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Our medical journey first started in January of 2021. In the midst of Covid-19 our newborn baby had a new onset rash with petechia covering his torso. Unsure of what could have caused this, we took Jack in to see the very special staff of children’s emergency. The rash was diagnosed as ezcema and because of the petechia they decided to do bloodwork.

A critically low result came back shortly after showing a platelet count of 15 (normal is 150-400). We were admitted that night for a trial of IVIG to attempt to bring his platelet counts up. This unsuccessful attempt led us scheduling a bone marrow aspiration a few days later. While waiting for our results to come back our hematology team discussed trying a drug called “rituximab.” This drug essentially wipes out your immune system in hopes that it will “reset.” The downfall of this being that our sweet boy is now severely immunocompromised and his b-cells are now none existent. We were told that the drug should completely be out of his system and his b-cells should return in 9-12 months.

After the 3rd dose of rituximab we were not seeing any increase in his platelet counts and we decided to send off for genetic testing. Several weeks later, we had a follow up appointment with our heme team and it was discovered that Jack had a mutation called Wiskott Aldrich Syndrome (WAS).

WAS is rare genetic condition classified as thrombocytopenia, immunodeficiency and ezcema. This syndrome is considered a spectrum. The classic WAS is the more severe end of the spectrum and X-linked thrombocytopenia (XLT) being the more mild form. Given that we gave Jack Rituxamub - which wiped his immune system - we are unsure of how Jack has declared himself on the spectrum.

It was just this last week, after sending lab results off to Alberta, when we discovered that his b-cells had returned! Now we have to wait and see what happens from here. We treat his bleeding with TXA as needed, antibiotics for his frequent infections and we do at home subcutaneous injections of an immunoglobulin to help support his immune system.

The only cure for Wiskott Aldrich is a successful bone marrow transplant. Since Jack has not fully declared where he is on the spectrum at this point our hematology team is closely monitoring his bloodwork and treating as we go.

Despite his frequent infections, almost 100 IV attempts, pokes for bloodwork, and being covered in bruises, our little warrior always is the strongest one in the room. He is so brave and resilient and makes us the most proud parents everyday!

To reach out to Leslie, please see her Instagram @lesliebuschow

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