Usually, babies are born at around 38 weeks, but in the case of our twins, they were born at 32 weeks and 5 days. Due to being born at a low weight, several of their organs were not functioning properly, and we believe that their premature birth may have contributed to their organs malfunctioning.

There were no significant symptoms at birth. However, the day after birth, we were told that the younger sister, who was underweight, had high ammonia levels and the cause had to be investigated. Treatment to lower ammonia levels was given. The twin sisters have the same genes, so we were told that the same problem could occur in the older sister too. The younger one weighed 1010 g and the older sister weighed 1700 g. Medication was formulated and used at the hospital to lower the ammonia levels, but we don’t have the details of the medication that was used. The younger twin’s ammonia levels remained high.

The older sister started to show symptoms 2-3 days after her younger sister, but her ammonia levels were elevated from the second day of birth. Her symptoms progressed as her liver function declined and toxins accumulated in her body due to her inability to urinate, affecting various organs other than her liver, which was already weak. The doctor repeatedly told us, “If only she could pee, if only she could pee.”

Tests on the twins did not reveal anything and led to nowhere. So, my husband and I got a genetic test which revealed that we were both carriers of citrin deficiency. The doctors had not considered citrin deficiency at all. The genetic test results came out a year after our daughters’ deaths. That is when we finally found out that the cause of death was citrin deficiency. Frankly, with my daughters in danger I was considering my next pregnancy and wanted to take action based on genetic testing for the future. However, I am now unsure whether a prenatal diagnosis is necessary or whether testing after birth would be appropriate.

To be honest, I don’t think birth at 32 weeks is that premature. However, in the younger sister’s case, she was born underweight due to a lack of growth when she was still inside me. I was concerned whether she would be able to breathe through her mouth when she was born prematurely. However, because she had been given steroid injections before birth to strengthen her lung function, they were not as immature as I had feared. Still, of course, she was smaller than children generally born at 32 weeks.

This stunting started early in the pregnancy. The size between the twins was different from ten weeks. I have been told that 20% – 25% weight difference between twins is considered dangerous. In the case of our twins, there was a weight difference of more than 31% at the early check-up. From then on, I had check-ups every week.

Identical twins share a placenta. It was only after birth that we found out that the older sister’s umbilical cord was relatively central and well-supplied with nutrients, whereas the younger sister’s umbilical cord was positioned at the edge and may not have been well-supplied. The thickness of the umbilical cord was also very different between them.

The delayed weight gain and stunted growth may have been due to problems with the position of the umbilical cord rather than from citrin deficiency. The obstetrician explained that there is a greater element of fate than disease with regard to the position of the umbilical cord. They told us that the formation of the placenta is determined from the time of conception, so there is an aspect of fate.

The timing of the loss of pee discharge was approximately the same for both the younger sister and the older sister. The pee discharge decreased from about three to four days after birth and eventually almost ceased; we can say that they had almost no pee discharge for about a week until they passed away.

The initial symptoms and progression were almost the same between them, but the older sister’s progressed more slowly, probably due to the difference in weight. In the case of the younger sister, when urination stopped, her body swelled, and the fluid could not be released out of the body with only the administration of medication continuing. In her older sister’s case, she died the day after her younger sister, but the progression was a little slower. She didn’t urinate as well, but was less swollen than her younger sister, so we thought this could be due to the weight difference.

I’m pregnant now and I’m scared. I’m still anxious, so I’m wondering if I should have a prenatal diagnosis, or if I already know that I’m a carrier, should I have the child tested after birth?