When I gave birth to my first child, Evan, in August of 1994, my husband Jeff and I were elated. After nine long months of anticipation, we were finally blessed with a beautiful baby. We joyfully watched Evan grow and develop normally for the next six months; he was such a happy baby, always smiling and laughing. We had the typical hopes and dreams any parent has for Evan’s future.

Over the next few months, we started to become concerned, as we realized that Evan was not developing at the same pace as other children his age. Jeff and I tried hard to fight the tendency to compare Evan to other children his age, but by 10 months it was apparent that there was something serious going on. We took Evan to the pediatrician for a well visit and shared our concerns with her. She too was concerned with the lack of his development and recommended that we see a pediatric neurologist, which we did immediately. The next three months were spent going from doctor to doctor and hospital to hospital where Evan underwent numerous, uncomfortable, and often painful tests. By this time, he was beginning to progressively worsen; we were trying to comprehend what could possibly be going on.

At thirteen months we still had no diagnosis and he was continuing to lose whatever few milestones he had reached. We went to see a pediatric ophthalmologist.  Midway through the exam, the doctor discovered a “cherry-red” spot on Evan’s retina. The doctor told us that this was an almost certain indicator that Evan had Tay-Sachs disease. Hearing this news was beyond devastating; it was like having a dagger stabbed through my heart. After meeting with Evan’s neurologist and another round of tests, Evan’s diagnosis was confirmed.
Jeff and I quickly learned what a devastating disease Tay-Sachs is. We discovered that Evan would have seizures, lose the ability to move, lose his vision and hearing, and likely not live to reach his fifth birthday. Jeff and I decided to care for Evan at home so that we could spend as much time with him as possible. We did not want to 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 suddenly had to forget about the hopes and dreams we had of watching Evan grow up happy and healthy and now deal with the fact that we would lose him within a few years.”

Evan lost his battle with Tay-Sachs when he was almost 4 ½ years old. There is no way to prepare yourself for the death of a child and not a day goes by where I do not think about him or how our life would be if he were still alive.
To honor Evan, I decided to turn our tragedy into something positive so that other families would be spared the suffering that we experienced. Having a child with a rare disease made me realize the importance of raising awareness about Tay-Sachs disease. I have also become very involved in educating medical providers and prospective parents about the importance of expanded carrier screening, especially when performed pre-conceptionally. If a couple knows their carrier status prior to pregnancy, they have ample time to seek genetic counseling, gain information about the condition(s) they carry and make family planning decisions that will best suit them. For Jeff and I, we knew that we wanted to have more children. We now have three beautiful and healthy children who fill our lives with joy and give us the strength to carry on. Evan will always remain an important part of lives.

If you’re pregnant or considering growing your family, carrier screening is an important tool that can inform your provider’s care and your family planning decisions.

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ABOUT THE AUTHOR: Shari Ungerleider is the Project Coordinator for the Jewish Genetic Disease Consortium (JGDC). With her husband Jeff and father Stanley Michelman, Shari founded the Evan Lee Ungerleider Foundation when Evan, her first child, was diagnosed with Tay-Sachs disease in 1994. This Foundation is part of the National Tay-Sachs & Allied Diseases Association (NTSAD) where Shari been a board member for over 20 years.