James Patrick
Mom: Robin. We learned that I am a carrier as are my Mom and sister. There have been no boys born into our family until I had my two sons.
Son: James Patrick ("J.P."), born in October 2009. J.P. was diagnosed with WAS/XLT at 2.5 months of age. J.P. was born almost 6 weeks premature via emergency c-section and during a routine CBC in the NICU they noticed his platelets were low. In the first 10 weeks of life J.P. had 12 platelet transfusions, a bone marrow biopsy, a PICC line installed (and removed two weeks later when it clotted) and one round of IVIG. JP's platelets seem to be hanging out around the 25,000-40,000 range. He has recently experienced a dip to 8,000 and we treated with two rounds of IVIG. His immune system is testing strong, but he takes Septra twice a day three days a week as a precaution.
J.P. has an older brother who is not an HLA match. Without a matched sibling we are hesitant to pursue a BMT given J.P.'s otherwise good health and functioning immune system. J.P. has had no bleeds and minimal petechia and bruising. Since he is very young and in good health, we are taking a wait-and-see approach at this time. Our hope is that 1) J.P. will grow into a higher platelet count (50,000+), 2) Eltrombopag will develop as a safe and viable option, or 3) we may opt to pursue other options such as splenectomy or gene therapy.
Location: Northern California
Physicians: Dr. Fabio Candotti at the NIH; Dr. Jennifer Puck (Immunologist) at UCSF; Dr. Louis Lo (Hematologist) at California Pacific Medical Center and Dr. Ralph Myers (Pediatrician).
To contact Robin, please go the Discussion Forum

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