Quinn

Son: Quinn, who is now 5 years old with XLT. Platelet counts do not generally exceed 20K on a typical day and drop to 8-15K with any viral illness; Quinn is generally in good health but has extreme bruising and has had several nosebleeds, although the bleeding was short lived. We are strongly considering splenectomy. Quinn has had almost 30 platelet transfusions to date. Quinn is a very active, athletic, and energetic young boy. He will enter regular kindergarten this fall with a 504 Accommodation Plan which outlines specific accommodations he will need to remain safe and healthy to include the use of a helmet during physical play.

Location: Connecticut-Fairfield County

Family History is extensive. Paternal grandmother was a carrier who passed mutation to both of her sons, my dad and uncle. My uncle passed away in 1981 from sepsis due to complications of WAS (he did not have a spleen). My dad is 72 and alive and living a full life, but has suffered many illnesses. Both he and my uncle had their spleens removed in their late teens. They were thought to have ITP. Both suffered bruising and frequent nosebleeds. My dad suffered several bouts of bacterial meningitis as a young man after his spleen was removed, but survived and takes antibiotics daily. My grandmother's brother was also believed to have been affected with WAS, as was my dad's first cousin (now deceased) and his grandson (18 y.o. and splenectomized). I, my sister, and my first cousin are all obligate carriers. Quinn has one sister, Lucia, age 2, who is not a carrier and is also not an HLA match for BMT.

Physicians: Dr. Candotti at NIH, Dr. Ochs (identified family mutation), Dr. Beardsley (Hematologist at Yale New Haven), Dr. Feulihan (Immunologist at Yale, now at Northwestern), Dr. Bussel at Cornell (looking into Eltrombopag for us which is a platelet booster typically used with ITP patients), Dr. Small (Sloan Kettering met with us about BMT), .

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