Paying it forward on ‘orphan disease’ Fanconi Anemia
Thank you very much for Ceres Doyo’s column “Orphan diseases’ challenge” (Opinion, 9/4/14). Just this Sunday, I wrote to the Magdaraogs of the Philippine Society on Orphan Disorders to include my child Jack’s disease, Fanconi Anemia (FA), in the list of orphan diseases. PSOD president Cynthia Magdaraog responded positively and asked me to provide literature on FA, which I did.
FA is a rare inherited anemia that renders the bone marrow faulty at birth and incapable of producing enough life-giving cells. It presents itself as multiple congenital anomalies at birth until the bone marrow fails at some point, usually before the child is six years old. There are some who live to be FA adults but they would develop head and neck cancers.
There is yet no cure for FA even as clinical trials are ongoing in some parts of the world. The trials are being funded by an Oregon-based support group, Fanconi Anemia Research Fund (www.fanconi.org), whose
mission is to find a cure. We are the only Filipino family listed in its database, but I am certain that there must be others, as our hematologist/oncologist has confirmed.
Unfortunately, we could not save Jack from FA, and we were unable to get him the bone marrow transplant (BMT) that he needed. He died on Oct. 29, 2007, at the age of six years and four months at the Philippine Children’s Medical Center (PCMC), in the care of a very competent team. He would’ve been 13 now.
I’m writing to tell you how important that the bill is signed into law soon to families like the Magdaraogs and others, especially lower-income families. I’ve shared the following info with the PSOD as well:
1. Children with FA require blood transfusions.
The protocol for the treatment and management of FA is so specific and requires a procedure called “platelet apheresis” from a regular blood donor, which is expensive and usually not covered by a health card.
The packed RBCs need to be “irradiated” prior to transfusions. We had the irradiation done at the National Kidney and Transplant Institute. The transfusion procedure required the use of “leukocyte filters,” which we also bought from the hospital.
2. When the bone marrow begins to fail, hematologists/oncologists will prescribe androgens (oxymethalone) to stimulate the production of red blood cells and G-CSF (Granulyte colony stimulating factor) injections to stimulate the bone marrow. The medicines were expensive but these therapies worked for a year and bought us time.
3. Because we were preparing for an eventual BMT abroad, we had to go through a process called HLA Typing to look for potential marrow matches. In 2007, we had to send our blood samples by FedEx to Singapore’s National University Hospital for the HLA Typing. If memory serves me right, a group of friends made it happen and we didn’t have to pay the hospital anything. The HLA Typing results were e-mailed to us. I am not sure if HLA Typing is now being done in Manila.
4. No BMT for FA cases has been done in the Philippines owing to the complexity of the disease. Moreover, looking for a marrow match was difficult because our son was an only child. Also, the Philippines does not have a national marrow registry (which other countries have). A group of Filipinos from Harvard led us to the Asians for Miracle Marrow Matches (https://www.asianmarrow.org/) but the disease had progressed by then.
5. We raised an amount for Jack’s BMT through friends and family (and many kind strangers), but since we never got to it, we donated the money to Project Brave Kids (c/o Paul and Sigrid Perez) for children needing regular blood transfusions at the PCMC.
6. When we were raising funds, we sought financial help from Pagcor and PCSO. They said we didn’t qualify because we had jobs. I wrote to every single senator then, who referred me back to Pagcor and PCSO.
This is how challenging an orphan disease like Fanconi Anemia was for us, even if we had some resources. I’ve posted Ms Doyo’s column on my FB wall and asked friends to please do likewise, just to get the message across. It’s the least I can do to honor Jack, and pay forward, too.
—BABS A. SIMBULAN,
