When the Tay-Sachs Test Results Were Wrong

Shari Ungerleider was devastated and utterly shocked when she found out that her child had Tay-Sachs disease. She had been genetically tested for this disease, and the doctor had confirmed that she was not a carrier. The doctor’s mistake led Shari to a harrowing journey that has not only shaped her life, but the lives of thousands of others. Shari never wants anyone to experience what she endured. She has dedicated her life to preventing this from happening again to anyone.

Shari met Jeff through her college roommate. They dated for five months, and then were engaged for six.

Shari explained, “My mother was sick with Pancreatic cancer. We wanted to get married while she was still alive. We had a date set for October of 1993, but in the beginning of September, the doctors informed us that if we wanted my mother to see the wedding, we would have to marry in the next day or two.”

Shari and Jeff were married a day and a half later at Mt. Sinai hospital in New York City. Shari was 23 years old.

Shari was told that she likely had endometriosis, a condition where cells grow outside the walls of the uterus. Since it is often painful and can affect fertility, Shari assumed she would have issues with conceiving. But despite her condition, Shari became pregnant just one month after her wedding day.

“I got pregnant really soon after the wedding. It was such a pleasant surprise and we were anticipating the baby’s arrival with so much joy.”

When Shari went to the OBGYN, her doctor asked if she had ever been tested for Tay-Sachs, a rare inherited lysosomal storage disease that results in the destruction of nerve cells in the brain and spinal cord and is most common in Jews of Ashkenazi descent.

Shari noted, “This was back in 1994. We lived in Wayne, New Jersey and things were so different then. At that time people were not testing for panels when they were dating. After we were already married, my mother-in-law casually suggested that we test for Tay-Sachs because that was the only disease she had heard of.”

Shari and Evan

Shari tested and was relieved that she wasn’t a carrier. Because of the results, Shari’s husband did not test.

After a typical pregnancy and an easy birth, Shari and Jeff were enjoying their newfound parenting roles as their son, Evan, developed normally for the first six months of his life.

Missing Milestones: A Cause for Concern

“After about six months, we started to notice that he was not reaching milestones anymore. I was one of the first of my friends to get married, and most of our friends did not have kids at this point so we didn’t have a benchmark to compare his milestones.”

Shari was in various gymboree classes where she noticed that Evan wasn’t developing at the same pace as other children his age. He was initially able to watch and smile, but soon his smiles began to lessen, and his observing became a distant stare. Evan wasn’t even able to sit up by himself without falling over. He was also struggling to eat.

When Shari and her husband took Evan for his ten-month check-up, their pediatrician expressed concern with the lack of his development in almost all areas. He recommended that they see a pediatric neurologist.

That moment marked the beginning of their nightmare.

The neurologist performed a battery of tests, but the MRI, EEG, and bloodwork all came back normal.

Mystified, they went for a second opinion. They chose a pediatric neurologist from Columbia University. This doctor knew that something neurodegenerative was happening to Evan but he could not make a diagnosis.

They initially ruled out Tay-Sachs since Shari was not a carrier. For the next three months, Evan underwent a series of tests and was developing more symptoms in the interim.

The Shocking Diagnosis

The next three months had Jeff and Shari on a wild chase of several appointments with every type of doctor imaginable, trying to uncover the mystery of what was happening to their son. Shari and Jeff even made an appointment to see a pediatric ophthalmologist to see if his vision was to blame.

Shari explained, “It happened to be the only appointment that I went to by myself. My father and my husband came to every other appointment. I didn’t think that they needed to take off work to see an eye doctor.”

As the doctor was performing the exam he muttered under his breath, “I found a cherry red spot.”

Shari’s heart fell. “I had done a ton of online research and I knew that a cherry red spot was an indication of Tay-Sachs.”

Oh my God, she thought to herself, it can’t be. I was tested for Tay-Sachs!

Shari immediately called the neurologist from the ophthalmologist’s office lobby.

The neurologist said, “I think we found the piece to the puzzle we’ve been searching for. We need to do a confirmatory test, but I think he has Tay-Sachs.”

At home, Shari and her husband called her OBGYN, demanding answers. “How is this possible?” they asked.

The doctor reviewed the testing and called them back immediately. “I’m sorry. I misread your test. You are, in fact, a carrier.”

Shari was devastated. She replayed the events in her mind and kept thinking, How could this have happened?

“I thought I was being responsible. I trusted the doctor to order the right test and interpret it the right way, but he failed me. A series of errors occurred as my results were transferred from one lab to another and then on to my doctor. This created the perfect storm and resulted in me not knowing that I was a Tay-Sachs carrier.”

No Cure and Sage Advice

Shari was living a real-life nightmare. She knew that Tay-Sachs was a terminal illness. She wanted to do everything in her power to save her baby but she knew there was no cure and that nothing could actually be done.

Despite her despair, she contacted NTSAD, the National Tay-Sachs and the Allied Diseases Association. Shari and Jeff also got in touch with Dr. Michael Kaback, a leading scientist and Tay-Sachs researcher who developed the “enzyme assay,” the initial method of screening for Tay-Sachs.

“Do not waste the time you have left with Evan looking for something that does not exist. Just love him and cherish him and build memories in the time that you do have with him.”

Dr. Kaback advised the couple, “Do not waste the time you have left with Evan looking for something that does not exist. Just love him and cherish him and build memories in the time that you do have with him.”

Shari could barely handle the pain of his words but later admitted it was the best piece of advice anyone could have shared. “We followed his guidance. We got the care that Evan needed but we did not tirelessly travel the world trying to find a cure that did not exist.”

Shari and Jeff did their best to create joyful memories with Evan but as his disease progressed, so did his symptoms. They went to great lengths to combat those symptoms. Because Evan had trouble swallowing, they had a feeding tube inserted so he could have proper nourishment.

The neurologist suggested they consider performing a Fundoplication, a surgery that would wrap the stomach around the intestines to prevent aspiration as the disease progressed. Shari and Jeff readily agreed.

After that point, most of Evan’s care took place at home in order to maximize their time with him. As his illness progressed, Evan began to experience many seizures a day.

“On a good day, he had a dozen seizures. On a bad day, it was a lot more. We had a hard time finding the right medication to help control it.”

Evan had an amazing team of physical and occupational therapists to help manage his care and prevent muscle atrophy. Eventually, Evan became blind and deaf, which meant his other senses got stronger. Each family member chose a different perfume to wear so that Evan could identify everyone by their scent.

Joyful Memories

Shari and Jeff enjoyed many beautiful memories with their son.

“We wanted to care for Evan at home so that we could spend as much time with him as possible and not take a moment of his life for granted. We wanted to create a lifetime of memories with Evan in the short time he had left. We spent our days taking him to the park, pool, beach and zoo. He was constantly surrounded by people who loved him. Evan lost his battle with Tay-Sachs when he was almost 4 and a half years old. We wanted to focus the time he was alive on creating beautiful memories, and I think we succeeded at doing that.”

Shari Ungerleider

Shari and Jeff wanted to make sure to take family vacations, despite Evan’s illness. “We didn’t want to travel too far or put Evan on an airplane with all his equipment. My second son was born in Evan’s lifetime, so we went as a family to Ocean City, New Jersey where we rented a beautiful house on the beach. We went with my brother-in-law and sister-in-law and it became our special place—not just while Evan was alive—but we now go with both our families every year for a week.”

Moving Forward

Before Evan had a diagnosis and while we were testing him, the neurologist suggested, “You and any relatives should consider not having any more children right now.”

Once they found out it was Tay-Sachs it stirred a deep desire within them to have more children. Shari remembers thinking, we have so much love to give.

Shari chose to get pregnant again naturally and do a CVS (Chorionic Villus Sampling) test at 11 weeks to determine if the fetus was affected with Tay-Sachs disease.

“Pregnancy was so emotional because from the time you find out until you get the results back you are just on edge, holding your breath. I found out that one of my pregnancies was not affected by Tay-Sachs, but I miscarried the next day. It was an emotional rollercoaster.”

Today, Shari has three healthy, grown children, all of whom contribute to the medical field of research and occupational therapy.

Resilience Tips

Evan passed away when their son, Justin, was just two years old.

“It was a really hard time. I was so used to spending my days revolving around Evan’s schedule. I was either giving him medication, scheduling therapy, bathing him, or massaging him. When he died, I felt such a hole. Not only the vast pain of the void but also the feeling of, what now? How do I occupy my days?”

Shari shared how she coped. “In life, you have two choices when faced with something tragic. You either get into your bed, do not get up, and just dwell. Or, you channel that and turn it into something positive that can help others. That’s what I chose to do.”

The way Shari mourned her loss was to actively get involved in outreach in her own way. Shari and her family started a foundation in Evan’s name, which later became a fund that is part of the Tay-Sachs Association. One of the fund’s goals is to raise money to provide free screening for others.

“We created golf outings and made parties at restaurants in the city. We would sell tickets and give out information. We ran free screening programs.”

I recommend that anyone dealing with a personal struggle should try to find ways to turn their tragedy into something to help others.

Shari doubled down on the importance of redirecting her sadness into fuel for positive change. “I recommend that anyone dealing with a personal struggle should try to find ways to turn their tragedy into something to help others.”

Shari volunteered heavily with NTSAD, as a board member for over 20 years and even serving as the president for two years.

Shari’s volunteer work continued to evolve over time, and she began to connect with a multitude of organizations. In 2015, she started working with JGDC, the Jewish Genetic Disease Consortium, along with NTSAD. They all focused on research and family support, but no one was focusing specifically on education.

To change this, Shari began traveling throughout North America, educating the medical and Rabbinic community, as well as people at large.

Jscreen, formed in 2013, is an organization dedicated to help screen for and prevent genetic diseases, particularly those prevalent in the Jewish world. She joined the group four years ago in an official capacity and feels so grateful to be working with an organization who has the same educational goals that she does. “Here I was not only providing information, but now I was giving people resources as well.” JScreen is accessible for everyone in the country.

Turning Pain into Purpose

Shari believes that every couple should be able to make educated decisions for themselves and their family based on accurate genetic information. “We are so blessed to have our other children. However, it does not take away or replace the tremendous loss we feel every day for Evan. I constantly imagine what it would be like for us as a family if Evan were still alive.”

To honor Evan, Shari turned her pain into purpose and had dedicated her life to educating and helping others.

One of the most rewarding moments in Shari’s work happened when a young woman reached out to tell her that she read Shari’s personal story in a parenting magazine. “It enlightened her, and she and her husband got tested. They were both carriers of the same disease. The woman now always claims, ‘Evan saved us, and helped create our beautiful family.’”

Shari is a beacon of inspiration. She experienced the unfathomable, but instead of wallowing in her pain and lying in bed, she chose strength. She chose to do whatever she could to help others. She fundraised for others to have free screenings, donated towards research, and dedicated her life to education. In this way, she is keeping her son’s memory alive each and every day.

Resources:

JScreen: https://www.jscreen.org/
Dor Yeshorim: https://doryeshorim.org/

A version of this article originally appeared in Ami magazine.

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