The Best Kind Of Support

Pauline Martinez, age 11
Gaucher Disease

I begged the doctors to help her. We did not want her to be discharged without a correct diagnosis.

Six months after I gave birth to my third child, Pauline, I felt a lump on the left side of her abdomen. It was the size of a marble, near her navel. We did not think of taking her to the doctor right away. We thought of observing it for a few more days.

Months passed, my husband and I decided to bring her to the doctor. The doctor ordered an ultrasound and some blood tests. When the results of the ultrasound came back, the doctor could not tell if it was Pauline’s spleen or liver that was increasing in size. We were referred to a tertiary hospital and more diagnostic tests were done. Doctors could not tell what was wrong with her when the results came back. They gave her blood transfusion and sent her home without a diagnosis.

We thought of just giving her herbal medicine, hoping that her condition will get better. As she grew, her tummy increased in size as well. The children in the neighbourhood nicknamed her “Pregnant”. Soon she did not want to go out and play with them anymore as she was always tired.

Several years passed, we went in and out of the hospital, each time they gave us a different diagnosis, from Beta Thalassemia to Leukemia. Each time more diagnostic tests were done. It was painful to see our child suffer that much at a very young age.

The little money we had were spent on seeking medical help for Pauline. We neglected the needs of our other children. My husband borrowed money from his friends and some of our relatives. Doctors could only give Pauline blood transfusions to address her blood problem. Her tummy continued to grow bigger. She could only sit for a short period of time.

The situation became worse when Pauline turned four. I begged the doctors to help her. We did not want her to be discharged without a correct diagnosis. We were referred to Dr. Carmencita Padilla, a geneticist in Philippine General Hospital. Pauline’s blood samples were sent to the National Institute of Health and Dr. Padilla visited personally to check on Pauline.

Couple of weeks after she was discharged, we got a call from the Institute of Human Genetics. We were asked to go there and the geneticist explained to us the diagnosis of Pauline. It was a rare condition called Gaucher disease. That was the start of how the life of Pauline was transformed. In November 2010, when Pauline turned five, she started Enzyme Replacement Therapy. Treatment was sponsored by the pharmaceutical company that manufactures the treatment.

Pauline is now 11 years old. She continues to receive treatment through the help of Philippine Society for Orphan Disorders (PSOD), the doctors from Philippine General Hospital and the pharmaceutical company. She is attending school regularly as a 6th grader. She is very active and there is no physical trace of the disorder. When she looks in the mirror, she is so happy that her tummy is not big anymore.

We are very grateful for those people who helped us along the way. Being able to find an organization, Philippine Society for Orphan Disorders, that supports us is such a great blessing. They ensure that Pauline continues to receives the treatment she needs and help us with other medical needs.

Members of PSOD give emotional support to everyone who needs it, regardless what type of rare diseases their love ones have. Most of us have experiences which we can share with one another. We hope that the treatment or cure for Gaucher and other types of rare diseases will become easily accessible to everybody who needs it. We pray for Pauline and all of our children to be always well and healthy. We pray that they will be able to attain their dreams.



Contributing Partner


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