SDS Family Stories
Makenna was first put on Hematology/ Oncology’s radar at ten weeks old when it was discovered that her hemoglobin levels were critically low. Ten months later, she was tested for SDS and genetically confirmed. Today Makenna is a sweet and spunky toddler who loves to play with her friends, play outside, and talk. Makenna’s proud parents are Derek, an engineer and Tracy, a teacher. They hope to model a spirit of resilience and grit for Makenna so that she grows to know no limits. They enjoy raising money for the Registry because they know it is essential to improving treatments for those affected by SDS; the Registry gives them hope for a cure!
SDS Family Stories
It’s been a journey for the Miller Family to reach SDS diagnoses for three of their four children. The second oldest, Scott, was diagnosed with pancreatic insufficiency at just 18 months. Initially the diagnosis of SDS was not thought likely because he lacked the SDS mutations so Scott continued forward. When he was 5 years old, it was recommended by another SDS family that the Millers connect with an oncology/hematology specialist. At 6 years old Scott received his first bone marrow biopsy and ultimately reached his diagnosis.
At the same time Scott began his time in hematology/oncology, their son Jonathan, 14 months old, also received a bone marrow biopsy. Jonathan experienced frequent infections and ear infections leading up to his time of diagnosis but never really presented as a traditional SDS patient. Although he still lives with some gastrointestinal issues today, he is excelling at his Latin school.
Meagan, diagnosed with IBS at 3 years old, always had immune system struggles growing up. It wasn’t until she enrolled in the SDS Registry, because of her connection to her brothers and their mutations, that they were able to reach her own SDS diagnosis, at 10 years old. Pam Miller, mom, said, “If it wasn’t for the Registry linking people together, we wouldn’t be a part of this and we wouldn’t have a diagnosis.” The Registry has offered a watchful eye on Meagan, which helped to ensure an infection or illness would be caught before it progressed too much and had negative repercussions on her health.
Today, Meagan, Scott and Jonathan are thriving. They attend school and participate in extracurricular activities. The Millers encourage families to join the Registry because it creates an important community and an understanding that SDS may present differently from patient to patient. The Registry is a vital resource to educate and support families, while keeping everyone actively engaged in the SDS journey with the ultimate goal to find a cure.
SDS Registry Activities
Shwachman Diamond Syndrome Registry Meeting, Cincinnati April 2017
The SDS Registry presents on SDS at the American Society of Hematology, December 2016
2016 Camp Sunshine (left to right)
Brian Sheehan, Maggie Malsch, Dr. Akiko Shimamura, Dr. Kasiani Myers, Leann Mount
2014 Camp Sunshine
Dr. Akiko Shimamura and Leann Mount
Dr. Shimamura presents on the SDS Registry at the 2014 Camp Sunshine
Drs. Shimamura and Myers meeting at the 2014 Camp Sunshine
8th International Congress on
Shwachman-Diamond Syndrome, April 2016, Verona, Italy
Dr. Myers receives the 8th International Congress on Shwachman-Diamond
Syndrome Quinlan Kohn Scholarship during the SDS Gala Dinner
Dr. Myers presents “The North American SDS Registry: Genetically Undefined SDS”
Dr. Akiko Shimamura, Brian Sheehan, Dr. Kasiani Myers and Maggie Malsch
enjoying a beautiful sunset in Verona during the SDS Gala Dinner
Brian Sheehan and Maggie Malsch enjoying the SDS Gala Dinner