We were inspired to launch this initiative to raise awareness regarding the systems used in preventative screening for the genetic disorders most prevalent in the Jewish community. This inspiration arose directly from first hand experience with our precious first child who, despite our being screened and declared compatible by Dor Yeshorim, was born with one of these genetic disorders...
We are sharing our story in the hope that it will help foster a healthier, more fruitful community by starting the conversation and sharing information with others. We aim to share the risks involved but more importantly, the many solutions and options that exist in preventing children being born with genetic diseases.
Prior to dating one another, we had our bloods tested by a well known and well respected Jewish organization, called Dor Yeshorim. Dor Yeshorim confirmed that we were, in fact, compatible. Having completed this essential step in the process, we dated and thank G-d got married in June 2012. We were so excited to settle down and start our own family. For over 2 years we waited and prayed for a child and thank G-d after our second anniversary we finally conceived. The joy and excitement was bountiful and overwhelming.
On April 23 2015, 4 Iyar 5776, our precious firstborn son Eliyahu Tuvia was born in Jacksonville, FL. All seemed well and we took our bundle of joy home. At four days old, we took him for his first doctor's visit and he was, thank G-d, gaining weight and doing well. The doctor cleared him for his Brit Milah - circumcision.
You can imagine our concern when over the next few days he stopped eating as well as he had been and we started noticing changes that didn't seem right. It was as if, without us realizing, a dark cloud was slowing closing in.
At 4 am Wednesday morning (the day before his Brit), while feeding him, I looked down and my baby wasn't breathing. I can't begin to describe the intense overpowering feeling of fear. In those few moments I experienced the feeling no parent should ever experience. I shouted for my husband who was up in a moment and told me to lift the baby. As I did so, he projectile vomited out a significant amount of blood. In fear and panic, we called 911 and rushed our 6-day-old baby to the emergency room. To our surprise they told us that this could sometimes happen, that the baby is fine and we could go home. We were confused and concerned to say the least. At a follow-up appointment with the pediatrician later that day we expressed our concern and shared that we had been noticing different things that seemed strange to us. The doctor, without even walking over to look at Eli, kept telling us that our baby was fine. From shear exhaustion and this underlying sixth sense that something was wrong, I broke down crying. I tried to explain that the Eli was fighting not to eat and would cry and cry while doing “swimming motions”. Without hesitation, he responded in no uncertain terms : "Mom if you're not going to be strong you're not going to be any good for your baby." Defeated, scared and confused we went back home.
That day our Eli refused to eat - he just slept. We didn't know it then but he was already drifting into an encephalopathic, comatose state. At 5 pm that afternoon we got an urgent call that our son’s State Newborn Screen (PKU Test) had come back irregular and we were to rush him back to the ER, the same pediatric ER we had visited at 4am. This time, a very different scene met our eyes. It was a scene out of movie, a team of doctors and nurses were waiting for us. Suddenly everything we had been trying to express over the past 12 hours was now golden. Every piece of information mattered. They worked our tiny Eli up with IV's and blood and transported us with lights and sirens in a mobile ICU to the Shands UF children’s hospital two hours away in Gainesville.
It was there, in the P-ICU, that our precious Eli was diagnosed with MSUD - Maple Syrup Urine Disease.
MSUD is an extremely rare genetic disease that causes an inborn error of metabolism. Our Eli cannot break down the Branch Chain Amino Acids, meaning protein is toxic to his system and could G-d forbid, very quickly put him into metabolic crisis, causing coma and death. Unbeknown to us, he was so sick with only a matter of hours before his body would have completely shut down due to overwhelming toxicity. Our Eli's life was spared by mere hours.
It was only months later that we learned how miraculous it was that we received the screening results when we did. All Newborn Screening tests for the entire state of Florida are run in Jacksonville. Most tests take 8-10 days to receive results. We received them on day 6. Had we been living down south where we had moved from the year before, the extra night for shipping would have g-d forbid changed the ending of our miraculous story to an unimaginable one.
Life for Eli will never be the same as a regular kid. Although he is thank G-d developing and growing like a regular child, every day is a challenge and a journey. Today, at 19 months old he has endured 5 lengthy hospital stays, been in metabolic crisis twice and now has a gastric tube (G-Tube) to help maintain his protein levels. He will never be able to eat most foods that other kids and adults enjoy. Any slight illness can cause his body to break down its own protein and cause a metabolic crisis. We hope and pray that G-d will protect our special child and that very soon the cure for MSUD will be found.
Our Eli is a living miracle and a truly incredible little man. He has outshone anything we read in the literature. He is reaching beyond his milestones and we couldn’t be more grateful to G-d. We have since learned that many weren't as blessed and as fortunate as we thank G-d are. MSUD is so rare that often doctors aren't able to diagnose it based on the symptoms shown, and many babies don't survive. If they do, it is often with significant brain damage. We are blessed to live in a country where every child is given the Newborn Screen Test - unlike in our country of birth, South Africa. It was thanks to that test that our Eli was saved.
We hope and pray that G-d will protect our special child and that very soon the cure for MSUD will be found.
The obvious question that arises is, "If we were screened for genetic mutations before we married, how is it that we had a child with one of the known diseases?"
As mentioned, we were tested by Dor Yeshorim. Dor Yeshorim presently offers 2 panels of testing. One is required the other is optional.
- The main panel- required and completed by everyone tests for 10 genetic mutations. These were the first mutations to be discovered as Ashkenazic.
- The secondary panel which is optional, tests for 7 genetic mutations which were discovered after the first panel was released.
Little did we know, that we were both carriers for a extremely rare disease that was not part of the test. MSUD is now tested for on the second "optional" panel, however, most people don't even know that a second panel exists. Even those who do, do not understand the importance or significance of testing for these diseases.
Our mission in creating Jnetic is to:
- Educate the community on the importance of comprehensive genetic testing.
- Work to educate and create awareness about Jewish genetics for the entire Jewish population-Ashkenazi, Sefardi and others.
- Remove the stigma associated with being a genetic carrier.
We believe that through awareness, many precious Jewish lives will, G-d willing, be saved!