A Life of Hope:
Noah Jerome Shaffer
Noah Jerome Shaffer blessed our lives with his arrival on October 5, 1999. He was a healthy 7 lbs. 91/2 oz. and measured 2l inches long. We were so proud to have created such a beautiful, perfect baby boy. We brought him home from the hospital along with flowers, balloons, a teddy bear from Dad and a lifetime’s worth of hopes and dreams. None of our dreams ever once included out-living our baby or watching him suffer and deteriorate throughout the short 20 months he would spend with us. But, then again, we had never once heard of such a thing as Gaucher disease.
Around four months of age, Noah began developing “peculiar” little health problems. None of them seemed very serious and we were sure that eventually he would outgrow them or we would discover a simple explanation to tie everything together. His eyes began to cross, he had developed a slight cough along with a horse voice and he was not developing at the pace he should be. He had made no attempt to sit or crawl and had trouble holding his head up when on his stomach. He was also experiencing some difficulty swallowing.
During this time, his pediatrician noticed that his spleen seemed to be enlarged. He suggested that is was due to an undetected viral infection of some kind. Well, thank god! There was our answer: the simple explanation that would tie everything together. We came back in two weeks to have him re-checked fully expecting everything to be fine now. However, the doctor noticed that Noah’s spleen was not only still enlarged, but that it was considerably bigger. We were sent for a sonogram of his abdomen, which was either done or interpreted incorrectly, and were told that there was nothing wrong with him. We were then sent for a CT scan of his abdomen. When these results came back, we were told Noah most likely had a tumor in this stomach and were sent off to the oncology unit at the hospital. We spent more than eight hours there that day going through a series of blood tests, x-rays, a bone marrow extraction and another CT scan. We felt like two lost little children ourselves, going from room to room with our baby, meeting other very sick children and wondering why all of this was happening. While we were terrified to be there, we were hopeful that we would come home with some answers and start whatever was necessary to get our baby healthy. But, it wasn’t going to be that easy for us. As soon as we started to accept the fact that Noah might have some kind of cancer, cancer was quickly ruled out. We were sent home after a full day of agonizing tests knowing no more than when we started. Noah did not have a tumor in his stomach, just an enlarged spleen and liver. We were back to square one. I will never, as long as I live, forget the doctor’s parting words: “Noah does not have cancer, which is good, but he could have something just as bad, if not worse.”
While we sat around for the next seven weeks trying to figure out what could possibly be worse than cancer, Noah’s blood work was sent off to Philadelphia for testing. His diagnosis finally came through in July of 2000. Noah had something called Type II, Gaucher disease. He would not live another year and would suffer and deteriorate greatly during that time. We were completely devastated. Our amazing family members searched high and low for answers and possible treatments or cures. Sadly, they all came away empty handed, because no treatment or possible cure was anywhere to be seen. All we had left were prayers. We quickly found out that not only did we have a terminally ill child with a rare disease, but even the experts in the field had little to no knowledge about the disease. We quite literally had our son’s life in our hands with no one to turn to.
There was never any doubt that we would keep Noah at home, in lieu of being hospitalized. Our lives quickly changed and our home eventually came to resemble a hospital. Every few months as his health deteriorated, a new piece of medical equipment was brought in to make him comfortable. We had an IV stand, various IV pumps, syringes, needles, tubes and medicines, a nebulizer and suction machine and finally an oxygen tank. All this for a little boy who should have been outside running around his back yard. But, we made the best of it and cared for out little boy with every ounce of our energy and hearts. Noah never once complained, or did anything but smile and show his love for everyone around him. As long as he had his mommy and daddy, nothing else mattered.
In February of 2001, Noah’s health began to seriously deteriorate. He had lost his ability to swallow and was hospitalized for three weeks in the Intensive Care Unit recovering from asphyxiation pneumonia (from inhaling what he could not swallow) and awaiting surgery for a feeding tube. He came home on March 2nd for good. We left the hospital, buckled Noah into his car seat and he smiled like he had never smiled before. He knew he was going home and he was just the happiest little baby in the world. We were so glad that he didn’t know what we did.
During the end of April and May, Noah began to suffer from seizures and laryngospasms (basically, the larynx shuts, you can’t breathe, turn blue and loose consciousness). His body was also starting to reject (reflux) the Pediasure we fed him through the feeding tube. The seizures would inevitably bring on a laryngospasm. The doctors told us that anti-seizure medication could compromise his already compromised breathing. It was a no win situation. We would feed him less, so he could keep it down and he would become dehydrated. We had to decide between watching him have seizures or watching him struggle to breathe. Having an IV inserted into his tiny vein for continuous hydration or dealing with the feeding tube, and the reflux problem that was coming with it. In short, there were no answers. Every problem we attempted to correct would bring about another problem.
Toward to end of May and into June, Noah’s laryngospasms went from an every-so-often frequency to an everyday occurrence. Our beautiful son was loosing his battle. We knew that soon, he would not recover from one, and that day could be any day. The last month of his life was terrifying. Every day the sun would come up and we would begin to worry about what the day would bring. Would he suffer from reflux from the feeding tube and choke on it, or would he be dehydrated? Would he be shivering cold or burning up with fever? What time would he have his first seizure and stop breathing? Would he die today and if he did, who would be here and who wouldn’t? The only thing we knew for sure that throughout all of this, Noah would be smiling. The saddest fact is that he never knew any different. For him, this was life. For us, it was time to say goodbye. It is one thing to mentally prepare yourself for your child’s death, but your heart and your soul can never be prepared. It is unnatural – every core of your being and instinct is to protect that child. Yet, there was nothing left for us to do but hold him and love him and wait.
Noah grew his little angle wings on June 27th, 2001. He passed away in his mother’s arms, listening to her heartbeat. It was a beautiful, peaceful death, but one that never should have happened so soon. At 20 months old, 4 months shy of his second birthday, Noah passed away weighing 17 pounds and measuring 27 inches. In two years, he had hardly gained 10 pounds, only grown 6 inches and went through more than most people will in their entire lives. That is the nature of Type II Gaucher disease. It is a horribly cruel and ruthless disease, not unlike childhood leukemia, or aids, or cystic fibrosis, or any other disease more widely known. It is a rare disease that is just as bad, if not worse than the more commonly known diseases. In writing this, we and other faeilies who have endured this hardship do not want sympathy or to be put upon a pedestal, or to be alienated. We want a cure for this disease. We want to know that our children who have died will not be forgotten and their deaths are not in vain. Most importantly, having seen first hand the effects of Gaucher disease, we do not want to see anymore families go through this.
We never gave up hope during Noah’s life and now we will never stop hoping for a cure. Noah brought his entire family together and all the senseless frets and worries were left behind. He taught us all that is important in life and how to handle things we had no control over. He showed us strengths we didn’t know we had and brought us closer to wonderful people we might not have ever known. In closing, we want to thank every one of those people. You know who you are, and what you have done for us. Please, continue our fight!
Sue Laratta and Tracy Shaffer
Ithica, New York