Age and Date of Diagnosis: 13 yo/October 2020
Diagnosis: Primary CNS HLH
Location of Treatment: Children's Hospital of Michigan
Child’s Interests: golfing, fishing, exercise & healthy eating.
In June 2019, our healthy 12 y/o son started having headaches, nausea, and an unsteady gait. MRI and CT scan revealed multiple lesions on his brain. He was admitted to the PICU and multiple tests were run and steroids administered. The lesions responded to steroids and all tests came back negative, so ADEM was the suspected diagnosis. After several weeks, the lesions came back along with all the symptoms, with the new symptom of double vision. Ben was admitted again and this time a craniotomy with tumor resection and biopsy were performed. Pathology was inconclusive and sent to NIH in Bethesda. Diagnosis couldn’t be confirmed, but T-Cell Lymphoma was the suggested diagnosis. High-dose Dexamethasone was started in August and by October, all lesions and symptoms were gone. In March 2020, all the lesions and symptoms returned, with the new symptoms of slurred speech and head bobbing. Doctors were still perplexed but gave him the official diagnosis of CLIPPERS. The only treatment being long-term steroids. After doing some research and meeting families through a CLIPPERS support group, we urged our doctor to do genetic testing for primary HLH. In October 2020, we received the results of genetic testing, Ben had a genetic mutation of UNC13D. He was diagnosed with Primary CNS Isolated HLH. He continued on Dexamethasone and began etoposide while the hunt for a bone marrow donor began. In February 2021, Ben had a bone marrow transplant from an unrelated 10/10 donor. He had his fair share of setbacks, but he is now 20 months post-BMT, 95% lymphoid chimerism, and doing well!
It took 16 months to get accurately diagnosed because Benjamin didn’t have any of the “typical” HLH symptoms - no persistent fevers, no enlarged spleen, liver, or lymph nodes, no respiratory problems, and platelets and blood counts were normal. Ben’s symptoms were only neurological.
We are thankful every day for Ben’s outcome."
