieval, fertilization, and embryo transfer.

Money is Not a Consideration

The couple’s IVF-associated costs were high. At issue was the insurance company’s policy of covering the cost procedures to only remedy infertility. In their case, fertility was not the problem.

The couple noted that the insurance company paid millions for their son’s care. Their argument, which they eventually won, was that the coverage they requested would be far less expensive than treating a second child with SMA.

A New Beginning

This time it took two transfers before she was pregnant with a second son and a brother for their little girl. When their daughter is older, they will tell her that she is healthy because of a brother she will never meet.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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