Knowah’s Long Road to Wiskott-Aldrich Syndrome (WAS)

The story of Dindin

My name is Dindin, a housewife from Batangas City, Philippines. I am the mother of Knowah, a 10-month old angel, a sweet blessing given to me and my husband this year. We waited almost two years to have Knowah. My husband is an OFW in the Middle East and we are usually miles apart for a year.
Ever since Knowah was born, we have been in and out of the hospital because of his condition. At first, not even the doctors and specialists from the Philippines could figure out what was wrong, or why Knowah’s immune system was failing and his blood platelet count and hemoglobin were very low and he needed transfusions weekly.
At two weeks of life, Knowah was admitted at a local hospital in Philippines for a fever. The impression at that time was neonatal sepsis. Blood culture grew staph. Aureus. Lists of antibiotics were given: Erythromycin(Ilosone Drops), Amikacin, Cefotaxime, Pipperacillin and Tazobactam. Knowah was discharged after nine days.The next day, after trying some formula, Knowah experienced vomiting & diarrhoea.
He was admitted again and the impression was neonatal sepsis. Blood culture revealed no growth. The chest x-ray was also reported to reveal pneumonia. Vancomycin antibiotics were given for two days and oral cefataxime. Knowah was discharged again after five days.
At one month of life, Knowah had blood streaked stools and was treated for amoebasis with metronidazole. However, the blood-streaked stools have persisted . At two months of life, Knowah had another fever. The diagnosis then was otitis media and he was given amoxicillin. However, he remained febrile. CBC was reported to reveal thrombocytopenia. His platelet count was 56,000 and hemoglobin was 86. Knowah was subsequently admitted for sepsis and given meropenem for seven days.
Knowah’s CBC persistently showed thrombocytopenia; Platelet – 5,000 and hemoglobin-71. thus, he was referred to a hospital in Manila Philippines where he was transfused with platelet concentrate. The thrombocytopenia persisted, And we were once again referred to a different hospital where transfusions of Pack RBC and platelet concentrate were administered. An abdominal ultrasound revealed splenomegally.
Then, Knowah was referred again to a hospital where a skin biopsy was performed to rule out Langerhan’s Cell Histiocytosis. The findings were consistent with seborrheic dermatitis. Examination of the peripheral smear revealed hypochromic, mildly microcytic red blood cells, mature leukocytes, inadequate platelets granular with different sizes, some are extremely small, no clumping noted. A bone marrow aspiration was also performed which revealed a normocellular marrow with orderly maturation of erythroid and granulocytic series. Lymphocytes are mature looking. Megakaryocytes are noted in various stages of maturation. No significant blast cell population. No extramedullary cells noted. After several months of on-and-off confinement, a blood sample was sent to the States, and it is to our deep sorrow that when the results came in, Knowah was diagnosed with Wiskott-Aldrich Syndrome (WAS).
Wiskott-Aldrich Syndrome is a rare immunodeficiency disease, and according to research, children suffering from the disease only have a life expectancy of 8-14 years, with the child experiencing health difficulties over the years. We were informed by Dr. Hans D. Ochs of the Center for Immunity and Immunotherapies – Seattle Children’s Research Institute that “treatment of choice is early bone marrow transplantation with myeloablative conditioning.”
In the same mail he said that “this may be difficult to accomplish in the Philippines.” Knowah was also suspected to have severe multiple allergies and none of any formula here in Philippines work for him. My husband and I are struggling a lot, financially and emotionally. We waited and prayed for almost two years to have Knowah in our life. When we got the confirmation result for Knowah’s condition I thought I was ready for it. So when I got the final diagnosis it’s like the ground disappears from under my feet.
The hardest part is when I am looking to my little one thinking he will bear too much pain if I do not get him to have his bone marrow transplant as soon as possible. There are only two babies in the Philippines who have WAS and the other one died last November 2014. Some babies did not get diagnosed and died early. And he is the only one left. The expenses to be incurred for Knowah’s treatment are quite expensive, especially since the operation is sensitive and will be undertaken in other country. We are approaching different organizations and groups for financial aid for Knowah’s treatment, so that he can have a healthier future and a fruitful life.