This is Luke. Luke is now 23 months old and he has Shwachman-Diamond Syndrome. It was a very long road to diagnosis for us. Everything seemed to be just fine when he came into the world on June 2, 2005 weighing in at 7 pounds even. Life was just perfect with this little angel. Then, when he was 8 weeks old, he started getting strange rashes and, not long after that, he stopped gaining weight. Doctors were at a loss to explain this. At first they thought it was a feeding problem, so we went from nursing to bottle feeding. At four months he still was not gaining weight and he had developed reflux and frequent, greasy, foul-smelling stools. He became so ill we had to be put in the hospital for four days. While in the hospital the doctors discovered that his liver and pancreatic enzyme levels were off and they thought that he might have developed an allergy to cows milk and soy milk. As a result, Luke was put on the “BMW” of baby formulas and all of the testing began.
The first thought the doctors had was that everything was just allergy related, but after a month on Neocate (a special formula for milk and soy allergies) there was not much improvement in Luke’s blood work, digestive issues, or skin problems. They decided to do a scope, colonoscopy, and PH probe to see what was going on inside the little guy. It was one of the worst moments in my life when I handed him over to be put to sleep for the procedures. The absolute worst moment came soon after when, after the procedures were over, the doctor took us into a little room, sat us down, and told us that he thought our child had Cystic Fibrosis. It took every ounce of will-power for me not to break down into a little puddle in that small, window-less room. We started with the usual round of CF tests. The sweat test came back negative, but because Luke was so young, the test could have given a false negative, so we went back for a gene test. It came back negative as well. The doctors did not have a clue what was wrong with him.
When he was 10 months old, Luke developed petechaie all over his body. A trip to the doctor revealed that his platelet counts had drastically dropped and soon after that he became neutropenic. With the combination of the blood and digestive problems the doctors started thinking Shwachman-Diamond Syndrome. Many people told us how sorry they were that our son had a syndrome, but I was relieved. I finally was getting close to an answer to the great mystery, and now I could start treating my son and get him on the road to good health. A fecal fat test confirmed the lack of digestive enzymes and the gene test for Shwachman-Diamond came back positive. On a funny note, Luke apparently inherited the exact same mutation from both my husband and me. The doctors called us to ask us if there is any way we are related (we are NOT by the way.)
We started Luke on artificial enzymes and replacement vitamins and we soon had a different boy on our hands. I never thought I would be so excited at the sight of a firm, poopy diaper! We rejoiced over every ounce gained, and started looking to the future with hope. It is not going to be an easy road. He has some developmental delays, his liver enzymes are still elevated, and he will have to have a yearly bone marrow biopsy. Despite all of that, life is wonderful and I feel that God has truly blessed us with this sweet little boy.
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