From Shwachman-Diamond Syndrome newsletter

By Debbie Kadel

My name is Debbie Kadel. I live in Colorado with my husband, Chris, and our three children. Christopher 8, Brittany 6 our SDS child, and Hannah is 3. Our story starts out similar to most of yours but I would like to share it and hope you might benefit from it in some way.

Brittany was born six weeks prematurely and only weighed 4 pounds, 2 ounces. Her sugar crashed initially and they had trouble starting an IV. She was transported to a bigger hospital in our town to their NICU. She did pretty well but then caught Rotavirus in the nursery which set her back. She was thrombocytopenic at first but her platelets came up on their own without transfusion. She had several complications in the NICU, which included reflux, and she was always a poor feeder. She came home at day 32. She was pretty healthy but did not gain weight well. We had a home health nurse that was doing weekly weight checks and she only gained about 2 ounces a week. Sometimes she only gained 1 ounce and there were times she stayed even, but she didn't lose. I had a two-year-old, and this weight gain didn't seem normal to me. We saw our first GI when she was probably 4 months old. He thought it was probably a milk allergy. She was having 10 - 12 loose stools a day. She was on a preemie formula so it should have been easier for her to assimilate but she didn't. We did a flexible sigmoidoscopy but the milk allergy did not appear. She was placed on a very expensive elemental formula. She initially did gain but not a lot and then she leveled off. We started tube feeding her at night only on a pump through a NG tube to see if this additional supplementation would help her. She caught RSV when she was nine months old and we increased her feeds to 24 hours a day to try to help her get over the illness. When she was 9 1/2 months old she had a g button placed in her stomach. She also had a liver/muscle biopsy done to check for mitochondrial disorders. She had blood sent to all the major hospitals around the US looking for metabolic disorders. After all the test results were in, the GI docs we had been seeing still had no diagnosis and just wanted to continue to watch her for a couple of months. We had waited long enough and found another GI at another hospital in the same city. He saw Brittany one time and along with her medical records diagnosed her with SDS. She was eleven months old.

When Brittany's blood problems started she was anemic first. Her MCV was also high. It wasn't until we started to do serial blood draws that we found that she also had cyclic neutropenia. She was a pretty healthy infant. Even when she caught RSV she didn't require hospitalization. The only thing she did have was an ear infection almost every month or every other. She had her first BMA/B in November of 1997. Her bone marrow biopsy didn't look too bad. She was slightly hypocellular but all of the cytogenetics were normal. Her platelets were also affected at this point. At first they were around 70,000 to 80,000. They did several tests to try to figure out what was happening to her platelets. They found that they had an antibody attached to them. They thought that maybe her spleen was taking them out because of this. They tried to give her IVIG to see if they would come up but they did not. At this point all three cells lines were affected. They tried several therapies to see if her cell lines could recover on their own but they didn't respond. In March of 1998 Brittany started to throw up and blood was present in her bowel movements. She was admitted to the hospital for the first time (besides for observation when receiving IVIG) for a GI bleed. We then took her to Denver where her specialists were and they did a bilateral BMA/B. She had less than 15% cellularity and was diagnosed with Severe A Plastic Anemia. She needed a bone marrow transplant. We were fortunate in the respect that we had one other child and he was a perfect match. She turned 2 on May 16 and her transplant was scheduled for May 28. She had complications with the fluid challenge in the first 24 hours and went into congestive heart failure. The transplant was postponed and she was put on a couple of different heart medications to strengthen her heart. The transplant took place on July 1, 1998.

We just celebrated her 4 year post transplant birthday. What does that mean for her and her future? At one point in time, I thought IF she could survive the transplant we were home free and she would be cured. Her blood problems were definitely cured. She was recently written up in a bone marrow transplant medical journal this year. I am so thankful that her doctors took the time to write about her medical case. The title of the article is "Successful allogeneic hematopoietic stem cell transplantation (HCST) for Shwachman-Diamond Syndrome." If you would like a copy of this article for your records or to show your physicians you can email This email address is being protected from spambots. You need JavaScript enabled to view it. to receive a copy. The fact still remains, however, that she has Shwachman-Diamond Syndrome and the rest of her body is still affected. Brittany is currently 100% tube fed. She is 34""tall and weighs 24 1/4 pounds at six years old. Brittany has pretty significant orthopedic involvement including all growth plates and even more involvement in the hip area. She has had 5 surgeries on one hip and we are watching the other. I am not sure what the future holds regarding future surgeries and as it stands now we take them one day at a time. I often wish I had a crystal ball to be able to see what the future holds for my child, but for now I am content with the fact that she is still here teaching me daily what is important in life. My best wishes go out to each and every one of you and your families!

Love and prayers,

Debbie Kadel