When Sophia and Ross Zilber were engaged, the couple attended a wedding where they met a little girl named Miriam. They were taken with her and loved her name. They decided that if they ever had a daughter, they would call her Miriam.

The couple had three sons, but still hoped to have a girl one day. Ross’s brother also had three boys and the couple figured there would never be a girl in the family. But when Sophia became pregnant with their fourth child in 2016, she learned she was having a girl. She and her husband couldn’t have been happier. And they knew what they would call her.

The pregnancy went well. There were no complications. The ultrasound was perfect. Sophia gave birth to a healthy baby girl on February 28, 2017. They named her Miriam.

As Sophia told her story, I couldn’t help but to think back to the births of my own children, remember the emotion of those experiences, and the instant and intense connection I felt to them. Holding them for the first time, tightly wrapped, they were balls of potential. I wondered about the people they would grow to become one day.

Sophia had problems getting Miriam to breastfeed in the hospital. She expressed her concerns about going home with Miriam because she wasn’t eating. A nurse assured her that she would figure out breastfeeding and soon get the hang of it. Sophia was an experienced mom, but she was exhausted and confused, and didn’t push back.

Once home, Sophia continued to struggle with feeding Miriam. She wouldn’t breastfeed. Sophia tried a bottle, but that didn’t work either. Miriam wasn’t gaining weight. One Friday she showed her pediatrician the trouble she was having feeding Miriam with a bottle. It would take her an hour to get the baby to consume two ounces of formula. Sophia was nervous and wondered if she should take Miriam to the hospital. The doctor told her not to worry and to just continue feeding her.

That Sunday, Sophia noticed Miriam’s hand appeared puffy. It looked as if there was fluid inside. She didn’t know if it was serious, but she knew something didn’t seem right. She called the doctor who was on duty that day, asked her in-laws to stay with her boys, and went with her husband to the doctor’s office.

As soon as the doctor saw Miriam, she told the Zilbers that she wanted them to go to the hospital. Sophia was hesitant. She explained they were concerned about sitting around the emergency room waiting to be seen. The doctor interrupted. Sophia didn’t understand. The doctor was calling 911. They started to cry.

Miriam’s body temperature was below 90 degrees, her heart rate was low and irregular, and her hand was shaking as if she was having a seizure. At the hospital, doctors placed a breathing tube into Miriam.

The doctors explained that Miriam most likely had an infection and began administering antibiotics to her. Sophia thought that if she hadn’t noticed the swelling in Miriam’s hand, they might have lost her daughter that day.

The doctors tested Miriam for a variety of infections, but the results kept coming back negative. At 4 a.m., Sophia asked a nurse if they still thought it was an infection. The nurse explained that the longer the results took, the less likely it was that an infection was the problem. The next day a doctor said they suspected it might be a metabolic disorder.

When doctors got an MRI, they saw lesions on Miriam’s brain. Half of her brain was covered with white spots and the other half had early formation of lesions. After further testing, what was afflicting Miriam was given a name. She had Leigh syndrome.

The neurologist explained that Leigh syndrome is a progressive neurological disorder. The neurologist explained that there was no treatment or cure. Miriam would have a short life. Even if she survived this first crisis, another crisis would follow. She would never walk or talk, and she would be severely disabled and would not survive childhood.

Sophia was scared. She didn’t know whether it would be worse if Miriam died, or be so disabled that she would never walk or talk and grow progressively worse. They were both horrible scenarios. Ross just wanted Miriam to wake up. He didn’t care how disabled she’d be. He just wanted some hope she would live.

Sophia cried. Ross sat speechless. The disease soon spread to her whole brain. Miriam was soon on life support. It was clear that she would never come off life support and would never wake up. They were religious Jews. They reached out to their rabbi for guidance.

He told them since she was on life support, it would be against Jewish law to remove her from it.  He recommended signing orders not to take extraordinary measures to resuscitate her if her heart were to stop or she ceased breathing. He told them they shouldn’t prolong Miriam’s life, but they shouldn’t shorten it either.

There was some tension between the doctors and the rabbi. The medical staff wasn’t sure why the rabbi recommended this. They suggested that he didn’t understand Miriam’s actual condition. Sophia and Ross asked the doctors to include him in the discussions with the family.

“The decisions were not so much medical, but spiritual and personal,” said Sophia. “Medically we knew she wasn’t going to survive.”

Family and friends visited the hospital to see Miriam. On April 23, 2017, one month after being admitted to the hospital, Miriam died.

When Sophia first heard Miriam’s diagnosis, she thought God must have been punishing her for something she had done.

“We don’t know why God did this. I still believe in God. If this is something that happened to us, I want to believe there is a reason. I don’t want to believe this is a random event,” she said. “For some reason I was meant to be in this situation. I don’t know if I will ever find out why.”

Sophia, who performs data analysis for a pharmaceutical company, now volunteers to use her expertise on projects for the United Mitochondrial Disease Foundation. She also raises money for research, participates in mitochondrial disease awareness efforts, and lobbies in support of federal research funding.

Rare Disease Day, February 28, though, is sad day for Sophia. It falls on Miriam’s birthday. “We were supposed to have a child,” she said, “and we don’t.”

On Rare Disease Day advocates around the world will raise awareness about rare disease, the impact on patients’ lives, and the need for investment into research. It’s become a day of pride, celebration, and unity. This year, though, I’ll be thinking about Miriam, the children we’ll never get to know, and the unrealized potential that is lost.

February 6, 2019
Photo: Miriam Zilber

If you’d like to contact Sophia Zilber, you can email her at sophiazilber@gmail.com