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 he was to have 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, without performing a blood test the emergency room physician told us that this could sometimes happen, that our baby was fine and we could go home. We were confused and concerned to say the least. At a follow-up appointment with our 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 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 from the state laboratory telling us that our son’s State Newborn Screen had come back irregular and we were to rush him back to the ER. This time when we entered the same pediatric ER we had visited at 4 am that morning, a very different scene met our eyes. It was a scene out of movie; a team of doctors and nurses were waiting for us, and everything we had been trying to express over the past 12 hours was now golden. Every piece of information mattered. They hooked our tiny Eli up with IV’s and blood and transported us with lights and sirens in a mobile ICU to the closest metabolic center for the state, the Shands University of Florida children’s hospital, two hours away in Gainesville.
It was there, in the P-ICU, that our precious Eli was diagnosed with MSUD.
Unbeknown to us, he was so sick that within only a matter of hours 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 received them on day 7 or been living down south where we had moved from the year before, the extra night for shipping would have God forbid changed the ending of our miraculous story to an unimaginable one.
Life for Eli will never be the same as it is for a regular kid. Although he is thank God developing and growing normally, every day is a challenge and a journey. Today, at 26 months old he has endured 6 lengthy hospital stays, been in metabolic crisis twice and now has a gastric feeding 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 with a potential for severe brain damage. We hope and pray that God 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 God.
We have since learned that many weren’t as blessed and as fortunate as we thank God 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 our country of birth, South Africa. It was thanks to that test that our Eli was saved.
However, this is something we should have known about even before Eli was born. Like all religious Ashkenazic Jews, we underwent a genetic screening test called Dor Yeshorim before marriage and were told that we were genetically compatible. Little did we know that we were both carriers for an extremely rare, but already known, disease that was not yet included in this panel. We have since started an organization, Jnetic - to create awareness and education on the importance of comprehensive testing for Jewish genetic diseases.
We encourage the following for our community and others:
- All known life-threatening diseases and mutations should be tested for. This includes Tay Sachs, ML4, cyctic fibrosis, glycogen storage disease, and 35 additional diseases.
- As with any other personal medical information, results should be available and explained by a genetic counselor upon request by the patient.
- The stigma and fear factor associated with carrier status should be broken. The answer to this is: Education, education, education. There is no shame in being a carrier; every person in the world is a carrier for at least 5 different mutations.
- When both parties are carriers, there are ways to have healthy children to the best of science’s ability.
- MOST importantly: We all have the right and obligation to be informed and educated.