TRANSCRIPT: Sen. Pia Cayetano's privilege speech on Rare Disease Day
Principal sponsor of Republic Act 10747 or Rare Diseases Act

Mr. President, I rise on a matter of personal and collective privilege. March 3 is the Anniversary of the Rare Disease Act, which this representation principally authored and sponsored.

Presidential Proclamation 1989 (series of 2010) established the 4th Week of every February as National Rare Disease Week. The last day of February of every year is "Rare Disease Day".

What is a rare disease? The World Health Organization (WHO) defines a rare disease as an "often-debilitating disease or condition with a prevalence of 0.65% to 1%".

Our law, the Rare Disease Act of the Philippines, refers to it as disorders such as inherited metabolic disorders and other diseases with similar rare occurrences as recognized by the DOH upon recommendation of the NIH but excluding catastrophic (i.e., life threatening, seriously debilitating, or serious and chronic) forms of more frequently occurring diseases.

So in layman's term, Mr. President, rare nga siya. Bibihira siya. Kokonti lang ang may ganyang sakit and what happens is there is also very little research that allows them to find life-saving interventions, whether the intervention be food, kasi minsan it's just food, medicines, or other kinds of treatment. There are not enough pharmaceuticals or even other entities that invest in finding solutions for those who have rare diseases.

As of 2023, the Philippines has identified 156 conditions, or 1 in every 20,000 individuals.

I actually authored this Act, Mr. President. It's a 2016 Act, but again our honoree, Dra. Padilla, is really the brainchild behind this. It is very technical so she was the one who worked on this so that we would have a law that aims to improve the availability of comprehensive medical care for patients diagnosed with rare diseases.

I would like to mention, Mr. President, that we have with us a few of the patients of Dra. Padilla, but before I go there, let me ask that a video be played, it's a very short video of Juan Magdaraog, who is actually with us, to just say a few words about his condition.

Yes, Mr. President. That is Dickoy, who is over there. As described by Dr. Padilla, he is practically paralyzed all over, practically because obviously, he can speak, so he can use that function, a little bit of movement on his fingers. But despite that, he is a productive member of society contributing to GDP and our economy.

Dear colleagues, you will be able to taste his culinary efforts because I regularly purchase his cuisine, which is chicken pie, key lime pie, it's my favorite. And I encourage all of you to try it because I need not salestalk this, masarap talaga... And in addition to that, Sen. JV, I want him to know that he is also a seller of collectible watches. As to why I mentioned this to you, wala lang, baka lang gusto mong bumili ng relo. And then he is also a digital expert giving advice and consultancy in the digital realm so if you have projects. And this is just Dickoy, Mr. President. I know that his mom is there, Cynthia, she's very active, please stand. She has been a partner of Dr. Padilla, reaching out to other parents and helping them have the courage to seek the kind of support that they need for their children. And it's because of this whole-of-society approach - government, because of our Chairman Senator Sonny Angara we are able to put budget for the Rare Disease Act implementation, and also the Newborn Screening. This is for rare diseases but the newborn screening in a way has some similarities, in the sense that if you can diagnose, then you can treat it ideally. Not all rare diseases have treatment.

Along with Dickoy here are just a few other patients, just to see the faces of these people who deal with this day to day. So may I call on Ziah Nicole. She has a metabolic condition leading to motor and cognitive delays. It is 6-Pyruvoyl-tetrahydropterin synthase (6PTPS) deficiency. And there is Janelle, a 10-year-old girl from Laguna with Phenylketonuria (PKU) that leads to developmental delays and behavioral problems. And then there's Schan Lieam, who is the younger sibling of Janelle, and is currently 3 years old. He also has PKU. And there's Louise Franzine who has Maple Syrup Urine Disease (MSUD). But because of its proper management, she is now in normal condition. She has already delivered her own baby, and the baby does not have this condition.

So there are happy stories despite the sad stories. And we're happy that they are happy to share their stories with us.

Very quickly, Mr. President, my son, Gabriel, had a rare disease. I actually did not know until years after he died that his condition is considered a rare disease. All I know during the time na wala pang internet, during a routine checkup with my OB-GYN, she told me that I wasn't gaining enough weight. And so at that time, it wasn't really routine to have an ultrasound, so she asked that I get an ultrasound, and it was revealed that my unborn child had a cleft lip and tumors in his kidney. That's what was shown in the ultrasound. And that was the beginning of many tests, etc. And I had to go to the US to have an amniocentesis. Because they don't do it here. Do they still not do it here? I don;t know, that's an issue I leave to the experts because being able to have that amniocentesis prepared me for the reality of what I was going to face.

So my son was born on December 4, 2000. And he lived for 9 months. And the early diagnosis helped prepare me emotionally and mentally for this condition. So that's something I think we should look into.

Anyway, I never knew that was something called a rare disease until years later when we were talking and I said, is my son's condition, which is called Trisomy 13, a rare disease? And Dr Padilla said yes, it's considered a rare disease. So I didn't even know at a time I was pushing for this bill that it's something that I personally had experienced.

Anyway, Mr. President, this is all tied up to SDG 3 on Good Health and Wellbeing, which no less than the WHO Director-General said, "The vision of the Sustainable Development Goals is a world in which no one is left behind," and that includes people who suffer from rare diseases.

So on that note, I thank our colleagues for the time to take a look at this issue. And even just having them here, we already got so much input and support on the need to provide more financial support, on the need also to help the communities who are thriving to be productive members of society. So thank you so much for the time that you have given the Senate to understand this issue better.

Thank you, Mr. President.

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Period of interpellations

[Sen Pimentel: title of law?]

PSC: Rare Diseases Act of 2016

[Sen Pimentel: salient points?]

PSC: Yes, Mr President. What's very important here in the law is that we well of course, it may go without saying, but we do recognize them as persons with disabilities, with all the benefits that fall under the definition of persons with disabilities, which is covered by a separate law.

And then, it requires the different government agencies to provide support. There's DSWD that is mentioned, even DOLE. And I know the line of questioning of the Minority Floor Leader will lead to that. So anong ginagawa nitong mga ito? Sen. Joel's favorite agency, I can see the big smile on his face, let me put on record. DOLE is actually required to adopt programs that promote the availability of opportunities for work and employment of abled persons with rare diseases.

In addition to that, Mr. President, there is the technical side of the work which must be done by DOH, which is perennially updating this list of persons with rare diseases. This may also be an opportunity to say that we are, Dr. Padilla, sadly, very reliant on international standards in determining also, discovering and determining what are these rare diseases. So it would be very nice, I don't even know if there are other Asian counterparts to the work we're doing, but if there is anything we can do, including more research. Because there is really a lack of research on what are the solutions and the interventions that can be done for many of these patients. But we have enough, well our Doktor Para sa Bayan, if I may mention, of course, contributes to that. The likes of Dra. Padilla to recruit them into their work. But one of the important things, and I'll just add newborn screening as well, is also to identify and recognize these conditions early on. Because ano namang matutulong natin kung hindi? And if we will only rely on geneticists like Dr. Padilla, konti lang kayo. I don't even know how many geneticists we have in the country. 20. We have 20 geneticists in the country. But what they have done is that they have created programs so that the various clinics that we have empowered have the ability to address those conditions.

I'll read it into the record if that's okay with the Minority Floor Leader, "Under the law, patients highly suspected of or diagnosed with a rare disease shall be referred to a newborn screening continuity clinic to ensure the early detection of that rare disease." So tied up talaga ang rare disease and the Newborn Screening Act.

And then "the DOH, with the assistance of NIH, shall develop a system to train a sufficient number of medical specialists to diagnose and manage persons with rare diseases."

[Sen Pimentel: Assistance for parents?]

PSC: I will give you a very specific answer. In 2022, we funded the establishment of 66 clinics all over the country to provide lifetime support for patients diagnosed with rare diseases after the newborn screening. So the Newborn Screening Act is already happening all over the country, right? Through various hospitals. And these 66 clinics are important to make sure that after may diagnosis, may continuing care. But this is an ongoing, this cannot be a one-time funding, Mr. President. So, in 2023, we added support for the operations because na-establish na, and this was 28M. In 2024, we had capital outlay for the continuity and satellite clinics across the country, only 5M, Mr. President. I have to add, having been a senator for almost, well, senator and 3 years in the House, so almost 20 years altogether, I have had the experience of working with secretaries who were not very keen on funding. And for me, my position has always been pondohan kahit paano, diba? Let's move it forward. I understand that these are rare diseases, if you are going to try to figure out how many children, how many families are affected, maybe it's not as many as those with cancer, but we still have to fund, they are still human beings, they are still Filipinos. So, yun lang sa akin, kasi kung tuloy-tuloy pakonti-konti, marami tayong ma-achieve, Mr. President.

[Sen Pimentel: main agency for implementation is DOH?]

PSC: So DOH and UP-NIH, because like ito pong establishment of clinics, the system that was going to be put in place was Dr Padilla's program. And having been... DOH ang main, NIH assists.

[Sen Pimentel: What program under DOH?]

PSC: For implementation of the Rare Disease Act, okay na po yun under the general DOH budget, they will put that for the implementation. Kasi we already have funding there, eh. The establishment of a clinic, support for operation...

I think that's still a dream of Dr Padilla to have a center for that.

[Sen Pimentel: Lodged in Secretary?]

PSC: But I have to say, Mr President. That's probably why Dr Padilla received the National Scientist award. Not just for her intelligence and her titles, but she's very diligent in making her projects become a reality. Grabe tumutok yan. So kapag yan nalagay diyan, hindi yan papayag na hindi magamit for the purpose it is intended.

[Sen Pimentel: Audit of implementation of law]

PSC: Mr President, I look forward to that opportunity. As his honor said, let's do an audit. Thank you.