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Genetic screening can prevent heartache

BY SHARI UNGERLEIDER
When I gave birth to my first Tay-Sachs Awareness Month
child, Evan, in August of 1994, In 2008, the U.S. Senate named September National Tay-
my husband, Jeff, and I were Sachs Awareness Month.
so happy that after nine long One in 30 Ashkenazi Jews are carriers of Tay-Sachs, and
months of anticipation, we one in 300 people of the general population are carriers.
were blessed with a beautiful While there is no cure for Tay-Sachs, genetic testing can
and healthy baby. determine who is a carrier and whether their child will be
We joyfully watched Evan at risk for this and other diseases. Since the 1970s, the inci-
develop normally for the next dence of babies born with Tay-Sachs has fallen more than
six months and had the normal 90% among Jews because of increased screening in the
hopes and dreams for his future. Jewish community. One in three Jews is a carrier for one of Evan Ungerleider
Over the next few months, we the many Jewish genetic diseases. mendous loss we feel every day
started to become concerned as JScreen is a nonprofit, community-based public health ini- for Evan. I constantly imagine
we realized that Evan was not tiative headquartered at Emory University School of Med- what it would be like for us as a
developing at the same pace as icine and dedicated to preventing Jewish genetic diseases. family if Evan were still alive.
other children. We witnessed The JScreen “spit kit” is easily ordered online, used at To honor Evan, I decided to
our friends’ children begin to home and then mailed in so that clinical geneticists can test turn our tragedy into something
roll over, sit up, crawl, stand, the DNA. The reproductive carrier screening panel tests for positive so that other families
walk, talk and interact with each more than 200 genetic diseases and includes those that are would be spared the suffering
other. Evan was not able to do commonly found in the Jewish population and other popu- that we experienced by raising
any of this; he just watched and lations. If a person’s or couple’s risk is elevated, a certified awareness about the impor-
smiled, but soon his smile began genetic counselor will privately address their results, op- tance of carrier screening. It
to lessen and his observing be- tions and resources. is essential that everyone who
came a distant stare. Learn more and order a spit test at jscreen.org. is planning to start or add to
Evan was not able to sit up by their family seek preconception
himself without falling over. carrier screening along with ge-

He was having difficulty eating. sel individuals/couples. and zoo. He was constantly sur- netic counseling to determine
At 10 months, we brought As Evan’s disease quickly rounded by people who loved if they are at risk of having a
Evan to the pediatrician for progressed, he was unable him. Evan lost his battle with child with any of these horrific
what we thought was a standard to move on his own, he suf- Tay-Sachs when he was almost diseases. The purpose of carrier
well visit, but this turned out to fered multiple seizures daily 4½ years old. screening coupled with genetic
be the beginning of our night- and had respiratory difficulty, We have three other healthy counseling is to identify carri-
mare. After several months, which required us to suction children. With each of my other er couples, preferably before
visits to numerous doctors and him regularly. He eventually pregnancies, I updated my car- pregnancy, and help them un-
endless tests, Evan was diag- became blind and deaf. We had rier screening for diseases that derstand the impact of the dis-
nosed with Tay-Sachs disease. a feeding tube surgically insert- were added to the panel. Know- ease they carry on an affected
This news not only devastated ed so that Evan would be able ing that Jeff and I were both child and to present reproduc-
us, it shocked us, since I was to stay properly nourished and carriers for Tay-Sachs disease, tive options to the couple.
tested for Tay-Sachs and told I medicated. He had to undergo we were able to make family
was not a carrier. I immediately several hours a week of physi- planning choices that enabled Shari Ungerleider is an out-
contacted my OB/GYN, who cal therapy so that his muscles us to have healthy children. We reach coordinator for JScreen.
upon re-examining my records would not atrophy. chose to get pregnant naturally Shari, her husband, Jeff, and
discovered that I had actually We wanted to care for Evan at and have a CVS test performed father, Stanley Michelman,
tested positive as a Tay-Sachs home so that we could spend as at 10 weeks. From the bottom founded the Evan Lee Unger-
carrier. Having my test misread much time with him as possible of my heart, I believe that every leider Foundation, part of the
inspired me to promote appro- and not take a moment of his couple should be able to make National Tay-Sachs and Allied
priate genetic testing coupled life for granted. We wanted to educated decisions based on Diseases Association. Shari
with genetic counseling. All create a lifetime of memories accurate genetic information. has four children, Evan (men-
genetic tests should be read by a with Evan in the short time he We are so blessed to have our tioned above), Justin, Leigh
genetic counselor who is trained had left. We spent our days tak- other children; however, it does and Sydney. She lives in Wayne,
to interpret the results and coun- ing him to the park, pool, beach not take away or replace the tre- N.J., with her family.

HOLIDAY RESOURCES

Holiday Sensitivity Calendar (print and share this calendar of Jewish
holidays with your employer, friends and teachers):
cdn.fedweb.org/fed-29/2/JFGP%2520Holiday%2520Calendar.pdf
Resources to help you observe this year’s High Holidays:
jewishportland.org/highholidayhappenings
High Holiday services and events: jewishportland.org/highholidays/

Jewish Review Sept. 7, 2022 3