LAWYER JP Anthony Cuñada took his bicycle and rode across the country for the second time this year to raise public awareness to one of the rarest anomalies in human anatomy called X-linked dystonia-parkinsonism (XDP), a rare neurodegenerative disorder that affects muscular movement that incidentally spread only in Panay Island.
Cuñada, despite being a dystonia patient himself, said that he is riding his bike from Luzon to Mindanao because he wanted dystonia “to end in his generation.”
“I want to be the last person to have this dystonia in this generation. This is how desperate I am,” Cuñada told reporters in Tacloban after his brief stop before heading to Dipolog City on Friday, July 6.
Last July 14, 2017, the 37-yeal-old lawyer, who hails from Pilar, Capiz in Panay, was lucky enough to undergo an operation via Deep Brain Stimulation (DBS) for his brain to be able to produce “enough electricity” to control his muscular movement.
With wires and battery implanted on his right chest, Cuñada is now able to live a normal life--practicing his profession as litigation and labor lawyer, spending time on his hobbies like mountain climbing with his fellow mountaineers from Metropolitan Mountaineering Society, and above all, working side by side with his Palanca awardee poet-author wife Rebecca Añonuevo, among other everyday activities.
Cuñada’s medical operation did not come cheaply. It would cost P2 million for a dystonia-stricken person to be able to at least regain his normal muscular movement, he said.
“Before I was operated, I said to myself I don’t want to go to that operating room. But my cousin arrived from Canada and gave me a seed money of 35,000 Canadian dollars, which is equivalent to P1.3 million,” Cuñada recalled on how he was lucky to get a second lease on life through the help of family and friends who contributed money for his operation.
After six months of his recovery, Cuñada made a strong resolve to also help alleviate or end the misery of fellow dystonia patients in Panay.
“Commonly, dystonia’s onset is when a person is at his prime age. That’s how terrible it is. If you’re the breadwinner in the family, you’ll become totally useless,” Cuñada told SunStar Philippines.
While Cuñada admitted that he’s not yet totally cured, he said that what is more important to him now is that he’s still able to enjoy more time with his family and friends.
It’s always about seizing every opportunity while I can still afford it, said Cuñada who is also doing voluntary works for the country’s oldest organization of poets writing in Filipino, LIRA or Linangan sa Imahen, Retorika, at Anyo, as a poet himself.
“This operation doesn’t stop dystonia. Time will come, I will lose my balance,” added Cuñada.
To keep his balance, he has to recharge the battery on his chest every day.
Endemic in Panay
According to the National Center for Biotechnology Information of the US National Library of Medicine, X-linked recessive dystonia-parkinsonism (XDP) or commonly referred as “lubag” is a rare movement disorder that is highly prevalent in Panay.
“It is characterized by severe, progressive torsion dystonia, which dominates the first 10 to 15 years of the illness and is associated or replaced by parkinsonian features in the later years of life,” it said.
As most patients with XDP have a positive family history, it said that no treatment has been found to be effective against this debilitating disorder.
“And all cases described so far have been linked to Filipino ancestry, suggesting a single genetic founder and genetic homogeneity. Although extremely rare globally, the prevalence of XDP in the Philippines is 0.31 per 100,000; and in Panay Island, 5.74 per 100,000. Ninety-five percent of affected individuals are males; the average age is 44 years (20–70 years); and the average age at onset is 39 years (12–64 years),” the report said
It added that the use of botulinum toxin or botox “has been beneficial only for focal dystonia and provided temporary relief of focally impaired areas such as lingual or oromandibular dystonia in generalized cases.”
Deaths, pain in the family
While most cases of dystonia are recorded from men coming from Panay, Cuñada said that “women are the carrier but the disorder manifests only in men.”
As to his family, Cuñada said his dystonia was traced from the “first generation” in his mother side.
“My mother got four brothers. Three of them died due to dystonia. Only one of my uncles survived,” said Cuñada.
“While in our own family, my eldest brother died due to dystonia on July 31, 2014. He did not undergo an operation. He was only 44 years old. I saw his suffering. It was really painful,” added Cuñada on how he and his other four remaining siblings have seen the misery brought by dystonia to their eldest brother.
Cuñada’s mother, a retired midwife, is now 75 years old. His father’s death, however, was not related to dystonia.
Blood and brain donation drive
“Our scientists have already identified the gene responsible for X-linked dystonia-parkinsonism. After hundreds of years of suffering, XDP patients can look forward to a cure at hand. But our scientists need more data to fast track and to ascertain their findings.
“And I am going to help them gather data by encouraging patients and their family members to join our important research initiatives by donating blood and by signing consents for brain donation upon death,” Cuñada appealed.
“Because, in the Philippines, this study is spearheaded by the Sunshine Care Foundation based in Roxas City. DNA and brain extraction is only available in Panay and Guimaras islands for now,” he added.
Last January, Cuñada biked from Pasig to Pilar, Capiz to solicit money for botox to be used by dystonia patients to alleviate their pain and suffering for three months.
I set a goal of collecting money for only three botox vials but I ended up having 10, Cuñada wrote on his Facebook page: Climbing the Unclimbable: Defeating Dystonia.
According to Cuñada, the cost of botox per shot is P5,500.
Based on the information he received, Cuñada said that of the 800 dystonia patients, there were already 300 who died.
Out of the 500 who are alive, only 50 were operated, he said.
“Not everyone can afford this,” Cuñada said as he appealed for more help.
“I am asking money from people for those who are not operated,” Cuñada said of his advocacy drive.
“Sobra pangit, sobrang sakit. You wish that you’ll die. Gusto mong mamatay, pero hindi naman mamamatay,” he said of how persons with dystonia are suffering.
“Every month, there are eight cases of dystonia in Capiz,” he added.
‘No response from DOH’
As this developed, Cuñada called on Secretary of Health Dr. Francsco Duque to respond on his Dec. 13, 2017 letter as he inquired on how Republic Act (RA) 10747 or the Rare Diseases Act of the Philippines can do to people with XDP, especially those who have not undergone DBS like him.
The RA 10747 orders DOH to establish the Rare Diseases Technical Working Group (RDTWG), composed of a pool of experts on rare diseases from the National Institute of Health and other agencies. Rare disease or orphan disease “is any health condition resulting from genetic defects that rarely affect the general population.”
The RDTWG are tasked with identifying rare diseases, orphan drugs, and orphan products.
"Has the RDTWG been convened by DOH? May I have the list of the names of these designated pool of experts? May I also have the list of disorders or diseases determined by the RDTWG as rare, as well as the list of orphan drugs, and orphan products? Also, what policies have been formulated by RDTWG to regulate the approval and certification of orphan drugs and orphan products? When is their regular meeting? May I look into significant Minutes that will help enlighten patients like me,” he asked in his letter which remains unanswered until this writing.
“Upon studying the Rare Disease Act, there might not be a need for a separate law on XDP. R.A. 10747 is so broad it covers all rare diseases including dystonia. But the RDTWG must do its job. I would like to know if dystonia is listed by the RDTWG as one of the rare diseases in the Philippines. Because if it did, then, we dystonia patients can avail of these benefits enumerated in Sections 21 and 22, Article VII of the law” he added.
I searched the internet and the DOH website about any information about the RDTWG yet I could not find any, Cuñada said.
Signed into law by the then President Benigno Aquino III on March 3, 2016, RA 10747 “will help provide patients with rare diseases and their families better access to adequate medical care, health information, and healthcare products needed to treat their condition.”
A person with rare diseases can avail basic benefit package from the Philippine Health Insurance Corporation (PhilHealth), which shall be provided in accordance with its guidelines; and medical assistance as provided in Section 8 of Republic Act No. 10351 or the Sin Tax Reform Act of 2012.
Cuñada urged DOH to convene RDTWG before he will file charges against the agency.
It is provided in the Anti-Red Tape Act that you have to respond to a letter within three days, the lawyer said.
Cuñada, who has been in the legal profession for the past 10 years, also asked the intercession of President Rodrigo Duterte for the DOH to act on his concerns.
Sunshine Care Foundation
“The X-linked dystonia-parkinsonism (XDP) community owes so much to Atty. Geraldine Acuña-Sunshine who together with her brother Dr. Patrick Acuña founded The Sunshine Care Foundation (TSCF) based in Roxas City,” said Cuñada.
“This foundation is at the forefront of the initiative to find the cure for the genetic disease that has caused suffering to XDP patients for hundreds of years already. The Foundation also brings disorder specialists in Capiz to give the XDP patients, who are mostly destitute, the regular medical needs that they so badly need, among others. My brother, AZ, who also suffered from XDP, was one of the beneficiaries of this foundation before his death more than two years ago,” he wrote on his blog as he thanked the Foundation for giving dystonia patients with “dignity,” livelihood, and hope.
“Recently, the study initiated by the TSCF discovered the gene responsible for our involuntary movement. So, the cure is at hand. But our scientists need more data to double check their findings and also to fast-track their studies,” Cuñada added.
The Sunshine Care Foundation’s affiliated research institutes include the Massachusetts Institute of Technology, USA; Harvard Medical School in Boston, USA; Massachusetts General Hospital in USA; Broad Institute in Massachusetts, USA; The Buck Institute for Research and Aging in Novato, USA; Icahn School of Medicine at Mt. Sinai n New York City, New York, USA; Cold Spring Harbor Laboratory, USA; Neurological Foundation of New Zealand, New Zealand; Yale University School, USA; Northwell Health, USA; Penn Medicine, USA; University of Lübeck, Germany; Children’s Hospital of Philadelphia, USA; International Parkinson and Movement Society, Friedrich Schiller University Jena, Germany; Philippine General Hospital; Makati Medical Center; and National Institute of Health in Manila.
According to Cuñada, his advocacy drive is one way of helping scientists, geneticists, microbiologists, and specialists by collecting the data that they need in their research.
“Everyone is doing their part in finding the cure for dystonia. And they are very patient and enduring to find the cure. I can’t do that intellectual distance. But this I can. That’s why, on the other level I want them to know that, hey guys, there is also someone here like you who is determined or perhaps desperate to find the cure,” Cuñada said on what inspired him to continue biking despite his health condition.
“When the going gets tough in the laboratory, I want them to know that there is also someone here, although not in your field, but in another field who is willing to go this distance to find the cure for dystonia,” Cuñada said of his message to the medical people at The Sunshine Care Foundation and other specialists across the globe while fighting back his tears.
To know more about how you can support X-linked dystonia-parkinsonism (XDP) patients and their families, visit: https://www.sunshinecarefoundation.org/
To submit blood and brain donation consent form, visit: https://docs.google.com/forms/d/1qTyBQbAfWaV0Tvids--9sCY-48Bo9nY88dvvniNjRb4/viewform?edit_requested=true